W. Lam

发表

Large-scale discovery of novel genetic causes of developmental disorders

Tomas W. Fitzgerald, M. Hurles, J. Barrett, 2014, Nature.

2018-1105 CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Alessandro, G. J. Swaminathan, A. Green, 2019 .

Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

G. J. Swaminathan, N. Carter, M. Hurles, 2019, American journal of human genetics.

De novo mutations in fetal brain specific enhancers play a significant role in severe intellectual disability

D. Fitzpatrick, Inês Cebola, Matías G De Vas, 2019 .

The contribution of non-canonical splicing mutations to severe dominant developmental disorders

Patrick J. Short, M. Hurles, J. Barrett, 2018 .

Pathogenicity and selective constraint on variation near splice sites

Patrick J. Short, M. Hurles, J. Barrett, 2018, bioRxiv.

Epigenetic modification and uniparental inheritance of H19 in Beckwith-Wiedemann syndrome.

W. Reik, P. Schofield, I. Temple, 1997, Journal of medical genetics.

Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature

H. Firth, A. Fry, D. Pilz, 2017, Journal of Medical Genetics.

Analysis of germline CDKN 1 C ( p 57 KIP 2 ) mutations in familial and sporadic Beckwith-Wiedemann syndrome ( BWS ) provides a novel genotype-phenotype correlation

W. Reik, P. Schofield, T. Mukai, 1999 .

mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation

W. Reik, P. Schofield, T. Mukai, 1999 .

Novel de novo EEF1A2 missense mutations causing epilepsy and intellectual disability

F. Elmslie, D. Soares, C. Abbott, 2016, Molecular genetics & genomic medicine.

Novel de novo EEF 1 A 2 missense mutations causing epilepsy and intellectual disability

F. Elmslie, D. Soares, C. Abbott, 2016 .

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

K. Nathanson, J. Graham, T. Pierson, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Mini Symposium: Rare And Complex DisordersBeckwith-Wiedemann syndrome

E. Maher, W. Lam, 1998 .

Further evidence of the increased risk for malignant peripheral nerve sheath tumour from a Scottish cohort of patients with neurofibromatosis type 1

W. Lam, S. Holloway, R. Davidson, 2007, Journal of Medical Genetics.

The spectra of clinical phenotypes in aplasia cutis congenita and terminal transverse limb defects

R. Trembath, W. Wuyts, M. Zenker, 2009, American journal of medical genetics. Part A.

CHD 3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, G. J. Swaminathan, A. Green, 2019 .

De novo variants in population constrained fetal brain enhancers and intellectual disability

D. Fitzpatrick, Inês Cebola, J. Ferrer, 2019, bioRxiv.

Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing

Sancha Martin, E. Tobias, A. Biankin, 2022, European Journal of Human Genetics.

Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity

S. Robertson, D. Baralle, R. Heller, 2020, European Journal of Human Genetics.

Beckwith-Wiedemann syndrome in a child with chromosome 18q deletion.

D. Fitzpatrick, E. Maher, C. Brewer, 1998, Journal of medical genetics.

WT1 mutations in Meacham syndrome suggest a coelomic mesothelial origin of the cardiac and diaphragmatic malformations

W. Reardon, J. Tolmie, D. Fitzpatrick, 2007, American journal of medical genetics. Part A.

Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.

C. Mercer, D. Wieczorek, Harris Morrison, 2012, Human molecular genetics.

Mutation analysis of H19 andNAP1L4 (hNAP2) candidate genes and IGF2 DMR2 in Beckwith-Wiedemann syndrome

W. Reik, P. Schofield, A. Murrell, 2000, Journal of medical genetics.

Insights into the biochemical and genetic basis of glucokinase activation from naturally occurring hypoglycemia mutations.

A. Hattersley, S. Ellard, A. Gloyn, 2003, Diabetes.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Early development of infants with neurofibromatosis type 1: a case series

P. Bolton, A. Pickles, S. Baron-Cohen, 2017, Molecular Autism.

Title 1 Pathogenic variants causing ABL 1 malformation syndrome cluster in a myristoyl-2 binding pocket and increase tyrosine kinase activity 3 4 Running title 5 ABL 1 pathogenic variants 6

S. Robertson, D. Baralle, R. Heller, 2020 .

Extending the phenotypic spectrum of CHARGE syndrome: a case with preaxial polydactyly.

W. Lam, Andrew G L Douglas, 2010, Clinical dysmorphology.

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, American journal of human genetics.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Randomised controlled trial of simvastatin treatment for autism in young children with neurofibromatosis type 1 (SANTA)

Alcino J. Silva, R. Emsley, Jonathan Green, 2018, Molecular Autism.