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论文共 53 篇作者统计合作学者相似作者

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De Novo Variants in the RNU4-2 Snrna Cause a Frequent Neurodevelopmental Syndrome
Yuyang Chen,Ruebena Dawes,Hyung Chul Kim,Alicia Ljungdahl,Sarah L Stenton,Susan Walker,Jenny Lord,Gabrielle Lemire, Alexandra C Martin-Geary,Vijay S Ganesh, Jialan Ma,Jamie M Ellingford,Erwan Delage,Elston N D'Souza,Shan Dong,David R Adams, Kirsten Allan,Madhura Bakshi, Erin E Baldwin,Seth I Berger,Jonathan A Bernstein, Ishita Bhatnagar, Ed Blair,Natasha J Brown,Lindsay C Burrage,Kimberly Chapman,David J Coman,Alison G Compton, Chloe A Cunningham,Precilla D'Souza, Petr Danecek,Emmanuèle C Délot, Kerith-Rae Dias,Ellen R Elias,Frances Elmslie,Care-Anne Evans,Lisa Ewans,Kimberly Ezell,Jamie L Fraser,Lyndon Gallacher,Casie A Genetti,Anne Goriely,Christina L Grant,Tobias Haack, Jenny E Higgs,Anjali G Hinch,Matthew E Hurles,Alma Kuechler, Katherine L Lachlan,Seema R Lalani, François Lecoquierre,Elsa Leitão,Anna Le Fevre,Richard J Leventer,Jan E Liebelt,Sarah Lindsay,Paul J Lockhart,Alan S Ma,Ellen F Macnamara, Sahar Mansour,Taylor M Maurer,Hector R Mendez, Kay Metcalfe,Stephen B Montgomery, Mariya Moosajee,Marie-Cécile Nassogne,Serena Neumann, Michael O'Donoghue,Melanie O'Leary,Elizabeth E Palmer, Nikhil Pattani,John Phillips,Georgia Pitsava, Ryan Pysar,Heidi L Rehm,Chloe M Reuter,Nicole Revencu,Angelika Riess,Rocio Rius,Lance Rodan,Tony Roscioli,Jill A Rosenfeld,Rani Sachdev, Charles J Shaw-Smith,Cas Simons,Sanjay M Sisodiya,Penny Snell, Laura St Clair,Zornitza Stark, Helen S Stewart,Tiong Yang Tan,Natalie B Tan,Suzanna E L Temple,David R Thorburn,Cynthia J Tifft,Eloise Uebergang,Grace E VanNoy, Pradeep Vasudevan,Eric Vilain,David H Viskochil,Laura Wedd,Matthew T Wheeler,Susan M White,Monica Wojcik,Lynne A Wolfe,Zoe Wolfenson,Caroline F Wright,Changrui Xiao,David Zocche,John L Rubenstein,Eirene Markenscoff-Papadimitriou,Sebastian M Fica,Diana Baralle,Christel Depienne,Daniel G MacArthur, M,Stephan J Sanders,Anne O'Donnell-Luria,Nicola Whiffin
Natureno. 8026 (2024): 832-840
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ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy
Sophie Hespe, Amber Waddell, Babken Asatryan, Emma Owens,Courtney Thaxton, Mhy-Lanie Adduru, Kailyn Anderson,Emily E Brown, Lily Hoffman-Andrews, Elizabeth Jordan,Katherine Josephs, Megan Mayers,Stacey Peters,Fergus Stafford,Richard D Bagnall,Lucas Bronicki,Bert Callewaert, C Anwar A Chahal,Cynthia A James,Olga Jarinova,Andrew P Landstrom,Elizabeth M McNally,Brittney Murray, Laura Muiño-Mosquera,Victoria Parikh,Chloe Reuter,Roddy Walsh, Bess Wayburn, James S Ware,Jodie Ingles
medRxiv : the preprint server for health sciences (2024)
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Loss of Function of FAM177A1, a Golgi Complex Localized Protein, Causes a Novel Neurodevelopmental Disorder
Jennefer N. Kohler,Nicole R. Legro,Dustin Baldridge,Jimann Shin, Angela Bowman,Berrak Ugur,Madelyn M. Jackstadt,Leah P. Shriver,Gary J. Patti, Bo Zhang, Wenjia Feng,Anthony R. McAdow,Page Goddard,Rachel A. Ungar,Tanner Jensen,Kevin S. Smith,Laure Fresard, Raquel Alvarez,Devon Bonner,Chloe M. Reuter, Colleen McCormack, Elijah Kravets, Shruti Marwaha, James M. Holt, Elizabeth A. Worthey, Euan A. Ashley, Stephen B. Montgomery, Paul G. Fisher, John Postlethwait, Pietro De Camilli, Lila Solnica-Krezel, Jonathan A. Bernstein, Matthew T. Wheeler
GENETICS IN MEDICINEno. 9 (2024)
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The Current Landscape of Clinical Exome and Genome Reanalysis in the U.S
Michelle Frees, Jennefer N Carter,Matthew T Wheeler,Chloe Reuter
Journal of genetic counseling (2024)
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作者统计

#Papers: 53

#Citation: 1031

H-Index: 13

G-Index: 32

Sociability: 7

Diversity: 0

Activity: 1

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