Wendy Smith - Barbara Bush Children's Hospital

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论文共 24 篇作者统计合作学者相似作者

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Medical Genetics Education in the Midst of the COVID-19 Pandemic: Shared Resources

Debra S. Regier,Wendy E. Smith,Heather M. Byers

American journal of medical genetics Part A（2020）

引用24浏览0WOS引用

De Novo TBR1 Variants Cause a Neurocognitive Phenotype with ID and Autistic Traits: Report of 25 New Individuals and Review of the Literature

Sophie Nambot,Laurence Faivre,Ghayda Mirzaa,Julien Thevenon,Ange-Line Bruel,Anne-Laure Mosca-Boidron,Alice Masurel-Paulet,Alice Goldenberg,Nathalie Le Meur,Aude Charollais, Cyril Mignot,Florence Petit,Massimiliano Rossi,Julia Metreau,Valérie Layet,Daniel Amram,Odile Boute-Bénéjean,Elizabeth Bhoj,Margot A. Cousin,Teresa M. Kruisselbrink,Brendan C. Lanpher, Eric W. Klee,Elise Fiala, Dorothy K. Grange,Wendy S. Meschino,Susan M. Hiatt, Gregory M. Cooper, Hilde Olivié,Wendy E. Smith,Meghan Dumas,Anna Lehman, Cara Inglese,Mathilde Nizon,Renzo Guerrini,Annalisa Vetro, Eitan S. Kaplan, Dolores Miramar,Julien Van Gils, Patricia Fergelot,Olaf Bodamer,Johanna C. Herkert,Sander Pajusalu,Katrin Õunap,James J. Filiano,Thomas Smol, Amélie Piton,Bénédicte Gérard,Sandra Chantot-Bastaraud,Thierry Bienvenu, Dong Li,Jane Juusola,Koen Devriendt,Frederic Bilan,Charlotte Poé,Martin Chevarin,Thibaud Jouan,Emilie Tisserant,Jean-Baptiste Rivière,Frédéric Tran Mau-Them, Christophe Philippe,Yannis Duffourd,William B. Dobyns,Robert Hevner,Christel Thauvin-Robinet

European Journal of Human Genetics（2020）

引用0浏览0引用

De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

Nambot, Sophie,Faivre, Laurence,Mirzaa, Ghayda,Thevenon, Julien,Bruel, Ange-Line,Mosca-Boidron, Anne-Laure,Masurel-Paulet, Alice,Goldenberg, Alice,Le Meur, Nathalie,Charollais, Aude,Mignot, Cyril,Petit, Florence,Rossi, Massimiliano,Metreau, Julia,Layet, Valérie,Amram, Daniel,Boute-Bénéjean, Odile,Bhoj, Elizabeth,Cousin, Margot A.,Kruisselbrink, Teresa M.,Lanpher, Brendan C.,Klee, Eric W.,Fiala, Elise,Grange, Dorothy K.,Meschino, Wendy S.,Hiatt, Susan M.,Cooper, Gregory M., Olivié, Hilde,Smith, Wendy E.,Dumas, Meghan,Lehman, Anna, Inglese, Cara,Nizon, Mathilde,Guerrini, Renzo,Vetro, Annalisa, Kaplan, Eitan S., Miramar, Dolores,Van Gils, Julien,Fergelot, Patricia,Bodamer, Olaf,Herkert, Johanna C.,Pajusalu, Sander,Õunap, Katrin,Filiano, James J.,Smol, Thomas,Piton, Amélie,Gérard, Bénédicte,Chantot-Bastaraud, Sandra,Bienvenu, Thierry, Li, Dong,Juusola, Jane,Devriendt, Koen,Bilan, Frederic,Poé, Charlotte,Chevarin, Martin,Jouan, Thibaud,Tisserant, Emilie,Rivière, Jean-Baptiste,Tran Mau-Them, Frédéric,Philippe, Christophe,Duffourd, Yannis,Dobyns, William B.,Hevner, Robert,Thauvin-Robinet, Christel

European Journal of Human Genetics（2020）

引用22浏览0WOSNATURE引用

Laboratory monitoring of patients with hereditary tyrosinemia type I

Matthew J. Schultz,Brian C. Netzel,Rani H. Singh,Gisele B. Pino,Dimitar K. Gavrilov,Devin Oglesbee,Kimiyo M. Raymond,Piero Rinaldo,Silvia Tortorelli,Wendy E. Smith,Dietrich Matern

MOLECULAR GENETICS AND METABOLISM（2020）

引用3浏览0WOS引用

Safety and Efficacy of Glycerol Phenylbutyrate for Management of Urea Cycle Disorders in Patients Aged 2 Months to 2 Years

Susan A. Berry,Nicola Longo,George A. Diaz,Shawn E. McCandless,Wendy E. Smith,Cary O. Harding,Roberto Zori,Can Ficicioglu,Uta Lichter-Konecki,Beth Robinson,Jerry Vockley

Molecular genetics and metabolism（2019）

引用14浏览0WOS引用

EPG5 Variants with Modest Functional Impact Result in an Ameliorated and Primarily Neurological Phenotype in a 3.5-Year-Old Patient with Vici Syndrome

Megan S Kane, Jia Zhao, Julie Muskett,Amelia Diplock,Siddharth Srivastava,Natalie Hauser,John F Deeken,John E Niederhuber,Wendy E Smith,Thierry Vilboux,Darius Ebrahimi-Fakhari

NEUROPEDIATRICS（2019）

引用5浏览0WOS引用

SUDDEN UNEXPECTED DEATH IN WELL-TREATED CHILDREN WITH PARTIAL ORNITHINE TRANSCARBAMYLASE DEFICIENCY

Amy White,Dawn Peck,Wendy E. Smith

MOLECULAR GENETICS AND METABOLISM（2018）

引用0浏览0引用

Pharmacokinetics of glycerol phenylbutyrate in pediatric patients 2 months to 2 years of age with urea cycle disorders

Susan A Berry,Jerry Vockley,Alexander A Vinks,Min Dong,George A Diaz,Shawn E McCandless,Wendy E Smith,Cary O Harding,Roberto Zori,Can Ficicioglu,Uta Lichter-Konecki,Renee Perdok,Beth Robinson,Robert J Holt,Nicola Longo

Molecular genetics and metabolismno. 3 (2018): 251-257

引用5浏览0WOS引用

Phenylalanine Hydroxylase Deficiency: Diagnosis and Management Guideline

Jerry Vockley,Hans C. Andersson,Kevin M. Antshel,Nancy E. Braverman,Barbara K. Burton,Dianne M. Frazier,John Mitchell,Wendy E. Smith,Barry H. Thompson,Susan A. Berry

GENETICS IN MEDICINE（2014）

引用449浏览0引用

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