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论文共 915 篇作者统计合作学者相似作者

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P741: Recurrent 2q11.2 Deletions and Duplications: A Look at Segregation, Clinical Presentation, and Additional Genetic Testing
Elizabeth A. Fanning, Sara Reichert,Brooke Weckselblatt, Matthew Dulik, Minjie Luo,Yavuz Bayram, Holly Dubbs,Elaine Zackai, Nancy Spinner, Laura Conlin
Genetics in Medicine Open (2025): 103110
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P452: Male Non-Lethal FLNA Phenotypes: Medical and Counseling Challenges
Yanli Wang, Renee Wright,Livija Medne,Beth Keena,Elaine Zackai, Cara Skraban,Francis Jeshira Reynoso Santos
Genetics in Medicine Open (2025): 103319
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P075: A Case of Neuromyelitis Optica Spectrum Disorder in ARCN1-related Congenital Disorder of Glycosylation: A Rare Autoimmune Phenotype
Michelle McCrone, Alyssa Rippert,Sona Narula,Elaine Zackai, Andrew Edmondson
Genetics in Medicine Open (2025): 102919
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P860: Prenatally Diagnosed Beare-Stevenson Cutis Gyrata Syndrome with a Novel Variant
Haley Crane, Rose Giardine,Lisa Pilchman, Renee Wright, Kathleen Gianforcaro, Gabrielle Eisenberg,Alanna Strong,K. Taylor Wild,Elaine Zackai, Lorraine Dugoff, Teresa Sparks,Beverly Coleman,Julie Moldenhauer
Genetics in Medicine Open (2025): 103229
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Pathogenic Variants in KMT2C Result in a Neurodevelopmental Disorder Distinct from Kleefstra and Kabuki Syndromes
Dmitrijs Rots,Sanaa Choufani,Victor Faundes,Alexander J. M. Dingemans,Shelagh Joss,Nicola Foulds,Elizabeth A. Jones, Sarah Stewart,Pradeep Vasudevan,Tabib Dabir,Soo-Mi Park,Rosalyn Jewell,Natasha Brown,Lynn Pais,Sebastien Jacquemont,Khadije Jizi,Conny M. A. van Ravenswaaij-Arts,Hester Y. Kroes,Constance T. R. M. Stumpel,Charlotte W. Ockeloen,Illja J. Diets,Mathilde Nizon,Marie Vincent,Benjamin Cogne,Thomas Besnard, Marios Kambouris,Emily Anderson,Elaine H. Zackai,Carey McDougall,Sarah Donoghue,Anne O'Donnell-Luria,Zaheer Valivullah,Melanie O'Leary,Siddharth Srivastava,Heather Byers,Nancy Leslie,Sarah Mazzola,George E. Tiller, Moin Vera,Joseph J. Shen, Richard Boles,Vani Jain,Elise Brischoux-Boucher,Esther Kinning,Brittany N. Simpson,Jacques C. Giltay,Jacqueline Harris,Boris Keren,Anne Guimier, Pierre Marijon,Bert B. A. de Vries,Constance S. Motter,Bryce A. Mendelsohn, Samantha Coffino,Erica H. Gerkes,Alexandra Afenjar,Paola Visconti,Elena Bacchelli,Elena Maestrini,Andree Delahaye-Duriez,Catherine Gooch,Yvonne Hendriks, Hieab Adams,Christel Thauvin-Robinet,Sarah Josephi-Taylor,Marta Bertoli,Michael J. Parker,Julie W. Rutten,Oana Caluseriu,Hilary J. Vernon, Jonah Kaziyev,Jia Zhu,Jessica Kremen,Zoe Frazier, Hailey Osika,David Breault,Sreelata Nair, Suzanne M. E. Lewis,Fabiola Ceroni,Marta Viggiano,Annio Posar,Helen Brittain,Traficante Giovanna,Gori Giulia,Lina Quteineh, Russia Ha-Vinh Leuchter,Evelien Zonneveld-Huijssoon,Cecilia Mellado,Isabelle Marey, Alicia Coudert, Mariana Ines Aracena Alvarez, Milou G. P. Kennis,Arianne Bouman,Maian Roifman, Maria Inmaculada Amoros Rodriguez,Juan Dario Ortigoza-Escobar,Vivian Vernimmen,Margje Sinnema,Rolph Pfundt,Han G. Brunner,Lisenka E. L. M. Vissers,Tjitske Kleefstra,Rosanna Weksberg,Siddharth Banka
AMERICAN JOURNAL OF HUMAN GENETICS（2024）
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作者统计

#Papers: 915

#Citation: 43985

H-Index: 108

G-Index: 180

Sociability: 9

Diversity: 3

Activity: 53

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