Phenotypic spectrum associated with SPECC1L pathogenic variants: new families and critical review of the nosology of Teebi, Opitz GBBB, and Baraitser-Winter syndromes
Elizabeth Bhoj(Children's Hospital of Philadelphia), Alain Verloès(Assistance Publique – Hôpitaux de Paris), Elaine H. Zackai(Children's Hospital of Philadelphia), Elena Repnikova(Children's Mercy Hospital), Isabelle Thiffault(Children's Mercy Hospital), Mirena C. Astiazarán(Institute of Ophthalmology), Daphné Lehalle(CHU Dijon Bourgogne), Luis A. Gonzalez-Nieto(Institute of Ophthalmology), Pauline Bogaard(Aalborg University Hospital), Patrick Callier(Université de Bourgogne), Shivarajan Amudhavalli(Children's Mercy Hospital), K. Taylor Wild(Children's Hospital of Philadelphia), Séverine Drunat(Délégation Paris 7), Annick Toutain(University Medical Center Groningen), Ana Carolina de Carvalho(The University of Sydney), Dominique Bonneau(Centre Hospitalier Universitaire d'Angers), Carol Saunders(Children's Mercy Hospital), Irfan Saadi(University of Kansas Medical Center), Kadri Karaer, Irene Kibæk Nielsen(Aalborg University Hospital), Yoann Vial(Délégation Paris 5), Stine Leenskjold(Aalborg University Hospital), Håkon Håkonarson(Children's Hospital of Philadelphia), Katheryn Grand(Cedars-Sinai Medical Center), Ida Bay Lund(Aalborg University Hospital), Dong Li(Children's Hospital of Philadelphia), Damien Haye(Hôpital l'Archet)
Cited by 35
Related Papers
Inherited determinants of Crohn's disease and ulcerative colitis phenotypes: a genetic association study
|The Lancet|2015|776
An Integrated Clinico-Metabolomic Model Improves Prediction of Death in Sepsis
|Science Translational Medicine|2013|509
Common variants at five new loci associated with early-onset inflammatory bowel disease
|Nature Genetics|2009|483
Meta-Analysis of Genome-Wide Association Studies of Attention-Deficit/Hyperactivity Disorder
|Journal of the American Academy of Child & Adolescent Psychiatry|2010|469