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论文共 224 篇作者统计合作学者相似作者

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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)
引用0浏览0WOS引用
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CFTR Gene Variant Detection in Moroccan Individuals Via Nanopore Long-Read Sequencing
Nada EL Makhzen,Alexander Nater, Jean Sebastien Rougier, Alexandre Bokhobza,Javier Sanz,Christiane Zweier, Anne-Flore Haemmerli, Remy Bruggmann,Laila Bouguenouch, Mounia Lakhdar Idrissi,Hugues Abriel
medrxiv（2025）
引用0浏览0引用
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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)
引用0浏览0WOSNATURE引用
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BCL11A Intellectual Developmental Disorder: Defining the Clinical Spectrum and Genotype-Phenotype Correlations
Angela Peron,Felice D'Arco,Kimberly A Aldinger,Constance Smith-Hicks,Christiane Zweier,Gyri A Gradek,Kimberley Bradbury,Andrea Accogli,Erica F Andersen,Ping Yee Billie Au,Roberta Battini,Daniah Beleford,Lynne M Bird,Arjan Bouman,Ange-Line Bruel,Øyvind Løvold Busk,Philippe M Campeau,Valeria Capra,Colleen Carlston,Jenny Carmichael,Anna Chassevent,Jill Clayton-Smith,Michael J Bamshad,Dawn L Earl,Laurence Faivre,Christophe Philippe,Patrick Ferreira,Luitgard Graul-Neumann, Mary J Green,Darrah Haffner,Parthiv Haldipur, Suhair Hanna,Gunnar Houge,Wendy D Jones,Cornelia Kraus, Birgit Elisabeth Kristiansen,James Lespinasse,Karen J Low,Sally Ann Lynch,Sofia Maia,Rong Mao, Ruta Kalinauskiene,Catherine Melver,Kimberly McDonald,Tara Montgomery,Manuela Morleo,Constance Motter,Amanda S Openshaw,Janice Cox Palumbos,Aditi Shah Parikh, Yezmin Perilla-Young,Cynthia M Powell,Richard Person,Megha Desai,Juliette Piard,Rolph Pfundt,Marcello Scala,Margaux Serey-Gaut,Deborah Shears,Anne Slavotinek,Mohnish Suri,Claire Turner,Tatiana Tvrdik,Karin Weiss,Ingrid M Wentzensen,Marcella Zollino,Tzung-Chien Hsieh, CRCD Research Group, Telethon Undiagnosed Disease Program (TUDP), University of Washington Center for Mendelian Genomics (UW-CMG),Bert B A de Vries,Francois Guillemot,William B Dobyns,David Viskochil,Cristina Dias
European journal of human genetics EJHG（2024）
引用4浏览0WOSNATURE引用
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作者统计

#Papers: 224

#Citation: 9211

H-Index: 48

G-Index: 94

Sociability: 8

Diversity: 3

Activity: 26

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