Lu Liu

发表

Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa.

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

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.

Molecular and neurological characterizations of three Saudi families with lipoid proteinosis

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

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.

Revertant mosaicism in recessive dystrophic epidermolysis bullosa.

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

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

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

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.

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.

Clinical subtypes and molecular basis of epidermolysis bullosa in Kuwait

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

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.

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

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

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

J. McGrath, M. Parsons, J. Mellerio, 2012, 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.

Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis.

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

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.

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.

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

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

Semi-dominant GPNMB mutations in amyloidosis cutis dyschromica.

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

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.

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.

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.

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.

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 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.

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.

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.

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.

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.

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.

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

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

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.

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.

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.

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

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

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.

Late diagnosis of ectodermal dysplasia syndrome

J. McGrath, Lu Liu, G. Marshman, 2013, The Australasian 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.

Novel and recurrent COL7A1 mutations in Chilean patients with dystrophic epidermolysis bullosa.

J. McGrath, S. González, P. Conget, 2012, Journal of dermatological science.

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.

A novel mutation in the EDA gene in a Filipino family with X-linked hypohidrotic ectodermal dysplasia

J. McGrath, Lu Liu, B. Guevara, 2018 .

Biallelic TUFT1 variants cause woolly hair, superficial skin fragility and desmosomal defects.

S. Banka, J. Mellerio, K. Chandler, 2022, The British journal of dermatology.

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.

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.

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.

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, The Journal of investigative dermatology.

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.