Thomas D. Challman - AI Profile | 人才画像

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论文共 31 篇作者统计合作学者相似作者

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Autism Spectrum Disorder

Scott M. Myers,Thomas D. Challman

Capute and Accardo' s Neurodevelopmental Disabilities in Infancy and Childhoodpp.589-683, (2025)

引用1浏览0引用

Etiologic Evaluation of Children with Autism Spectrum Disorder

Steven M. Lazar,Thomas D. Challman,Scott M. Myers

PEDIATRIC CLINICS OF NORTH AMERICAno. 2 (2024): 179-197

引用0浏览0WOS引用

Monoallelic Variation in DHX9, the Gene Encoding the DExH-box Helicase DHX9, Underlies Neurodevelopment Disorders and Charcot-Marie-Tooth Disease

Daniel G. Calame, Tianyu Guo,Chen Wang,Lillian Garrett,Angad Jolly,Moez Dawood,Alina Kurolap,Noa Zunz Henig,Jawid M. Fatih,Isabella Herman,Haowei Du,Tadahiro Mitani,Lore Becker,Birgit Rathkolb,Raffaele Gerlini,Claudia Seisenberger,Susan Marschall,Jill Hunter,Amanda Gerard,Alexis Heidlebaugh,Thomas Challman,Rebecca C. Spillmann,Shalini N. Jhangiani,Zeynep Coban-Akdemir,Seema Lalani,Lingxiao Liu,Anya Revah-Politi,Alejandro Iglesias,Edwin Guzman,Evan Baugh,Nathalie Boddaert,Sophie Rondeau, Clothide Ormieres,Giulia Barcia,Queenie K. G. Tan,Sophie Isabelle Thiffault,Tomi Pastinen,Kazim Sheikh,Suur Biliciler,Davide Mei,Federico Melani,Vandana Shashi,Yuval Yaron,Mary Steele,Emma Wakeling,Elsebet Ostergaard,Lusine Nazaryan-Petersen,Francisca Millan,Teresa Santiago-Sim,Julien Thevenon,Ange-Line Bruel,Christel Thauvin-Robinet,Denny Popp,Konrad Platzer,Pawel Gawlinski,Wojciech Wiszniewski,Dana Marafi,Davut Pehlivan,Jennifer E. Posey,Richard A. Gibbs,Valerie Gailus-Durner,Renzo Guerrini,Helmut Fuchs,Martin Hrabe de Angelis,Sabine M. Hoelter,Hoi-Hung Cheung,Shen Gu,James R. Lupski

AMERICAN JOURNAL OF HUMAN GENETICS（2023）

引用2浏览0WOS引用

Expanding the Phenotype of ASXL3-related Syndrome: a Comprehensive Description of 45 Unpublished Individuals with Inherited and De Novo Pathogenic Variants in ASXL3 (vol 185A, Pg 3446, 2021)

Schaida Schirwani,Albaba J. Shadi,Deanna Alexis Carere,Maria J. Guillen Sacoto,Francisca Milan Zamora,Yue Si,Rachel Rabin,John Pappas,Deborah L. Renaud,Natalie Hauser,Evan Reid,Patricia Blanchet,Nichola Foulds,Abhijit Dixit,Richard Fisher,Ruth Armstrong,Bertrand Isidor,Benjamin Cogne,Samantha Schrier Vergano,Serwet Demirdas,Natalie Dykzeul,Julie S. Cohen,Katheryn Grand,Dayna Morel,Anne Slavotinek,Hessa F. Albassam,Swati Naik,John Dean,Nicola Ragge,Cinzia Costa,Maria Giovanna Tedesco,Rachel E. Harrison,Arjan Bouman,Emily Palen,Thomas D. Challman,Marjolein H. Willemsen,Julie Vogt,Christopher Cunniff,Katherine Bergstrom,Jagdeep S. Walia,Ange-Line Bruel,Usha Kini,Fowzan S. Alkuraya,Valerie Slegesky,Naomi Meeks,Paula Girotto,Diana Johnson,Ruth Newbury-Ecob,Charlotte W. Ockeloen,Paolo Prontera,Sally Ann Lynch,Dong Li,John M. Graham,Tyler Mark Pierson,Meena Balasubramanian

AMERICAN JOURNAL OF MEDICAL GENETICS PART Ano. 1 (2023): 310-310

引用0浏览0引用

De Novo Coding Variants in the AGO1 Gene Cause a Neurodevelopmental Disorder with Intellectual Disability

Audrey Schalk,Margot A. Cousin,Thomas D. Challman,Karen E. Wain,Zoe Powis,Kelly Minks,Aurelien Trimouille,Eulalie Lasseaux,Didier Lacombre,Chloe Angelini,Vincent Michaud,Julien Van-Gils,Nino Spataro,Anna Ruiz,Elizabeth Gabau,Elliot Stolerman,Camerun Washington,Raymond J. Louie,Brendan C. Lanpher,Jennifer L. Kemppainen,A. Micheil Innes,R. Frank Kooy,Marije Meuwissen,Alice Goldenberg,Francois Lecoquierre,Gabriella Vera,Karin E. M. Diderich,Beth Rosen Sheidley,Christelle Moufawad El Achkar,Meredith Park,Fadi F. Hamdan,Jacques L. Michaud,Ann J. Lewis,Christiane Zweier,Andre Reis,Matias Wagner,Heike Weigand,Hubert Journel,Boris Keren,Sandrine Passemard,Cyril Mignot,Koen L. van Gassen,Eva H. Brilstra,Gina Itzikowitz,Emily O'Heir,Jake Allen,Kirsten A. Donald,Bruce R. Korf,Tammi Skelton,Michelle L. Thompson,Nathaniel H. Robin,Natasha Rudy,William B. Dobyns,Kimberly Foss,Yuri A. Zarate,Katherine A. Bosanko,Yves Alembik,Benjamin Durand,Frederic Tran Mau-them,Emmanuelle Ranza,Xavier Blanc,Stylianos E. Antonarakis,Kirsty McWalter,Erin Torti,Francisca Millan,Amy Dameron,Mari J. Tokita,Michael T. Zimmermann,Eric W. Klee,Amelie Piton,Benedicte Gerard

JOURNAL OF MEDICAL GENETICS（2022）

引用9浏览0WOS引用

Expanding the Phenotype of ASXL3‐related Syndrome: A Comprehensive Description of 45 Unpublished Individuals with Inherited and De Novo Pathogenic Variants in ASXL3

Schaida Schirwani,Shadi Albaba,Deanna Alexis Carere,Maria J. Guillen Sacoto,Francisca Milan Zamora,Yue Si,Rachel Rabin,John Pappas,Deborah L. Renaud,Natalie Hauser,Evan Reid,Patricia Blanchet,Nichola Foulds,Abhijit Dixit,Richard Fisher,Ruth Armstrong,Bertrand Isidor,Benjamin Cogne,Samantha Schrier Vergano,Serwet Demirdas,Natalie Dykzeul,Julie S. Cohen,Katheryn Grand,Dayna Morel,Anne Slavotinek,Hessa F. Albassam,Swati Naik,John Dean,Nicola Ragge,Costa Cinzia,Maria Giovanna Tedesco,Rachel E. Harrison,Arjan Bouman,Emily Palen,Thomas D. Challman,Marjolein H. Willemsen,Julie Vogt,Christopher Cunniff,Katherine Bergstrom,Jagdeep S. Walia,Ange-Line Bruel,Usha Kini,Fowzan S. Alkuraya,Valerie Slegesky,Naomi Meeks,Paula Girotto,Diana Johnson,Ruth Newbury-Ecob,Charlotte W. Ockeloen,Paolo Prontera,Sally Ann Lynch,Dong Li,John M. Graham,Meena Balasubramanian

American Journal of Medical Genetics Part A（2021）

引用11浏览0WOS引用

Agustí Rodríguez-Palmero,Melissa Maria Boerrigter,David Gómez-Andrés,Kimberly A. Aldinger,Íñigo Marcos-Alcalde,Bernt Popp,David B. Everman,Alysia Kern Lovgren,Stephanie Arpin,Vahid Bahrambeigi,Gea Beunders,Anne-Marie Bisgaard,V. A. Bjerregaard,Ange-Line Bruel,Thomas D. Challman,Benjamin Cogné,Christine Coubes,Stella A. de Man,Anne-Sophie Denommé-Pichon,Thomas J. Dye,Frances Elmslie,Lars Feuk,Sixto García-Miñaúr,Tracy Gertler,Elisa Giorgio,Nicolas Gruchy,Tobias B. Haack,Chad R. Haldeman-Englert,Bjørn Ivar Haukanes,Juliane Hoyer,Anna C. E. Hurst,Bertrand Isidor,Maria Johansson Soller,Sulagna Kushary,Malin Kvarnung,Yuval E. Landau,Kathleen A. Leppig,Anna Lindstrand,Lotte Kleinendorst,Alex MacKenzie,Giorgia Mandrile,Bryce A. Mendelsohn,Setareh Moghadasi,Jenny E. Morton,Sebastien Moutton,Amelie J. Müller,Melanie O’Leary,Marta Pacio-Míguez,Maria Palomares-Bralo,Sumit Parikh, Rolph Pfundt,Ben Pode-Shakked,Anita Rauch,Elena Repnikova,Anya Revah-Politi,Meredith J. Ross,Claudia A. L. Ruivenkamp,Elisabeth Sarrazin,Juliann M. Savatt,Agatha Schlüter,Bitten Schönewolf-Greulich,Zohra Shad,Charles Shaw-Smith,Joseph T. Shieh, Motti Shohat,Stephanie Spranger,Heidi Thiese,Frederic Tran Mau-Them,Bregje van Bon, Ineke van de Burgt,Ingrid M. B. H. van de Laar, Esmée van Drie,Mieke M. van Haelst,Conny M. van Ravenswaaij-Arts,Edgard Verdura,Antonio Vitobello,Stephan Waldmüller,Sharon Whiting,Christiane Zweier,Carlos E. Prada,Bert B. A. de Vries,William B. Dobyns,Simone F. Reiter,Paulino Gómez-Puertas,Aurora Pujol,Zeynep Tümer

Genetics in Medicine（2021）

引用19浏览0WOS引用

Response to Buxbaum Et Al

Scott M. Myers,Thomas D. Challman, Christa Leese Martin, David H. Ledbetter

The American Journal of Human Geneticsno. 5 (2020)

引用0浏览0引用

Insufficient Evidence for “Autism-Specific” Genes

Scott M. Myers,Thomas D. Challman,Raphael Bernier,Thomas Bourgeron,Wendy K. Chung,John N. Constantino,Evan E. Eichler,Sebastien Jacquemont,David T. Miller,Kevin J. Mitchell,Huda Y. Zoghbi,Christa Lese Martin,David H. Ledbetter

The American Journal of Human Geneticsno. 5 (2020): 587-595

引用105浏览0WOS引用

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