Molecular and Clinical Analyses of Greig Cephalopolysyndactyly and Pallister-Hall Syndromes: Robust Phenotype Prediction from the Type and Position of GLI3 Mutations
Jennifer J. Johnston(National Institutes of Health), Leslie G. Biesecker(National Institutes of Health), Angela E. Lin(Massachusetts General Hospital), Billur Moghaddam, Elaine H. Zackai(Children's Hospital of Philadelphia), Mary Beth Dinulos(Dartmouth–Hitchcock Medical Center), Dorothy K. Grange(Washington University in St. Louis), David J. Aughton(Beaumont Hospital, Royal Oak), Nancy J. Mendelsohn, Joyce Turner(National Institutes of Health), Graeme C. Black(University of Manchester), Carlo Marcelis(Radboud University Nijmegen), Lewis B. Holmes(Harvard University), Touran M. Zadeh, John M. Graham(Cedars-Sinai Medical Center), Mark Hannibal, David B. Flannery(Augusta University), Isabelle Olivos‐Glander(National Institutes of Health), John A. Phillips(Vanderbilt University), Catherine M. Walsh Vockley(Mayo Clinic), Marie McDonald(Duke University), Michael J. Bamshad(University of Washington), Laura Mazzanti(University of Bologna), Joan M. Stoler(Harvard University Press), Laurie S. Sadler(University at Buffalo, State University of New York), Arthur S. Aylsworth, Ruth Newbury‐Ecob(University Hospitals Bristol NHS Foundation Trust), H. Eugene Hoyme(Sanford Health), John B. Moeschler(Dartmouth–Hitchcock Medical Center), David Tilstra(Centracare), Emma McCann(University of Liverpool), Kathryn F. Peters(Pennsylvania State University), Margaret H. Abbott(Huntington University), Wolfram Henn(Saarland University), Emma Elson(St Mary's Hospital), David Manchester(Children's Hospital Colorado), Patrick MacLeod(Health Sciences Centre), Cynthia J. Curry(Baylor College of Medicine), Michelle Fox(University of California, Los Angeles), Louise Brueton(London North West Healthcare NHS Trust), Carol Booth(Advocate Lutheran General Hospital), Alan E. Guttmacher(National Human Genome Research Institute), Roberta A Pagon(University of Washington), Albert David, RaoulC.M. Hennekam(University of Amsterdam), Giovanni Neri(Catholic University of America), Christina Killoran(Trafford General Hospital), Kathleen A. Leppig(Group Health Cooperative)
Cited by 277
Related Papers
Finding the missing heritability of complex diseases
|Nature|2009|8.5k
Global birth prevalence of congenital heart defects 1970–2017: updated systematic review and meta-analysis of 260 studies
|International Journal of Epidemiology|2019|1.4k
Replicating genotype–phenotype associations
|Nature|2007|1.4k
Clinical practice guidelines for the care of girls and women with Turner syndrome: proceedings from the 2016 Cincinnati International Turner Syndrome Meeting
|European Journal of Endocrinology|2017|1.1k