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Papers共 111 篇Author StatisticsCo-AuthorSimilar Experts

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Variants in BSN, Encoding the Presynaptic Protein Bassoon, Result in a Novel Neurodevelopmental Disorder with a Broad Phenotypic Range
Stacy G Guzman,Sarah M Ruggiero,Shiva Ganesan, Colin A Ellis, Alicia G Harrison,Katie R Sullivan,Zornitza Stark,Natasha J Brown, Sajel L Kana, Anabelle Tuttle,Jair Tenorio,Pablo Lapunzina, Julián Nevado,Marie T McDonald,Courtney Jensen,Patricia G Wheeler, Lila Stange,Jennifer Morrison,Boris Keren,Solveig Heide, Meg W Keating,Kameryn M Butler, Mike A Lyons, Shailly Jain, Mehdi Yeganeh,Michelle L Thompson, Molly Schroeder, Hoanh Nguyen, Jorge Granadillo, Kari M Johnston,Chaya N Murali, Katie Bosanko, T Andrew Burrow, CHOP Birth Defects Biorepository, Penn Medicine BioBank, Syreeta Morgan,Deborah J Watson,Hakon Hakonarson,Ingo Helbig
American journal of human genetics（2025）
Cited0Views0WOSBibtex
0
0
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)
Cited1Views0WOSNATUREBibtex
1
0
Genomic Analyses in Cornelia De Lange Syndrome and Related Diagnoses: Novel Candidate Genes, Genotype-Phenotype Correlations and Common Mechanisms
Maninder Kaur,Justin Blair,Batsal Devkota,Sierra Fortunato,Dinah Clark, Audrey Lawrence, Jiwoo Kim, Wonwook Do, Benjamin Semeo,Olivia Katz,Devanshi Mehta,Nobuko Yamamoto,Emma Schindler, Zayd Al Rawi, Nina Wallace,Jonathan J. Wilde,Jennifer McCallum,Jinglan Liu,Dongbin Xu,Marie McDonald,Stefan Rentas,Ahmad Abou Tayoun,Zhang Zhe,Omar Abdul-Rahman, Bill Allen, Moris A. Angula,Kwame Anyane-Yeboa,Jesus Argente, Pamela H. Arn,Linlea Armstrong,Lina Basel-Salmon,Gareth Baynam,Lynne M. Bird, Daniel Bruegger,Gaik-Siew Ch'ng,David Chitayat,Robin Clark,Gerald F. Cox,Usha Dave, Elfrede DeBaere, Michael Field,John M. Graham,Karen W. Gripp,Robert Greenstein,Neerja Gupta, Randy Heidenreich,Jodi Hoffman,Robert J. Hopkin,Kenneth L. Jones,Marilyn C. Jones,Ariana Kariminejad,Jillene Kogan,Baiba Lace, Julian Leroy,Sally Ann Lynch, Kirsten Meagher,Nancy Mendelsohn,Ieva Micule, John M. Toimie,Sheela Nampoothiri, Kaoru Ohashi,Cynthia M. Powell,Subhadra Ramanathan,Salmo Raskin,Elizabeth Roeder,Marlene Rio,Alan F. Rope,Karan Sangha,Angela E. Scheuerle,Adele Schneider,Stavit Shalev,Victoria Siu,Rosemarie Smith,Cathy Stevens,Tinatin Tkemaladze, John Toimie,Helga Toriello,Anne Turner,Patricia G. Wheeler,Susan M. White,Terri Young,Kathleen M. Loomes,Mary Pipan, Ann Tokay Harrington,Elaine Zackai,Ramakrishnan Rajagopalan,Laura Conlin,Matthew A. Deardorff,Deborah McEldrew,Juan Pie,Feliciano Ramos,Antonio Musio,Antonie D. Kline,Kosuke Izumi,Sarah E. Raible,Ian D. Krantz
AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 8 (2023): 2113-2131
Cited17Views0WOSBibtex
17
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Author Statistics

#Papers: 112

#Citation: 6687

H-Index: 36

G-Index: 81

Sociability: 8

Diversity: 3

Activity: 16

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