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Papers共 97 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）
Cited0Views0Bibtex
0
0
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）
Cited31Views0WOSBibtex
31
0
Truncating SRCAP Variants Outside the Floating-Harbor Syndrome Locus Cause a Distinct Neurodevelopmental Disorder with a Specific DNA Methylation Signature
Dmitrijs Rots,Eric Chater-Diehl,Alexander J. M. Dingemans,Sarah J. Goodman,Michelle T. Siu,Cheryl Cytrynbaum,Sanaa Choufani,Ny Hoang,Susan Walker,Zain Awamleh,Joshua Charkow,Stephen Meyn,Rolph Pfundt,Tuula Rinne,Thatjana Gardeitchik,Bert B. A. de Vries,A. Chantal Deden,Erika Leenders,Michael Kwint,Constance T. R. M. Stumpel,Servi J. C. Stevens,Jeroen R. Vermeulen, Jeske V. T. van Harssel,Danielle G. M. Bosch,Koen L. van Gassen,Ellen van Binsbergen,Christa M. de Geus,Hein Brackel,Maja Hempel,Davor Lessel,Jonas Denecke,Anne Slavotinek,Jonathan Strober,Amy Crunk,Leandra Folk,Ingrid M. Wentzensen,Hui Yang,Fanggeng Zou,Francisca Millan,Richard Person,Yili Xie,Shuxi Liu,Lilian B. Ousager,Martin Larsen,Laura Schultz-Rogers,Eva Morava,Eric W. Klee,Ian R. Berry, Jennifer Campbell,Kristin Lindstrom,Brianna Pruniski,Ann M. Neumeyer,Jessica A. Radley,Chanika Phornphutkul,Berkley Schmidt,William G. Wilson,Katrin Ounap,Karit Reinson,Sander Pajusalu,Arie van Haeringen,Claudia Ruivenkamp,Roos Cuperus,Fernando Santos-Simarro,Maria Palomares-Bralo,Marta Pacio-Miguez,Alyssa Ritter,Elizabeth Bhoj,Elin Tonne,Kristian Tveten,Gerarda Cappuccio,Nicola Brunetti-Pierri, Leah Rowe,Jason Bunn,Margarita Saenz,Konrad Platzer,Mareike Mertens,Oana Caluseriu,Malgorzata J. M. Nowaczyk,Ronald D. Cohn,Peter Kannu,Ebba Alkhunaizi,David Chitayat,Stephen W. Scherer,Han G. Brunner,Lisenka E. L. M. Vissers,Tjitske Kleefstra,David A. Koolen,Rosanna Weksberg
The American Journal of Human Genetics（2021）
Cited47Views0WOSBibtex
47
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Author Statistics

#Papers: 97

#Citation: 4360

H-Index: 33

G-Index: 65

Sociability: 7

Diversity: 3

Activity: 8

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