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Papers共 210 篇Author StatisticsCo-AuthorSimilar Experts

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Expanded Phenotypic Spectrum of Neurodevelopmental and Neurodegenerative Disorder Bryant-Li-Bhoj Syndrome with 38 Additional Individuals
Dana E. Layo-Carris,Emily E. Lubin,Annabel K. Sangree,Kelly J. Clark,Emily L. Durham,Elizabeth M. Gonzalez, Sarina Smith,Rajesh Angireddy, Xiao Min Wang, Erin Weiss,Roberto Mendoza-Londono,Lucie Dupuis,Nadirah Damseh,Danita Velasco,Irene Valenzuela,Marta Codina-Sola,Catherine Ziats, Jaclyn Have,Katie Clarkson,Dora Steel,Manju Kurian,Katy Barwick, Diana Carrasco,Aditi I. Dagli,M. J. M. Nowaczyk,Miroslava Hancarova,Sarka Bendova,Darina Prchalova,Zdenek Sedlacek, Alica Baxova,Catherine Bearce Nowak,Jessica Douglas,Wendy K. Chung,Nicola Longo,Konrad Platzer,Chiara Kloeckner,Luisa Averdunk,Dagmar Wieczorek,Ilona Krey,Christiane Zweier,Andre Reis,Tugce Balci,Marleen Simon,Hester Y. Kroes,Antje Wiesener,Georgia Vasileiou,Nikolaos M. Marinakis,Danai Veltra,Christalena Sofocleous,Konstantina Kosma,Joanne Traeger Synodinos, Konstantinos A. Voudris,Marie-Laure Vuillaume,Paul Gueguen,Nicolas Derive,Estelle Colin, Clarisse Battault,Billie Au,Martin Delatycki,Mathew Wallis,Lyndon Gallacher,Fatma Majdoub,Noor Smal,Sarah Weckhuysen,An-Sofie Schoonjans,R. Frank Kooy,Marije Meuwissen,Benjamin T. Cocanougher,Kathryn Taylor,Carolyn E. Pizoli,Marie T. McDonald, Philip James,Elizabeth R. Roeder,Rebecca Littlejohn,Nicholas A. Borja,Willa Thorson, Kristine King,Radka Stoeva,Manon Suerink,Esther Nibbeling, Stephanie Baskin, Gwenael L. E. Guyader,Julie Kaplan,Candace Muss,Deanna Alexis Carere,Elizabeth J. K. Bhoj,Laura M. Bryant
European journal of human genetics (2024)
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Loss of Symmetric Cell Division of Apical Neural Progenitors Drives DENND5A-related Developmental and Epileptic Encephalopathy
Emily Banks,Vincent Francis,Sheng-Jia Lin,Fares Kharfallah,Vladimir Fonov,Maxime Lévesque,Chanshuai Han,Gopinath Kulasekaran,Marius Tuznik,Armin Bayati,Reem Al-Khater,Fowzan S Alkuraya,Loukas Argyriou,Meisam Babaei,Melanie Bahlo, Behnoosh Bakhshoodeh,Eileen Barr,Lauren Bartik,Mahmoud Bassiony,Miriam Bertrand,Dominique Braun,Rebecca Buchert,Mauro Budetta,Maxime Cadieux-Dion,Daniel G Calame,Heidi Cope, Donna Cushing,Stephanie Efthymiou,Marwa Abd Elmaksoud,Huda G El Said,Tawfiq Froukh, Harinder K Gill,Joseph G Gleeson, Laura Gogoll,Elaine S-Y Goh,Vykuntaraju K Gowda,Tobias B Haack,Mais O Hashem,Stefan Hauser,Trevor L Hoffman,Jacob S Hogue, Akimoto Hosokawa,Henry Houlden,Kevin Huang,Stephanie Huynh,Ehsan G Karimiani,Silke Kaulfuß,G Christoph Korenke,Amy Kritzer,Hane Lee,James R Lupski,Elysa J Marco,Kirsty McWalter, Arakel Minassian,Berge A Minassian,David Murphy,Juanita Neira-Fresneda,Hope Northrup,Denis M Nyaga,Barbara Oehl-Jaschkowitz,Matthew Osmond,Richard Person,Davut Pehlivan,Cassidy Petree,Lynette G Sadleir,Carol Saunders,Ludger Schoels,Vandana Shashi,Rebecca C Spillmann,Varunvenkat M Srinivasan, Paria N Torbati,Tulay Tos,Undiagnosed Diseases Network,Maha S Zaki,Dihong Zhou,Christiane Zweier,Jean-François Trempe,Thomas M Durcan,Ziv Gan-Or,Massimo Avoli,Cesar Alves,Gaurav K Varshney,Reza Maroofian,David A Rudko,Peter S McPherson
Nature Communicationsno. 1 (2024): 1-22
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MSL2 Variants Lead to a Neurodevelopmental Syndrome with Lack of Coordination, Epilepsy, Specific Dysmorphisms, and a Distinct Episignature
Remzi Karayol, Maria Carla Borroto,Sadegheh Haghshenas, Anoja Namasivayam,Jack Reilly,Michael A. Levy,Raissa Relator,Jennifer Kerkhof,Haley Mcconkey,Maria Shvedunova, Andrea K. Petersen, Kari Magnussen,Christiane Zweier,Georgia Vasileiou,Andre Reis,Juliann M. Savatt, Meghan R. Mulligan,Louise S. Bicknell,Gemma Poke,Aya Abu-El-Haija, Jessica Duis, Vickie Hannig, Siddharth Srivastava, Elizabeth Barkoudah, Natalie s. Hauser, Myrthe van den Born, Uri Hamiel, Noa Henig, Hagit Baris Feldman, Shane Mckee, Ingrid P. C. Krapels, Yunping Lei, Albena Todorova, Ralitsa Yordanova, Slavena Atemin, Mihael Rogac, Vivienne Mcconnell, Anna Chassevent, Kristin W. Baranano, Vandana Shashi, Jennifer A. Sullivan, Angela Peron, Maria Iascone, Maria P. Canevini, Jennifer Friedman, Iris A. Reyes, Janell Kierstein, Joseph J. Shen, Faria N. Ahmed, Xiao Mao, Berta Almoguera, Fiona Blanco-Kelly, Konrad Platzer, Ariana-Berenike Treu, Juliette Quilichini, Alexia Bourgois, Nicolas Chatron, Louis Januel, Christelle Rougeot, Deanna Alexis Carere, Kristin G. Monaghan, Justine Rousseau, Kenneth A. Myers, Bekim Sadikovic, Asifa Akhtar, Philippe M. Campeau
American journal of human genetics (2024)
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Author Statistics

#Papers: 212

#Citation: 9763

H-Index: 49

G-Index: 97

Sociability: 8

Diversity: 3

Activity: 86

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