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研究兴趣

论文共 49 篇作者统计合作学者相似作者

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P338: Far from Futile: the Value of Perimortem Rapid Exome
Cassandra Starks,Margaret Au
Genetics in Medicine Open (2024): 101232
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P421: Connecting Features in a Patient with Supernumerary Ring Chromosome 1
Margaret Au, Jason Tate, Cassandra Starks,Sainan Wei
Genetics in Medicine Open (2024): 101315
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Mechanism of KMT5B Haploinsufficiency in Neurodevelopment in Humans and Mice
Sarah E. Sheppard,Laura Bryant,Rochelle N. Wickramasekara,Courtney Vaccaro,Brynn Robertson,Jodi Hallgren,Jason Hulen,Cynthia J. Watson,Victor Faundes,Yannis Duffourd,Pearl Lee,M. Celeste Simon,Xavier de la Cruz,Natalia Padilla,Marco Flores-Mendez,Naiara Akizu,Jacqueline Smiler,Renata Pellegrino Da Silva,Dong Li,Michael March,Abdias Diaz-Rosado,Isabella Peixoto de Barcelos,Zhao Xiang Choa,Chin Yan Lim,Christele Dubourg,Hubert Journel,Florence Demurger,Maureen Mulhern,Cigdem Akman,Natalle Lippa,Marisa Andrews,Dustin Baldridge,John Constantino,Anita Rauch,Arie van Haeingen, Irina Snoeck-Streef,Penny Chow,Anne Hing,John M. Graham,Margaret Au,Laurence Falvre, Wel Shen,Rong Mao,Janice Palumbos,David Viskochil,William Gahl,Cynthia Tifft,Ellen Macnamara,Natalie Hauser,Rebecca Miller, Jessica Maffeo,Alexandra Afenjar,Diane Doummar,Boris Keren,Pamela Arn, Sarah Mackllin-Mantla,Ilse Meerschaut,Bert Callewaert, Andre Rels,Christiane Zweler,Carole Brewer,Anand Saggar,Marie F. Smeland,Ajith Kumar,Frances Elmslie,Charu Deshpande,Mathilde Nizon,Benjamin Cogne,Yvette van Ierland,Martina Wilke,Marjon van Slegtenhorst,Suzanne Koudijs,Jin Yun Chen,David Dredge, Danielle Pler,Saskia Wortmann,Erik-Jann Kamsteeg,Johannes Koch,Devon Haynes,Lynda Pollack,Hannah Titheradge,Kara Ranguin,Anne-Sophie Denomme-Pichon,Sacha Weber,Ruben Perez de la Fuente,Jaime Sanchez del Pozo,Jose Miguel Lezana Rosales,Pascal Joset,Katharina Steindl,Ani Rauch,Davide Mei,Francesco Mari,Renzo Guerrini,James Lespinasse,Frederic Tran Mau-Then,Christophe Philippe,Benjamin Dauriat,Laure Raymond,Sebastien Moutton,Anna M. Cueto-Gonzalez,Tiong Yang Tan,Cyril Mignot,Sarah Grotto,Florence Renaldo,Theodore G. Drivas,Laura Hennessy,Anna Raper,Ilaria Parenti,Frank J. Kaiser,Alma Kuechler,Oyvind L. Busk,Lily Islam,Jacob A. Siedlik,Lindsay B. Henderson,Jane Juusola,Richard Person,Rhonda E. Schnur,Antonio Vitobello,Siddharth Banka,Elizabeth J. Bhoj,Holly A. F. Stessman
SCIENCE ADVANCESno. 10 (2023)
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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）
引用0浏览0引用
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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）
引用28浏览0WOS引用
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作者统计

#Papers: 49

#Citation: 1436

H-Index: 19

G-Index: 29

Sociability: 7

Diversity: 2

Activity: 7

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