J. McGrath

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Naegeli-franceschetti-jadassohn Syndrome and Dermatopathia Pigmentosa Reticularis: Two Allelic Ectodermal Dysplasias Caused by Dominant Mutations in Krt14

J. Lugassy, P. Itin, A. Ishida-Yamamoto, 2022 .

Preimplantation genetic diagnosis of compound heterozygous mutations leading to ablation of plakophilin‐1 (PKP1) and resulting in skin fragility ectodermal dysplasia syndrome: a case report

J. McGrath, A. Thornhill, A. Handyside, 2000 .

Alopecia universalis associated with a mutation in the human hairless gene.

J. Ott, J. Owen, J. McGrath, 1998, Science.

A homozygous nonsense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia.

J. McGrath, A. Christiano, W. Ahmad, 1999, The Journal of investigative dermatology.

Genomewide linkage scan for bipolar-disorder susceptibility loci among Ashkenazi Jewish families.

J. McGrath, M. Fallin, G. Nestadt, 2004, American journal of human genetics.

Bipolar I disorder and schizophrenia: a 440-single-nucleotide polymorphism screen of 64 candidate genes among Ashkenazi Jewish case-parent trios.

R. Huganir, J. McGrath, D. Avramopoulos, 2005, American journal of human genetics.

PDGFRα-positive cells in bone marrow are mobilized by high mobility group box 1 (HMGB1) to regenerate injured epithelia

Y. Kaneda, J. Miyazaki, M. Ishii, 2011, Proceedings of the National Academy of Sciences.

Lethal acantholytic epidermolysis bullosa.

J. McGrath, M. Jonkman, M. Bolling, 2010, Dermatologic clinics.

Clinical and molecular significance of splice site mutations in the plakophilin 1 gene in patients with ectodermal dysplasia-skin fragility syndrome.

J. McGrath, V. Wessagowit, 2005, Acta dermato-venereologica.

Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense.

J. McGrath, V. Wessagowit, Soo-Chan Kim, 2005, The Journal of investigative dermatology.

Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa.

J. McGrath, R. Jeffery, G. Elia, 2008, The Journal of investigative dermatology.

WNT10A mutation causes ectodermal dysplasia by impairing progenitor cell proliferation and KLF4-mediated differentiation

K. Kaestner, F. Liu, E. Morrisey, 2017, Nature Communications.

Intra-familial variability of ectodermal defects associated with WNT10A mutations.

J. McGrath, N. Nagy, E. Wedgeworth, 2011, Acta dermato-venereologica.

Heterogeneous addiction to transforming growth factor‐beta signalling in recessive dystrophic epidermolysis bullosa‐associated cutaneous squamous cell carcinoma *

J. McGrath, G. Inman, K. Blyth, 2020, The British journal of dermatology.

Mutations in GRHL2 Result in an Autosomal-Recessive Ectodermal Dysplasia Syndrome

M. Simpson, J. R. McMillan, M. Akiyama, 2014, American journal of human genetics.

Genetic heterogeneity in schizophrenia: stratification of genome scan data using co-segregating related phenotypes

D. Housman, S. Antonarakis, J. McGrath, 2000, Molecular Psychiatry.

Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.

N. Rahman, P. Futreal, F. Muntoni, 2003, American journal of human genetics.

Genomic organization and amplification of the human keratin 15 and keratin 19 genes.

J. McGrath, N. Whittock, R. Eady, 2000, Biochemical and biophysical research communications.

Recently Identified Forms of Epidermolysis Bullosa

J. McGrath, 2015, Annals of dermatology.

Bipolar I Disorder and Schizophrenia : A 440 – Single-Nucleotide Polymorphism Screen of 64 Candidate Genes among Ashkenazi Jewish

R. Huganir, J. McGrath, D. Avramopoulos, 2007 .

Microdeletions of 3q29 confer high risk for schizophrenia.

D. Cutler, G. Satten, S. Warren, 2010, American journal of human genetics.

Cell therapy in dermatology.

J. McGrath, G. Petrof, A. Abdul‐Wahab, 2014, Cold Spring Harbor perspectives in medicine.

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

E. Lane, J. R. McMillan, J. McGrath, 1997, Nature Genetics.

Ectodermal dysplasia-skin fragility syndrome resulting from a new homozygous mutation, 888delC, in the desmosomal protein plakophilin 1.

J. McGrath, A. Paller, S. Ersoy-Evans, 2006, Journal of the American Academy of Dermatology.

Kindlin-1 Regulates Epidermal Growth Factor Receptor Signaling

J. McGrath, M. Parsons, B. Goult, 2019, The Journal of investigative dermatology.

Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation.

J. McGrath, M. Parsons, S. Ussar, 2009, The American journal of pathology.

Serum sickness‐like illness following streptokinase therapy. A case report

J. McGrath, N. Smith, M. Webb-Peploe, 1995, Clinical and experimental dermatology.

Reciprocal Duplication of the Williams-Beuren Syndrome Deletion on Chromosome 7q11.23 Is Associated with Schizophrenia

D. Conrad, C. Barnes, M. Hurles, 2014, Biological Psychiatry.

A missense mutation in the zinc-finger domain of the human hairless gene underlies congenital atrichia in a family of Irish travellers.

J. McGrath, A. Christiano, A. Irvine, 1998, American journal of human genetics.

Epidermolysis bullosa simplex (Dowling-Meara type) is a genetic disease characterized by an abnormal keratin-filament network involving keratins K5 and K14.

E. Lane, A. Ishida-Yamamoto, J. McGrath, 1991, The Journal of investigative dermatology.

Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.

J. McGrath, J. Mellerio, Lu Liu, 2011, Acta dermato-venereologica.

Transient bullous dermolysis of the newborn in three generations

J. McGrath, H. Fassihi, V. Wessagowit, 2005, The British journal of dermatology.

Molecular basis of recessive dystrophic epidermolysis bullosa: genotype/phenotype correlation in a case of moderate clinical severity.

H. Shimizu, T. Nishikawa, J. Uitto, 1996, The Journal of investigative dermatology.

Ectodermal Dysplasia: Rapp-Hodgkin Syndrome and Hay-Wells Syndrome

J. McGrath, C. Supsrisunjai, 2014 .

Rapp–Hodgkin and Hay–Wells ectodermal dysplasia syndromes represent a variable spectrum of the same genetic disorder

J. McGrath, S. Holden, F. Escande, 2010, British Journal of Dermatology.

A novel translation re-initiation mechanism for the p63 gene revealed by amino-terminal truncating mutations in Rapp-Hodgkin/Hay-Wells-like syndromes.

H. Brunner, J. McGrath, T. Rinne, 2008, Human molecular genetics.

Rapp–Hodgkin ectodermal dysplasia syndrome: The clinical and molecular overlap with Hay–Wells syndrome

J. McGrath, S. White, R. Savarirayan, 2006, American journal of medical genetics. Part A.

Rapp–Hodgkin syndrome and the tail of p63

J. McGrath, I. Chan, S. Kivirikko, 2005, Clinical and experimental dermatology.

Lipoid proteinosis.

J. McGrath, 2015, Handbook of clinical neurology.

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis

J. McGrath, K. Abu-Amero, M. Salih, 2011, BMC Medical Genetics.

Accuracy of the diagnoses of affective disorders and schizophrenia in public hospitals.

J. McGrath, W. Carpenter, A. Pulver, 1988, The American journal of psychiatry.

Epidermolysis bullosa pruriginosa masquerading as psychogenic pruritus.

J. McGrath, H. Tey, G. Yosipovitch, 2011, Archives of dermatology.

Prenatal diagnosis for severe inherited skin disorders: 25 years' experience

K. Nicolaides, C. Rodeck, K. Nicolaides, 2006, The British journal of dermatology.

EEC (Ectrodactyly, Ectodermal dysplasia, Clefting) syndrome: heterozygous mutation in the p63 gene (R279H) and DNA‐based prenatal diagnosis

J. McGrath, C. Willoughby, R. Eady, 2002, The British journal of dermatology.

Common mutations in Arg304 of the p63 gene in ectrodactyly, ectodermal dysplasia, clefting syndrome: lack of genotype-phenotype correlation and implications for mutation detection strategies.

J. McGrath, D. Goudie, C. Willoughby, 2002, The Journal of investigative dermatology.

Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome

J. McGrath, J. Mellerio, V. Wessagowit, 2000, Clinical and experimental dermatology.

Germline NLRP1 Mutations Cause Skin Inflammatory and Cancer Susceptibility Syndromes via Inflammasome Activation

E. Lane, J. Connolly, M. Akiyama, 2016, Cell.

Genomewide linkage scan for schizophrenia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 10q22.

J. McGrath, M. Fallin, G. Nestadt, 2003, American journal of human genetics.

Genome-wide association study in frontal fibrosing alopecia identifies four susceptibility loci including HLA-B*07:02

Chrysanthi Ainali, Xavier Estivill, Alka Saxena, 2019, Nature Communications.

Clinical characteristics of male frontal fibrosing alopecia: a single‐centre case series from London, UK

J. McGrath, N. Dand, D. Fenton, 2021, The British journal of dermatology.

There is no proven association between sensitization to benzyl salicylate and frontal fibrosing alopecia

J. McGrath, I. White, C. Tziotzios, 2021, Contact dermatitis.

Alopecia areata and frontal fibrosing alopecia: dimorphism by concurrence

J. McGrath, D. Fenton, C. Tziotzios, 2020, Clinical and experimental dermatology.

Frontal fibrosing alopecia: a descriptive cross‐sectional study of 711 cases in female patients from the UK

J. McGrath, A. Messenger, A. McDonagh, 2020, The British journal of dermatology.

Frontal fibrosing alopecia should be renamed to lichen planopilaris of Kossard.

J. McGrath, D. Fenton, C. Tziotzios, 2019, Journal of the American Academy of Dermatology.

Familial frontal fibrosing alopecia.

J. McGrath, D. Fenton, C. Tziotzios, 2015, Journal of the American Academy of Dermatology.

Frontal fibrosing alopecia: there is no statistically significant association with leave‐on facial skin care products and sunscreens

J. McGrath, S. Seegobin, D. Fenton, 2016, The British journal of dermatology.

Age-incidence artifacts do not account for the season-of-birth effect in schizophrenia.

J. McGrath, A. Pulver, P. Wolyniec, 1990, Schizophrenia bulletin.

A novel mutation in the VDR gene in hereditary vitamin D‐resistant rickets

M. Akiyama, J. McGrath, V. Wessagowit, 2007, The British journal of dermatology.

Transplanted Bone Marrow–Derived Circulating PDGFRα+ Cells Restore Type VII Collagen in Recessive Dystrophic Epidermolysis Bullosa Mouse Skin Graft

Y. Kaneda, M. Ishii, J. Uitto, 2015, The Journal of Immunology.

Human mesenchymal stromal cells engineered to express collagen VII can restore anchoring fibrils in recessive dystrophic epidermolysis bullosa skin graft chimeras.

J. McGrath, R. Fleck, F. Dazzi, 2020, The Journal of investigative dermatology.

Progress Towards Treatment and Cure of Epidermolysis Bullosa: Summary of the DEBRA International Research Symposium EB2015

J. Uitto, J. McGrath, A. Christiano, 2015, The Journal of investigative dermatology.

Mesenchymal stem cell therapy for recessive dystrophic epidermolysis bullosa: prospects and clinical progress

J. McGrath, J. Mellerio, E. Rashidghamat, 2016 .

Linkage analysis of plasma dopamine β-hydroxylase activity in families of patients with schizophrenia

R. Bonsall, R. Elston, J. McGrath, 2011, Human Genetics.

Single‐cell transcriptomics in human skin research: available technologies, technical considerations and disease applications

J. McGrath, A. Veves, A. Onoufriadis, 2022, Experimental dermatology.

Most individuals with either segmental or non‐segmental vitiligo display evidence of bilateral cochlear dysfunction

J. McGrath, M. El-Badry, T. Anbar, 2015, The British journal of dermatology.

Thrombospondin-1 Is a Major Activator of TGF-β Signaling in Recessive Dystrophic Epidermolysis Bullosa Fibroblasts.

J. McGrath, A. Fertala, A. South, 2019, The Journal of investigative dermatology.

Epidermolysis bullosa complicated by squamous cell carcinoma: report of 10 cases

J. McGrath, P. Mckee, O. Schofield, 1992, Journal of cutaneous pathology.

Revertant mosaicism in skin: natural gene therapy.

Jouni Uitto, J. Uitto, J. McGrath, 2011, Trends in molecular medicine.

Reduced Toxicity Conditioning and Allogeneic Hematopoietic Progenitor Cell Transplantation for Recessive Dystrophic Epidermolysis Bullosa.

K. Radhakrishnan, J. Uitto, J. McGrath, 2015, The Journal of pediatrics.

Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive dystrophic epidermolysis bullosa

J. Wagner, J. Tolar, J. McGrath, 2013, The Journal of investigative dermatology.

Somatic forward (nonrevertant) mosaicism in recessive dystrophic epidermolysis bullosa.

J. McGrath, Lu Liu, J. Lai-Cheong, 2014, JAMA dermatology.

Novel molecular therapies for heritable skin disorders.

J. Uitto, J. McGrath, A. Christiano, 2012, The Journal of investigative dermatology.

Revertant mosaicism in Kindler syndrome.

J. McGrath, M. Parsons, C. Moss, 2012, The Journal of investigative dermatology.

Bone marrow transplantation in epidermolysis bullosa.

J. McGrath, G. Petrof, A. Abdul‐Wahab, 2012, Immunotherapy.

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB.

E. Bauer, H. Shimizu, J. Uitto, 2008, Journal of the American Academy of Dermatology.

Revertant mosaicism in recessive dystrophic epidermolysis bullosa.

J. McGrath, J. Mellerio, N. Nagy, 2010, The Journal of investigative dermatology.

Mutations in genes encoding desmosomal proteins: spectrum of cutaneous and extracutaneous abnormalities *

J. McGrath, J. Lee, 2020, The British journal of dermatology.

Homozygous nonsense mutation in DSC3 resulting in skin fragility and hypotrichosis.

M. Simpson, J. McGrath, J. Mellerio, 2019, The Journal of investigative dermatology.

Desmosomal Proteins and Their Role in Epidermolysis Bullosa

J. McGrath, 2015 .

Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children.

D. Kelsell, J. McGrath, C. Mein, 2010, The Journal of investigative dermatology.

A clinician's guide to omics resources in dermatology

J. McGrath, A. Onoufriadis, B. Doolan, 2022, Clinical and experimental dermatology.

Preconditioning of mesenchymal stem cells for improved transplantation efficacy in recessive dystrophic epidermolysis bullosa

J. Tolar, J. McGrath, Christopher Perdoni, 2014, Stem Cell Research & Therapy.

HB-EGF induces COL7A1 expression in keratinocytes and fibroblasts: possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis Bullosa.

J. McGrath, J. Mellerio, N. Nagy, 2011, The Journal of investigative dermatology.

Progress in epidermolysis bullosa research: toward treatment and cure.

J. Uitto, J. McGrath, U. Rodeck, 2010, The Journal of investigative dermatology.

APOBEC mutation drives early-onset squamous cell carcinomas in recessive dystrophic epidermolysis bullosa

E. Purdom, K. Tsai, E. Collisson, 2018, Science Translational Medicine.

The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing.

H. Kremer, J. Uitto, J. McGrath, 1999, American journal of human genetics.

Unravelling the genetic basis of contact allergy

J. McGrath, I. White, C. Tziotzios, 2021, Contact dermatitis.

A homozygous missense mutation in the cytoplasmic tail of beta4 integrin, G931D, that disrupts hemidesmosome assembly and underlies Non-Herlitz junctional epidermolysis bullosa without pyloric atresia?

H. Shimizu, J. McGrath, T. Hashimoto, 2000, The Journal of investigative dermatology.

Bone metabolism in children with epidermolysis bullosa.

J. McGrath, F. Palisson, M. L. Reyes, 2002, The Journal of pediatrics.

Keratinocyte heal thyself: a new form of "natural gene therapy".

J. McGrath, 2004, The Journal of investigative dermatology.

Recent advances in the molecular basis of inherited skin diseases.

J. McGrath, R. Eady, 2001, Advances in genetics.

Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.

J. Uitto, J. McGrath, A. Christiano, 1996, American journal of human genetics.

Altered expression of l‐arginine metabolism pathway genes in chronic wounds in recessive dystrophic epidermolysis bullosa

J. McGrath, R. Mallipeddi, A. South, 2004, Clinical and experimental dermatology.

High levels of type VII collagen expression in recessive dystrophic epidermolysis bullosa cutaneous squamous cell carcinoma keratinocytes increases PI3K and MAPK signalling, cell migration and invasion

J. McGrath, I. Leigh, Mei Chen, 2014, The British journal of dermatology.

Compound heterozygosity for non-sense and mis-sense mutations in desmoplakin underlies skin fragility/woolly hair syndrome.

J. McGrath, A. Christiano, L. Pulkkinen, 2002, The Journal of investigative dermatology.

Metabolic perturbations in fibrosis disease.

J. McGrath, T. Shaw, M. Parsons, 2021, The international journal of biochemistry & cell biology.

EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features

E. Zackai, R. Ganetzky, M. Simpson, 2015, Molecular genetics & genomic medicine.

Complete paternal uniparental isodisomy of chromosome 1 resulting in Herlitz junctional epidermolysis bullosa

J. McGrath, H. Fassihi, J. Mellerio, 2005, Clincal and Experimental Dermatology.

Detection of SNP‐SNP interactions in trios of parents with schizophrenic children

Ingo Ruczinski, Thomas A Louis, Kung-Yee Liang, 2010, Genetic epidemiology.

An essential role for the Zn2+ transporter ZIP7 in B cell development

J. Casanova, G. Rutter, M. van der Burg, 2019, Nature Immunology.

Cycloheximide facilitates the identification of aberrant transcripts resulting from a novel splice-site mutation in COL17A1 in a patient with generalized atrophic benign epidermolysis bullosa.

J. Uitto, J. McGrath, K. Yancey, 1998, The Journal of investigative dermatology.

Phase I study protocol for ex-vivo lentiviral gene therapy for the inherited skin disease, Netherton Syndrome.

J. McGrath, A. Thrasher, J. Mellerio, 2013, Human gene therapy. Clinical development.

Phase I study protocol for ex vivo lentiviral gene therapy for the inherited skin disease, Netherton syndrome.

J. McGrath, F. Farzaneh, A. Thrasher, 2013, Human gene therapy. Clinical development.

Skin differences based on age and chronicity of ultraviolet exposure: results from a gene expression profiling study

J. McGrath, M. Robinson, R. L. Binder, 2012, The British journal of dermatology.

A role for Collagen VII in matrix protein secretion.

J. McGrath, Mei Chen, A. South, 2022, Matrix biology : journal of the International Society for Matrix Biology.

Plasma metabolomic profiling reflects the malnourished and chronic inflammatory state in recessive dystrophic epidermolysis bullosa.

J. McGrath, Yu-Ching Lin, A. Onoufriadis, 2022, Journal of dermatological science.

Localized autosomal recessive epidermolysis bullosa simplex arising from a novel homozygous frameshift mutation in DST (BPAG1)

J. McGrath, L. Liu, D. Balacco, 2021, Clinical and experimental dermatology.

Ichthyosis follicularis, atrichia, and photophobia syndrome associated with a new mutation in MBTPS2

M. Akiyama, J. McGrath, T. Takeichi, 2015, Clinical and experimental dermatology.

Lichen planus and lichenoid dermatoses: Conventional and emerging therapeutic strategies.

J. McGrath, D. Fenton, C. Tziotzios, 2018, Journal of the American Academy of Dermatology.

Fish odour syndrome with features of both primary and secondary trimethylaminuria

J. McGrath, N. Manning, E. Fraser-Andrews, 2003, Clinical and experimental dermatology.

Inherited disorders of desmosomes

J. McGrath, 2005, The Australasian journal of dermatology.

Filaggrin and the great epidermal barrier grief

J. McGrath, 2008, The Australasian journal of dermatology.

Lichen planus and lichenoid dermatoses: Clinical overview and molecular basis.

J. McGrath, D. Fenton, C. Tziotzios, 2018, Journal of the American Academy of Dermatology.

Lichen Planus and Lichenoid Dermatoses

J. McGrath, D. Fenton, C. Stefanato, 2020, Atlas of Dermatoses in Pigmented Skin.

Congenital muscular dystrophy, myasthenic symptoms and epidermolysis bullosa simplex (EBS) associated with mutations in the PLEC1 gene encoding plectin

S. Al-Sarraj, J. McGrath, H. Jungbluth, 2010, Neuromuscular Disorders.

Animal models of epidermolysis bullosa: update 2010.

J. Uitto, J. McGrath, L. Bruckner-Tuderman, 2010, The Journal of investigative dermatology.

A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome

Anthony P. Monaco, Jouni Uitto, Daniel E. Weeks, 1996, Nature Genetics.

Novel autosomal dominant mutation in loricrin presenting as prominent ichthyosis

J. R. McMillan, J. McGrath, C. Cole, 2015, The British journal of dermatology.

Prenatal Diagnosis of Inherited Skin Disorders

J. McGrath, 2011 .

Selective involvement of keratins K1 and K10 in the cytoskeletal abnormality of epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma).

E. Lane, A. Ishida-Yamamoto, J. McGrath, 1992, The Journal of investigative dermatology.

Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait

J. McGrath, J. Mellerio, H. Al-Ajmi, 2018, International journal of dermatology.

Genomic organization and amplification of the human epidermal type II keratin genes K1 and K5.

J. McGrath, N. Whittock, R. Eady, 2000, Biochemical and biophysical research communications.

Homozygous nonsense mutation in helix 2 of K14 causes severe recessive epidermolysis bullosa simplex

E. Lane, J. McGrath, R. Eady, 1998, Human mutation.

Recessive epidermolysis bullosa simplex associated with plectin mutations: infantile respiratory complications in two unrelated cases

E. Lane, J. R. McMillan, J. Uitto, 1997, The British journal of dermatology.

Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome.

J. McGrath, I. Leigh, R. Eady, 2004, The Journal of investigative dermatology.

New mutations in keratin 1 that cause bullous congenital ichthyosiform erythroderma and keratin 2e that cause ichthyosis bullosa of Siemens

J. McGrath, N. Whittock, R. Eady, 2001, The British journal of dermatology.

Epidermolysis bullosa simplex (Dowling‐Meara). A clinicopathological review

A. Ishida-Yamamoto, J. McGrath, R. Eady, 1992, The British journal of dermatology.

Keratin 9 Is Required for the Structural Integrity and Terminal Differentiation of the Palmoplantar Epidermis

J. McGrath, D. J. Fu, D. Lunny, 2013, The Journal of investigative dermatology.

Preimplantation genetic diagnosis of severe inherited skin diseases

J. McGrath, A. Handyside, J. McGrath, 1998, Experimental dermatology.

Work environment and schizophrenia: an extension of the arousal hypothesis to occupational self-selection

C. Muntaner, J. McGrath, W. Eaton, 1993, Social Psychiatry and Psychiatric Epidemiology.

Premature termination codons are present on both alleles of the bullous pemphigoid antigen 2/type XVII collagen gene in five Austrian families with generalized atrophic benign epidermolysis bullosa.

J. Uitto, J. McGrath, A. Christiano, 1997, The Journal of investigative dermatology.

Autoinflammatory keratinization diseases: An emerging concept encompassing various inflammatory keratinization disorders of the skin.

M. Akiyama, J. McGrath, T. Takeichi, 2018, Journal of dermatological science.

Phenotype, genotype, and sustained response to anakinra in 22 patients with autoinflammatory disease associated with CIAS-1/NALP3 mutations.

J. McGrath, P. Woo, P. Hawkins, 2006, Archives of dermatology.

University of Dundee Mutations in GRHL 2 result in an autosomal-recessive ectodermal dysplasia syndrome

M. Simpson, J. R. McMillan, M. Akiyama, 2022 .

Lipoid proteinosis: identification of two novel mutations in the human ECM-1 gene and lack of genotype-phenotype correlation.

J. McGrath, A. Zlotogorski, L. Horev, 2009, Acta dermato-venereologica.

Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome.

J. McGrath, S. Ussar, I. Hart, 2008, The Journal of investigative dermatology.

Genetic risk factor in atopic dermatitis: "State of the art"

J. McGrath, J. Salas-Alanis, H. E. López-Lozano, 2007 .

Second cite

J. McGrath, 2006, Clinical and experimental dermatology.

Consensus reclassification of inherited epidermolysis bullosa and other disorders with skin fragility

C. Bodemer, J. Uitto, J. McGrath, 2020, The British journal of dermatology.

LEKTI is localized in lamellar granules, separated from KLK5 and KLK7, and is secreted in the extracellular spaces of the superficial stratum granulosum.

A. Ishida-Yamamoto, J. McGrath, G. Richard, 2005, The Journal of investigative dermatology.

A Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa.

J. R. McMillan, J. McGrath, C. Ainali, 2019, Journal of the American Academy of Dermatology.

Bone marrow transplant with post‐transplant cyclophosphamide for recessive dystrophic epidermolysis bullosa expands the related donor pool and permits tolerance of nonhaematopoietic cellular grafts

J. Wagner, J. Tolar, J. McGrath, 2019, The British journal of dermatology.

PORCN gene mutations and the protean nature of focal dermal hypoplasia

J. McGrath, S. Holden, J. Mellerio, 2009, The British journal of dermatology.

Focal dermal hypoplasia resulting from a new nonsense mutation, p.E300X, in the PORCN gene.

J. McGrath, V. Wessagowit, J. Lai-Cheong, 2008, Journal of dermatological science.

Finasteride is of uncertain utility in treating frontal fibrosing alopecia.

J. McGrath, D. Fenton, C. Tziotzios, 2016, Journal of the American Academy of Dermatology.

Differences in social class among psychotic patients at inpatient admission.

C. Muntaner, J. McGrath, A. Pulver, 1995, Psychiatric services.

Recurrent p.N767S mutation in the ATP2A2 gene in a Japanese family with haemorrhagic Darier disease clinically mimicking epidermolysis bullosa simplex with mottled pigmentation

J. McGrath, T. Hashimoto, T. Hamada, 2007, The British journal of dermatology.

Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.

E. Lane, R. Ray, S. DeArmond, 1996, Genes & development.

Detection of Novel LAMC 2 Mutations in Herlitz Junctional Epidermolysis Bullosa

J. Uitto, J. McGrath, J. Ortonne, 2007 .

MUTATION‐BASED PRENATAL DIAGNOSIS OF HERLITZ JUNCTIONAL EPIDERMOLYSIS BULLOSA

J. Uitto, J. McGrath, A. Christiano, 1997, Prenatal diagnosis.

Glycine substitution mutations in the type VII collagen gene (COL7A1) in dystrophic epidermolysis bullosa: implications for genetic counseling.

J. Uitto, J. McGrath, A. Christiano, 1997, The Journal of investigative dermatology.

Detection of Novel LAMC2 Mutations in Herlitz Junctional Epidermolysis Bullosa

J. Uitto, J. McGrath, J. Ortonne, 1997, Molecular medicine.

Genomic amplification of the human plakophilin 1 gene and detection of a new mutation in ectodermal dysplasia/skin fragility syndrome.

J. McGrath, N. Whittock, R. Eady, 2000, The Journal of investigative dermatology.

A Novel Genodermatosis Caused by Mutations in Plakophilin 1, A Structural Component of Desmosomes

J. McGrath, 1999, The Journal of dermatology.

A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in lethal (Herlitz) junctional epidermolysis bullosa.

J. R. McMillan, J. McGrath, J. Ortonne, 1995, Human molecular genetics.

Intrafamilial phenotypic heterogeneity of epidermolytic ichthyosis associated with a new missense mutation in keratin 10

M. Akiyama, J. McGrath, T. Takeichi, 2016, Clinical and experimental dermatology.

Acantholytic ectodermal dysplasia: clinicopathological study of a new desmosomal disorder

J. McGrath, A. South, R. Asial, 2009, The British journal of dermatology.

New KRT10 gene mutation underlying the annular variant of bullous congenital ichthyosiform erythroderma with clinical worsening during pregnancy

J. McGrath, N. Sheth, D. Greenblatt, 2007, The British journal of dermatology.

α6β4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia

J. McGrath, R. Eady, J. Mellerio, 2001 .

Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa.

J. Uitto, J. McGrath, A. Christiano, 1996, The Journal of investigative dermatology.

Epidermolysis bullosa pruriginosa: a case with prominent histopathologic inflammation.

J. McGrath, A. Ilchyshyn, R. Carr, 2013, JAMA dermatology.

Kindler syndrome: a focal adhesion genodermatosis

J. McGrath, P. Emanuel, C. Maari, 2009, The British journal of dermatology.

A heterozygous frameshift mutation in the V1 domain of keratin 5 in a family with Dowling-Degos disease.

J. McGrath, Yiwei Zhao, W. McLean, 2007, The Journal of investigative dermatology.

Ectodermal dysplasia‐skin fragility syndrome: Two new cases and review of this desmosomal genodermatosis

J. McGrath, J. Mellerio, A. Onoufriadis, 2020, Experimental dermatology.

A Scandinavian case of skin fragility, alopecia and cardiomyopathy caused by DSP mutations

J. McGrath, M. Virtanen, A. Vahlquist, 2014, Clinical and experimental dermatology.

Ectodermal dysplasia‐skin fragility syndrome due to a new homozygous internal deletion mutation in the PKP1 gene

J. McGrath, D. Murrell, C. Chow, 2012, The Australasian journal of dermatology.

Ectodermal dysplasia-skin fragility syndrome.

J. McGrath, J. Mellerio, 2010, Dermatologic clinics.

Novel truncating mutations in PKP1 and DSP cause similar skin phenotypes in two Brazilian families

J. McGrath, B. Gontijo, A. Tanaka, 2009, The British journal of dermatology.

Preimplantation genetic diagnosis of skin fragility–ectodermal dysplasia syndrome

J. McGrath, H. Fassihi, S. Pickering, 2006, The British journal of dermatology.

Molecular abnormalities of the desmosomal protein desmoplakin in human disease

J. McGrath, V. Wessagowit, J. E. Lai Cheong, 2005, Clinical and experimental dermatology.

Genotype–phenotype correlation in skin fragility‐ectodermal dysplasia syndrome resulting from mutations in plakophilin 1

J. McGrath, R. Eady, T. Hashimoto, 2002, Experimental dermatology.

Genomic organization and amplification of the human plakoglobin gene (JUP)

J. McGrath, N. Whittock, R. Eady, 2000, Experimental dermatology.

Oral and gastrointestinal manifestations of epidermolysis bullosa

J. McGrath, R. Eady, A. O'connor, 1992, The Lancet.

Autosomal recessive epidermolysis bullosa simplex due to loss of BPAG1-e expression.

J. McGrath, M. Parsons, J. Mellerio, 2012, The Journal of investigative dermatology.

Epidermolysis bullosa

J. McGrath, I. Chapple, C. Has, 2020, Nature Reviews Disease Primers.

Expression and glycosylation of MUC1 in epidermolysis bullosa‐associated and sporadic cutaneous squamous cell carcinomas

J. McGrath, E. Healy, R. Mallipeddi, 2004, The British journal of dermatology.

Inherited palmoplantar keratodermas: the heart of the matter

A. Freeman, J. McGrath, C. Perrett, 2018, Clinical and experimental dermatology.

Cutaneous Squamous Cell Carcinoma in Epidermolysis Bullosa: a 28-year Retrospective Study

J. McGrath, J. Mellerio, A. Robson, 2021, Acta dermato-venereologica.

Identification of Rigosertib for the Treatment of Recessive Dystrophic Epidermolysis Bullosa–Associated Squamous Cell Carcinoma

J. McGrath, A. Hovnanian, M. Prisco, 2019, Clinical Cancer Research.

Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa: best clinical practice guidelines

J. McGrath, D. Murrell, A. Diem, 2016, The British journal of dermatology.

No evidence that human papillomavirus is responsible for the aggressive nature of recessive dystrophic epidermolysis bullosa-associated squamous cell carcinoma.

J. McGrath, C. Proby, H. Pfister, 2010, The Journal of investigative dermatology.

A recurrent homozygous nonsense mutation within the LAMA3 gene as a cause of Herlitz junctional epidermolysis bullosa in patients of Pakistani ancestry: evidence for a founder effect.

J. Uitto, J. McGrath, A. Christiano, 1996, The Journal of investigative dermatology.

The presence of autoantibody to recombinant lipocortin‐I in patients with psoriasis and psoriatic arthritis

J. McGrath, R. Flower, N. Goulding, 1990, The British journal of dermatology.

Time series integrative analysis of RNA-Seq and miRNA expression data reveals key biologic wound healing pathways in keloid-prone individuals

J. McGrath, M. Tang, C. Ainali, 2018 .

Twenty top tips to triumph in dermatology

J. McGrath, A. Finlay, C. Griffiths, 2012, British Journal of Dermatology.

Cord Blood‐Derived Stem Cells Suppress Fibrosis and May Prevent Malignant Progression in Recessive Dystrophic Epidermolysis Bullosa

J. McGrath, A. Christiano, M. Cairo, 2018, Stem cells.

Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.

C. Mathew, J. McGrath, N. Whittock, 1999, The Journal of investigative dermatology.

Metabolic syndrome and comorbidities in patients with psoriasis: a community-based case-control study from the Nagahama cohort in Japan

T. Kawaguchi, J. McGrath, F. Matsuda, 2022, European Journal of Dermatology.

Transcriptomic Analysis of Blaschko-Linear Psoriasis Reveals Shared and Distinct Features with Psoriasis Vulgaris.

J. McGrath, C. Ainali, K. Reich, 2021, The Journal of investigative dermatology.

PLACK syndrome resulting from a new homozygous insertion mutation in CAST.

J. McGrath, C. Chiaverini, Lu Liu, 2017, Journal of dermatological science.

Olmsted syndrome in an Indian male with a new de novo mutation in TRPV3

J. McGrath, R. George, R. Pramanik, 2016, The British journal of dermatology.

Olmsted syndrome in an Iranian boy with a new de novo mutation in TRPV3

J. McGrath, A. Kariminejad, F. Abdollahimajd, 2014, Clinical and experimental dermatology.

Erythrokeratoderma Variabilis Caused by p.Gly45Glu in Connexin 31: Importance of the First Extracellular Loop Glycine Residue for Gap Junction Function.

M. Simpson, M. Akiyama, H. Shimizu, 2016, Acta dermato-venereologica.

Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.

J. McGrath, R. Eady, J. Mellerio, 1999, The Journal of investigative dermatology.

Schizophrenia: gender and familial risk.

J. McGrath, A. Pulver, P. Wolyniec, 1992, Journal of psychiatric research.

Prevalence, pathophysiology and management of itch in epidermolysis bullosa *

J. McGrath, M. Steinhoff, J. Mellerio, 2020, The British journal of dermatology.

Poikiloderma with neutropenia, Clericuzio type, in a family from Morocco

J. McGrath, D. Lacombe, F. Boralevi, 2008, American journal of medical genetics. Part A.

Recurrent KRT10 Variant in Ichthyosis with Confetti

M. Akiyama, J. McGrath, Y. Okuno, 2020, Acta Dermato-Venereologica.

Predictive phenotyping of inherited ichthyosis by next‐generation DNA sequencing

C. Flohr, J. McGrath, J. Mellerio, 2017, The British journal of dermatology.

Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis.

M. Simpson, J. R. McMillan, M. Akiyama, 2016, The Journal of investigative dermatology.

Profilaggrin, dry skin, and atopic dermatitis risk: size matters.

J. McGrath, 2012, The Journal of investigative dermatology.

Skin barrier genetics: filaggrin and the dermatologist

J. McGrath, 2011 .

Familial progressive hyper‐ and hypopigmentation and malignancy in two families with new mutations in KITLG

J. McGrath, T. Cole, T. Takeichi, 2015, Clinical and experimental dermatology.

Autoinflammatory keratinization diseases.

M. Akiyama, J. McGrath, T. Takeichi, 2017, The Journal of allergy and clinical immunology.

Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy.

P. Fortina, J. Uitto, J. McGrath, 2017, Matrix biology : journal of the International Society for Matrix Biology.

Pyloric atresia-junctional epidermolysis bullosa syndrome showing novel c.4505-4508insACTC mutations in integrin b4 gene (ITGB4).

J. McGrath, Y. Aslan, E. Kalay, 2015, Turkish Journal of Pediatrics.

Bi-allelic nonsense mutations inABHD5 underlie a mild phenotype of Dorfman-Chanarin syndrome.

M. Simpson, M. Akiyama, J. McGrath, 2016, Journal of dermatological science.

Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa.

J. Uitto, J. McGrath, M. Prisco, 2017, The Journal of investigative dermatology.

enhances premature termination codon read-through in COL7A1 and expression of full length type VII collagen: potential therapy for recessive dystrophic epidermolysis bullosa

J. Uitto, J. McGrath, M. Prisco, 2017 .

Extracellular matrix protein 1 inhibits the activity of matrix metalloproteinase 9 through high‐affinity protein/protein interactions

J. Uitto, J. McGrath, A. Fertala, 2006, Experimental dermatology.

Extracellular matrix protein 1 interacts with the domain III of fibulin-1C and 1D variants through its central tandem repeat 2.

J. Uitto, J. McGrath, A. Fertala, 2005, Biochemical and biophysical research communications.

ABE8e adenine base editor precisely and efficiently corrects a recurrent COL7A1 nonsense mutation

Gregory A. Newby, J. McGrath, J. Jacków, 2022, Scientific Reports.

Collagen VII maintains proteostasis in dermal fibroblasts by scaffolding TANGO1 cargo

J. McGrath, Mei Chen, A. South, 2022, Matrix biology : journal of the International Society for Matrix Biology.

Characterization of IgG autoantibodies to extracellular matrix protein 1 in lichen sclerosus

J. McGrath, S. Neill, M. Black, 2004, Clinical and experimental dermatology.

Heparan sulphate proteoglycan and wound healing in skin

J. McGrath, R. Eady, 1997, The Journal of pathology.

Epidermolysis bullosa pruriginosa: dystrophic epidermolysis bullosa with distinctive clinicopathological features

J. McGrath, R. Eady, O. Schofield, 1994, The British journal of dermatology.

Mitten deformity in severe generalized recessive dystrophic epidermolysis bullosa: histological, immunofluorescence, and ultrastructural study

J. McGrath, R. Eady, B. Mayou, 1992, Journal of cutaneous pathology.

Deficient stratum corneum intercellular lipid in a Japanese patient with lamellar ichthyosis with a homozygous deletion mutation in SDR9C7

M. Simpson, M. Akiyama, H. Shimizu, 2017, The British journal of dermatology.

University of Dundee Lysyl hydroxylase 3 localizes to epidermal basement membrane and Is reduced in patients with Recessive Dystrophic Epidermolysis

J. Tolar, J. R. McMillan, J. McGrath, 2017 .

Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa

J. Tolar, J. R. McMillan, J. McGrath, 2015, PloS one.

Psychotic inpatients' social class and their first admission to state or private psychiatric Baltimore hospitals.

C. Muntaner, J. McGrath, A. Pulver, 1994, American journal of public health.

Infantile systemic hyalinosis associated with a putative splice‐site mutation in the ANTXR2 gene

J. McGrath, D. Chirla, I. Tosi, 2012, Clinical and experimental dermatology.

Spectrum of mutations in the ANTXR2 (CMG2) gene in infantile systemic hyalinosis and juvenile hyaline fibromatosis

J. McGrath, K. Amr, H. Afifi, 2010, The British journal of dermatology.

An indirect test of the new mutation hypothesis associating advanced paternal age with the etiology of schizophrenia

J. McGrath, G. Nestadt, A. Pulver, 2004, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Alopecia, palmoplantar keratoderma, skin fragility and follicular hyperkeratoses due to compound heterozygous mutations in desmoplakin

J. McGrath, Lu Liu, B. Tekin, 2017, The Australasian journal of dermatology.

Compound heterozygous mutations in desmoplakin cause skin fragility and woolly hair

J. McGrath, N. Wilson, C. Moss, 2012, The British journal of dermatology.

Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition.

J. R. McMillan, J. Uitto, J. McGrath, 1996, The American journal of pathology.

Novel homozygous missense mutation in NT5C2 underlying hereditary spastic paraplegia SPG45

M. Simpson, J. McGrath, A. Onoufriadis, 2017, American journal of medical genetics. Part A.

Congenital Anonychia and Uncombable Hair Syndrome: Coinheritance of Homozygous Mutations in RSPO4 and PADI3.

M. Simpson, J. McGrath, R. Betz, 2017, Journal of Investigative Dermatology.

Complete maternal isodisomy of chromosome 3 in a child with recessive dystrophic epidermolysis bullosa but no other phenotypic abnormalities.

J. McGrath, H. Fassihi, J. Mellerio, 2006, The Journal of investigative dermatology.

A homozygous nonsense mutation in the alpha 3 chain gene of laminin 5 (LAMA3) in Herlitz junctional epidermolysis bullosa: prenatal exclusion in a fetus at risk.

C. Rodeck, J. Uitto, J. McGrath, 1995, Genomics.

Genetic basis of lethal junctional epidermolysis bullosa in an affected fetus: Implications for prenatal diagnosis in one family

C. Rodeck, J. R. McMillan, J. Uitto, 1995, Prenatal diagnosis.

New insights into hereditary angio‐oedema: Molecular diagnosis and therapy

J. McGrath, N. Nagy, C. Grattan, 2010, The Australasian journal of dermatology.

Clinical features and WNT10A mutations in seven unrelated cases of Schöpf–Schulz–Passarge syndrome

J. McGrath, J. Mellerio, E. Wedgeworth, 2014, The British journal of dermatology.

A retrospective analysis of tissue-fixed immunoreactants from skin biopsies maintained in Michel's medium.

J. McGrath, M. Black, B. Bhogal, 1994, Dermatology.

Beneficial effect of ustekinumab in familial pityriasis rubra pilaris with a new missense mutation in CARD14

J. McGrath, N. Levell, L. Liu, 2016, The British journal of dermatology.

Epidermolysis bullosa (EB) pruriginosa associated with recessive homozygous mutations in COL7A1: case report of a rare EB genotype–phenotype

J. McGrath, C. O’Connor, C. Heffron, 2020, Journal of the European Academy of Dermatology and Venereology : JEADV.

The filaggrin story: novel insights into skin-barrier function and disease.

Jouni Uitto, J. Uitto, J. McGrath, 2008, Trends in molecular medicine.

Five new homozygous mutations in the KIND1 gene in Kindler syndrome.

Vinod K. Sharma, J. McGrath, R. Kumar, 2007, The Journal of investigative dermatology.

Naevus sebaceus: a mosaic RASopathy

J. McGrath, C. Griffiths, C. Griffiths, 2014, Clinical and experimental dermatology.

WNT10A, dermatology and dentistry

J. McGrath, A. Onoufriadis, P. Kantaputra, 2021, The British journal of dermatology.

The Control of Seborrhoeic Dermatitis and Dandruff by Antipityrosporal Drugs

J. McGrath, G. Murphy, 1991, Drugs.

Desmosomes exhibit site‐specific features in human palm skin

J. McGrath, R. Eady, P. Dopping-Hepenstal, 2003, Experimental dermatology.

Alterations in desmosome size and number coincide with the loss of keratinocyte cohesion in skin with homozygous and heterozygous defects in the desmosomal protein plakophilin 1.

J. R. McMillan, M. Akiyama, H. Shimizu, 2003, The Journal of investigative dermatology.

Mutations in the 180–kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa

J. R. McMillan, J. Uitto, J. McGrath, 1995, Nature Genetics.

Structure and function of skin, hair and nails

J. McGrath, J. Lai-Cheong, 2009, Medicine.

Severity Scoring of Atopic Dermatitis: The SCORAD Index

Julia Brasch, S. Cambiaghi, G. Tadini, 1993 .

Chapter 3 Anatomy and Organization of Human Skin

J. McGrath, R. Eady, F. M. Pope, 2004 .

Psoriasis bullosa acquisita

J. McGrath, R. Eady, T. Hashimoto, 2002, Clinical and experimental dermatology.

Autoantibodies to extracellular matrix protein 1 in lichen sclerosus

J. McGrath, D. D'cruz, M. Black, 2003, The Lancet.

Development of antigen-specific ELISA for circulating autoantibodies to extracellular matrix protein 1 in lichen sclerosus.

J. McGrath, D. D'cruz, G. Hughes, 2004, The Journal of clinical investigation.

University of Dundee Development of antigen-specific ELISA for circulating autoantibodies to extracellular matrix protein 1 in lichen

J. McGrath, D. D'cruz, G. Hughes, 2004 .

Novel and recurrent FERMT1 gene mutations in Kindler syndrome.

J. McGrath, M. Lens, A. Zlotogorski, 2011, Acta dermato-venereologica.

Unusual molecular findings in Kindler syndrome

J. McGrath, H. Fassihi, C. Pourreyron, 2007, The British journal of dermatology.

Genetic Blistering Diseases

J. McGrath, 2016 .

Molecular basis of lipoid proteinosis in a Libyan family

J. McGrath, T. Hamada, N. Oyama, 2003, Clinical and experimental dermatology.

Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa.

E. Bauer, H. Shimizu, J. Uitto, 2000, Journal of the American Academy of Dermatology.

The role of fibroblasts in tissue engineering and regeneration

J. McGrath, T. Wong, H. Navsaria, 2007, The British journal of dermatology.

Three-dimensional imaging reveals major changes in skin microvasculature in lipoid proteinosis and lichen sclerosus.

J. McGrath, A. Kozłowska, S. Jabłońska, 2005, Journal of dermatological science.

Molecular basis and inheritance patterns of amyloidosis cutis dyschromica

M. Simpson, J. McGrath, A. Onoufriadis, 2020, Clinical and experimental dermatology.

The molecular skin pathology of familial primary localized cutaneous amyloidosis

J. McGrath, A. South, N. Nagy, 2010, Experimental dermatology.

Novel IL31RA gene mutation and ancestral OSMR mutant allele in familial primary cutaneous amyloidosis

S. Tsai, J. McGrath, Ming-Wei Lin, 2010, European Journal of Human Genetics.

Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis.

M. Akiyama, H. Shimizu, J. McGrath, 2008, American journal of human genetics.

Semi-dominant GPNMB mutations in amyloidosis cutis dyschromica.

M. Simpson, J. Tolar, J. McGrath, 2019, The Journal of investigative dermatology.

New insight into mechanisms of pruritus from molecular studies on familial primary localized cutaneous amyloidosis

J. McGrath, F. Palisson, M. Hide, 2009, The British journal of dermatology.

Familial primary localized cutaneous amyloidosis in Brazil.

J. McGrath, K. Arita, T. Sakuma, 2009, Archives of dermatology.

Systematised naevus sebaceus resulting from post‐zygotic mutation in HRAS

J. McGrath, H. Al-Ajmi, M. Hide, 2017, The Australasian journal of dermatology.

A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.

J. McGrath, H. Markus, T. Hashimoto, 2010, The Journal of investigative dermatology.

Familial primary localized cutaneous amyloidosis results from either dominant or recessive mutations in OSMR.

M. Akiyama, J. McGrath, R. Betz, 2015, Acta dermato-venereologica.

Frontal fibrosing alopecia: reflections and hypotheses on aetiology and pathogenesis

M. Simpson, J. McGrath, D. Fenton, 2016, Experimental dermatology.

Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.

E. Bauer, H. Shimizu, J. Uitto, 2014, Journal of the American Academy of Dermatology.

Gene mutations, great expectations.

J. McGrath, 2001, Clinics in dermatology.

Genetics of Scars and Keloids

J. McGrath, Hsing-San Yang, C. Hsu, 2019 .

Recurrent heterozygous missense mutation, p.Gly573Ser, in the TRPV3 gene in an Indian boy with sporadic Olmsted syndrome

M. Simpson, J. McGrath, M. Ramam, 2012, The British journal of dermatology.

Generation and clinical application of gene modified autologous epidermal sheets in Netherton syndrome - lessons learned from a phase 1 trial.

N. Sebire, J. McGrath, F. Farzaneh, 2019, Human Gene Therapy.

Gene therapies for inherited skin disorders.

J. McGrath, W. Qasim, A. Abdul‐Wahab, 2014, Seminars in cutaneous medicine and surgery.

Inherited epidermolysis bullosa comes into the new millenium: a revised classification system based on current knowledge of pathogenetic mechanisms and the clinical, laboratory, and epidemiologic findings of large, well-defined patient cohorts.

J. McGrath, J. Fine, R. Eady, 2000, Journal of the American Academy of Dermatology.

Non‐specific scalp crusting as a presenting feature of Brunsting‐Perry cicatricial pemphigoid

J. McGrath, E. Poon, J. McGrath, 1999, Journal of the European Academy of Dermatology and Venereology : JEADV.

Anatomy and Organization of Human Skin

J. McGrath, R. Eady, F. M. Pope, 2008 .

Prenatal diagnosis for inherited skin diseases.

J. McGrath, R. Eady, G. Ashton, 2000, Clinics in dermatology.

Limbal stem cell deficiency and ocular phenotype in ectrodactyly-ectodermal dysplasia-clefting syndrome caused by p63 mutations.

S. Ferrari, E. Di Iorio, V. Barbaro, 2012, Ophthalmology.

Molecular basis of EEC (ectrodactyly, ectodermal dysplasia, clefting) syndrome: five new mutations in the DNA‐binding domain of the TP63 gene and genotype–phenotype correlation

J. McGrath, J. Mellerio, D. Coman, 2010, The British journal of dermatology.

Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa

J. McGrath, R. Eady, J. Mellerio, 2003, The British journal of dermatology.

Cultured keratinocyte allografts and wound healing in severe recessive dystrophic epidermolysis bullosa.

J. McGrath, I. Leigh, R. Eady, 1993, Journal of the American Academy of Dermatology.

Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression.

J. McGrath, I. Leigh, R. Eady, 1993, The Journal of investigative dermatology.

Epidermolysis bullosa simplex Dowling-Meara: troublesome blistering and pruritus in an adult patient.

J. McGrath, N. Burrows, R. Eady, 1993, Dermatology.

Intracellular expression of type VII collagen during wound healing in severe recessive dystrophic epidermolysis bullosa and normal human skin

J. McGrath, I. Leigh, I. Leigh, 1992, The British journal of dermatology.

PLACK syndrome: the penny dropped

J. McGrath, J. Mellerio, L. Ozoemena, 2020, Clinical and experimental dermatology.

A novel mutation in ITGB4 gene in a newborn with epidermolysis bullosa, pyloric atresia, and aplasia cutis congenita

J. McGrath, C. Durmaz, B. Atasay, 2020, Egyptian Journal of Medical Human Genetics.

Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen

J. McGrath, K. Purdie, A. Storey, 2009, Journal of Cell Science.

Autosomal dominant junctional epidermolysis bullosa

J. McGrath, R. Graham, J. Mellerio, 2009, The British journal of dermatology.

Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression.

J. McGrath, I. Leigh, H. Fassihi, 2007, The Journal of investigative dermatology.

Reduced expression of insulin-like growth factor-binding protein-3 (IGFBP-3) in Squamous cell carcinoma complicating recessive dystrophic epidermolysis bullosa.

J. McGrath, R. Eady, R. Mallipeddi, 2004, The Journal of investigative dermatology.

Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa.

J. McGrath, C. Goh, Lu Liu, 2007, Journal of the American Academy of Dermatology.

Three cases of de novo dominant dystrophic epidermolysis bullosa associated with the mutation G2043R in COL7A1

J. McGrath, R. Eady, J. Mellerio, 2001, Clinical and experimental dermatology.

Dominant dystrophic epidermolysis bullosa presenting as familial nail dystrophy.

J. McGrath, J. Mellerio, A. Ilchyshyn, 2001, Clinical and experimental dermatology.

The molecular basis of dystrophic epidermolysis bullosa in Mexico

J. McGrath, J. Salas-Alanis, M. Amaya-guerra, 2000, International journal of dermatology.

Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa.

J. Uitto, J. McGrath, A. Christiano, 1996, The Journal of investigative dermatology.

Increased risk of squamous cell carcinoma in junctional epidermolysis bullosa

J. McGrath, R. Eady, R. Mallipeddi, 2004, Journal of the European Academy of Dermatology and Venereology : JEADV.

Investigational Treatments for Epidermolysis Bullosa

J. McGrath, Wei-Ting Tu, P. Hou, 2021, American Journal of Clinical Dermatology.

Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa.

J. McGrath, E. Rashidghamat, 2017, Intractable & rare diseases research.

Current topics in Epidermolysis bullosa: Pathophysiology and therapeutic challenges.

J. McGrath, K. Tamai, K. Natsuga, 2021, Journal of dermatological science.

Progress in Epidermolysis bullosa research: summary of DEBRA International Research Conference 2012.

J. Uitto, J. McGrath, L. Bruckner-Tuderman, 2013, The Journal of investigative dermatology.

Hereditary diseases of desmosomes.

J. McGrath, J A McGrath, 1999, Journal of dermatological science.

The natural history of laryngo‐onycho‐cutaneous syndrome: A case series of six pediatric patients and literature review

J. McGrath, J. Mellerio, M. Laimer, 2021, Pediatric dermatology.

An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.

Jonathan E. Moore, J. McGrath, C. Munro, 2003, Human molecular genetics.

Immunohistochemical analysis of the skin in junctional epidermolysis bullosa using laminin 5 chain specific antibodies is of limited value in predicting the underlying gene mutation

R. Burgeson, J. R. McMillan, J. McGrath, 1997, The British journal of dermatology.

Expression of mutant p53 gene in squamous carcinoma arising in patients with recessive dystrophic epidermolysis bullosa

J. McGrath, C. Hobbs, S. Slater, 1992, Histopathology.

Clinical trial of ABCB5+ mesenchymal stem cells for recessive dystrophic epidermolysis bullosa

J. Tolar, J. McGrath, C. Ebens, 2021, JCI insight.

Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle‐controlled trial

J. McGrath, J. Mellerio, G. Petrof, 2013, The British journal of dermatology.

Bone marrow transplantation for recessive dystrophic epidermolysis bullosa.

Jakub Tolar, John E Wagner, Mei Chen, 2010, The New England journal of medicine.

Whole‐exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory

M. Simpson, J. R. McMillan, M. Akiyama, 2015, The British journal of dermatology.

Blistering skin diseases: a bridge between dermatopathology and molecular biology

J. McGrath, N. Nagy, 2010, Histopathology.

Hemidesmosomes show abnormal association with the keratin filament network in junctional forms of epidermolysis bullosa.

J. R. McMillan, J. McGrath, R. Eady, 1998, The Journal of investigative dermatology.

Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa.

R. Burgeson, H. Shimizu, T. Nishikawa, 1997, Archives of dermatology.

The role of immunohistochemistry in the diagnosis of the non-lethal forms of junctional epidermolysis bullosa.

J. McGrath, R. Eady, J. McGrath, 1997, Journal of dermatological science.

First trimester DNA‐based exclusion of recessive dystrophic epidermolysis bullosa from chorionic villus sampling

C. Rodeck, J. Uitto, J. McGrath, 1996, The British journal of dermatology.

Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa.

J. Uitto, J. McGrath, A. Christiano, 1995, The Journal of investigative dermatology.

Ultrastructural clues to genetic disorders of skin: the dermal-epidermal junction.

J. R. McMillan, J. McGrath, R. Eady, 1994, The Journal of investigative dermatology.

Type VII collagen regulates tumour expression of organic anion transporting polypeptide OATP 1 B 3 , promotes front to rear polarity and increases structural organisation in 3 D spheroid cultures of recessive dystrophic epidermolysis bullosa tumour keratinocytes

J. McGrath, I. Leigh, D. Murrell, 2017 .

Type VII collagen regulates expression of OATP1B3, promotes front-to-rear polarity and increases structural organisation in 3D spheroid cultures of RDEB tumour keratinocytes

J. McGrath, I. Leigh, D. Murrell, 2014, Journal of Cell Science.

Transient bullous dermolysis of the newborn: a disorder of type VII collagen secretion?

J. McGrath, R. Eady, O. Schofield, 1991 .

University of Groningen Management of cutaneous squamous cell carcinoma in patients with epidermolysis bullosa

J. McGrath, D. Murrell, A. Diem, 2020 .

Vitamin C concentrations in patients with epidermolysis bullosa

J. McGrath, J. Mellerio, D. Greenblatt, 2022, The British journal of dermatology.

Genomics‐based treatment in a patient with two overlapping heritable skin disorders: Epidermolysis bullosa and acrodermatitis enteropathica

J. Uitto, J. McGrath, A. Kariminejad, 2020, Human mutation.

The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen

R. Hofstra, J. McGrath, H. Scheffer, 2010, Journal of Medical Genetics.

A recurrent laminin 5 mutation in British patients with lethal (Herlitz) junctional epidermolysis bullosa: evidence for a mutational hotspot rather than propagation of an ancestral allele

J. Uitto, J. McGrath, L. Pulkkinen, 1997, The British journal of dermatology.

A homozygous deletion mutation in the gene encoding the 180-kDa bullous pemphigoid antigen (BPAG2) in a family with generalized atrophic benign epidermolysis bullosa.

J. Uitto, J. McGrath, A. Christiano, 1996, The Journal of investigative dermatology.

Matrix metalloproteinase‐7 activates heparin‐binding epidermal growth factor‐like growth factor in cutaneous squamous cell carcinoma

J. McGrath, R. Grenman, R. Ala-aho, 2010, The British journal of dermatology.

Moderation of phenotypic severity in dystrophic and junctional forms of epidermolysis bullosa through in-frame skipping of exons containing non-sense or frameshift mutations.

J. R. McMillan, J. McGrath, R. Eady, 1999, The Journal of investigative dermatology.

The Dermal-Epidermal Basement Membrane Zone in Cutaneous Wound Healing

J. Uitto, J. McGrath, A. Mauviel, 1988 .

A new homozygous nonsense mutation in LAMA3A underlying laryngo‐onycho‐cutaneous syndrome

J. McGrath, A. Kariminejad, L. Ozoemena, 2013, The British journal of dermatology.

Translational benefits from research on rare genodermatoses

J. McGrath, 2004, The Australasian journal of dermatology.

Complexity of Transcriptional and Translational Interference of Laminin-332 Subunits in Junctional Epidermolysis Bullosa with LAMB3 Mutations

J. McGrath, Peng-Chieh Chen, K. Natsuga, 2021, Acta dermato-venereologica.

A de novo COL17A1 splicesite mutation causing a 7-bp deletion in a Taiwanese patient with junctional epidermolysis bullosa

J. McGrath, Peng-Chieh Chen, M. Tang, 2021, European Journal of Dermatology.

Prenatal diagnosis of epidermolysis bullosa.

Hiva Fassihi, J. McGrath, H. Fassihi, 2010, Dermatologic clinics.

Prenatal Diagnosis of Genetic Skin Disease

J. McGrath, R. Eady, 2008 .

Single cell PCR amplification of microsatellites flanking the COL7A1 gene and suitability for preimplantation genetic diagnosis of Hallopeau-Siemens recessive dystrophic epidermolysis bullosa.

J. McGrath, H. Fassihi, P. Renwick, 2006, Journal of dermatological science.

Novel mutations in the LAMB3 gene shared by two Japanese unrelated families with Herlitz junctional epidermolysis bullosa, and their application for prenatal testing.

H. Shimizu, T. Nishikawa, J. Uitto, 1998, The Journal of investigative dermatology.

Accumulation of Krebs cycle intermediates and over-expression of HIF1alpha in tumours which result from germline FH and SDH mutations.

J R Griffiths, R Poulsom, T. Hunt, 2005, Human molecular genetics.

Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23.

M. Simpson, S. Blumen, J. Tolar, 2017, American journal of human genetics.

Homozygous variegate porphyria: identification of mutations on both alleles of the protoporphyrinogen oxidase gene in a severely affected proband.

J. McGrath, R. Graham, A. Christiano, 1998, The Journal of investigative dermatology.

Desquamative Enteropathy and Pyloric Atresia Without Skin Disease Caused by a Novel Intracellular β4 Integrin Mutation

J. McGrath, A. Perez-Atayde, M. Thomson, 2008, Journal of pediatric gastroenterology and nutrition.

Blaschko‐linear lichen planus: Clinicopathological and genetic analysis

M. Simpson, J. McGrath, A. Onoufriadis, 2020, The Journal of dermatology.

Consanguinity and Double Recessive Gene Pathology: Cutis Laxa (PYCR1) and Nephrotic Syndrome (PLCE1).

M. Simpson, J. McGrath, A. Onoufriadis, 2019, JAMA dermatology.

Homozygous acceptor splice site mutation in DSG1 disrupts plakoglobin localization and results in keratoderma and skin fragility.

M. Simpson, J. McGrath, M. Parsons, 2017, Journal of dermatological science.

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

O. Sarig, N. Shomron, M. Simpson, 2013, Nature Genetics.

Molecular epidemiology of non‐syndromic autosomal recessive congenital ichthyosis in a Middle‐Eastern population

O. Sarig, N. Shomron, R. Bergman, 2021, Experimental dermatology.

Genotype–phenotype correlation in a large English cohort of patients with autosomal recessive ichthyosis

M. Simpson, J. Uitto, J. McGrath, 2019, The British journal of dermatology.

ESDR 50th Anniversary Lecture summary: The past and future of rare skin disease research/therapy.

J. McGrath, A. Onoufriadis, 2022, The Journal of investigative dermatology.

A decade of next‐generation sequencing in genodermatoses: the impact on gene discovery and clinical diagnostics *

J. McGrath, A. Onoufriadis, B. Doolan, 2020, The British journal of dermatology.

Advances in the genetic understanding of hypohidrotic ectodermal dysplasia

J. McGrath, T. Higashino, J. Y. Lee, 2017 .

Pathogenesis of solar urticaria: Classic perspectives and emerging concepts

J. McGrath, H. Fassihi, R. Sarkany, 2021, Experimental dermatology.

3D In Vitro Model of a Functional Epidermal Permeability Barrier from Human Embryonic Stem Cells and Induced Pluripotent Stem Cells

R. Vaughan, J. McGrath, M. Arno, 2014, Stem cell reports.

3D In VitroModel of a Functional Epidermal Permeability Barrier fromHuman Embryonic Stem Cells and Induced Pluripotent Stem Cells

J. McGrath, M. Arno, D. Crumrine, 2014 .

3 D In VitroModel of a Functional Epidermal Permeability Barrier fromHuman Embryonic Stem Cells and Induced Pluripotent Stem Cells

R. Vaughan, J. McGrath, M. Arno, 2014 .

Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation

M. Akiyama, J. McGrath, Y. Okuno, 2022, Frontiers in Immunology.

Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma.

J. McGrath, N. Whittock, R. Eady, 2002, The Journal of investigative dermatology.

The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope.

R. Friedman, J. McGrath, A. Christiano, 1997, American journal of human genetics.

Ancestral patterns of recessive dystrophic epidermolysis bullosa mutations in Hispanic populations suggest sephardic ancestry

Christopher R. Gignoux, F. Montinaro, M. Metspalu, 2021, American journal of medical genetics. Part A.

Functional Variants in DPYSL2 Sequence Increase Risk of Schizophrenia and Suggest a Link to mTOR Signaling

A. McCallion, J. McGrath, D. Avramopoulos, 2014, G3: Genes, Genomes, Genetics.

Next generation sequencing identifies double homozygous mutations in two distinct genes (EXPH5 and COL17A1) in a patient with concomitant simplex and junctional epidermolysis bullosa

J. Uitto, J. McGrath, A. Kariminejad, 2018, Human mutation.

The Molecular Revolution in Cutaneous Biology: Era of Molecular Diagnostics for Inherited Skin Diseases.

J. McGrath, 2017, The Journal of investigative dermatology.

Kindler epidermolysis bullosa-like skin phenotype and downregulated basement membrane zone gene expression in poikiloderma with neutropenia and a homozygous USB1 mutation.

J. Uitto, J. McGrath, A. Kariminejad, 2021, Matrix biology : journal of the International Society for Matrix Biology.

Fine mapping on chromosome 10q22-q23 implicates Neuregulin 3 in schizophrenia.

J. McGrath, D. Avramopoulos, M. Fallin, 2009, American journal of human genetics.

Implicates Neuregulin 3 in Schizophrenia

J. McGrath, D. Avramopoulos, M. Fallin, 2009 .

Infantile acquired zinc deficiency resembling acrodermatitis enteropathica

J. McGrath, A. Chew, D. Atherton, 2005, Clinical and experimental dermatology.

Activating CARD14 Mutations Are Associated with Generalized Pustular Psoriasis but Rarely Account for Familial Recurrence in Psoriasis Vulgaris.

J. McGrath, R. Trembath, F. Capon, 2015, The Journal of investigative dermatology.

Genetic heterogeneity in schizophrenia II: conditional analyses of affected schizophrenia sibling pairs provide evidence for an interaction between markers on chromosome 8p and 14q

J. McGrath, G. Nestadt, Y. Chiu, 2002, Molecular Psychiatry.

Multiple variants aggregate in the neuregulin signaling pathway in a subset of schizophrenia patients

P. Wong, J. McGrath, D. Avramopoulos, 2013, Translational Psychiatry.

Induced Pluripotent Stem Cell Differentiation and Three-Dimensional Tissue Formation Attenuate Clonal Epigenetic Differences in Trichohyalin.

Jeffrey B. Cheng, A. Farcomeni, M. Simpson, 2016, Stem cells and development.

Transformation‐specific matrix metalloproteinases (MMP)‐7 and MMP‐13 are expressed by tumour cells in epidermolysis bullosa‐associated squamous cell carcinomas

H. Shimizu, J. McGrath, V. Kähäri, 2008, The British journal of dermatology.

Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne

T. Spector, Sue Hood, C. Curtis, 2018, Nature Communications.

EMSY expression affects multiple components of the skin barrier with relevance to atopic dermatitis

J. Reményi, A. Lamond, A. Prescott, 2019, The Journal of allergy and clinical immunology.

Germline mutation in ATR in autosomal- dominant oropharyngeal cancer syndrome.

Yuhki Yanase, Michihiro Hide, Sheila A Fisher, 2012, American journal of human genetics.

The potential of gene therapy for recessive dystrophic epidermolysis bullosa *

J. McGrath, S. Lwin, K. S. Subramaniam, 2021, The British journal of dermatology.

Mutations in FERMT1 in Kindler syndrome implicate a role for fermitin family homolog 1 in epidermal stem cell maintenance and integrin activation

J. McGrath, M. Parsons, A. Tanaka, 2009 .

α4/α9 Integrins Coordinate Epithelial Cell Migration Through Local Suppression of MAP Kinase Signaling Pathways

Hannah J. Maple, J. McGrath, R. Steiner, 2021, Frontiers in Cell and Developmental Biology.

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.

H. Brunner, F. McKeon, J. McGrath, 2001, Human molecular genetics.

Familial multiple cutaneous and uterine leiomyomas associated with papillary renal cell cancer

J. McGrath, A. Martinez-Mir, T. Wong, 2005, Clinical and experimental dermatology.

Pityriasis Rubra Pilaris Type V as an Autoinflammatory Disease by CARD14 Mutations

M. Akiyama, H. Shimizu, J. McGrath, 2017, JAMA dermatology.

Absence of R42X and R635X mutations in the LAMB3 gene in 12 Japanese patients with junctional epidermolysis bullosa

R. Burgeson, H. Shimizu, T. Saida, 1997, Archives of Dermatological Research.

Mutational hotspots in the LAMB3 gene in the lethal (Herlitz) type of junctional epidermolysis bullosa.

J. Uitto, J. McGrath, A. Christiano, 1996, Human molecular genetics.

Immunoelectron microscopy of skin basement membrane zone antigens: a pre-embedding method using 1-nm immunogold with silver enhancement.

H. Shimizu, J. McGrath, R. Eady, 1994, Acta dermato-venereologica.

Haploinsufficiency for AAGAB causes clinically heterogeneous forms of punctate palmoplantar keratoderma

G. Barton, M. Akiyama, H. Shimizu, 2012, Nature Genetics.

Fibroblast-derived dermal matrix drives development of aggressive cutaneous squamous cell carcinoma in patients with recessive dystrophic epidermolysis bullosa.

J. McGrath, I. Leigh, F. Hogg, 2012, Cancer research.

The cytolinker plectin regulates nuclear mechanotransduction in keratinocytes

J. R. McMillan, J. McGrath, J. Connelly, 2015, Journal of Cell Science.

Genetic diseases of junctions.

J. McGrath, J. Lai-Cheong, K. Arita, 2007, The Journal of investigative dermatology.

Gene Therapy for Inherited Skin Disorders

J. McGrath, S. Lwin, 2017 .

Treatment of excessive granulation tissue with EMLA* cream and 95% silver‐nitrate pencils

J. McGrath, O. Schofield, 1990, Clinical and experimental dermatology.

BPAG1-e restricts keratinocyte migration through control of adhesion stability.

J. McGrath, M. Parsons, A. South, 2014, The Journal of investigative dermatology.

Efficacy of Human Placental‐Derived Stem Cells in Collagen VII Knockout (Recessive Dystrophic Epidermolysis Bullosa) Animal Model

J. McGrath, A. Christiano, M. Cairo, 2018, Stem cells translational medicine.

Arrest among psychotic inpatients: assessing the relationship to diagnosis, gender, number of admissions, and social class

C. Muntaner, J. McGrath, A. Pulver, 1998, Social Psychiatry and Psychiatric Epidemiology.

Biallelic Mutations in KDSR Disrupt Ceramide Synthesis and Result in a Spectrum of Keratinization Disorders Associated with Thrombocytopenia

D. Kelsell, M. Simpson, M. Akiyama, 2017, Journal of Investigative Dermatology.

Diseases of epidermal keratins and their linker proteins.

J. Uitto, J. McGrath, G. Richard, 2007, Experimental cell research.

Stage II follow-up on a linkage scan for bipolar disorder in the Ashkenazim provides suggestive evidence for chromosome 12p and the GRIN2B gene

J. McGrath, D. Avramopoulos, M. Fallin, 2007, Genetics in Medicine.

Sneddon syndrome associated with two novel ADA2 gene mutations.

J. McGrath, D. D'cruz, S. Sangle, 2020, Rheumatology.

Recurrent European missense mutation in the F12 gene in a British family with type III hereditary angioedema.

J. McGrath, N. Nagy, M. Greaves, 2009, Journal of dermatological science.

Familiality of novel factorial dimensions of schizophrenia.

J. McGrath, D. Avramopoulos, M. Fallin, 2009, Archives of general psychiatry.

Griscelli syndrome type 3 in Ethiopian sisters resulting from a homozygous missense mutation in MLPH

J. McGrath, A. Onoufriadis, Lu Liu, 2019, International journal of dermatology.

Genetic analysis in Egyptian patients with Chediak–Higashi syndrome reveals new LYST mutations

J. McGrath, A. Onoufriadis, N. Doghaim, 2019, Clinical and experimental dermatology.

Genetic analysis in three Egyptian patients with Griscelli syndrome Type 1 reveals new nonsense mutations in MYO5A

J. McGrath, A. Onoufriadis, T. Omar, 2020, Clinical and experimental dermatology.

Normal and abnormal mechanisms of gene splicing and relevance to inherited skin diseases.

J. McGrath, P. Rogan, V. Wessagowit, 2005, Journal of dermatological science.

Schöpf-Schulz-Passarge syndrome resulting from a homozygous nonsense mutation in WNT10A.

J. McGrath, T. Hashimoto, N. Nagy, 2010, Journal of dermatological science.

Impact of next generation sequencing on diagnostics in a genetic skin disease clinic

M. Simpson, M. Akiyama, J. McGrath, 2013, Experimental dermatology.

Clinical and molecular abnormalities in lipoid proteinosis.

J. McGrath, J. Naeyaert, T. Hamada, 2005, European journal of dermatology : EJD.

Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1).

M. Ramsay, T. Jenkins, J. McGrath, 2002, Human molecular genetics.

Detailed hair shaft analysis in a man with delayed‐onset Chediak‐Higashi syndrome

J. McGrath, R. Fleck, D. Fenton, 2020, The British journal of dermatology.

Treatment of Hereditary Epidermolysis Bullosa: Updates and Future Prospects

J. McGrath, Julia Yu‐Yun Lee, C. Hsu, 2014, American Journal of Clinical Dermatology.

Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene.

J. McGrath, C. Has, G. Zambruno, 2006, The Journal of investigative dermatology.

Ichthyosis Prematurity Syndrome: From Fetus to Adulthood.

J. R. McMillan, J. McGrath, J. Mellerio, 2016, JAMA dermatology.

Dyskeratosis congenita: new clinical and molecular insights into ribosome function

J. McGrath, 1999, The Lancet.

Dermatological manifestations of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis (POIKTMP): a case series of 28 patients

J. McGrath, D. Lipsker, S. Küry, 2019, The British journal of dermatology.

Under‐recognition of acral peeling skin syndrome: 59 new cases with 15 novel mutations

J. McGrath, C. Has, J. Mellerio, 2014, The British journal of dermatology.

Synergistic multiple early therapy (SMET) for inflammatory diseases with pathogenic autoinflammatory feedback circuits

J. McGrath, C. Tziotzios, F. Ferguson, 2021, The British journal of dermatology.

Ectodermal dysplasia-skin fragility syndrome resulting from a new atypical homozygous cryptic acceptor splice site mutation in PKP1.

M. Simpson, J. R. McMillan, J. McGrath, 2016, Journal of dermatological science.

Progressive osseous heteroplasia resulting from a new mutation in the GNAS1 gene

J. McGrath, T. Hamada, F. Child, 2004, Clinical and experimental dermatology.

Impairment in functional capacity as an endophenotype candidate in severe mental illness.

Philip D. Harvey, L. Siever, T. Patterson, 2012, Schizophrenia bulletin.

Novel indel mutation of STS underlies a new phenotype of self-healing recessive X-linked ichthyosis.

M. Simpson, M. Akiyama, J. McGrath, 2015, Journal of dermatological science.

Next-generation diagnostics for inherited skin disorders.

J. McGrath, John A McGrath, Joey E Lai-Cheong, 2011, The Journal of investigative dermatology.

Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability

J. McGrath, I. Leigh, R. Eady, 2003, Journal of Cell Science.

Ectodermal dysplasia showing clinical overlap between AEC, Rapp–Hodgkin and CHAND syndromes

J. McGrath, I. Chan, S. Öztürkcan, 2004, Clinical and experimental dermatology.

Heterozygous Mutation in the SAM Domain of p63 Underlies Rapp-Hodgkin Ectodermal Dysplasia

J. McGrath, P. Kantaputra, T. Hamada, 2003, Journal of dental research.

Serum levels of high mobility group box 1 correlate with disease severity in recessive dystrophic epidermolysis bullosa

J. McGrath, J. Mellerio, G. Petrof, 2013, Experimental dermatology.

Spatial activation of ezrin by epidermal growth factor receptor and focal adhesion kinase co-ordinates epithelial cell migration

J. McGrath, M. Parsons, Grace K. Chan, 2021, Open Biology.

Epithelial inflammation resulting from an inherited loss-of-function mutation in EGFR

M. Simpson, J. R. McMillan, M. Akiyama, 2014, The Journal of investigative dermatology.

Syndromic inherited poikiloderma due to a de novo mutation in FAM111B

M. Simpson, M. Akiyama, J. McGrath, 2017, The British journal of dermatology.

Montagna Symposium 2017-Precision Dermatology: Next Generation Prevention, Diagnosis, and Treatment.

J. Tolar, J. McGrath, A. Paller, 2018, The Journal of investigative dermatology.

Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.

M. Simpson, J. R. McMillan, J. McGrath, 2012, American journal of human genetics.

Mutations in PLOD3, encoding lysyl hydroxylase 3, cause a complex connective tissue disorder including recessive dystrophic epidermolysis bullosa-like blistering phenotype with abnormal anchoring fibrils and type VII collagen deficiency.

J. Uitto, J. McGrath, A. Kariminejad, 2019, Matrix biology : journal of the International Society for Matrix Biology.

Pseudoporphyria induced by ultraviolet radiation

J. McGrath, J. Mellerio, K. Semkova, 2019, The Australasian journal of dermatology.

The molecular basis of lipoid proteinosis: mutations in extracellular matrix protein 1

J. McGrath, Lu Liu, T. Hamada, 2007, Experimental dermatology.

Integrative mRNA profiling comparing cultured primary cells with clinical samples reveals PLK1 and C20orf20 as therapeutic targets in cutaneous squamous cell carcinoma

J. McGrath, C. Mein, J. Bourdon, 2011, Oncogene.

Dense SNP association study for bipolar I disorder on chromosome 18p11 suggests two loci with excess paternal transmission

J. McGrath, M. Fallin, A. Pulver, 2007, Molecular Psychiatry.

Caveolin-1 Controls Hyperresponsiveness to Mechanical Stimuli and Fibrogenesis-Associated RUNX2 Activation in Keloid Fibroblasts.

J. McGrath, M. Tang, Hsi-Hui Lin, 2018, The Journal of investigative dermatology.

Target proteins in inherited and acquired blistering skin disorders

J. McGrath, H. Fassihi, J. Mellerio, 2006, Clinical and experimental dermatology.

Recent Advances in the Molecular Pathology of Bullous Skin Disorders

J. McGrath, 2005 .

Chapter 26 – Molecular Basis of Skin Disease

J. McGrath, V. Wessagowit, 2009 .

Potential of Systemic Allogeneic Mesenchymal Stromal Cell Therapy for Children with Recessive Dystrophic Epidermolysis Bullosa.

J. Tolar, J. McGrath, P. Veys, 2015, The Journal of investigative dermatology.

Novel Mutation in a Child with Goltz Syndrome

S. Kapoor, J. McGrath, V. Ghosh, 2011, The Indian Journal of Pediatrics.

Pterygium and thinning of nails as an unusual manifestation in Clouston syndrome

J. McGrath, A. Onoufriadis, T. Sukakul, 2019, The Journal of dermatology.

Five latent factors underlying schizophrenia: analysis and relationship to illnesses in relatives.

J. McGrath, M. Fallin, G. Nestadt, 2004, Schizophrenia bulletin.

Mutations in KLHL24 Add to the Molecular Heterogeneity of Epidermolysis Bullosa Simplex.

J. McGrath, J. Mellerio, Lu Liu, 2017, The Journal of investigative dermatology.

Biallelic KRT5 mutations in epidermolysis bullosa simplex, including a complete human keratin 5 "knock-out".

J. Uitto, J. McGrath, A. Kariminejad, 2019, Matrix biology : journal of the International Society for Matrix Biology.

EB2017-Progress in Epidermolysis Bullosa Research toward Treatment and Cure.

J. Uitto, J. McGrath, L. Bruckner-Tuderman, 2018, The Journal of investigative dermatology.

Psychiatric morbidity in the relatives of patients with DSM-III schizophreniform disorder: comparisons with the relatives of schizophrenic and bipolar disorder patients.

J. McGrath, A. Pulver, P. Wolyniec, 1991, Journal of psychiatric research.

Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients

J. McGrath, Peng-Chieh Chen, M. Tang, 2022, Orphanet Journal of Rare Diseases.

Arrhythmogenic right ventricular cardiomyopathy in patients with biallelic JUP-associated skin fragility

J. Uitto, J. McGrath, Z. Sani, 2020, Scientific Reports.

Suppression of TGFβ and Angiogenesis by Type VII Collagen in Cutaneous SCC.

J. McGrath, V. Kähäri, D. Murrell, 2016, Journal of the National Cancer Institute.

Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome.

H. Feiler, E. Fuchs, A. Prescott, 2003, American journal of human genetics.

The Johns Hopkins University Collaborative Schizophrenia Study: an epidemiologic-genetic approach to test the heterogeneity hypothesis and identify schizophrenia susceptibility genes.

D. Housman, S. Antonarakis, M. Karayiorgou, 1996, Cold Spring Harbor symposia on quantitative biology.

Clinical and molecular characterization of lipoid proteinosis in Namaqualand, South Africa

M. Ramsay, T. Jenkins, J. McGrath, 2004, The British journal of dermatology.

Time Series Integrative Analysis of RNA Sequencing and MicroRNA Expression Data Reveals Key Biologic Wound Healing Pathways in Keloid-Prone Individuals.

J. McGrath, M. Tang, C. Ainali, 2018, Journal of Investigative Dermatology.

Wharton's jelly mesenchymal stromal/stem cells derived under chemically defined animal product-free low oxygen conditions are rich in MSCA-1(+) subpopulation.

Dheraj K Taheem, L. Poston, J. McGrath, 2014, Regenerative medicine.

A Th2 cytokine interleukin-31 signature in a case of sporadic lichen amyloidosis.

J. McGrath, A. Taïeb, M. Mossalayi, 2015, Acta dermato-venereologica.

Immune tolerance of allogeneic haematopoietic cell transplantation supports donor epidermal grafting of recessive dystrophic epidermolysis bullosa chronic wounds *

J. Tolar, J. McGrath, C. Ebens, 2020, The British journal of dermatology.

Prediction of real-world functional disability in chronic mental disorders: a comparison of schizophrenia and bipolar disorder.

Philip D. Harvey, C. Depp, B. Mausbach, 2010, The American journal of psychiatry.

Identification and Functional Studies of Regulatory Variants Responsible for the Association of NRG3 with a Delusion Phenotype in Schizophrenia

M. Taub, A. Sawa, J. McGrath, 2015, Molecular Neuropsychiatry.

Predominance of the recurrent mutation R635X in the LAMB3 gene in European patients with Herlitz junctional epidermolysis bullosa has implications for mutation detection strategy.

J. Uitto, J. McGrath, J. Ortonne, 1997, The Journal of investigative dermatology.

Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa.

J. Uitto, J. McGrath, L. Pulkkinen, 1997, American journal of human genetics.

KRT14 haploinsufficiency results in increased susceptibility of keratinocytes to TNF-alpha-induced apoptosis and causes Naegeli-Franceschetti-Jadassohn syndrome.

J. Lugassy, P. Itin, D. Bercovich, 2008, The Journal of investigative dermatology.

A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa

J. McGrath, R. Eady, J. Mellerio, 1999, Experimental dermatology.

Striate palmoplantar keratoderma resulting from desmoplakin haploinsufficiency.

J. McGrath, N. Whittock, R. Eady, 1999, The Journal of investigative dermatology.

Novel p.Ala675Thr missense mutation in TRPV3 in Olmsted syndrome

J. McGrath, J. Salas-Alanis, M. Amaya-guerra, 2020, Clinical and experimental dermatology.

Bullosis diabeticorum. A case report and literature review

J. McGrath, S. Munn, T. Basarab, 1995, Clinical and experimental dermatology.

Advances in understanding the genetic basis of inherited single gene skin barrier disorders: new clues to key genes that may be involved in the pathogenesis of atopic dermatitis

J. McGrath, J. Lai-Cheong, 2006 .

Tissue and Circulating MicroRNA Co-expression Analysis Shows Potential Involvement of miRNAs in the Pathobiology of Frontal Fibrosing Alopecia.

M. Simpson, J. McGrath, S. Holmes, 2017, The Journal of investigative dermatology.

New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter.

J. McGrath, J. Mellerio, Lu Liu, 2009, Acta dermato-venereologica.

Coagulation Factor XIII-A Subunit Missense Mutation in the Pathobiology of Autosomal Dominant Multiple Dermatofibromas.

O. Sarig, M. Simpson, J. McGrath, 2020, The Journal of investigative dermatology.

Phenotypic suppression of acral peeling skin syndrome in a patient with autosomal recessive congenital ichthyosis

O. Sarig, N. Shomron, J. McGrath, 2020, Experimental dermatology.

Acral Peeling Skin Syndrome Resulting from a Homozygous Nonsense Mutation in the CSTA Gene Encoding Cystatin A

M. Simpson, J. McGrath, A. Krunic, 2013, Pediatric dermatology.

Comorbidities of Keloid and Hypertrophic Scars Among Participants in UK Biobank.

J. McGrath, T. Shaw, N. Dand, 2023, JAMA dermatology.

Split skin grafting and bullous pemphigoid

J. McGrath, M. Black, 1991, Clinical and experimental dermatology.

Mutations in AEC syndrome skin reveal a role for p63 in basement membrane adhesion, skin barrier integrity and hair follicle biology

J. McGrath, J. Mellerio, C. Pourreyron, 2012, The British journal of dermatology.

Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia.

J. McGrath, R. Eady, J. Mellerio, 2001, The British journal of dermatology.

Acral Peeling Skin Syndrome: A Clinically and Genetically Heterogeneous Disorder

J. McGrath, M. Medenica, K. Arita, 2012, Pediatric dermatology.

Novel TGM5 mutations in acral peeling skin syndrome

J. McGrath, E. Sprecher, M. Geel, 2015, Experimental dermatology.

Augmentation of cutaneous wound healing by pharmacologic mobilization of endogenous bone marrow stem cells.

J. Tolar, J. McGrath, 2014, The Journal of investigative dermatology.

The course of pregnancy and childbirth in three mothers with recessive dystrophic epidermolysis bullosa

J. McGrath, R. Okuyama, I. Katayama, 2012, Clinical and experimental dermatology.

Pregnancy in epidermolysis bullosa

S. Bewley, J. McGrath, R. Eady, 2003 .

Schopf‐Schulz‐Passarge syndrome: a rare ectodermal dysplasia with a delayed diagnosis

J. McGrath, R. Sinclair, F. Ismail, 2020, International Journal of Dermatology.

Late diagnosis of ectodermal dysplasia syndrome

J. McGrath, Lu Liu, G. Marshman, 2013, The Australasian journal of dermatology.

Kindlin-1 Regulates Keratinocyte Electrotaxis

J. McGrath, M. Parsons, Hongduo Chen, 2016, The Journal of investigative dermatology.

Kindlin-1 Regulates Keratinocyte Electrotaxis

J. McGrath, M. Parsons, Hongduo Chen, 2016, The Journal of investigative dermatology.

Transcriptomic response of peripheral blood mononuclear cells to secukinumab in an 8‐year‐old boy with juvenile generalized pustular psoriasis

J. McGrath, Peng-Chieh Chen, B. Guevara, 2022, Journal of the European Academy of Dermatology and Venereology.

SERPINA1, generalized pustular psoriasis, and adult‐onset immunodeficiency

J. McGrath, S. Tongsima, N. Quarto, 2021, The Journal of dermatology.

The p.Glu477Lys Mutation in Keratin 5 Is Strongly Associated with Mortality in Generalized Severe Epidermolysis Bullosa Simplex.

J. McGrath, J. Mellerio, S. Hoey, 2016, The Journal of investigative dermatology.

Neonatal diagnosis of Kindler syndrome.

J. McGrath, H. Fassihi, J. Mellerio, 2005, Journal of dermatological science (Amsterdam).

Kindlin-1 controls Wnt and TGF-β availability to regulate cutaneous epithelial stem cell proliferation

J. McGrath, D. Rifkin, Raphael Ruppert, 2014, Nature Medicine.

Kindler syndrome: a new mutation and new diagnostic possibilities.

J. McGrath, H. Fassihi, J. Fitzpatrick, 2006, Archives of dermatology.

Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa.

J. McGrath, S. González, P. Conget, 2012, Journal of dermatological science.

The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations

Morris A Swertz, Cristina Has, Trebor Rengaw, 2011, Human mutation.

Case of Kindler syndrome resulting from mutation in the FERMT1 gene

J. McGrath, N. Katoh, K. Tamai, 2012, The Journal of dermatology.

A New Mutation and New Diagnostic Possibilities

J. McGrath, H. Fassihi, J. Fitzpatrick, 2017 .

The role of kindlins in cell biology and relevance to human disease.

J. McGrath, J. Lai-Cheong, M. Parsons, 2010, The international journal of biochemistry & cell biology.

An Indian child with Kindler syndrome resulting from a new homozygous nonsense mutation (C468X) in the KIND1 gene

J. McGrath, M. Kabra, H. Fassihi, 2005, Clinical and experimental dermatology.

Restoration of open reading frame resulting from skipping of an exon with an internal deletion in the COL7A1 gene.

H. Dietz, J. McGrath, A. Christiano, 1998, Laboratory investigation; a journal of technical methods and pathology.

Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa.

J. Uitto, J. McGrath, A. Christiano, 1997, The Journal of investigative dermatology.

Immunogold electron microscopy using skin in Michel's medium intended for immunofluorescence analysis.

J. McGrath, B. Bhogal, M. Gratian, 2001, Clinics in dermatology.

Kindler syndrome.

J. McGrath, J. Lai-Cheong, 2011, Dermatologic clinics.

Treatment of multifactorial anaemia in adults with severe epidermolysis bullosa using intravenous ferric carboxymaltose: a single institution, observational, retrospective study.

J. McGrath, J. Mellerio, D. Greenblatt, 2022, The British journal of dermatology.

Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.

J. McGrath, N. Zoppi, M. Colombi, 2002, The Journal of investigative dermatology.

Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: positional effects of premature termination codon mutations on clinical severity. Japanese Collaborative Study Group on Epidermolysis Bullosa.

H. Shimizu, T. Nishikawa, J. Uitto, 1999, The Journal of investigative dermatology.

Safety and early efficacy outcomes for lentiviral fibroblast gene therapy in recessive dystrophic epidermolysis bullosa.

F. Reid, J. Tolar, M. del Río, 2019, JCI insight.

Lentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB

J. R. McMillan, J. McGrath, F. Farzaneh, 2016, The Journal of investigative dermatology.

Lentiviral Engineered Fibroblasts Expressing Codon Optimized COL7A1 Restore Anchoring Fibrils in RDEB.

J. R. McMillan, J. McGrath, F. Farzaneh, 2015, The Journal of investigative dermatology.

Inherited blistering skin diseases: underlying molecular mechanisms and emerging therapies

J. McGrath, L. Proudfoot, A. Salam, 2014, Annals of medicine.

Relationship of the Brief UCSD Performance-based Skills Assessment (UPSA-B) to multiple indicators of functioning in people with schizophrenia and bipolar disorder.

Philip D. Harvey, C. Depp, B. Mausbach, 2010, Bipolar disorders.

A comparison of different lysis buffers to assess allele dropout from single cells for preimplantation genetic diagnosis

J. McGrath, A. Thornhill, A. Handyside, 2001, Prenatal diagnosis.

Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex

J. McGrath, Peng-Chieh Chen, K. Natsuga, 2020, Acta dermato-venereologica.

Common IL-31 gene haplotype associated with non-atopic eczema is not implicated in epidermolysis bullosa pruriginosa.

J. McGrath, N. Nagy, A. Tanaka, 2010, Acta dermato-venereologica.

Promising effect of intravenous immunoglobulin therapy for epidermolysis bullosa pruriginosa

J. McGrath, C. Durmaz, A. Heper, 2020, International journal of dermatology.

The epidemiology of epidermolysis bullosa in England and Wales: data from the national epidermolysis bullosa database *

J. McGrath, J. Mellerio, G. Petrof, 2021, The British journal of dermatology.

Epidermolysis bullosa.

J. McGrath, J. Mellerio, 2006, British journal of hospital medicine.

Identification of a homozygous deletion mutation in C16orf57 in a family with Clericuzio‐type poikiloderma with neutropenia

J. McGrath, D. Lacombe, A. Taïeb, 2010, American journal of medical genetics. Part A.

Cardiomyopathy diagnosed in the eldest child harbouring p.S24X mutation in JUP

D. Kelsell, J. McGrath, A. South, 2016, The British journal of dermatology.

The missense mutation p.R1303Q in type XVII collagen underlies junctional epidermolysis bullosa resembling Kindler syndrome.

M. Simpson, P. Itin, J. McGrath, 2014, The Journal of investigative dermatology.

The Geospatial Distribution of Myositis and Its Phenotypes in the United States and Associations With Roadways: Findings From a National Myositis Patient Registry

J. McGrath, F. Miller, L. Rider, 2022, Frontiers in Medicine.

Generalized dystonia and striatal calcifications with lipoid proteinosis

J. McGrath, J. Zavala, S. Raskin, 2004, Neurology.

ATR gene mutations in HPV negative oropharyngeal cancer.

J. McGrath, M. Tavassoli, T. Guerrero-urbano, 2017, Oral oncology.

Transplanted Bone Marrow–Derived Circulating PDGFRα+ Cells Restore Type VII Collagen in Recessive Dystrophic Epidermolysis Bullosa Mouse Skin Graft

Y. Kaneda, M. Ishii, J. Uitto, 2015, The Journal of Immunology.

The structure and function of skin

J. McGrath, 2012 .

Germline mutation in PDGFRB may be implicated in hereditary progressive mucinous histiocytosis.

M. Simpson, J. McGrath, J. Demoulin, 2020, The British journal of dermatology.

A germline mutation in the platelet‐derived growth factor receptor beta gene may be implicated in hereditary progressive mucinous histiocytosis

M. Simpson, J. McGrath, J. Demoulin, 2021 .

P63 mutations in the EEC, Hay-Wells, ADULT syndromes and in split hand/foot malformation reveals a genotype-phenotype correlation.

M. Bamshad, H. Brunner, F. McKeon, 2000 .

WNT10A variant and severe scoliosis?

J. McGrath, P. Kantaputra, B. Olsen, 2022, The Journal of dermatology.

A novel mutation in the EDA gene in a Filipino family with X-linked hypohidrotic ectodermal dysplasia

J. McGrath, Lu Liu, B. Guevara, 2018 .

A recurrent mutation in the loricrin gene underlies the ichthyotic variant of Vohwinkel syndrome

J. McGrath, H. Lam, A. Christiano, 2002, Clinical and experimental dermatology.

Scanning electron microscopy and x-ray microanalysis of the human pineal body with emphasis on calcareous concretions.

J. McGrath, D. J. Allen, L. Didio, 1981, Journal of submicroscopic cytology.

Schizophrenia: age at onset, gender and familial risk

J. McGrath, W. Carpenter, A. Pulver, 1990, Acta psychiatrica Scandinavica.

Association of obesity and treated hypertension and diabetes with cognitive ability in bipolar disorder and schizophrenia

Philip D. Harvey, C. Depp, B. Mausbach, 2014, Bipolar disorders.

Genomic localization, organization and amplification of the human zinc transporter protein gene, ZNT4, and exclusion as a candidate gene in different clinical variants of acrodermatitis enteropathica

J. McGrath, N. Whittock, R. Mallipeddi, 2001, Archives of Dermatological Research.

The South African "bathing suit ichthyosis" is a form of lamellar ichthyosis caused by a homozygous missense mutation, p.R315L, in transglutaminase 1.

M. Akiyama, H. Shimizu, J. McGrath, 2007, Journal of Investigative Dermatology.

EBGene trial: patient preselection outcomes for the European GENEGRAFT ex vivo phase I/II gene therapy trial for recessive dystrophic epidermolysis bullosa

J. McGrath, S. Duchatelet, A. Hovnanian, 2019, The British journal of dermatology.

Transcriptomic profiling of recessive dystrophic epidermolysis bullosa wounded skin highlights drug repurposing opportunities to improve wound healing

Avi Ma’ayan, J. McGrath, C. Ainali, 2021, Experimental dermatology.

PADI3, hair disorders and genomic investigation

M. Simpson, J. McGrath, M. Ohyama, 2019, The British journal of dermatology.

Autosomal dominant epidermolysis bullosa simplex exacerbated by hyperkeratotic scabies

J. McGrath, Peng-Chieh Chen, Julia Yu‐Yun Lee, 2022, The Journal of dermatology.

Metastatic squamous cell carcinoma resembling angiosarcoma complicating dystrophic epidermolysis bullosa.

J. McGrath, O. Schofield, B. Mayou, 1991, Dermatologica.

Compound heterozygosity for a nonsense mutation and a splice site mutation in the type VII collagen gene (COL7A1) in recessive dystrophic epidermolysis bullosa.

J. Uitto, J. McGrath, A. Christiano, 1997, Laboratory investigation; a journal of technical methods and pathology.

Single nucleotide polymorphism in a commonly utilized LAMB3 primer sequence: implications for mutation detection and haplotype analysis in junctional epidermolysis bullosa.

J. McGrath, H. Fassihi, V. Wessagowit, 2006, Journal of dermatological science.

Extracellular matrix protein 1 gene (ECM1) mutations in lipoid proteinosis and genotype-phenotype correlation.

Hiroshi Shimizu, Takahiro Hamada, Takashi Hashimoto, 2003, The Journal of investigative dermatology.

Plasma metabolomic and lipidomic profiling highlights metabolic changes in keloid‐prone individuals

J. McGrath, A. Onoufriadis, Yu-Chen Lin, 2021, Experimental dermatology.

A disease-associated glycine substitution in BP180 (type XVII collagen) leads to a local destabilization of the major collagen triple helix.

J. McGrath, S. Twining, L. Diaz, 2000, Matrix biology : journal of the International Society for Matrix Biology.

The three-body problem of therapy with induced pluripotent stem cells

J. Tolar, J. McGrath, 2015, Genome Medicine.

Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa

J. McGrath, H. Fassihi, P. Braude, 2010, The British journal of dermatology.

Improved molecular diagnosis of the common recurrent intragenic deletion mutation in IKBKG in a Filipino family with incontinentia pigmenti

J. McGrath, Lu Liu, B. Guevara, 2016, The Australasian journal of dermatology.

Dominant dystrophic epidermolysis bullosa presenting as familial nail dystrophy

J. McGrath, J. Mellerio, A. Ilchyshyn, 2001 .

Molecular genetics as a diagnostic and prognostic aid in the assessment of neonates with red, scaly genodermatoses: work still in progress.

J. McGrath, S. Clements, 2008, Archives of dermatology.

Refined mapping of Naegeli-Franceschetti- Jadassohn syndrome to a 6 cM interval on chromosome 17q11.2-q21 and investigation of candidate genes.

S. Bale, P. Itin, J. Uitto, 2002, The Journal of investigative dermatology.

An essential role for the Zn2+ transporter ZIP7 in B cell development

J. Casanova, G. Rutter, M. van der Burg, 2019, Nature Immunology.

Human hair abnormalities resulting from inherited desmosome gene mutations.

J. McGrath, V. Wessagowit, John A McGrath, 2005, The Keio journal of medicine.

Determinants of occupational and residential functioning in bipolar disorder.

Philip D. Harvey, C. Depp, B. Mausbach, 2012, Journal of affective disorders.

Social competence and observer-rated social functioning in bipolar disorder.

Philip D. Harvey, C. Depp, B. Mausbach, 2010, Bipolar disorders.

Next-generation diagnostics for genodermatoses.

M. Simpson, R. Cho, J. McGrath, 2012, The Journal of investigative dermatology.

New Homozygous Missense MSMO1 Mutation in Two Siblings with SC4MOL Deficiency Presenting with Psoriasiform Dermatitis

M. Simpson, J. McGrath, A. Onoufriadis, 2020, Cytogenetic and Genome Research.

Dysgerminoma: a Complete Report on a Case of Bilateral Dysgerminomata complicating Pregnancy with Malignant Secondary Deposits and Fatal Termination *

J. McGrath, J. Cunningham, 1942 .

Genome-wide meta-analysis implicates mediators of hair follicle development and morphogenesis in risk for severe acne

T. Spector, Sue Hood, C. Curtis, 2018, Nature Communications.

LAMB3 mutations in generalized atrophic benign epidermolysis bullosa: consequences at the mRNA and protein levels.

J. Uitto, J. McGrath, A. Paller, 1998, Laboratory investigation; a journal of technical methods and pathology.

EMSY expression affects multiple components of the skin barrier with relevance to atopic dermatitis

J. Reményi, A. Lamond, A. Prescott, 2019, The Journal of allergy and clinical immunology.

Two phase III trials of baricitinib for alopecia areata: a critically appraised research paper.

J. McGrath, C. Tziotzios, T. Rayinda, 2022, The British journal of dermatology.

Next generation diagnostics of heritable connective tissue disorders.

M. Simpson, M. Akiyama, J. McGrath, 2014, Matrix biology : journal of the International Society for Matrix Biology.

The gene for Naegeli-Franceschetti-Jadassohn syndrome maps to 17q21.

J. McGrath, N. Whittock, R. Eady, 2000, The Journal of investigative dermatology.

Mutations in the ribosome biogenesis factor gene LTV1 are linked to LIPHAK syndrome, a novel poikiloderma-like disorder

C. Rivolta, J. McGrath, M. Folcher, 2022, Human Molecular Genetics.

Slac2-b co-ordinates extracellular vesicle secretion to regulate keratinocyte adhesion and migration.

J. McGrath, M. Parsons, T. Hayday, 2020, The Journal of investigative dermatology.

Slac2-b Coordinates Extracellular Vesicle Secretion to Regulate Keratinocyte Adhesion and Migration

J. McGrath, M. Parsons, T. Hayday, 2021 .

The power of analysis: Statistical perspectives. Part 1

J. Bartko, J. McGrath, A. Pulver, 1988, Psychiatry Research.

Genetics and the Skin

J. McGrath, 2016 .

Novel missense mutation in a patient with recessive pretibial epidermolysis bullosa and a mild phenotype

J. McGrath, L. Cunningham, A. Lally, 2015, Journal of the European Academy of Dermatology and Venereology : JEADV.

Coinheritance of 2 New Potentially Damaging Heterozygous COL7A1 Variants in a Family With Autosomal Dominant Epidermolysis Bullosa Pruriginosa

J. McGrath, A. Messenger, O. Quarrell, 2018, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Diagnosis by numbers: defining skin disease pathogenesis through collated gene signatures.

Amr Salam, J. McGrath, John A McGrath, 2015, The Journal of investigative dermatology.

Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa.

J. McGrath, E. Rashidghamat, 2017, Intractable & rare diseases research.

Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility.

M. Simpson, J. McGrath, J. Mellerio, 2012, American journal of human genetics.

Fine mapping on chromosome 10q22-q23 implicates Neuregulin 3 in schizophrenia.

J. McGrath, D. Avramopoulos, M. Fallin, 2009, American journal of human genetics.

Strategies to identify disease genes.

J. McGrath, A. South, G. Ashton, 2002, Drugs of today.

Autosomal recessive hypotrichosis with loose anagen hairs associated with TKFC mutations *

M. Simpson, F. Fraternali, J. McGrath, 2020, The British journal of dermatology.

Heparan sulphate proteoglycan and wound healing in skin

J. McGrath, R. Eady, 1997, The Journal of pathology.

Finasteride is of uncertain utility in treating frontal fibrosing alopecia.

J. McGrath, D. Fenton, C. Tziotzios, 2016, Journal of the American Academy of Dermatology.

Filaggrin and the great epidermal barrier grief

J. McGrath, 2008, Australasian Journal of Dermatology.

Skin type VII collagen acts as a tumor suppressor by regulating TGF and angiogenesis

J. McGrath, V. Kähäri, D. Murrell, 2017 .

Oncostatin M receptor-beta mutations underlie familial primary localized cutaneous amyloidosis.

M. Akiyama, H. Shimizu, J. McGrath, 2008, American journal of human genetics.

Intra-familial variability of ectodermal defects associated with WNT10A mutations.

J. McGrath, N. Nagy, E. Wedgeworth, 2011, Acta dermato-venereologica.

Epidermolysis bullosa acquisita—a case with upper airways obstruction requiring tracheostomy and responding to cyclosporin

J. McGrath, M. Black, T. Thirumoorthy, 1993, Clinical and experimental dermatology.