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Papers共 74 篇Author StatisticsCo-AuthorSimilar Experts

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Heterozygous UBR5 Variants Result in a Neurodevelopmental Syndrome with Developmental Delay, Autism, and Intellectual Disability
Pascale Sabeh, Samantha A. Dumas,Claudia Maios, Hiba Daghar, Marek Korzeniowski,Justine Rousseau,Matthew Lines,Andrea Guerin,John J. Millichap,Megan Landsverk,Theresa Grebe,Kristin Lindstrom,Jonathan Strober, Tarik Ait Mouhoub,Christiane Zweier,Michelle Steinraths,Moritz Hebebrand,Bert Callewaert,Rami Abou Jamra, Monika Kautza-Lucht,Meret Wegler,Paul Kruszka,Candy Kumps, Ehud Banne, Marta Biderman Waberski,Anne Dieux,Sarah Raible,Ian Krantz,Livija Medne,Kieran Pechter, Laurent Villard,Renzo Guerrini,Claudia Bianchini,Carmen Barba, Davide Mei, Xavier Blanc, Christine Kallay,Emmanuelle Ranza, Xiao-Ru Yang,Emily O'Heir,Kirsten A. Donald,Serini Murugasen,Zandre Bruwer, Muge Calikoglu, Jennifer M. Mathews,Marion Lesieur-Sebellin, Genevieve Baujat,Nicolas Derive, Tyler Mark Pierson,Jill R. Murrell,Amelle Shillington,Clothilde Ormieres,Sophie Rondeau,Andre Reis, Alberto Fernandez-Jaen,Ping Yee Billie Au,David A. Sweetser,Lauren C. Briere,Nathalie Couque,Laurence Perrin, Jennifer Schymick,Paul Gueguen,Mathilde Lefebvre, Michael Van Andel, Jane Juusola, Stylianos E. Antonarakis, Ethud Banne, J. Alex Parker, Barrington G. Burnett, Philippe M. Campeau
AMERICAN JOURNAL OF HUMAN GENETICSno. 1 (2025)
Cited0Views0WOSBibtex
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Peripheral Nerve Diseases
Alexander Fay,Jonathan Strober
Pediatric Neurology (2021)
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Truncating SRCAP Variants Outside the Floating-Harbor Syndrome Locus Cause a Distinct Neurodevelopmental Disorder with a Specific DNA Methylation Signature
Dmitrijs Rots,Eric Chater-Diehl,Alexander J. M. Dingemans,Sarah J. Goodman,Michelle T. Siu,Cheryl Cytrynbaum,Sanaa Choufani,Ny Hoang,Susan Walker,Zain Awamleh,Joshua Charkow,Stephen Meyn,Rolph Pfundt,Tuula Rinne,Thatjana Gardeitchik,Bert B. A. de Vries,A. Chantal Deden,Erika Leenders,Michael Kwint,Constance T. R. M. Stumpel,Servi J. C. Stevens,Jeroen R. Vermeulen, Jeske V. T. van Harssel,Danielle G. M. Bosch,Koen L. van Gassen,Ellen van Binsbergen,Christa M. de Geus,Hein Brackel,Maja Hempel,Davor Lessel,Jonas Denecke,Anne Slavotinek,Jonathan Strober,Amy Crunk,Leandra Folk,Ingrid M. Wentzensen,Hui Yang,Fanggeng Zou,Francisca Millan,Richard Person,Yili Xie,Shuxi Liu,Lilian B. Ousager,Martin Larsen,Laura Schultz-Rogers,Eva Morava,Eric W. Klee,Ian R. Berry, Jennifer Campbell,Kristin Lindstrom,Brianna Pruniski,Ann M. Neumeyer,Jessica A. Radley,Chanika Phornphutkul,Berkley Schmidt,William G. Wilson,Katrin Ounap,Karit Reinson,Sander Pajusalu,Arie van Haeringen,Claudia Ruivenkamp,Roos Cuperus,Fernando Santos-Simarro,Maria Palomares-Bralo,Marta Pacio-Miguez,Alyssa Ritter,Elizabeth Bhoj,Elin Tonne,Kristian Tveten,Gerarda Cappuccio,Nicola Brunetti-Pierri, Leah Rowe,Jason Bunn,Margarita Saenz,Konrad Platzer,Mareike Mertens,Oana Caluseriu,Malgorzata J. M. Nowaczyk,Ronald D. Cohn,Peter Kannu,Ebba Alkhunaizi,David Chitayat,Stephen W. Scherer,Han G. Brunner,Lisenka E. L. M. Vissers,Tjitske Kleefstra,David A. Koolen,Rosanna Weksberg
The American Journal of Human Genetics（2021）
Cited47Views0WOSBibtex
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Author Statistics

#Papers: 75

#Citation: 2022

H-Index: 22

G-Index: 42

Sociability: 6

Diversity: 3

Activity: 3

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