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Papers共 53 篇Author StatisticsCo-AuthorSimilar Experts

By YearBy Citation主题筛选期刊级别筛选合作者筛选合作机构筛选
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Genome-based Newborn Screening for Severe Childhood Genetic Diseases Has High Positive Predictive Value and Sensitivity in a NICU Pilot Trial
Stephen F. Kingsmore,Meredith Wright, Lauren Olsen, Brandan Schultz, Liana Protopsaltis, Dan Averbuj, Eric Blincow,Jeanne Carroll,Sara Caylor,Thomas Defay,Katarzyna Ellsworth,Annette Feigenbaum, Mia Gover,Lucia Guidugli,Christian Hansen, Lucita Van Der Kraan,Chris M. Kunard, Hugh Kwon, Lakshminarasimha Madhavrao, Jeremy Leipzig, Yupu Liang,Rebecca Mardach, William R. Mowrey, Hung Nguyen, Anna-Kaisa Niemi, Danny Oh, Muhammed Saad,Gunter Scharer,Jennifer Schleit, Shyamal S. Mehtalia,Erica Sanford,Laurie D. Smith, Mary J. Willis,Kristen Wigby, Rebecca Reimers
AMERICAN JOURNAL OF HUMAN GENETICSno. 12 (2024)
Cited0Views0WOSBibtex
0
0
Spliceosome Malfunction Causes Neurodevelopmental Disorders with Overlapping Features
Dong Li,Qin Wang,Allan Bayat,Mark R. Battig,Yijing Zhou,Danielle G. M. Bosch,Gijs van Haaften,Leslie Granger,Andrea K. Petersen,Luis A. Perez-Jurado,Gemma Aznar-Lain, Anushree Aneja,Miroslava Hancarova,Sarka Bendova,Martin Schwarz,Radka Kremlikova Pourova,Zdenek Sedlacek,Beth A. Keena,Michael E. March,Cuiping Hou,Nora O'Connor,Elizabeth J. Bhoj,Margaret H. Harr,Gabrielle Lemire,Kym M. Boycott,Meghan Towne,Megan Li,Mark Tarnopolsky,Lauren Brady,Michael J. Parker,Hanna Faghfoury, Lea Kristin Parsley,Emanuele Agolini,Maria Lisa Dentici,Antonio Novelli,Meredith Wright,Rachel Palmquist,Khanh Lai,Marcello Scala,Pasquale Striano,Michele Iacomino,Federico Zara, Annina Cooper,Timothy J. Maarup,Melissa Byler,Robert Roger Lebel,Tugce B. Balci,Raymond Louie,Michael Lyons,Jessica Douglas,Catherine Nowak,Alexandra Afenjar,Juliane Hoyer,Boris Keren,Saskia M. Maas,Mahdi M. Motazacker,Julian A. Martinez-Agosto,Ahna M. Rabani,Elizabeth M. McCormick,Marni J. Falk,Sarah M. Ruggiero,Ingo Helbig,Rikke S. Moller,Lino Tessarollo,Francesco Tomassoni Ardori,Mary Ellen Palko,Tzung-Chien Hsieh,Peter M. Krawitz,Mythily Ganapathi,Bruce D. Gelb,Vaidehi Jobanputra,Ashley Wilson,John Greally,Sebastien Jacquemont,Khadije Jizi,Ange-Line Bruel,Chloe Quelin,Vinod K. Misra, Erika Chick,Corrado Romano,Donatella Greco, Alessia Arena,Manuela Morleo,Vincenzo Nigro,Rie Seyama,Yuri Uchiyama,Naomichi Matsumoto,Ryoji Taira,Katsuya Tashiro,Yasunari Sakai,Gokhan Yigit,Bernd Wollnik,Michael Wagner, Barbara Kutsche,Anna C. E. Hurst,Michelle L. Thompson,Ryan Schmidt,Linda Randolph,Rebecca C. Spillmann,Vandana Shashi,Edward J. Higginbotham,Dawn Cordeiro,Amanda Carnevale,Gregory Costain,Tayyaba Khan,Benoit Funalot,Frederic Tran Mau-Them, Luis Fernandez Garcia Moya,Sixto Garcia-Minaur, Matthew Osmond,Lauren Chad,Nada Quercia, Diana Carrasco,Chumei Li,Amarilis Sanchez-Valle,Meghan Kelley,Mathilde Nizon,Brynjar O. Jensson,Patrick Sulem,Kari Stefansson,Svetlana Gorokhova,Tiffany Busa,Marlene Rio, Hamza Hadj Habdallah,Marion Lesieur-Sebellin,Jeanne Amiel,Veronique Pingault,Sandra Mercier,Marie Vincent,Christophe Philippe, Clemence Fatus-Fauconnier,Kathryn Friend, Rebecca K. Halligan, Sunita Biswas, Jane Rosser,Cheryl Shoubridge,Mark Corbett,Christopher Barnett,Jozef Gecz,Kathleen Leppig,Anne Slavotinek,Carlo Marcelis,Rolph Pfundt,Bert B. A. de Vries,Marjon A. van Slegtenhorst,Alice S. Brooks,Benjamin Cogne, Thomas Rambaud,Zeynep Tumer,Elaine H. Zackai,Naiara Akizu,Yuanquan Song,Hakon Hakonarson
The Journal of clinical investigationno. 1 (2024)
Cited3Views0WOSBibtex
3
0
Prequalification of Genome-Based Newborn Screening for Severe Childhood Genetic Diseases Through Federated Training Based on Purifying Hyperselection
Stephen F. Kingsmore,Meredith Wright, Laurie D. Smith, Yupu Liang, William R. Mowrey, Liana Protopsaltis,Matthew Bainbridge, Mei Baker,Sergey Batalov, Eric Blincow, Bryant Cao,Sara Caylor,Christina Chambers,Katarzyna Ellsworth,Annette Feigenbaum,Erwin Frise,Lucia Guidugli,Kevin P. Hall,Christian Hansen,Mark Kiel, Lucita van der Kraan, Chad Krilow, Hugh Kwon, Lakshminarasimha Madhavrao,Sebastien Lefebvre, Jeremy Leipzig,Rebecca Mardach,Barry Moore, Danny Oh, Lauren Olsen, Eric Ontiveros,Mallory J. Owen, Rebecca Reimers,Gunter Scharer,Jennifer Schleit, Seth Shelnutt, Shyamal S. Mehtalia,Albert Oriol,Erica Sanford,Steve Schwartz,Kristen Wigby, Mary J. Willis,Mark Yandell,Chris M. Kunard,Thomas Defay
AMERICAN JOURNAL OF HUMAN GENETICSno. 12 (2024)
Cited0Views0WOSBibtex
0
0
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Author Statistics

#Papers: 53

#Citation: 3424

H-Index: 24

G-Index: 42

Sociability: 7

Diversity: 3

Activity: 31

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