Undiagnosed Diseases Network - AI Profile

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论文共 40 篇作者统计合作学者相似作者

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Phenotypic Overlap Between Rare Disease Patients and Variant Carriers in a Large Population Cohort Informs Biological Mechanisms

Lane Fitzsimmons,Undiagnosed Diseases Network,Brett Beaulieu-Jones,Shilpa Nadimpalli Kobren

medRxiv the preprint server for health sciences (2024)

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Clinical validation of RNA sequencing for Mendelian disorder diagnostics

Sen Zhao, Kristina Macakova,Jefferson Sinson,Hongzheng dai,Jill Rosenfeld,Gladys Zapata, Shenglan Li,Patricia Ward,Christiana Wang,Chunjing Qu, Becky Maywald,Undiagnosed Diseases Network,Brendan Lee,Christine Eng,Pengfei Liu

medrxiv（2024）

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VarPPUD: Variant Post Prioritization Developed for Undiagnosed Genetic Disorders

Rui Yin, Alba Gutierrez,Undiagnosed Diseases Network,Shilpa Nadimpalli Kobren,Paul Avillach

medRxiv the preprint server for health sciences (2024)

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Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions

Kristine Bilgrav Saether,Jesper Eisfeldt,Jesse Bengtsson,Ming Yin Lun,Christopher M Grochowski,Medhat Mahmoud,Hsiao-Tuan Chao,Jill A Rosenfeld,Pengfei Liu,Jakob Schuy,Adam Ameur,Undiagnosed Diseases Network, James Paul Hwang,Fritz J Sedlazeck,Weimin Bi,Ronit Marom,Ann Nordgren,Claudia M B Carvalho,Anna Lindstrand

medRxiv : the preprint server for health sciences (2024)

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Variants in LRRC7 Lead to Intellectual Disability, Autism, Aggression and Abnormal Eating Behaviors

Jana Willim,Daniel Woike, Daniel Greene,Sarada Das,Kevin Pfeifer, Weimin Yuan,Anika Lindsey,Omar Itani, Amber L Böhme,Debora Tibbe,Hans-Hinrich Hönck,Fatemeh Hassani Nia,Undiagnosed Diseases Network,Michael Zech,Theresa Brunet,Laurence Faivre,Arthur Sorlin,Antonio Vitobello,Thomas Smol,Cindy Colson,Kristin Baranano, Krista Schatz, Allan Bayat,Kelly Schoch,Rebecca Spillmann,Erica E Davis,Erin Conboy,Francesco Vetrini,Konrad Platzer,Sonja Neuser,Janina Gburek-Augustat, Alexandra Noel Grace, Bailey Mitchell,Alexander Stegmann,Margje Sinnema,Naomi Meeks,Carol Saunders,Maxime Cadieux-Dion,Juliane Hoyer,Julien Van-Gils, Jean-Madeleine de Sainte-Agathe,Michelle L Thompson,E Martina Bebin,Monika Weisz-Hubshman,Anne-Claude Tabet,Alain Verloes,Jonathan Levy,Xenia Latypova,Sönke Harder,Gary A Silverman,Stephen C Pak, Tim Schedl, Kathleen Freson,Andrew Mumford,Ernest Turro,Christian Schlein,Vandana Shashi, Hans-Jürgen Kreienkamp

Nature Communicationsno. 1 (2024): 1-18

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Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease

Tanner D Jensen,Bohan Ni,Chloe M Reuter,John E Gorzynski,Sarah Fazal,Devon Bonner,Rachel A Ungar,Pagé C Goddard,Archana Raja,Euan A Ashley,Jonathan A Bernstein,Stephan Zuchner,Undiagnosed Diseases Network,Michael D Greicius,Stephen B Montgomery,Michael C Schatz,Matthew T Wheeler,Alexis Battle

medRxiv : the preprint server for health sciences (2024)

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Novel Syndromic Neurodevelopmental Disorder Caused by De Novo Deletion of CHASERR, a Long Noncoding RNA

medRxiv the preprint server for health sciences (2024)

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Loss of Symmetric Cell Division of Apical Neural Progenitors Drives DENND5A-related Developmental and Epileptic Encephalopathy

Emily Banks,Vincent Francis,Sheng-Jia Lin,Fares Kharfallah,Vladimir Fonov,Maxime Lévesque,Chanshuai Han,Gopinath Kulasekaran,Marius Tuznik,Armin Bayati,Reem Al-Khater,Fowzan S Alkuraya,Loukas Argyriou,Meisam Babaei,Melanie Bahlo, Behnoosh Bakhshoodeh,Eileen Barr,Lauren Bartik,Mahmoud Bassiony,Miriam Bertrand,Dominique Braun,Rebecca Buchert,Mauro Budetta,Maxime Cadieux-Dion,Daniel G Calame,Heidi Cope, Donna Cushing,Stephanie Efthymiou,Marwa Abd Elmaksoud,Huda G El Said,Tawfiq Froukh, Harinder K Gill,Joseph G Gleeson, Laura Gogoll,Elaine S-Y Goh, Vykuntaraju K Gowda,Tobias B Haack,Mais O Hashem,Stefan Hauser,Trevor L Hoffman,Jacob S Hogue, Akimoto Hosokawa,Henry Houlden,Kevin Huang,Stephanie Huynh,Ehsan G Karimiani,Silke Kaulfuß,G Christoph Korenke,Amy Kritzer,Hane Lee,James R Lupski,Elysa J Marco,Kirsty McWalter,Arakel Minassian,Berge A Minassian,David Murphy,Juanita Neira-Fresneda,Hope Northrup,Denis M Nyaga,Barbara Oehl-Jaschkowitz,Matthew Osmond,Richard Person,Davut Pehlivan,Cassidy Petree,Lynette G Sadleir,Carol Saunders,Ludger Schoels,Vandana Shashi,Rebecca C Spillmann,Varunvenkat M Srinivasan, Paria N Torbati,Tulay Tos,Undiagnosed Diseases Network,Maha S Zaki,Dihong Zhou,Christiane Zweier,Jean-François Trempe,Thomas M Durcan,Ziv Gan-Or,Massimo Avoli,Cesar Alves,Gaurav K Varshney,Reza Maroofian,David A Rudko,Peter S McPherson

Nature Communicationsno. 1 (2024): 1-22

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P428: De Novo Truncating Variants in ZNF865: A Putative Cause of a Neurodevelopmental Disorder

Sam Bradbrook,Gail Graham,Melissa Carter,Maria Kibaek,Martin Larsen,Christina Fagerberg, Katherine Dawson, Cheryl Meuter,Alexander Pepler,Thomas Besnard,Bertrand Isidor,Stéphane Bezieau,Benjamin Cogné,Marie Vincent, Katherine Bjorgo,Thomas Courtin,Lisa Emrick,Jill Rosenfeld,Undiagnosed Diseases Network,Julian Martinez-Agosto

Genetics in Medicine Open (2024): 101322

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Joint, Multifaceted Genomic Analysis Enables Diagnosis of Diverse, Ultra-Rare Monogenic Presentations

Shilpa Nadimpalli Kobren, Mikhail A Moldovan,Rebecca Reimers, Daniel Traviglia, Xinyun Li, Danielle Barnum,Alexander Veit,Rosario I Corona, George de V Carvalho Neto, Julian Willett,Michele Berselli,William Ronchetti,Stanley F Nelson, Julian A Martinez-Agosto,Richard Sherwood,Joel Krier,Isaac S Kohane,Undiagnosed Diseases Network,Shamil R Sunyaev

bioRxiv the preprint server for biology (2024)

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