POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies
Kelly Smallwood(Cincinnati Children's Hospital Medical Center), K. Nicole Weaver(Cincinnati Children's Hospital Medical Center), Orrin Devinsky(New York University), Michael Zech(Helmholtz Zentrum München), Boris Keren(Sorbonne Université), Sacha Weber(Centre Hospitalier Universitaire de Caen Normandie), Roger L. Ladda(Penn State Milton S. Hershey Medical Center), Sebastian Lunke(Royal Children's Hospital), Paul A. Trainor(Stowers Institute for Medical Research), Noriko Saitoh(The Cancer Institute Hospital), Kristina Baltrunaite(Cincinnati Children's Hospital Medical Center), Anne Slavotinek(Cincinnati Children's Hospital Medical Center), Laura Raiti(Victorian Clinical Genetics Services), Rhonda E. Schnur(Cooper Medical School of Rowan University), Sandra Whalen(Sorbonne Université), Erin Demo(Children's Healthcare of Atlanta), Laurie Demmer(Carolinas Medical Center), Kazuhiro Maeshima(National Institute of Genetics), Juliane Winkelmann(Helmholtz Zentrum München), Satoru Ide(National Institute of Genetics), Katherine Inskeep(Cincinnati Children's Hospital Medical Center), Amber Begtrup, Bonnie Sullivan(Mercy Hospital), Shimriet Zeidler(Erasmus MC), Robert Jech(Charles University), Anne H. Mardy, Emily R. Gallagher(Johns Hopkins University), Chad Brunswick(Cincinnati Children's Hospital Medical Center), Débora Romeo Bertola(Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo), Susan M. White(The University of Melbourne), Zornitza Stark(Zoos Victoria), Susan L. Sell(Penn State Milton S. Hershey Medical Center), Rolf W. Stottmann(Nationwide Children's Hospital), Margaret P Adam(University of Washington), Jennifer Kussmann(Children's Mercy Hospital), María J. Guillen Sacoto, Carol Saunders(Children's Mercy Hospital), Matěj Škorvánek(University of Pavol Jozef Šafárik), Joseph D. Symonds(Royal Hospital for Children), Corrine Capannari(Cincinnati Children's Hospital Medical Center), Lisa A. Lansdon(Mercy Research), Kristin E.N. Watt(Stowers Institute for Medical Research), Kirsty McWalters, Richard Person(GenVec), Tara Wenger(Seattle Children's Hospital)
Cited by 23
Related Papers
Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders
|New England Journal of Medicine|2013|2k
Effects of Early Integrated Palliative Care in Patients With Lung and GI Cancer: A Randomized Clinical Trial
|Journal of Clinical Oncology|2017|834