W. Lam

发表

Uptake of testing for BRCA1/2 mutations in South East Scotland

H. Campbell, B. Bernhard, S. Holloway, 2008, European Journal of Human Genetics.

The 12q14 microdeletion syndrome: six new cases confirming the role of HMGA2 in growth

R. Regan, S. Ennis, J. Crolla, 2011, European Journal of Human Genetics.

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.

W. Reik, S. Bowdin, E. Blair, 2008, Human reproduction.

Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data

J. Rosenfeld, C. Shaw, Marilyn C. Jones, 2022, American journal of medical genetics. Part A.

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

J. Rosenfeld, C. Shaw, Soo-Mi Park, 2022, American journal of medical genetics. Part A.

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.

Ronald Cohn, Maria Kousi, Nicholas Katsanis, 2017, American journal of human genetics.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Evidence for 28 genetic disorders discovered by combining healthcare and research data

Patrick J. Short, M. Hurles, L. Vissers, 2020, Nature.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Mark T. Handley, M. Hurles, D. Grozeva, 2017, Genetics in Medicine.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Martin S. Taylor, A. Green, M. Bitner-Glindzicz, 2014, Journal of Medical Genetics.

Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation

W. Reik, P. Schofield, T. Mukai, 1999, Journal of Medical Genetics.

A balanced reciprocal translocation in a case of hypomelanosis of Ito with confirmation of mosaicism using buccal cell interphase FISH

D. Fitzpatrick, L. Harewood, W. Lam, 2006, American journal of medical genetics. Part A.

Whole genome sequencing of mutation-negative individuals with Cornelia de Lange Syndrome

K. Prescott, S. Holden, N. Whiffin, 2022, medRxiv.

How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

W. Reardon, A. Collins, J. Clayton-Smith, 2011, European Journal of Human Genetics.

Decreased cholesterol synthesis as a possible aetiological factor in malformations of trisomy 18.

W. Reardon, D. Fitzpatrick, R. Kelley, 2006, European journal of medical genetics.

The 12 q 14 microdeletion syndrome : six new cases confirming the role of HMGA 2 in growth

R. Regan, S. Ennis, J. Crolla, 2011 .

Sonic hedgehog mutations are an uncommon cause of developmental eye anomalies

A. Wyatt, A. Salt, N. Ragge, 2010, American journal of medical genetics. Part A.

Inequality of use of Cancer Genetics Services by members of breast, ovarian and colorectal cancer families in South East Scotland

H. Campbell, R. Cetnarskyj, B. Bernhard, 2008, Familial Cancer.

Analysis of germline

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

Imprinting of IGF2 and H19: lack of reciprocity in sporadic Beckwith-Wiedemann syndrome.

W. Reik, P. Schofield, J. Joyce, 1997, Human molecular 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.

Clinical and molecular consequences of disease-associated de novo mutations in SATB2

Ibitoye, Fitzpatrick, Connell, 2017, Genetics in Medicine.

Clinical and molecular genetic features of Beckwith-Wiedemann syndrome associated with assisted reproductive technologies.

W. Reik, S. Bowdin, E. Blair, 2008, Human reproduction.