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Papers共 23 篇Author StatisticsCo-AuthorSimilar Experts

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Re: Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome (vol 185A, pg 1649, 2021)
Sarah E. Sheppard,Ian M. Campbell,Margaret H. Harr,Nina Gold,Dong Li,Hans T. Bjornsson,Julie S. Cohen,Jill A. Fahrner,Ali Fatemi,Jacqueline R. Harris,Catherine Nowak,Cathy A. Stevens,Katheryn Grand,Margaret Au,John M. Graham,Pedro A. Sanchez-Lara,Miguel Del Campo,Marilyn C. Jones,Omar Abdul-Rahman,Fowzan S. Alkuraya,Jennifer A. Bassetti,Katherine Bergstrom,Elizabeth Bhoj,Sarah Dugan,Julie D. Kaplan,Nada Derar,Karen W. Gripp,Natalie Hauser,A. Micheil Innes,Beth Keena,Neslida Kodra,Rebecca Miller,Beverly Nelson,Malgorzata J. Nowaczyk,Zuhair Rahbeeni,Shay Ben-Shachar,Joseph T. Shieh,Anne Slavotinek,Andrew K. Sobering,Mary-Alice Abbott,Dawn C. Allain,Louise Amlie-Wolf,Ping Yee Billie Au,Emma Bedoukian,Geoffrey Beek,James Barry,Janet Berg,Jonathan A. Bernstein,Cheryl Cytrynbaum,Brian Hon-Yin Chung,Sarah Donoghue,Naghmeh Dorrani,Alison Eaton,Josue A. Flores-Daboub,Holly Dubbs,Carolyn A. Felix,Chin-To Fong,Jasmine Lee Fong Fung,Balram Gangaram,Amy Goldstein,Rotem Greenberg,Thoa K. Ha,Joseph Hersh,Kosuke Izumi,Staci Kallish,Elijah Kravets,Pui-Yan Kwok,Rebekah K. Jobling,Amy E. Knight Johnson,Jessica Kushner,Bo Hoon Lee,Brooke Levin,Kristin Lindstrom,Kandamurugu Manickam,Rebecca Mardach,Elizabeth McCormick,D. Ross McLeod,Frank D. Mentch,Kelly Minks,Colleen Muraresku,Stanley F. Nelson,Patrizia Porazzi,Pavel N. Pichurin,Nina N. Powell-Hamilton,Zoe Powis,Alyssa Ritter,Caleb Rogers,Luis Rohena,Carey Ronspies,Audrey Schroeder,Zornitza Stark,Lois Starr,Joan Stoler,Pim Suwannarat,Milen Velinov,Rosanna Weksberg,Yael Wilnai,Neda Zadeh,Dina J. Zand,Marni J. Falk,Hakon Hakonarson,Elaine H. Zackai,Fabiola Quintero-Rivera
AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2022）
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Expanding the Genotypic and Phenotypic Spectrum in a Diverse Cohort of 104 Individuals with Wiedemann-Steiner Syndrome
Sarah Sheppard,Ian Campbell,Margaret Harr,Nina Gold,Dong Li,Hans Bjornsson,Julie Cohen,Jill Fahrner,Ali Fatemi,Jacqueline Harris,Catherine Nowak,Cathy Stevens,Katheryn Grand,Margaret Au,John Graham,Pedro Sanchez-Lara,Miguel Del Campo,Marilyn Jones,Omar Abdul-Rahman,Fowzan Alkuraya,Jennifer Bassetti,Katherine Bergstrom,Elizabeth Bhoj,Sarah Dugan,Julie Kaplan,Nada Derar,Karen W. Gripp,Natalie Hauser,Micheil Innes,Beth Keena,Neslida Kodra,Rebecca Miller,Beverly Nelson,Malgorzata Nowaczyk,Zuhair Rahbeeni,Shay Ben-Shachar,Joseph Shieh,Anne Slavotinek,Andrew Sobering,Mary-Alice Abbott,Dawn Allain,Louise Amlie-Wolf,Ping Yee Billie Au,Emma Bedoukian,Geoffrey Beek,James Barry,Janet Berg,Jonathan Bernstein,Cheryl Cytrynbaum,Brian Hon-Yin Chung,Sarah Donoghue,Naghmeh Dorrani,Alison Eaton,Josue Flores-Daboub,Holly Dubbs,Carolyn Felix,Chin-To Fong,Jasmine Lee-Fong Fung,Balram Gangaram,Amy Goldstein,Rotem Greenberg,Thoa Ha,Joseph Hersh,Kosuke Izumi,Staci Kallish,Elijah Kravets, Yan Kwok,Rebekah Jobling,Amy Knight-Johnson,Jessica Kushner,Bo Hoon Lee,Brooke Levin,Kristin Lindstrom,Kandamurugu Manickam,Rebecca Mardach,Elizabeth McCormick,D. Ross McLeod,Frank Mentch,Kelly Minks,Colleen Muraresku,Stanley Nelson,Patrizia Porazzi,Pavel Pichurin,Nina Powell-Hamilton,Zoe Powis,Alyssa Ritter,Caleb Rogers,Luis Rohena,Carey Ronspies,Audrey Schroeder,Zornitza Stark,Lois Starr,Joan Stoler,Pim Suwannarat,Milen Velinov,Rosanna Weksberg,Yael Wilnai,Neda Zadeh,Dina Zand,Marni Falk,Hakon Hakonarson,Elaine Zackai,Fabiola Quintero-Rivera
Molecular Genetics and Metabolism（2021）
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ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder
Raphaël Carapito,Ekaterina Ivanova, Aurore Morlon,Linyan Meng,Anne Molitor,Éva Erdmann, Bruno Kieffer, Angélique Pichot, Lydie Naegely, Aline Kolmer,Nicodème Paul,Antoine Hanauer,Frédéric Tran Mau‐Them,Nolwenn Jean‐Marçais,Susan M. Hiatt, Gregory M. Cooper,Tatiana Tvrdik,Alison M. Muir,Clémantine Dimartino, Maya Chopra,Jeanne Amiel, Christopher T. Gordon, Fabien Dutreux,Aurore Garde, Christel Thauvin‐Robinet,Xia Wang,Magalie S. Leduc, Meredith Phillips,Heather P. Crawford,Mary K. Kukolich,David Hunt,Victoria Harrison, Mira Kharbanda, Robert Śmigiel, Nina B. Gold,Christina Hung,David Viskochil,Sarah Dugan, Pınar Bayrak‐Toydemir,Géraldine Joly‐Hélas,Anne‐Marie Guerrot,Caroline Schluth‐Bolard, Marlène Rio,Ingrid M. Wentzensen,Kirsty McWalter,Rhonda E. Schnur,Andrea M. Lewis, Seema R. Lalani, Noël Mensah-Bonsu,Jocelyn Céraline, Zijie Sun, Rafał Płoski,Carlos A. Bacino,Heather C. Mefford,Laurence Faivre, Olaf A. Bodamer, Jamel Chelly,Bertrand Isidor,Seiamak Bahram
American journal of human geneticsno. 2 (2019): 319-330
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De Novo Loss-of-function Variants of ASH1L Are Associated with an Emergent Neurodevelopmental Disorder
Wei Shen, Patti Krautscheid, Audrey M. Rutz,Pinar Bayrak-Toydemir,Sarah L. Dugan
European journal of medical geneticsno. 1 (2019): 55-60
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Author Statistics

#Papers: 23

#Citation: 323

H-Index: 7

G-Index: 13

Sociability: 6

Diversity: 2

Activity: 11

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