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研究兴趣

论文共 18 篇作者统计合作学者相似作者

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Rare Deleterious Mutations of HNRNP Genes Result in Shared Neurodevelopmental Disorders
Gillentine Madelyn A.,Wang Tianyun,Hoekzema Kendra, Baylor College of Medicine,Liu Pengfei, Central South University, Weill Institute for Neurosciences, University of California at San Francisco,De Vries Bert B. A.,Vissers Lisenka E. L. M., Karolinska University Hospital, South Australian Health and Medical Research Institute,Iascone Maria,Cereda Anna,Scatigno Agnese,Maitz Silvia,Zanni Ginevra,Bertini Enrico,Zweier Christiane,Schuhmann Sarah,Wiesener Antje, Seattle Children’s Autism Center,Torti Erin,Texas Children’s Hospital,Anselm Irina,Srivastava Siddharth,Atwal Paldeep,Bacino Carlos A.,Bhat Gifty,Cobian Katherine,Rady Children’s Hospital San Diego, Rady Children’s Institute for Genomic Medicine,Callewaert Bert,Petit Florence,Mathieu Sophie,Afenjar Alexandra,Christensen Celenie K.,White Kerry M.,Elpeleg Orly, Ben-Gurion University of the Negev,Fagerberg Christina,Brasch-Andersen Charlotte,Hansen Lars Kjærsgaard,Feyma Timothy, The University of Missouri-Kansas City, School of Medicine, Children’s Mercy Kansas City, Center for Pediatric Genomic Medicine,Sullivan Bonnie,Yan Shuang,Keller Kory,Keren Boris,Mignot Cyril,Kooy Frank,Meuwissen Marije,Basinger Alice,Kukolich Mary, Philips Meredith,Ortega Lucia,Drummond-Borg Margaret,Lauridsen Mathilde,Sorensen Kristina, BC Children’s Hospital and BC Women’s Hospital, Sunny Hill Health Centre for Children,Levy Paul,Lessel Davor,Lotze Timothy, UPMC Children’s Hospital of Pittsburgh,Sebastian Jessica,Vento Jodie,Vats Divya, Benman L. Manace,Mckee Shane, Brotman Baty Institute for Precision Medicine,Muss Candace,Pappas John,Peeters Hilde,Romano Corrado,Elia Maurizio,Galesi Ornella,Simon Marleen E. H.,van Gassen Koen L. I.,Simpson Kara,Stratton Robert,Syed Sabeen,Thevenon Julien,Palafoll Irene Valenzuela, Université Bourgogne Franche-Comté,Xia Kun, Howard Hughes Medical Institute, University of Washington
Genome Medicine（2021）
引用60浏览0WOS引用
60
0
Clinical Spectrum of Individuals with Pathogenic N F1 Missense Variants Affecting P.met1149, P.arg1276, and P.lys1423: Genotype–phenotype Study in Neurofibromatosis Type 1
Magdalena Koczkowska,Tom Callens,Yunjia Chen,Alicia Gomes,Alesha D. Hicks,Angela Sharp,Eric Johns, Kim Armfield Uhas,Linlea Armstrong,Katherine Armstrong Bosanko,Dusica Babovic-Vuksanovic,Laura Baker,Donald G. Basel,Mario Bengala,James T. Bennett,Chelsea Chambers, Lola K. Clarkson,Maurizio Clementi,Fanny M. Cortes,Mitch Cunningham,M. Daniela D'Agostino,Martin B. Delatycki,Maria C. Digilio,Laura Dosa,Silvia Esposito,Stephanie Fox,Mary-Louise Freckmann,Christine Fauth,Teresa Giugliano,Sandra Giustini,Allison Goetsch,Yael Goldberg,Robert S. Greenwood,Cristin Griffis,Karen W. Gripp,Punita Gupta,Eric Haan,Rachel K. Hachen, Tamara L. Haygarth,Concepcion Hernandez-Chico,Katelyn Hodge,Robert J. Hopkin,Louanne Hudgins,Sandra Janssens,Kory Keller,Geraldine Kelly-Mancuso,Aaina Kochhar,Bruce R. Korf,Andrea M. Lewis,Jan Liebelt,Angie Lichty,Robert H. Listernick,Michael J. Lyons,Isabelle Maystadt,Mayra Martinez Ojeda,Carey McDougall, Lesley K. McGregor,Daniela Melis,Nancy Mendelsohn,Malgorzata J. M. Nowaczyk,June Ortenberg,Karin Panzer,John G. Pappas,Mary Ella Pierpont,Giulio Piluso,Valentina Pinna,Eniko K. Pivnick,Dinel A. Pond,Cynthia M. Powell,Caleb Rogers,Noa Ruhrman Shahar,S. Lane Rutledge,Veronica Saletti,Sarah A. Sandaradura,Claudia Santoro,Ulrich A. Schatz,Allison Schreiber,Daryl A. Scott,Elizabeth A. Sellars,Ruth Sheffer,Elizabeth Siqveland,John M. Slopis,Rosemarie Smith,Alberto Spalice,David W. Stockton,Haley Streff,Amy Theos,Gail E. Tomlinson,Grace Tran,Pamela L. Trapane,Eva Trevisson,Nicole J. Ullrich,Jenneke Van den Ende,Samantha A. Schrier Vergano,Stephanie E. Wallace,Michael F. Wangler,David D. Weaver,Kaleb H. Yohay,Elaine Zackai,Jonathan Zonana, Vickie Zurcher,Kathleen B. M. Claes,Marica Eoli,Yolanda Martin,Katharina Wimmer,Alessandro De Luca,Eric Legius,Ludwine M. Messiaen
HUMAN MUTATION（2020）
引用95浏览0WOS引用
95
0
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作者统计

#Papers: 18

#Citation: 754

H-Index: 14

G-Index: 18

Sociability: 6

Diversity: 2

Activity: 2

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