Clinical reappraisal of <scp>SHORT</scp> syndrome with <i><scp>PIK3R1</scp></i> mutations: toward recommendation for molecular testing and management
Christel Thauvin-Robinet(Hôpital d'Enfants), Yves Reznik(Centre Hospitalier Universitaire de Caen Normandie), Pål R. Njølstad(Haukeland University Hospital), C. Fagour(Centre Hospitalier Universitaire de Bordeaux), David Martin(Hospital Central de la Cruz Roja San José y Santa Adela), Olivier Lascols(Inserm), Paul Kuentz(Centre Hospitalier Universitaire de Besançon), David A. Dyment(Children's Hospital of Eastern Ontario), Lauren Slattery(University of Utah), Rebekah Jobling(Hospital for Sick Children), D. Delesalle(Centre Hospitalier de Valenciennes), Brian Hon‐Yin Chung(Long Island Jewish Medical Center), Jeanne Amiel(Hôpital Necker-Enfants Malades), Ute Moog(Heidelberg University), Christine Binquet(Inserm), Corinne Vigouroux(Sorbonne Université), Pierre Bitoun(Hôpital Jean-Verdier), A. Micheil Innes(University of Calgary), Frédéric Huet(Université de Bourgogne), Tor Claudi(Bodø Science Park (Norway)), S.M. White(The University of Melbourne), D. Héron(Centre d'Épidémiologie sur les Causes Médicales de Décès), Sahar Mansour(St George's, University of London), S. Garcia(Hospital Universitario La Paz), S.L. Sawyer(University of Ottawa), J.A. Bernstein(Stanford University), G. Yoon(Hospital for Sick Children), J. Thevenon(Université de Bourgogne), Marie-Alice Laville(Lyon 1 Université), A. Albanese(St George's Hospital), Jørn V. Sagen(Haukeland University Hospital), Bernard Le Luyer(Université Le Havre Normandie), M. Le Merrer(Hôpital Necker-Enfants Malades), S. Odent(CIC Rennes), J Rivière(Université de Bourgogne), Laurence Faivre(Inserm), Cynthia J. Curry(Baylor College of Medicine), M.L. Nunès(Centre Hospitalier Universitaire de Bordeaux), Judith St‐Onge(Seattle Children's Hospital), M. Mathieu‐Dramard(Clinique Ambroise Paré), Ainhoa Abad López(Hospital Universitario Puerta de Hierro Majadahonda), Sylvie Manouvrier(Centre Hospitalier Universitaire de Lille), Sophy Mo(Centre Hospitalier de l’Université de Montréal), Rainer König(Goethe University Frankfurt)
Cited by 93
Related Papers
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
|Nature Genetics|2012|752
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
|Nature Genetics|2022|613
Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test
|Genetics in Medicine|2017|563
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes
|Nature Genetics|2010|509
Diagnostic criteria for Walker‐Warburg syndrome
|American Journal of Medical Genetics|1989|448