L A Brueton

Spectrum of clinical features associated with interstitial chromosome 22q11 deletions: a European collaborative study.

A K Ryan, Judith A. Goodship, David I. Wilson et al. · Journal of Medical Genetics · 1997 · 1.2K citations · Full text

Cytogenetics, Genetics, Genetic Epidemiology +23

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

Derek H.K. Lim, Sarah Bowdin, Louise Tee et al. · Human Reproduction · 2008 · 274 citations

Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of <i>EHMT1</i> haploinsufficiency to the core phenotype

Tjitske Kleefstra, W. A. van Zelst‐Stams, Willy M. Nillesen et al. · Journal of Medical Genetics · 2009 · 257 citations

Assisted reproductive therapies and imprinting disorders—a preliminary British survey

Alastair Sutcliffe, Catherine Peters, Sarah Bowdin et al. · Human Reproduction · 2005 · 254 citations · Full text

Mutation Analysis of Core Binding Factor A1 in Patients with Cleidocranial Dysplasia

Ivo Quack, Michael Stock, A.S Aylsworth et al. · The American Journal of Human Genetics · 1999 · 212 citations · Full text

Cleidocranial Dysplasia, Mendelian Disorder, Genetic Disorder +6