ArticlemedRxiv : the preprint server for health sciences2025
De novo variants in
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Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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59 authors.
Eric N AndersonDepartment of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA 15224, USA.ORCID 0000-0003-2533-8764
Stephan DrukewitzInstitute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.ORCID 0000-0003-2482-9342
Sukhleen KourDepartment of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA 15224, USA.ORCID 0000-0002-8068-5278
Anuradha V ChimataDepartment of Biology, University of Dayton, Dayton, OH, USA.ORCID 0000-0002-8499-7404
Deepa S RajanDepartment of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA 15224, USA.ORCID 0000-0001-5699-8541
Senta SchönnagelInstitute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.
Karen L StalsRoyal Devon & Exeter NHS Foundation Trust, Exeter Genomics Laboratory, Exeter EX2 5DW, UK.ORCID 0000-0002-3255-7044
Deirdre DonnellyNorthern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust/City Hospital, Belfast, Northern Ireland BT9 7AB, UK.ORCID 0000-0001-9389-9155
Siobhan O'SullivanNorthern Ireland Regional Genetics Centre, Belfast Health and Social Care Trust/City Hospital, Belfast, Northern Ireland BT9 7AB, UK.
John F MantovaniDivision of Child Neurology, Washington University School of Medicine, Mercy Kids Center for Neurodevelopment & Autism, St. Louis, MO 63110, USA.
Tiong Y TanVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
Zornitza StarkVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.ORCID 0000-0001-8640-1371
Pia ZacherEpilepsy Center Kleinwachau, 01454 Radeberg, Germany.ORCID 0000-0002-0211-5763
Nicolas ChatronDepartment of Medical Genetics, University Hospital of Lyon, 69007 Lyon, France.ORCID 0000-0003-0538-0981
Pauline MoninDepartment of Medical Genetics, University Hospital of Lyon, 69007 Lyon, France.
Severine DrunatDepartment of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR 1141, Paris, France.ORCID 0000-0002-6777-4639
Yoann VialDepartment of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR 1141, Paris, France.ORCID 0000-0003-1437-0427
Xenia LatypovaDepartment of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR 1141, Paris, France.
Jonathan LevyDepartment of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR 1141, Paris, France.
Alain VerloesDepartment of Genetics, APHP-Robert DEBRE University Hospital, Sorbonne Paris-Cité University, and INSERM UMR 1141, Paris, France.ORCID 0000-0003-4819-0264
Jennefer N CarterStanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305. USA.ORCID 0000-0003-0830-3535
Devon E BonnerStanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305. USA.ORCID 0000-0002-8771-0886
Suma P ShankarDepartments of Pediatrics & Ophthalmology, Genomic Medicine, University of California Davis Health, Sacramento, CA 95817.ORCID 0000-0001-7100-5691
Jonathan A BernsteinStanford Center for Undiagnosed Diseases, Stanford University, Stanford, CA 94305. USA.ORCID 0000-0001-5369-346X
Julie S CohenDepartment of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA.ORCID 0000-0003-1545-0293
Anne ComiDepartment of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD 21205, USA.
Deanna Alexis CarereGeneDx, LLC, Gaithersburg, MD 20877, USA.
Lisa M DyerGeneDx, LLC, Gaithersburg, MD 20877, USA.
Sureni V MullegamaGeneDx, LLC, Gaithersburg, MD 20877, USA.
Pedro A Sanchez-LaraDepartment of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.ORCID 0000-0003-1181-7828
Katheryn GrandDepartment of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA.
Hyung-Goo KimDepartment of Neurosurgery, Robert Wood Johnson Medical School, Rutgers University, Piscataway, NJ 08854, USA.ORCID 0000-0003-4497-4686
Afif Ben-MahmoudNeurological Disorder Research Center, Qatar Biomedical Research Institute, Qatar Foundation, Hamad Bin Khalifa University, Doha, Qatar.ORCID 0000-0003-3520-8015
Sidney M GospeDepartments of Neurology and Pediatrics, University of Washington School of Medicine, Seattle, WA, USA.ORCID 0000-0002-0099-109X
Rebecca S BellesGeisinger Health System, Danville, PA 17821, USA.
Gary BellusGeisinger Health System, Danville, PA 17821, USA.ORCID 0000-0001-7492-3324
Klaske D LichtenbeltDepartment of Genetics, Utrecht University Medical Center, 3584 EA Utrecht, the Netherlands.ORCID 0000-0002-6370-9207
Renske OegemaDepartment of Genetics, Utrecht University Medical Center, 3584 EA Utrecht, the Netherlands.ORCID 0000-0002-7146-617X
Anita RauchInstitute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.ORCID 0000-0003-2930-3163
Ivan IvanovskiInstitute of Medical Genetics, University of Zurich, 8952 Schlieren, Zurich, Switzerland.ORCID 0000-0002-0113-783X
Frederic Tran Mau-ThemLaboratoire de Génomique médicale - Centre NEOMICS, CHU Dijon Bourgogne, F-21000, Dijon, France.ORCID 0000-0002-3795-9456
Aurore GardeLaboratoire de Génomique médicale - Centre NEOMICS, CHU Dijon Bourgogne, F-21000, Dijon, France.ORCID 0000-0003-3196-0453
Rachel RabinClinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, NY 10016, USA.ORCID 0000-0003-4906-7428
John PappasClinical Genetic Services, Department of Pediatrics, NYU School of Medicine, New York, NY 10016, USA.ORCID 0000-0001-5625-2598
Annette E BleyLeukodystrophy Clinic, University Children's Hospital, University Medical Center, 20246 Hamburg, Germany.ORCID 0000-0002-5514-0938
Janna BredowLeukodystrophy Clinic, University Children's Hospital, University Medical Center, 20246 Hamburg, Germany.ORCID 0009-0007-8003-9149
Timo WagnerMedizinische Genetik Mainz, Limbach Genetics GmbH, Mainz, Germany.
Eva DeckerMedizinische Genetik Mainz, Limbach Genetics GmbH, Mainz, Germany.
Carsten BergmannMedizinische Genetik Mainz, Limbach Genetics GmbH, Mainz, Germany.
Louis DomenachDepartment of Medical Genetics, MRGM INSERM U1211, Bordeaux University Hospital, University of Bordeaux, Bordeaux, France.
Henri MargotDepartment of Medical Genetics, MRGM INSERM U1211, Bordeaux University Hospital, University of Bordeaux, Bordeaux, France.ORCID 0000-0003-1353-0716
Undiagnosed Diseases Network
Johannes R LemkeInstitute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.ORCID 0000-0002-4435-6610
Rami Abou JamraInstitute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.ORCID 0000-0002-1542-1399
Julia HentschelInstitute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.ORCID 0000-0002-5706-1424
Heather MeffordCenter for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN 38105, USA.ORCID 0000-0001-7188-522X
Amit SinghDepartment of Biology, University of Dayton, Dayton, OH, USA.ORCID 0000-0002-2962-2255
Udai Bhan PandeyDepartment of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA 15224, USA.
Konrad PlatzerInstitute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany.ORCID 0000-0001-6127-6308
Funding
Sleep and Circadian Dysfunction, Brain and Neurobehavioral Development in AutismP50HD103538 · NICHD · HUGO W. MOSER RES INST KENNEDY KRIEGER · PI Stewart H Mostofsky · 2020 to 2026
$9.9MStanford Center for Undiagnosed DiseasesU01HG007708 · NHGRI · STANFORD UNIVERSITY · PI ASHLEY, EUAN A, BERNSTEIN, JONATHAN ADAM · 2014 to 2018
$8.0MWhat comes next? Engaging stakeholders in governance of participant data and relationships during the sunset of large genomic medicine research initiativesU01HG010218 · NHGRI · STANFORD UNIVERSITY · PI ASHLEY, EUAN A, BERNSTEIN, JONATHAN ADAM · 2018 to 2022
$6.3MNHGRI NIH HHS U01 HG007708NHGRI NIH HHS U01 HG010218NICHD NIH HHS P50 HD103538
Abstract
Germline variants that disrupt components of the epigenetic machinery cause syndromic neurodevelopmental disorders. Using exome and genome sequencing, we identified
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.