Cynthia S Gubbels

Pankaj B Agrawal 5 collaborations

Timothy W Yu 5 collaborations

Casie A Genetti 4 collaborations

Alan H Beggs 3 collaborations

Jill A Madden 2 collaborations

Monica H Wojcik 2 collaborations

Olaf Bodamer 2 collaborations

Jane Juusola 2 collaborations

Kimberly A Aldinger 2 collaborations

William B Dobyns 2 collaborations

Grace E VanNoy 1 collaboration

Deborah Copenheaver 1 collaboration

Sandra Yang 1 collaboration

Nina B Gold 1 collaboration

Joan Stoler 1 collaboration

Richard B Parad 1 collaboration

Sergei Roumiantsev 1 collaboration

Oguz Kanca 1 collaboration

Jonathan C Andrews 1 collaboration

Pei-Tseng Lee 1 collaboration

Chirag Patel 1 collaboration

Stephen R Braddock 1 collaboration

Anne M Slavotinek 1 collaboration

Julie S Cohen 1 collaboration

Judy Williams 1 collaboration

Maanasa Indaram 1 collaboration

Ali Fatemi 1 collaboration

Gilbert Vezina 1 collaboration

Cas Simons 1 collaboration

Joanna Crawford 1 collaboration

C Christopher Lau 1 collaboration

None None 1 collaboration

Wendy K Chung 1 collaboration

Thomas C Markello 1 collaboration

David R Adams 1 collaboration

William A Gahl 1 collaboration

Michael F Wangler 1 collaboration

Shinya Yamamoto 1 collaboration

Hugo J Bellen 1 collaboration

May Christine V Malicdan 1 collaboration

Didem Demirbas 1 collaboration

Xiaoping Huang 1 collaboration

Vikram Daesety 1 collaboration

Susan Feenstra 1 collaboration

Minela Haskovic 1 collaboration

Wanshu Qi 1 collaboration

Leah Hecht 1 collaboration

Harvey L Levy 1 collaboration

Susan E Waisbren 1 collaboration

Gerard T Berry 1 collaboration

Alissa M D'Gama 1 collaboration

William J Brucker 1 collaboration

Tian Zhang 1 collaboration

Sacha Ferdinandusse 1 collaboration

Jiahai Shi 1 collaboration

Patricia Ellen Grant 1 collaboration

Grace VanNoy 1 collaboration

Amy Kritzer 1 collaboration

Klaus Schmitz-Abe 1 collaboration

Qifei Li 1 collaboration

Samantha M Rosen 1 collaboration

Neeharika Nori 1 collaboration

Sadhana Ponnaluri 1 collaboration

Jonathan D Picker 1 collaboration

Anne H O'Donnell-Luria 1 collaboration

Catherine A Brownstein 1 collaboration

Holly K Harris 1 collaboration

Tojo Nakayama 1 collaboration

Jenny Lai 1 collaboration

Boxun Zhao 1 collaboration

Nikoleta Argyrou 1 collaboration

Aubrie Soucy 1 collaboration

Victoria Suslovitch 1 collaboration

Lance H Rodan 1 collaboration

George E Tiller 1 collaboration

Gaetan Lesca 1 collaboration

Karen W Gripp 1 collaboration

Reza Asadollahi 1 collaboration

Ada Hamosh 1 collaboration

Carolyn D Applegate 1 collaboration

Peter D Turnpenny 1 collaboration

Marleen E H Simon 1 collaboration

Catharina M L Volker-Touw 1 collaboration

Koen L I van Gassen 1 collaboration

Ellen van Binsbergen 1 collaboration

Rolph Pfundt 1 collaboration

Thatjana Gardeitchik 1 collaboration

Bert B A de Vries 1 collaboration

LaDonna L Immken 1 collaboration

Catherine Buchanan 1 collaboration

Marcia Willing 1 collaboration

Tomi L Toler 1 collaboration

Emily Fassi 1 collaboration

Laura Baker 1 collaboration

Fleur Vansenne 1 collaboration

Xiadong Wang 1 collaboration

Julian L Ambrus 1 collaboration

Madeleine Fannemel 1 collaboration

Jennifer E Posey 1 collaboration

Emanuele Agolini 1 collaboration

Antonio Novelli 1 collaboration

Anita Rauch 1 collaboration

Paranchai Boonsawat 1 collaboration

Christina R Fagerberg 1 collaboration

Martin J Larsen 1 collaboration

Maria Kibaek 1 collaboration

Audrey Labalme 1 collaboration

Alice Poisson 1 collaboration

Katelyn K Payne 1 collaboration

Laurence E Walsh 1 collaboration

Jorune Balciuniene 1 collaboration

Cara Skraban 1 collaboration

Christopher Gray 1 collaboration

Jill Murrell 1 collaboration

Caleb P Bupp 1 collaboration

Giulia Pascolini 1 collaboration

Paola Grammatico 1 collaboration

Martin Broly 1 collaboration

Sébastien Küry 1 collaboration

Mathilde Nizon 1 collaboration

Iqra Ghulam Rasool 1 collaboration

Muhammad Yasir Zahoor 1 collaboration

Cornelia Kraus 1 collaboration

André Reis 1 collaboration

Muhammad Iqbal 1 collaboration

Kevin Uguen 1 collaboration

Severine Audebert-Bellanger 1 collaboration

Claude Ferec 1 collaboration

Sylvia Redon 1 collaboration

Janice Baker 1 collaboration

Yunhong Wu 1 collaboration

Guiseppe Zampino 1 collaboration

Steffan Syrbe 1 collaboration

Ines Brosse 1 collaboration

Rami Abou Jamra 1 collaboration

Lilian L Cohen 1 collaboration

Anne Blomhoff 1 collaboration

Cyril Mignot 1 collaboration

Boris Keren 1 collaboration

Thomas Courtin 1 collaboration

Affiliations

Publications (6)

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.

De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.

The ability of an LC-MS/MS-based erythrocyte GALT enzyme assay to predict the phenotype in subjects with GALT deficiency.

A phenotypically severe, biochemically "silent" case of HIBCH deficiency in a newborn diagnosed by rapid whole exome sequencing and enzymatic testing.

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior.

Réseau de co-auteurs