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Papers共 58 篇Author StatisticsCo-AuthorSimilar Experts

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Consensus Guidelines for Assessing Eligibility of Pathogenic DNA Variants for Antisense Oligonucleotide Treatments
David Cheerie, Margaret M Meserve,Danique Beijer,Charu Kaiwar, Logan Newton,Ana Lisa Taylor Tavares, Aubrie Soucy Verran, Emma Sherrill, Stefanie Leonard,Stephan J Sanders, Emily Blake, Nour Elkhateeb, Aastha Gandhi, Nicole S Y Liang, Jack T Morgan, Anna Verwillow,Jan Verheijen, Andrew Giles, Sean Williams,Maya Chopra, Laura Croft, Hormos Salimi Dafsari, Alice E Davidson, Jennifer Friedman, Anne Gregor,Bushra Haque, Rosan Lechner, Kylie-Ann Montgomery,Mina Ryten, Emil Schober,Gabriele Siegel,Patricia J Sullivan, Ella F Whittle, Bianca Zardetto,Timothy W Yu,Matthis Synofzik,Annemieke Aartsma-Rus,Gregory Costain, Marlen C Lauffer, N=1 Collaborative
American journal of human geneticsno. 5 (2025): 975-983
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ADAT3 Variants Disrupt the Activity of the ADAT Trna Deaminase Complex and Impair Neuronal Migration
Jordi Del-Pozo-Rodriguez,Peggy Tilly, Romain Lecat, Hugo Rolando Vaca, Laureline Mosser, Elena Brivio, Till Balla, Marina Vitoria Gomes, Elizabeth Ramos-Morales, Noémie Schwaller,Thalia Salinas-Giegé,Grace VanNoy, Eleina M England,Alysia Kern Lovgren,Melanie O'Leary,Maya Chopra, Naomi Meave Ojeda,Mehran Beiraghi Toosi,Atieh Eslahi, Masoome Alerasool,Majid Mojarrad, Lynn S Pais, Rebecca C Yeh, Dustin L Gable, Mais O Hashem, Firdous Abdulwahab, Muath Rakiz Alqurashi, Loai Z Sbeih, Omar Abu Adas Blanco, Renad Abu Khater,Gabriela Oprea, Aboulfazl Rad, Hamad Alzaidan,Hesham Aldhalaan, Ehab Tous, Afaf Alsagheir, Mohammed Alowain, Abdullah Tamim, Khowlah Alfayez,Amal Alhashem, Aisha Alnuzha, Mona Kamel, Bashayer S Al-Awam, Walaa Elnaggar, Nihal Almenabawy,Anne O'Donnell-Luria, Jennifer E Neil,Joseph G Gleeson,Christopher A Walsh,Fowzan S Alkuraya,Lama AlAbdi, Nour Elkhateeb,Laila Selim,Siddharth Srivastava, Danny D Nedialkova,Laurence Drouard,Christophe Romier,Efil Bayam,Juliette D Godin
Brain a journal of neurology (2025)
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Expansion of the Genotypic and Phenotypic Spectrum of SETD5 Disorder Using Data from the National Brain Gene Registry
Nora C Callahan, Sonal Mahida,Abigail Sveden, Meg Quinn,Maya Chopra,Siddharth Srivastava, Brain Gene Registry Consortium
Clinical genetics (2025)
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O32: ANKRD17-related Neurodevelopmental Syndrome (Chopra-Amiel-gordon Syndrome): Further Characterization and Emerging Genotype-Phenotype Correlations
Muhammed Cagri Bayraktutan,Abigail Sveden, Raymond Belanger,Ellen Hanson, Jack Murray,Edward Yang, Jada Cameron, Elizabeth Buttermore,Dustin Gable,Kellen Winden, Celia Tam, Vikram Prakash,Laura Trujillano,Himanshu Goel, Charlotte von der Lippe, Amelle Shillington, Yvan Herenger,Britton Zuccarelli, Linda Rosetti, Kendra Engleman,Tinatin Tkemaladze, Robert Maiwald, Amaia Lasa Aranzasti, Christopher Barnett,Marco Tartaglia, Seema Lalani, Wen-Hann Tan,Jeanne Amiel, Christopher Gordon,Mustafa Sahin,Maya Chopra
Genetics in Medicine Open (2025): 102108
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P207: Comprehensive Phenotypic Spectrum of MED13L Syndrome: Insights from Literature and the National Brain Gene Registry
Muhammed Cagri Bayraktutan,Abigail Sveden, Sonal Mahida,Maya Chopra
Genetics in Medicine Open (2025): 102172
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Clinical Variants Paired with Phenotype: A Rich Resource for Brain Gene Curation
Maya Chopra,Juliann M. Savatt, Taylor I. Bingaman,Molly E. Good, Alexis Morgan, Caitlin Cooney, Allison M. Rossel, Bryanna Vanhoute, Ineke Cordova,Sonal Mahida, Virginia Lanzotti,Dustin Baldridge,Christina A. Gurnett,Joseph Piven,Heather Hazlett,Scott L. Pomeroy,Mustafa Sahin,Philip R. O. Payne,Erin Rooney Riggs,John N. Constantino
GENETICS IN MEDICINEno. 3 (2024)
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Lessons from Two Series by Physicians and Caregivers' Self-Reported Data in DDX3X-related Disorders
Valentin Ruault,Pauline Burger, Johanna Gradels-Hauguel,Nathalie Ruiz,Rami Abou Jamra,Alexandra Afenjar,Yves Alembik,Jean-Luc Alessandri,Stephanie Arpin,Giulia Barcia,Sarka Bendova,Ange-Line Bruel,Perrine Charles,Nicolas Chatron,Maya Chopra,Solene Conrad,Valerie Cormier Daire,Auriane Cospain,Christine Coubes,Juliette Coursimault,Andree Delahaye-Duriez,Martine Doco,William Dufour,Benjamin Durand,Camille Engel,Laurence Faivre, Fanny Ferroul,Melanie Fradin, Helene Frenkiel,Carlo Fusco,Livia Garavelli,Aurore Garde,Benedicte Gerard,David Germanaud,Louise Goujon,Aurelie Gouronc,Emmanuelle Ginglinger,Alice Goldenberg,Miroslava Hancarova,Marketa Havlovicova,Delphine Heron,Bertrand Isidor,Nolwenn Jean Marcais,Boris Keren,Margarete Koch-Hogrebe,Paul Kuentz, Victoria Lamure,Anne-Sophie Lebre,Francois Lecoquierre,Natacha Lehman,Gaetan Lesca,Stanislas Lyonnet, Delphine Martin,Cyril Mignot,Teresa M. Neuhann,Gael Nicolas,Mathilde Nizon,Florence Petit,Christophe Philippe,Amelie Piton,Marzia Pollazzon,Darina Prchalova,Audrey Putoux,Marlene Rio,Sophie Rondeau,Massimiliano Rossi,Quentin Sabbagh,Pascale Saugier-Veber,Ariane Schmetz,Julie Steffann,Christel Thauvin-Robinet,Annick Toutain,Frederic Tran Mau Them,Gabriele Trimarchi,Marie Vincent,Marketa Vlckova,Dagmar Wieczorek,Marjolaine Willems,Kevin Yauy,Michaela Zelinova,Alban Ziegler,Boris Chaumette,Bekim Sadikovic,Jean-Louis Mandel,David Genevieve
Molecular Genetics & Genomic Medicine（2024）
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Author Statistics

#Papers: 58

#Citation: 948

H-Index: 16

G-Index: 30

Sociability: 7

Diversity: 3

Activity: 18

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