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论文共 9 篇作者统计合作学者相似作者

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Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor Β Signaling
Brett Johnson,Raman Kumar,Sabrina Oishi,Suzy Alexander,Maria Kasherman,Michelle Sanchez Vega,Atma Ivancevic,Alison Gardner,Deepti Domingo,Mark Corbett,Euan Parnell,Sehyoun Yoon,Tracey Oh,Matthew Lines,Henrietta Lefroy,Usha Kini,Margot Van Allen,Sabine Gronborg,Sandra Mercier,Sebastien Kury,Stephane Bezieau,Laurent Pasquier,Martine Raynaud,Alexandra Afenjar,Thierry Billette de Villemeur,Boris Keren,Julie Desir,Lionel Van Maldergem,Martina Marangoni,Nicola Dikow,David A. Koolen,Peter M. VanHasselt,Marjan Weiss,Petra Zwijnenburg,Joaquim Sa,Claudia Falcao Reis,Carlos Lopez-Otin,Olaya Santiago-Fernandez,Alberto Fernandez-Jaen,Anita Rauch,Katharina Steindl,Pascal Joset,Amy Goldstein,Suneeta Madan-Khetarpal,Elena Infante,Elaine Zackai,Carey Mcdougall,Vinodh Narayanan, Keri Ramsey,Saadet Mercimek-Andrews,Loren Pena,Vandana Shashi,Kelly Schoch,Jennifer A. Sullivan,Filippo Pinto E Vairo,Pavel N. Pichurin,Sarah A. Ewing,Sarah S. Barnett,Eric W. Klee,M. Scott Perry,Mary Kay Koenig,Catherine E. Keegan,Jane L. Schuette,Stephanie Asher,Yezmin Perilla-Young,Laurie D. Smith,Jill A. Rosenfeld,Elizabeth Bhoj,Paige Kaplan, Dong Li,Renske Oegema,Ellen van Binsbergen,Bert van der Zwaag,Marie Falkenberg Smeland,Ioana Cutcutache,Matthew Page,Martin Armstrong,Angela E. Lin,Marcie A. Steeves,Nicolette den Hollander,Mariette J. Hoffer,Margot R. F. Reijnders,Serwet Demirdas,Daniel C. Koboldt,Dennis Bartholomew,Theresa Mihalic Mosher,Scott E. Hickey,Christine Shieh,Pedro A. Sanchez-Lara,John M. Graham,Kamer Tezcan,G. B. Schaefer,Noelle R. Danylchuk,Alexander Asamoah,Kelly E. Jackson,Naomi Yachelevich,Margaret Au,Luis A. Perez-Jurado,Tjitske Kleefstra,Peter Penzes,Stephen A. Wood,Thomas Burne,Tyler Mark Pierson,Michael Piper,Jozef Gecz,Lachlan A. Jolly,Maria T. Acosta,David R. Adams,Aaron Aday, Mercedes E. Alejandro,Patrick Allard, Euan A. Ashley,Mahshid S. Azamian,Carlos A. Bacino,Guney Bademci,Eva Baker,Ashok Balasubramanyam,Dustin Baldridge,Deborah Barbouth,Gabriel F. Batzli,Alan H. Beggs, Hugo J. Bellen, Jonathan A. Bernstein, Gerard T. Berry,Anna Bican,David P. Bick,Camille L. Birch,Stephanie Bivona,Carsten Bonnenmann,Devon Bonner,Braden E. Boone,Bret L. Bostwick,Lauren C. Briere,Elly Brokamp,Donna M. Brown,Matthew Brush,Elizabeth A. Burke,Lindsay C. Burrage,Manish J. Butte,Olveen Carrasquillo,Ta Chen Peter Chang,Hsiao-Tuan Chao,Gary D. Clark, Terra R. Coakley,Laurel A. Cobban,Joy D. Cogan, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper,Heidi Cope, William J. Craigen,Precilla D'Souza,Surendra Dasari,Mariska Davids,Jean M. Davidson,Jyoti G. Dayal, Esteban C. Dell'Angelica,Shweta U. Dhar, Naghmeh Dorrani,Daniel C. Dorset,Emilie D. Douine,David D. Draper,Annika M. Dries,Laura Duncan, David J. Eckstein,Lisa T. Emrick,Christine M. Eng,Gregory M. Enns,Cecilia Esteves,Tyra Estwick,Liliana Fernandez,Carlos Ferreira,Elizabeth L. Fieg,Paul G. Fisher, Brent L. Fogel,Irman Forghani,Noah D. Friedman, William A. Gahl,Rena A. Godfrey,Alica M. Goldman, David B. Goldstein,Jean-Philippe F. Gourdine,Alana Grajewski,Catherine A. Groden,Andrea L. Gropman,Melissa Haendel,Rizwan Hamid,Neil A. Hanchard,Frances High,Ingrid A. Holm,Jason Hom,Alden Huang, Yong Huang,Rosario Isasi,Fariha Jamal, Yong-hui Jiang,Jean M. Johnston,Angela L. Jones,Lefkothea Karaviti,Emily G. Kelley,David M. Koeller, Isaac S. Kohane,Jennefer N. Kohler, Deborah Krakow,Donna M. Krasnewich,Susan Korrick,Mary Koziura,Joel B. Krier,Jennifer E. Kyle,Seema R. Lalani,Byron Lam,Brendan C. Lanpher, Ian R. Lanza,C. Christopher Lau,Jozef Lazar,Kimberly LeBlanc,Brendan H. Lee,Hane Lee,Roy Levitt,Shawn E. Levy,Richard A. Lewis,Sharyn A. Lincoln, Pengfei Liu,Xue Zhong Liu, Sandra K. Loo,Joseph Loscalzo, Richard L. Maas,Ellen F. Macnamara,Calum A. MacRae,Valerie V. Maduro,Marta M. Majcherska,May Christine Malicdan,Laura A. Mamounas,Teri A. Manolio,Thomas C. Markello,Ronit Marom,Martin G. Martin, Julian A. Martinez-Agosto,Shruti Marwaha,Thomas May,Jacob McCauley,Allyn McConkie-Rosell,Colleen E. McCormack,Alexa T. McCray, Jason D. Merker,Thomas O. Metz,Matthew Might,Eva Morava-Kozicz,Paolo M. Moretti,Marie Morimoto,John J. Mulvihill, David R. Murdock,Avi Nath,Stan F. Nelson,J. Scott Newberry,John H. Newman,Sarah K. Nicholas,Donna Novacic,Devin Oglesbee,James P. Orengo,Stephen Pak,J. Carl Pallais,Christina G. S. Palmer,Jeanette C. Papp,Neil H. Parker,John A. Phillips,Jennifer E. Posey, John H. Postlethwait, Lorraine Potocki,Barbara N. Pusey, Genecee Renteri,Chloe M. Reuter,Lynette Rives,Amy K. Robertson,Lance H. Rodan,Robb K. Rowley, Ralph Sacco,Jacinda B. Sampson,Susan L. Samson,Mario Saporta, Judy Schaechter,Timothy Schedl,Daryl A. Scott,Lisa Shakachite,Prashant Sharma,Kathleen Shields,Jimann Shin,Rebecca Signer,Catherine H. Sillari, Edwin K. Silverman,Janet S. Sinsheimer,Kevin S. Smith,Lilianna Solnica-Krezel,Rebecca C. Spillmann, Joan M. Stoler,Nicholas Stong,David A. Sweetser,Cecelia P. Tamburro,Queenie K-G Tan,Mustafa Tekin,Fred Telischi,Willa Thorson,Cynthia J. Tifft,Camilo Toro,Alyssa A. Tran,Tiina K. Urv,Tiphanie P. Vogel,Daryl M. Waggott,Colleen E. Wahl,Nicole M. Walley, Chris A. Walsh,Melissa Walker,Jennifer Wambach,Jijun Wan,Lee-kai Wang,Michael F. Wangler,Patricia A. Ward,Katrina M. Waters, M. Bobbie-Jo, Webb-Robertson,Daniel Wegner, Monte Wester Field,Matthew T. Wheeler,Anastasia L. Wise,Lynne A. Wolfe,Jeremy D. Woods,Elizabeth A. Worthey, Shinya Yamamoto,John Yang,Amanda J. Yoon,Guoyun Yu,Diane B. Zastrow, Chunli Zhao,Stephan Zuchner
Biological psychiatry（2020）
引用40浏览0WOS引用
40
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Kilquist Syndrome: A Novel Syndromic Hearing Loss Disorder Caused by Homozygous Deletion of SLC12A2
Ellen F. Macnamara,Alanna E. Koehler,Precilla D'Souza,Tyra Estwick,Paul Lee,Gilbert Vezina,Harper Fauni,Stephen R. Braddock,Erin Torti,James Matthew Holt,Prashant Sharma,May Christine Malicdan,Cynthia J. Tifft,Maria T. Acosta,David R. Adams,Aaron Aday, Mercedes E. Alejandro,Patrick Allard, Euan A. Ashley,Mahshid S. Azamian,Carlos A. Bacino,Guney Bademci,Eva Baker,Ashok Balasubramanyam,Dustin Baldridge,Deborah Barbouth,Gabriel F. Batzli,Alan H. Beggs, Hugo J. Bellen, Jonathan A. Bernstein, Gerard T. Berry,Anna Bican,David P. Bick,Camille L. Birch,Stephanie Bivona,Carsten Bonnenmann,Devon Bonner,Braden E. Boone,Bret L. Bostwick,Lauren C. Briere,Elly Brokamp,Donna M. Brown,Matthew Brush,Elizabeth A. Burke,Lindsay C. Burrage,Manish J. Butte,Olveen Carrasquillo, Ta Chen Peter Chang,Hsiao-Tuan Chao,Gary D. Clark, Terra R. Coakley,Laurel A. Cobban,Joy D. Cogan, F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper,Heidi Cope, William J. Craigen,Surendra Dasari,Mariska Davids,Jean M. Davidson,Jyoti G. Dayal, Esteban C. Dell'Angelica,Shweta U. Dhar, Naghmeh Dorrani,Daniel C. Dorset,Emilie D. Douine,David D. Draper, Annika M. DriesLaura Duncan, David J. Eckstein,Lisa T. Emrick,Christine M. Eng,Gregory M. Enns,Cecilia Esteves,Liliana Fernandez,Carlos Ferreira,Elizabeth L. Fieg,Paul G. Fisher, Brent L. Fogel,Irman Forghani,Noah D. Friedman, William A. Gahl,Rena A. Godfrey,Alica M. Goldman, David B. Goldstein,Jean-Philippe F. Gourdine,Alana Grajewski,Catherine A. Groden,Andrea L. Gropman,Melissa Haendel,Rizwan Hamid,Neil A. Hanchard,Frances High,Ingrid A. Holm,Jason Hom,Alden Huang, Yong Huang,Rosario Isasi,Fariha Jamal, Yong-hui Jiang,Jean M. Johnston,Angela L. Jones,Lefkothea Karaviti,Emily G. Kelley,David M. Koeller, Isaac S. Kohane,Jennefer N. Kohler,Deborah Krakow,Donna M. Krasnewich,Susan Korrick,Mary Koziura,Joel B. Krier,Jennifer E. Kyle,Seema R. Lalani,Byron Lam,Brendan C. Lanpher, Ian R. Lanza,C. Christopher Lau,Jozef Lazar,Kimberly LeBlanc, Brendan H. Lee,Hane Lee,Roy Levitt,Shawn E. Levy,Richard A. Lewis,Sharyn A. Lincoln, Pengfei Liu, Xue, Zhong Liu, Sandra K. Loo,Joseph Loscalzo, Richard L. Maas,Calum A. MacRae,Valerie V. Maduro,Marta M. Majcherska,Laura A. Mamounas,Teri A. Manolio,Thomas C. Markello,Ronit Marom,Martin G. Martin, Julian A. Martinez-Agosto,Shruti Marwaha,Thomas May,Jacob McCauley,Allyn McConkie-Rosell,Colleen E. McCormack,Alexa T. McCray, Jason D. Merker,Thomas O. Metz,Matthew Might,Eva Morava-Kozicz,Paolo M. Moretti,Marie Morimoto,John J. Mulvihill, David R. Murdock,Avi Nath,Stan F. Nelson,J. Scott Newberry,John H. Newman,Sarah K. Nicholas,Donna Novacic,Devin Oglesbee,James P. Orengo,Stephen Pak,J. Carl Pallais,Christina G. S. Palmer,Jeanette C. Papp,Neil H. Parker,Loren Dm Pena,John A. Phillips,Jennifer E. Posey, John H. Postlethwait, Lorraine Potocki,Barbara N. Pusey,Genecee Renteria,Chloe M. Reuter,Lynette Rives,Amy K. Robertson,Lance H. Rodan,Jill A. Rosenfeld,Robb K. Rowley, Ralph Sacco,Jacinda B. Sampson,Susan L. Samson,Mario Saporta, Judy Schaechter,Timothy Schedl,Kelly Schoch,Daryl A. Scott,Lisa Shakachite,Vandana Shashi,Kathleen Shields,Jimann Shin,Rebecca Signer,Catherine H. Sillari, Edwin K. Silverman,Janet S. Sinsheimer,Kevin S. Smith,Lilianna Solnica-Krezel,Rebecca C. Spillmann, Joan M. Stoler,Nicholas Stong,Jennifer A. Sullivan,David A. Sweetser,Cecelia P. Tamburro,Queenie K-G Tan,Mustafa Tekin,Fred Telischi,Willa Thorson,Camilo Toro,Alyssa A. Tran,Tiina K. Urv,Tiphanie P. Vogel,Daryl M. Waggott,Colleen E. Wahl,Nicole M. Walley, Chris A. Walsh,Melissa Walker,Jennifer Wambach,Jijun Wan,Lee-kai Wang,Michael F. Wangler,Patricia A. Ward,Katrina M. Waters,Bobbie-Jo M. Webb-Robertson,Daniel Wegner,Monte Westerfield,Matthew T. Wheeler,Anastasia L. Wise,Lynne A. Wolfe,Jeremy D. Woods,Elizabeth A. Worthey,Shinya Yamamoto,John Yang,Amanda J. Yoon,Guoyun Yu,Diane B. Zastrow, Chunli Zhao,Stephan Zuchner
Human mutation（2019）
引用37浏览0WOS引用
37
0
Heterozygous Variants in MYBPC1 Are Associated with an Expanded Neuromuscular Phenotype Beyond Arthrogryposis
Vandana Shashi,Janelle Geist,Youngha Lee,Yongjin Yoo,Unbeom Shin,Kelly Schoch,Jennifer Sullivan,Nicholas Stong,Edward Smith,Joan Jasien,Peter Kranz,Yoonsung Lee,Yong Beom Shin,Nathan T. Wright,Murim Choi,Aikaterini Kontrogianni-Konstantopoulos,Maria T. Acosta,David R. Adams,Aaron Aday,Mercedes E. Alejandro,Patrick Allard,Euan A. Ashley,Mahshid S. Azamian,Carlos A. Bacino,Guney Bademci,Eva Baker,Ashok Balasubramanyam,Dustin Baldridge,Deborah Barbouth,Gabriel F. Batzli,Alan H. Beggs,Hugo J. Bellen,Jonathan A. Bernstein,Gerard T. Berry,Anna Bican,David P. Bick,Camille L. Birch,Stephanie Bivona,Carsten Bonnenmann,Devon Bonner,Braden E. Boone,Bret L. Bostwick,Lauren C. Briere,Elly Brokamp,DonnaM Brown,Matthew Brush,Elizabeth A. Burke,Lindsay C. Burrage,Manish J. Butte,Olveen Carrasquillo, Ta Chen Peter Chang,Hsiao-Tuan Chao,Gary D. Clark, Terra R. Coakley,Laurel A. Cobban,Joy D. Cogan,F. Sessions Cole, Heather A. Colley, Cynthia M. Cooper,Heidi Cope,William J. Craigen,Precilla D'Souza,Surendra Dasari,Mariska Davids,Jean M. Davidson,Jyoti G. Dayal,Esteban C. Dell'Angelica,Shweta U. Dhar,Naghmeh Dorrani,Daniel C. Dorset,Emilie D. Douine,David D. Draper,Annika M. Dries,Laura Duncan, David J. Eckstein,Lisa T. Emrick,Christine M. Eng,Gregory M. Enns,Cecilia Esteves,Tyra Estwick,Liliana Fernandez,Carlos Ferreira,Elizabeth L. Fieg,Paul G. Fisher,Brent L. Fogel,Irman Forghani,Noah D. Friedman,William A. Gahl,Rena A. Godfrey,Alica M. Goldman,David B. Goldstein,Jean-Philippe F. Gourdine,Alana Grajewski,Catherine A. Groden,Andrea L. Gropman,Melissa Haendel,Rizwan Hamid,Neil A. Hanchard,Frances High,Ingrid A. Holm,Jason Hom,Alden Huang,Yong Huang,Rosario Isasi,Fariha Jamal,Yong-hui Jiang,Jean M. Johnston,Angela L. Jones,Lefkothea Karaviti,Emily G. Kelley,David M. Koeller,Isaac S. Kohane,Jennefer N. Kohler,Deborah Krakow,Donna M. Krasnewich,Susan Korrick,Mary Koziura,Joel B. Krier,Jennifer E. Kyle,Seema R. Lalani,Byron Lam,Brendan C. Lanpher,Ian R. Lanza,C. Christopher Lau,Jozef Lazar,Kimberly LeBlanc,Brendan H. Lee,Hane Lee,Roy Levitt,Shawn E. Levy,Richard A. Lewis,Sharyn A. Lincoln,Pengfei Liu,Xue Zhong Liu,Sandra K. Loo,Joseph Loscalzo,Richard L. Maas,Ellen F. Macnamara,Calum A. MacRae,Valerie V. Maduro,Marta M. Majcherska,May Christine Malicdan,Laura A. Mamounas,Teri A. Manolio,Thomas C. Markello,Ronit Marom,Martin G. Martin,Julian A. Martinez-Agosto,Shruti Marwaha,Thomas May,Jacob McCauley,Allyn McConkie-Rosell,Colleen E. McCormack,Alexa T. McCray,Jason D. Merker,Thomas O. Metz,Matthew Might,Eva Morava-Kozicz,Paolo M. Moretti,Marie Morimoto,John J. Mulvihill,David R. Murdock,Avi Nath,Stan F. Nelson,J. Scott Newberry,John H. Newman,Sarah K. Nicholas,Donna Novacic,Devin Oglesbee,James P. Orengo,Stephen Pak,J. Carl Pallais,Christina G. S. Palmer,Jeanette C. Papp,Neil H. Parker,Loren D. M. Pena,John A. Phillips,Jennifer E. Posey,John H. Postlethwait,Lorraine Potocki,Barbara N. Pusey,Genecee Renteria,Chloe M. Reuter,Lynette Rives,Amy K. Robertson,Lance H. Rodan,Jill A. Rosenfeld,Robb K. Rowley, Ralph Sacco,Jacinda B. Sampson,Susan L. Samson,Mario Saporta, Judy Schaechter,Timothy Schedl,Daryl A. Scott,Lisa Shakachite,Prashant Sharma,Kathleen Shields,Jimann Shin,Rebecca Signer,Catherine H. Sillari,Edwin K. Silverman,Janet S. Sinsheimer,Kevin S. Smith,Lilianna Solnica-Krezel,Rebecca C. Spillmann,Joan M. Stoler,Jennifer A. Sullivan,David A. Sweetser,Cecelia P. Tamburro,Queenie K-G Tan,Mustafa Tekin,Fred Telischi,Willa Thorson,Cynthia J. Tifft,Camilo Toro,Alyssa A. Tran,Tiina K. Urv,Tiphanie P. Vogel,Daryl M. Waggott,Colleen E. Wahl,Nicole M. Walley, Chris A. Walsh,Melissa Walker,Jennifer Wambach,Jijun Wan,Lee-kai Wang,Michael F. Wangler,Patricia A. Ward,Katrina M. Waters,Bobbie-Jo M. Webb-Robertson,Daniel Wegner,Monte Westerfield,Matthew T. Wheeler,Anastasia L. Wise,Lynne A. Wolfe,Jeremy D. Woods,Elizabeth A. Worthey,Shinya Yamamoto,John Yang,Amanda J. Yoon,Guoyun Yu,Diane B. Zastrow,Chunli Zhao,Stephan Zuchner
Human mutation（2019）
引用15浏览0WOS引用
15
0
作者统计

#Papers: 11

#Citation: 284

H-Index: 8

G-Index: 9

Sociability: 6

Diversity: 2

Activity: 6

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