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

Morad Ansari(Institute of Genetics and Cancer), Julie Vogt(Birmingham Women's Hospital), Charu Deshpande(Guy's Hospital), Andrew O.M. Wilkie(University of Oxford), Quentin R. V. Ferry(University of Oxford), Kathleen A. Williamson(Institute of Genetics and Cancer), Angela Barnicoat(Great Ormond Street Hospital), Gemma Poke(Institute of Genetics and Cancer), Katta M. Girisha(Manipal Academy of Higher Education), Miranda Splitt(Newcastle upon Tyne Hospital), Hülya Kayserili(Istanbul University), Tessa Homfray(University of London), Alison Ross(Wessex Regional Genetics Laboratory), Marie Falkenberg Smeland(University Hospital of North Norway), John Tolmie(Royal Hospital for Children), Nicola Cooper(Birmingham Women's Hospital), Elisabeth Rosser(Great Ormond Street Hospital), Helen V. Firth(Cambridge University Hospitals NHS Foundation Trust), Jacqueline Cook(Sheffield Children's NHS Foundation Trust), Raoul C. M. Hennekam(Emma Kinderziekenhuis), Jill Clayton‐Smith(St. Mary’s Hospital), Dragana Josifova(Guy's Hospital), Cheng Yee Chan(New South Wales Department of Health), Michael Parker(Wellcome Sanger Institute), Helen Cox(Wellcome Sanger Institute), E. Redeker(University of Amsterdam), Esther Kinning(University Medical Center Groningen), Frances Flinter(Guy's and St Thomas' NHS Foundation Trust), Hemant Bengani(Institute of Genetics and Cancer), Alison Meynert(Institute of Genetics and Cancer), Şahin Avcı(Istanbul University), Emma Wakeling(London North West Healthcare NHS Trust), Deirdre Cilliers(Churchill Hospital), Sahar Mansour(St George's, University of London), Fiona Stewart(University of Ulster), Anne Katrin Lampe(Western General Hospital), Elizabeth M. Thompson(Women's and Children's Hospital), Richard B. Fisher(Newcastle upon Tyne Hospital), Catherine Mercer, Alex Magee(University of Ulster), Alan Fryer(University of Liverpool), Jamie S Wee(Kingston Hospital NHS Trust), Diana Johnson(Sheffield Children's NHS Foundation Trust), Helen Kingston(Trafford General Hospital), Christopher Bennett, Angela F. Brady(Northwick Park Hospital), Jane A. Hurst(Great Ormond Street Hospital), Roland Christopher Lochore Aldridge(Institute of Genetics and Cancer), Daniela T. Pilz(University Hospital of Wales), Deborah Ruddy(Guy's Hospital)
Journal of Medical Genetics
August 14, 2014
Cited by 171


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