M. Simpson

发表

A genome-wide association study for extremely high intelligence

G. Breen, S. Newhouse, D. Lubinski, 2017, Molecular Psychiatry.

A Three-Stage Genome-Wide Association Study of General Cognitive Ability: Hunting the Small Effects

R. Plomin, L. Schalkwyk, C. Curtis, 2010, Behavior genetics.

Sequencing of human genomes with nanopore technology

Smita Y. Patel, P. Donnelly, C. Freeman, 2019, Nature Communications.

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

S. Robertson, M. Simpson, R. Trembath, 2011, Nature Genetics.

Text‐mined phenotype annotation and vector‐based similarity to improve identification of similar phenotypes and causative genes in monogenic disease patients

Nick Dand, M. Simpson, J. Saklatvala, 2018, Human mutation.

Mutations in the vesicular trafficking protein annexin A11 are associated with amyotrophic lateral sclerosis

Robert H. Brown, M. Weale, F. Baas, 2017, Science Translational Medicine.

Phenome-wide association study using research participants’ self-reported data provides insight into the Th17 and IL-17 pathway

Li Li, Deepak K Rajpal, M. Nelson, 2017, PloS one.

Genome-wide association study identiﬁes three novel susceptibility loci for severe Acne vulgaris

T. Spector, M. Weale, Sue Hood, 2022 .

Novel Mutation in Desmoplakin Causes Arrhythmogenic Left Ventricular Cardiomyopathy

M. Simpson, J. Mogensen, P. Syrris, 2005, Circulation.

Mutations in FAM20C are associated with lethal osteosclerotic bone dysplasia (Raine syndrome), highlighting a crucial molecule in bone development.

E. Zackai, M. Simpson, M. Patton, 2007, American journal of human genetics.

Mutations in the γ-secretase genes NCSTN, PSENEN, and PSEN1 underlie rare forms of hidradenitis suppurativa (acne inversa).

M. Simpson, R. Trembath, D. Dafou, 2012, The Journal of investigative dermatology.

Germline FH mutations presenting with pheochromocytoma.

M. Simpson, R. Trembath, E. Gaude, 2014, The Journal of clinical endocrinology and metabolism.

Germline Mutations in the CDKN2B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma.

Douglas E. V. Pires, Richard C Trembath, Alan Donaldson, 2015, Cancer discovery.

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

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

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

Sahar Mansour, Tim Morgan, Magdalena Götz, 2013, Nature Genetics.

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study

D. Kullmann, E. Behr, S. Sisodiya, 2018, The Lancet.

Diversity and Impact of Rare Variants in Genes Encoding the Platelet G Protein-Coupled Receptors

S. Mundell, M. Simpson, S. Watson, 2015, Thrombosis and Haemostasis.

Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling

James T. Elder, A. Peters, G. Abecasis, 2017, Human molecular genetics.

Psoriasis and Genetics

M. Simpson, N. Dand, F. Capon, 2020, Acta dermato-venereologica.

Erratum: A genome-wide analysis of putative functional and exonic variation associated with extremely high intelligence

D. Lubinski, W. Iacono, R. Plomin, 2015, Molecular psychiatry.

Genetic architecture of acne vulgaris

M. Simpson, A. Navarini, C. Smith, 2017, Journal of the European Academy of Dermatology and Venereology : JEADV.

Homozygous Mutation of Desmocollin-2 in Arrhythmogenic Right Ventricular Cardiomyopathy with Mild Palmoplantar Keratoderma and Woolly Hair

E. Behr, M. Simpson, M. Patton, 2008, Cardiology.

Defects of CRB2 cause steroid-resistant nephrotic syndrome.

S. Levy, M. Simpson, F. Hildebrandt, 2015, American journal of human genetics.

MAGI2 Mutations Cause Congenital Nephrotic Syndrome.

Maggie Williams, Agnieszka Bierzynska, Elizabeth Colby, 2017, Journal of the American Society of Nephrology : JASN.

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.

A Novel ABCA12 Mutation in Two Families with Congenital Ichthyosis

M. Simpson, S. Khaliq, E. Maher, 2012, Scientifica.

Frequency of Pathogenic Germline Variants in CDH1, BRCA2, CHEK2, PALB2, BRCA1, and TP53 in Sporadic Lobular Breast Cancer

S. Pinder, M. Simpson, E. Sawyer, 2019, Cancer Epidemiology, Biomarkers & Prevention.

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

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

The SMAD-binding domain of SKI: a hotspot for de novo mutations causing Shprintzen–Goldberg syndrome

Michelle S. Miller, G. Mortier, M. Simpson, 2014, European Journal of Human Genetics.

Network‐Informed Gene Ranking Tackles Genetic Heterogeneity in Exome‐Sequencing Studies of Monogenic Disease

M. Weale, M. Simpson, N. Dand, 2015, Human mutation.

Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures

S. Topp, M. Simpson, P. Fallon, 2020, Epilepsia.

Acrocallosal syndrome: identification of a novel KIF7 mutation and evidence for oligogenic inheritance.

M. Simpson, R. Trembath, E. Maher, 2013, European journal of medical genetics.

Whole exome sequencing identifies genetic variants in inherited thrombocytopenia with secondary qualitative function defects

S. Mundell, M. Simpson, S. Watson, 2016, Haematologica.

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

G. Carvill, I. Scheffer, H. Mefford, 2019, American journal of human genetics.

Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.

Graham M Lord, M. Simpson, M. Ognjanović, 2017, Kidney international.

Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults

Robert W. Taylor, T. Strom, H. Prokisch, 2018, JAMA neurology.

The ErbB4 CYT2 variant protects EGFR from ligand-induced degradation to enhance cancer cell motility

B. Kholodenko, A. Tutt, S. Pinder, 2014, Science Signaling.

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

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

LYMPHOID NEOPLASIA Candidate driver genes involved in genome maintenance and DNA repair in S´ezary syndrome

M. Simpson, S. Whittaker, Charlotte E. Flanagan, 2016 .

Mutations in ANXA11 cause familial and sporadic amyotrophic lateral sclerosis

F. Baas, J. Belleroche, A. Al-Chalabi, 2017 .

Title: Mutations in ANXA11 cause familial and sporadic amyotrophic lateral sclerosis

Robert H. Brown, M. Weale, F. Baas, 2016 .

Defective mitochondrial mRNA maturation is associated with spastic ataxia.

H. Cross, M. Simpson, M. Patton, 2010, American journal of human genetics.

A novel locus for an autosomal recessive hereditary spastic paraplegia (SPG35) maps to 16q21-q23

M. Simpson, M. Patton, A. Crosby, 2008, Neurology.

A new locus for autosomal recessive complicated hereditary spastic paraplegia (SPG26) maps to chromosome 12p11.1–12q14

M. Simpson, A. Crosby, T. Warner, 2005, Journal of Medical Genetics.

Rapid identification of mutations in GJC2 in four limb primary lymphoedema using whole exome sequencing combined with linkage analysis

Alexandros, M. Simpson, R. Trembath, 2020 .

Cross-phenotype association mapping of the MHC identifies genetic variants that differentiate psoriatic arthritis from psoriasis

A. Barton, M. Brown, M. Simpson, 2017, Annals of the rheumatic diseases.

γ-Secretase mutations in hidradenitis suppurativa: new insights into disease pathogenesis.

M. Simpson, R. Trembath, A. Pink, 2013, The Journal of investigative dermatology.

MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia

D. Grozeva, Hiromi Hirata, R. Guerreiro, 2022, Movement disorders : official journal of the Movement Disorder Society.

Mutations in SPATA13/ASEF2 cause primary angle closure glaucoma

Amna Z. Shah, H. Cordell, M. Simpson, 2020, PLoS genetics.

Pathogenic variants in HTRA2 cause an early-onset mitochondrial syndrome associated with 3-methylglutaconic aciduria

Robert W. Taylor, M. Simpson, P. Bonnen, 2016, Journal of Inherited Metabolic Disease.

Title: Mutations in ANXA11 cause familial and sporadic amyotrophic lateral sclerosis

Robert H. Brown, M. Weale, F. Baas, 2016 .

Comparative Genetic Analysis of Psoriatic Arthritis and Psoriasis for the Discovery of Genetic Risk Factors and Risk Prediction Modeling

A. Barton, M. Brown, M. Simpson, 2022, Arthritis & rheumatology.

Enrichment of FLI1 and RUNX1 mutations in families with excessive bleeding and platelet dense granule secretion defects.

M. Simpson, S. Watson, M. Lordkipanidzé, 2013, Blood.

New SMARCA2 mutation in a patient with Nicolaides–Baraitser syndrome and myoclonic astatic epilepsy

M. Simpson, E. Hughes, Sha Tang, 2016, American journal of medical genetics. Part A.

A mutation in NFkappaB interacting protein 1 causes cardiomyopathy and woolly haircoat syndrome of Poll Hereford cattle.

M. Simpson, M. Patton, A. Crosby, 2009, Animal genetics.

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

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

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.

H. Cross, M. Simpson, M. Patton, 2003, American journal of human genetics.

Cardiomyopathy Novel Mutation in Desmoplakin Causes Arrhythmogenic Left Ventricular

M. Simpson, J. Mogensen, P. Syrris, 2010 .

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Martin A. M. Reijns, J. Al-Aama, P. Tomançak, 2017, Nature Genetics.

Characterization of the clinical and immunological phenotype and management of 157 individuals with 56 distinct heterozygous NFKB1 mutations.

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, The Journal of allergy and clinical immunology.

DIFFERENCES IN CLINICAL FEATURES AND COMORBID BURDEN BETWEEN HLA-C*06:02 CARRIER GROUPS IN MORE THAN 9,000 PEOPLE WITH PSORIASIS.

C. Curtis, M. Simpson, P. Di Meglio, 2021, The Journal of investigative 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.

Raine syndrome: a clinical, radiographic and genetic investigation of a case from the Indian subcontinent

M. Simpson, M. Kabra, A. Crosby, 2010, Clinical dysmorphology.

Novel ADA2 mutation presenting with neutropenia, lymphopenia and bone marrow failure in patients with deficiency in adenosine deaminase 2 (DADA2)

M. Simpson, G. Mufti, F. Smith, 2019, British journal of haematology.

Edinburgh Research Explorer Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50years

S. Pinder, M. Simpson, E. Sawyer, 2019 .

Large Intragenic KRT1 Deletion Underlying Atypical Autosomal Dominant Keratinopathic Ichthyosis.

M. Simpson, J. R. McMillan, M. Akiyama, 2016, Journal of Investigative Dermatology.

PSENEN and NCSTN mutations in familial hidradenitis suppurativa (Acne Inversa).

M. Simpson, R. Trembath, A. Pink, 2011, The Journal of investigative dermatology.

Molecular Detection of Minimal Residual Disease Provides the Most Powerful Independent Prognostic Factor Irrespective of Clonal Architecture in Nucleophosmin (NPM1) Mutant Acute Myeloid Leukemia

P. Vyas, M. Simpson, R. Hills, 2014 .

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

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

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.

Mutations in DONSON disrupt replication fork stability and cause microcephalic 1 dwarfism . 2 3

Martin A. M. Reijns, Saleem, Abdulrahman, 2017 .

The role of SLC2A1 mutations in myoclonic astatic epilepsy and absence epilepsy, and the estimated frequency of GLUT1 deficiency syndrome

P. Striano, U. Stephani, M. Simpson, 2015, Epilepsia.

Pathogenic variants in SLF2 and SMC5 cause segmented chromosomes and mosaic variegated hyperploidy

C. Mathew, M. Simpson, N. Mailand, 2022, Nature Communications.

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.

Negligible impact of rare autoimmune-locus coding-region variants on missing heritability

D. MacArthur, J. Todd, J. Barrett, 2013, Nature.

Mutations in FAM20C also identified in non‐lethal osteosclerotic bone dysplasia

M. Simpson, M. Patton, H. Stewart, 2009, Clinical genetics.

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype–phenotype study

J. Schuurs-Hoeijmakers, A. Hoischen, A. Reymond, 2013, Clinical genetics.

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.

WNT10A mutation results in severe tooth agenesis in a family of three sisters.

M. Simpson, M. Irving, P. Sharpe, 2018, Orthodontics & craniofacial research.

Assessment of Minimal Residual Disease in Standard-Risk AML.

Yashma Patel, Robert K Hills, Hassan Farah, 2016, The New England journal of medicine.

Molecular basis and inheritance patterns of amyloidosis cutis dyschromica

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

Semi-dominant GPNMB mutations in amyloidosis cutis dyschromica.

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

Frontal fibrosing alopecia: reflections and hypotheses on etiology and pathogenesis

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

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.

Hidradenitis suppurativa: haploinsufficiency of gamma‐secretase components does not affect gamma‐secretase enzyme activity in vitro

M. Simpson, R. Trembath, D. Dafou, 2016, The British journal of dermatology.

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.

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

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

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.

Richard D Emes, S. Antonarakis, G. Pals, 2013, American journal of human genetics.

Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.

Richard D Emes, S. Antonarakis, G. Pals, 2013, American journal of human genetics.

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.

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

J. Lupski, M. Simpson, M. Patton, 2017, Brain : a journal of neurology.

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

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

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.

Whole‐exome sequencing diagnosis of two autosomal recessive disorders in one family

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

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

Shin Lin, M. Snyder, M. Simpson, 2015, Nature Communications.

Germline CDH1 mutations in bilateral lobular carcinoma in situ

M. Simpson, S. Pinder, E. Sawyer, 2013, British Journal of Cancer.

Exome Sequencing of 75 Individuals from Multiply Affected Coeliac Families and Large Scale Resequencing Follow Up

M. Simpson, S. Neuhausen, V. Plagnol, 2015, PloS one.

LRPPRC mutations cause early-onset multisystem mitochondrial disease outside of the French-Canadian population

Robert W. Taylor, H. Prokisch, M. Simpson, 2015, Brain : a journal of neurology.

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

Robert W. Taylor, M. Simpson, R. Rodenburg, 2016, American journal of human genetics.

Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number

Robert W. Taylor, M. Simpson, R. Rodenburg, 2016, American journal of human genetics.

Kunji ERS, Taylor RW. Recurrent De Novo Dominant Mutations in SLC2SA4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA

Robert W. Taylor, M. Simpson, R. Rodenburg, 2016 .

Recurrent De Novo Dominant Mutations in SLC 2 SA 4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy

Robert W. Taylor, M. Simpson, R. Rodenburg, 2022 .

A genome-wide analysis of putative functional and exonic variation associated with extremely high intelligence

D. Lubinski, W. Iacono, R. Plomin, 2015, Molecular Psychiatry.

Exome Sequencing and Genotyping Identify a Rare Variant in NLRP7 Gene Associated With Ulcerative Colitis

J. Barrett, N. Prescott, J. Sanderson, 2017, bioRxiv.

Pooled Sequencing of 531 Genes in Inflammatory Bowel Disease Identifies an Associated Rare Variant in BTNL2 and Implicates Other Immune Related Genes

J. Barrett, M. Parkes, J. Satsangi, 2015, PLoS Genetics.

Mutations in IL36RN/IL1F5 are associated with the severe episodic inflammatory skin disease known as generalized pustular psoriasis.

M. Simpson, S. Spain, F. Nestle, 2011, American journal of human genetics.

Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.

Rachel M. Brown, M. Simpson, L. Mulligan, 2016, Human molecular genetics.

MED12, TERT promoter and RBM15 mutations in primary and recurrent phyllodes tumours

M. Simpson, E. Sawyer, I. Tomlinson, 2018, British Journal of Cancer.

Non-syndromic severe hypodontia caused by a novel frameshift insertion mutation in the homeobox of the MSX1 gene.

M. Simpson, M. Abid, P. T. Sharpe, 2017, Archives of oral biology.

Endogenous spartin, mutated in hereditary spastic paraplegia, has a complex subcellular localization suggesting diverse roles in neurons.

M. Simpson, A. Crosby, H. Patel, 2006, Experimental cell research.

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome.

L. Vissers, W. Reardon, E. Bongers, 2012, American journal of human genetics.

Novel Genetic, Clinical, and Pathomechanistic Insights into TFG‐Associated Hereditary Spastic Paraplegia

M. Simpson, M. Patton, R. Trembath, 2016, Human mutation.

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.

W. Reardon, M. Simpson, R. Trembath, 2011, American journal of human genetics.

De novo mutations implicate novel genes in systemic lupus erythematosus

A. Syvänen, M. Simpson, S. Sauer, 2017, Human molecular genetics.

A mutation in the LMOD1 actin-binding domain segregating with disease in a large British family with thoracic aortic aneurysms and dissections

M. Jahangiri, E. Behr, M. Simpson, 2017, bioRxiv.

Frequency of pathogenic germline variants in BRCA1, BRCA2, PALB2, CHEK2 and TP53 in ductal carcinoma in situ diagnosed in women under the age of 50 years

S. Pinder, M. Simpson, E. Sawyer, 2019, Breast Cancer Research.

SLFN14 mutations underlie thrombocytopenia with excessive bleeding and platelet secretion defects.

M. Simpson, S. Watson, M. Lordkipanidzé, 2015, The Journal of clinical investigation.

Use of next‐generation sequencing and candidate gene analysis to identify underlying defects in patients with inherited platelet function disorders

M. Simpson, M. Lordkipanidzé, P. Gissen, 2015, Journal of thrombosis and haemostasis : JTH.

De novo mutations in MLL cause Wiedemann-Steiner syndrome.

M. Simpson, R. Trembath, M. Irving, 2012, American journal of human genetics.

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.

Predicting the functional consequences of non-synonymous DNA sequence variants--evaluation of bioinformatics tools and development of a consensus strategy.

Thomas Schlitt, Costas S Iliopoulos, Kimon Frousios, 2013, Genomics.

A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease

Rachel M. Brown, M. Simpson, R. Trembath, 2013, Orphanet Journal of Rare Diseases.

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.

Diagnostic strategies in CADASIL

M. Simpson, H. Markus, A. Crosby, 2002, Neurology.

PIK3CA mutations are common in lobular carcinoma in situ, but are not a biomarker of progression

S. Pinder, M. Simpson, E. Sawyer, 2017, Breast Cancer Research.

Candidate driver genes involved in genome maintenance and DNA repair in Sézary syndrome.

M. Simpson, S. Whittaker, Charlotte E. Flanagan, 2016, Blood.

AP1S3 mutations are associated with pustular psoriasis and impaired Toll-like receptor 3 trafficking.

A. Smahi, C. Prins, M. Simpson, 2014, American journal of human genetics.

Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes.

M. Simpson, R. Trembath, A. Burden, 2013, The Journal of investigative dermatology.

Homozygous missense mutation in IL36RN in generalized pustular dermatosis with intraoral involvement compatible with both AGEP and generalized pustular psoriasis.

M. Simpson, A. Navarini, N. Yawalkar, 2015, JAMA dermatology.

Rare variations in IL36RN in severe adverse drug reactions manifesting as acute generalized exanthematous pustulosis.

M. Simpson, R. Trembath, M. Mockenhaupt, 2013, The Journal of investigative dermatology.

Noncardiac genetic predisposition in sudden infant death syndrome

E. Behr, M. Simpson, D. Tester, 2018, Genetics in Medicine.

Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype

Sahar Mansour, Richard Trembath, Glen Brice, 2011, Journal of Medical Genetics.

Mutation in GNE is associated with severe congenital thrombocytopenia.

M. Simpson, S. Watson, J. Motwani, 2018, Blood.

1 MUTATION IN GNE IS ASSOCIATED WITH A SEVERE FORM OF CONGENITAL THROMBOCYTOPENIA

M. Simpson, S. Watson, J. Motwani, 2018 .

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.

Mutations in TJP2 cause progressive cholestatic liver disease

Colin A. Johnson, Richard J. Thompson, Joshua D. Smith, 2014, Nature Genetics.

Identification of rare, disease-associated variants in the promoter region of the RNF114 psoriasis susceptibility gene.

M. Simpson, R. Trembath, A. Burden, 2012, The Journal of investigative dermatology.

The future of genomics for developmentalists

R. Plomin, M. Simpson, 2013, Development and Psychopathology.

Progressive hyperpigmentation in a Taiwanese child due to an inborn error of vitamin B12 metabolism (cblJ)

M. Simpson, M. Akiyama, T. Takeichi, 2015, The British journal of dermatology.

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

E. Bertini, M. Simpson, H. Goebel, 2012, Nature Genetics.

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

Sahar Mansour, Richard C Trembath, Russell Keenan, 2011, Nature Genetics.

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

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

Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder

Matthew H. Brush, Sarah E. Gould, Jean M. Davidson, 2018, American journal of human genetics.

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

Robert W. Taylor, H. Prokisch, M. Simpson, 2017, neurogenetics.

Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy.

M. Simpson, M. Vikkula, R. Trembath, 2012, American journal of human genetics.

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.

Cardiac Genetic Predisposition in Sudden Infant Death Syndrome.

E. Behr, M. Simpson, D. Tester, 2018, Journal of the American College of Cardiology.

Development of antidrug antibodies against adalimumab maps to variation within the HLA-DR peptide-binding groove

M. Simpson, A. Burden, J. Saklatvala, 2023, JCI insight.

Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.

Andrew H Crosby, Teepu Siddique, T. Siddique, 2008, American journal of human genetics.

HLA-C*06:02 genotype is a predictive biomarker of biologic treatment response in psoriasis.

C. Curtis, M. Simpson, S. Lee, 2019, The Journal of allergy and clinical immunology.

Fine mapping genetic associations between the HLA region and extremely high intelligence

G. Breen, D. Lubinski, W. Iacono, 2017, Scientific Reports.

Thinking positively: The genetics of high intelligence

R. Plomin, P. Lichtenstein, E. Krapohl, 2015, Intelligence.

Exome‐Wide Rare Variant Analyses in Sudden Infant Death Syndrome

E. Behr, M. Simpson, D. Tester, 2018, The Journal of pediatrics.

EPHB4 kinase–inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis

A. Hoischen, Shin Lin, M. Snyder, 2016, The Journal of clinical investigation.

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.

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.

Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes

M. Simpson, W. Tapper, S. Ennis, 2012, Gut.

Syndromic inherited poikiloderma due to a de novo mutation in FAM111B

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

Deficiency of terminal ADP‐ribose protein glycohydrolase TARG1/C6orf130 in neurodegenerative disease

I. Matic, M. Simpson, R. Trembath, 2013, The EMBO journal.

Mutation in Vascular Endothelial Growth Factor-C, a Ligand for Vascular Endothelial Growth Factor Receptor-3, Is Associated With Autosomal Dominant Milroy-Like Primary Lymphedema

M. Simpson, S. Mansour, G. Brice, 2013, Circulation research.

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.

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase

R. Dwek, H. Cross, M. Simpson, 2004, Nature Genetics.

Genome-wide association meta-analysis identifies 29 new acne susceptibility loci

Laurent F. Thomas, Michelle K. Lupton, Jiali Han, 2022, Nature Communications.

Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism

Martin A. M. Reijns, P. Tomançak, N. Prescott, 2017, Nature Genetics.

Patients with triple-negative, JAK2V617F- and CALR-mutated essential thrombocythemia share a unique gene expression signature.

M. Simpson, G. Mufti, K. Mills, 2021, Blood advances.

Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia

Stephen W. Wilson, V. Tiranti, J. Rihel, 2016, Nature Communications.

Confirmation of Cause of Death Via Comprehensive Autopsy and Whole Exome Molecular Sequencing in People With Epilepsy and Sudden Unexpected Death

W. Edwards, E. Behr, E. So, 2021, Journal of the American Heart Association.

Founder mutation in dystonin‐e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait

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

Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3.

H. Cross, M. Simpson, A. Crosby, 2009, American journal of kidney diseases : the official journal of the National Kidney Foundation.

An In-Depth Characterization of the Major Psoriasis Susceptibility Locus Identifies Candidate Susceptibility Alleles within an HLA-C Enhancer Element

M. Simpson, A. Hayday, S. Spain, 2013, PloS one.

De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

Tomas W. Fitzgerald, R. Murray, G. Kirov, 2019, European Journal of Human Genetics.

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.

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.

Serpentine fibula polycystic kidney syndrome is part of the phenotypic spectrum of Hajdu–Cheney syndrome

S. Robertson, M. Simpson, M. Irving, 2011, European Journal of Human Genetics.

Exome Sequencing Highlights a Potential Role for Concealed Cardiomyopathies in Youthful Sudden Cardiac Death

E. Behr, M. Simpson, D. Tester, 2021, Circulation. Genomic and precision medicine.

The ADAMTS13–VWF axis is dysregulated in chronic thromboembolic pulmonary hypertension

J. Barberà, M. Simpson, M. Bleda, 2019, European Respiratory Journal.

Germline Mutations in the CDKN 2 B Tumor Suppressor Gene Predispose to Renal Cell Carcinoma

T. Blundell, M. Simpson, R. Trembath, 2015 .

Genetic variation in schlafen genes in a patient with a recapitulation of the murine Elektra phenotype.

M. Simpson, L. Notarangelo, J. Walter, 2014, The Journal of allergy and clinical immunology.

Importance of Variant Interpretation in Whole-Exome Molecular Autopsy: Population-Based Case Series

E. Behr, M. Simpson, D. Tester, 2018, Circulation.

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.

Complicated Hereditary Spastic Paraplegia with Thin Corpus Callosum (HSP‐TCC) and Childhood Onset

M. Simpson, C. Bönnemann, A. Crosby, 2005, Neuropediatrics.

A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia

M. Simpson, M. Patton, A. Crosby, 2005, Neurogenetics.

Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

D. Hernandez, M. Nalls, J. Hoenicka, 2019, npj Parkinson's Disease.

Exome Sequencing and Rare Variant Analysis Reveals Multiple Filaggrin Mutations in Bangladeshi Families with Atopic Eczema and Additional Risk Genes.

X. F. C. C. Wong, M. Tang, J. Common, 2018, The Journal of investigative dermatology.

Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene

M. Simpson, D. Chitayat, M. Irving, 2016, American journal of medical genetics. Part A.

Non-Cardiac Genetic Predisposition in Sudden Infant Death Syndrome Short Title: Gray –Non-Cardiac SIDS-Susceptibility Genes

E. Behr, M. Simpson, D. Tester, 2018 .

Patient-specific induced-pluripotent stem cells-derived cardiomyocytes recapitulate the pathogenic phenotypes of dilated cardiomyopathy due to a novel DES mutation identified by whole exome sequencing.

P. Sham, C. Siu, Jinqiu Zhang, 2013, Human molecular genetics.

Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish

H. Cross, M. Simpson, M. Patton, 2007, Heart.

A Mutation in VEGFC, a Ligand for VEGFR3, is Associated with Autosomal Dominant Milroy-like Primary Lymphedema

M. Simpson, S. Mansour, G. Brice, 2013 .

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.

380 Exome sequencing and rare variant analysis reveals multiple filaggrin mutations in Bangladeshi atopic eczema families and novel risk genes

J. Common, D. Margolis, D. Kelsell, 2016 .

Truncating mutation in intracellular phospholipase A1 gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54)

J. Al-Aama, M. Simpson, H. Mohamoud, 2015, BMC Research Notes.

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.

PIK3CA mutations are common in lobular carcinoma in situ, but are not a biomarker of progression

S. Pinder, M. Simpson, E. Sawyer, 2017, Breast Cancer Research.

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 .

Application of information theoretic feature selection and machine learning methods for the development of genetic risk prediction models

A. Barton, M. Simpson, J. Bowes, 2021, Scientific Reports.

PADI3, hair disorders and genomic investigation

M. Simpson, J. McGrath, M. Ohyama, 2019, British Journal of Dermatology.

Genetic variation within genes associated with mitochondrial function is significantly associated with later age at onset of Parkinson disease and contributes to disease risk

M. Nalls, A. Singleton, C. Blauwendraat, 2018, bioRxiv.

Next-Generation Diagnostics for Genodermatoses.

M. Simpson, R. Cho, J. McGrath, 2012, The Journal of investigative dermatology.

Massively parallel sequencing and identification of genes for primary lymphoedema: a perfect fit

M. Simpson, S. Jeffery, P. Ostergaard, 2011, Clinical genetics.

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.

07 Defective mitochondrial mRNA maturation is associated with spastic ataxia

H. Cross, M. Simpson, M. Patton, 2010, Journal of Neurology, Neurosurgery & Psychiatry.

University of Birmingham Mutation in GNE is associated with a Severe Form of Congenital Thrombocytopenia

M. Simpson, S. Watson, J. Motwani, 2018 .

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.

Truncating mutation in intracellular phospholipase A1 gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54)

J. Al-Aama, M. Simpson, H. Mohamoud, 2015, BMC Research Notes.

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.

Letter regarding article by Norman et al, "Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy" - Response

M. Simpson, J. Mogensen, P. Syrris, 2006 .

Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study

D. Kullmann, E. Behr, S. Sisodiya, 2018, The Lancet.

Mutation in GNE is associated with severe congenital thrombocytopenia.

M. Simpson, S. Watson, J. Motwani, 2018, Blood.

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.

Cardiac Genetic Predisposition in Sudden Infant Death Syndrome.

E. Behr, M. Simpson, D. Tester, 2018, Journal of the American College of Cardiology.

Noncardiac genetic predisposition in sudden infant death syndrome

E. Behr, M. Simpson, D. Tester, 2018, Genetics in Medicine.

Noncardiac genetic predisposition in sudden infant death syndrome. Genetics in Medicine

E. Behr, M. Simpson, D. Tester, 2018 .

DIFFERENCES IN CLINICAL FEATURES AND COMORBID BURDEN BETWEEN HLA-C*06:02 CARRIER GROUPS IN MORE THAN 9,000 PEOPLE WITH PSORIASIS.

C. Curtis, M. Simpson, P. Di Meglio, 2021, The Journal of investigative dermatology.

Autosomal recessive hypotrichosis with loose anagen hairs associated with TKFC mutations *

M. Simpson, F. Fraternali, J. McGrath, 2020, The British journal of dermatology.

Identification of rare, disease-associated variants in the promoter region of the RNF114 psoriasis susceptibility gene.

M. Simpson, R. Trembath, A. Burden, 2012, The Journal of investigative dermatology.

Lethal cystic kidney disease in Amish neonates associated with homozygous nonsense mutation of NPHP3.

H. Cross, M. Simpson, A. Crosby, 2009, American journal of kidney diseases : the official journal of the National Kidney Foundation.

Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.

G. Carvill, I. Scheffer, H. Mefford, 2019, American journal of human genetics.

De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes

Tomas W. Fitzgerald, G. Kirov, Tesca Fitzgerald, 2019, European Journal of Human Genetics.

Gain-of-function mutations of ARHGAP31, a Cdc42/Rac1 GTPase regulator, cause syndromic cutis aplasia and limb anomalies.

W. Reardon, M. Simpson, R. Trembath, 2011, American Journal of Human Genetics.

Confirmation by Exome Sequencing of the Pathogenic Role of NCSTN Mutations in Acne Inversa (Hidradenitis Suppurativa)

M. Simpson, R. Trembath, A. Pink, 2011 .

Generalized pustular eruptions: time to adapt the disease taxonomy to the genetic architecture?

M. Simpson, R. Trembath, M. Mockenhaupt, 2014, The Journal of investigative dermatology.

Candidate driver genes involved in genome maintenance and DNA repair in Sézary syndrome.

M. Simpson, S. Whittaker, Charlotte E. Flanagan, 2016, Blood.

Massively parallel sequencing and identification of genes for primary lymphoedema: a perfect fit

M. Simpson, S. Jeffery, P. Ostergaard, 2011, Clinical genetics.

De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity

M. Simpson, S. Jayawant, J. Poulton, 2018, Neurology: Genetics.