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Papers共 117 篇Author StatisticsCo-AuthorSimilar Experts

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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
0
The Clinical and Molecular Spectrum of the KDM6B-related Neurodevelopmental Disorder
Dmitrijs Rots,Taryn E. Jakub,Crystal Keung,Vissers E. L. M. Lisenka,Siddharth Banka,Rolph Pfundt,Bert B. A. de Vries,Richard H. van Jaarsveld,Saskia M. J. Hopman,Ellen van Binsbergen,Irene Valenzuela,Maja Hempel,Tatjana Bierhals,Fanny Kortuem,Francois Lecoquierre,Alice Goldenberg,Jens Michael Hertz,Charlotte Brasch Andersen,Maria Kibaek,Eloise J. Prijoles,Roger E. Stevenson,David B. Everman,Wesley G. Patterson,Linyan Meng,Charul Gijavanekar,Karl De Dios,Shenela Lakhani,Tess Levy,Matias Wagner,Dagmar Wieczorek,Paul J. Benke,Maria Soledad Lopez Garcia,Renee Perrier,Sergio B. Sousa,Pedro M. Almeida,Maria Jose Simoes,Bertrand Isidor,Wallid Deb,Andrew A. Schmanski,Omar Abdul-Rahman,Christophe Philippe,Ange-Line Bruel,Laurence Faivre,Antonio Vitobello,Christel Thauvin,Jeroen J. Smits,Livia Garavelli,Stefano G. Caraffi,Francesca Peluso,Laura Davis-Keppen, Dylan Platt,Erin Royer,Lisette Leeuwen,Margje Sinnema,Alexander P. A. Stegmann,Constance T. R. M. Stumpel,George E. Tiller,Danielle G. M. Bosch, Stephanus T. Potgieter,Shelagh Joss,Miranda Splitt,Simon Holden,Matina Prapa,Nicola Foulds,Sofia Douzgou,Kaija Puura,Regina Waltes,Andreas G. Chiocchetti,Christine M. Freitag,F. Kyle Satterstrom,Silvia De Rubeis,Joseph Buxbaum,Bruce D. Gelb,Aleksic Branko,Itaru Kushima,Jennifer Howe,Stephen W. Scherer,Alessia Arado,Chiara Baldo,Olivier Patat,Demeer Benedicte,Diego Lopergolo,Filippo M. Santorelli,Tobias B. Haack,Andreas Dufke,Miriam Bertrand,Ruth J. Falb,Angelika Riess,Peter Krieg,Stephanie Spranger,Maria Francesca Bedeschi,Maria Iascone,Sarah Josephi-Taylor,Tony Roscioli,Michael F. Buckley,Jan Liebelt,Aditi I. Dagli,Emmelien Aten,Anna C. E. Hurst, Alesha Hicks,Mohnish Suri,Ermal Aliu,Sunil Naik,Richard Sidlow,Juliette Coursimault,Gael Nicolas,Hanna Kuepper,Florence Petit, Veyan Ibrahim,Deniz Top,Francesca Di Cara,Raymond J. Louie,Elliot Stolerman,Han G. Brunner,Lisenka E. L. M. Vissers,Jamie M. Kramer,Tjitske Kleefstra
The American Journal of Human Geneticsno. 6 (2023): 963-978
Cited9Views0WOSBibtex
9
0
P151: Long-term Outcomes of Adult Siblings with TRIT1-related Disorder
Drew Cratsenberg,Omar Abdul-Rahman
Genetics in Medicine Openno. 1 (2023): 100180-100180
Cited0Views0Bibtex
0
0
Re: Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome (vol 185A, pg 1649, 2021)
Sarah E. Sheppard,Ian M. Campbell,Margaret H. Harr,Nina Gold,Dong Li,Hans T. Bjornsson,Julie S. Cohen,Jill A. Fahrner,Ali Fatemi,Jacqueline R. Harris,Catherine Nowak,Cathy A. Stevens,Katheryn Grand,Margaret Au,John M. Graham,Pedro A. Sanchez-Lara,Miguel Del Campo,Marilyn C. Jones,Omar Abdul-Rahman,Fowzan S. Alkuraya,Jennifer A. Bassetti,Katherine Bergstrom,Elizabeth Bhoj,Sarah Dugan,Julie D. Kaplan,Nada Derar,Karen W. Gripp,Natalie Hauser,A. Micheil Innes,Beth Keena,Neslida Kodra,Rebecca Miller,Beverly Nelson,Malgorzata J. Nowaczyk,Zuhair Rahbeeni,Shay Ben-Shachar,Joseph T. Shieh,Anne Slavotinek,Andrew K. Sobering,Mary-Alice Abbott,Dawn C. Allain,Louise Amlie-Wolf,Ping Yee Billie Au,Emma Bedoukian,Geoffrey Beek,James Barry,Janet Berg,Jonathan A. Bernstein,Cheryl Cytrynbaum,Brian Hon-Yin Chung,Sarah Donoghue,Naghmeh Dorrani,Alison Eaton,Josue A. Flores-Daboub,Holly Dubbs,Carolyn A. Felix,Chin-To Fong,Jasmine Lee Fong Fung,Balram Gangaram,Amy Goldstein,Rotem Greenberg,Thoa K. Ha,Joseph Hersh,Kosuke Izumi,Staci Kallish,Elijah Kravets,Pui-Yan Kwok,Rebekah K. Jobling,Amy E. Knight Johnson,Jessica Kushner,Bo Hoon Lee,Brooke Levin,Kristin Lindstrom,Kandamurugu Manickam,Rebecca Mardach,Elizabeth McCormick,D. Ross McLeod,Frank D. Mentch,Kelly Minks,Colleen Muraresku,Stanley F. Nelson,Patrizia Porazzi,Pavel N. Pichurin,Nina N. Powell-Hamilton,Zoe Powis,Alyssa Ritter,Caleb Rogers,Luis Rohena,Carey Ronspies,Audrey Schroeder,Zornitza Stark,Lois Starr,Joan Stoler,Pim Suwannarat,Milen Velinov,Rosanna Weksberg,Yael Wilnai,Neda Zadeh,Dina J. Zand,Marni J. Falk,Hakon Hakonarson,Elaine H. Zackai,Fabiola Quintero-Rivera
AMERICAN JOURNAL OF MEDICAL GENETICS PART A（2022）
Cited0Views0Bibtex
0
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Author Statistics

#Papers: 117

#Citation: 5267

H-Index: 35

G-Index: 72

Sociability: 7

Diversity: 3

Activity: 5

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