ArticleScience advances2021
Pathogenic variants in
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Article in Science advances, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
0numbers the graph read from it
0cells of the map it votes in
27citing papers in PubMed
2.2field-weighted citation impact, top 11% of its field
What it found
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Who cites it
27 citing papers in PubMed, 32 citations in OpenAlex.
- A KDM5 variant outside the catalytic Jumonji C domain disrupts demethylase activity and alters the proximity interactome.G3 (Bethesda, Md.) · 2026Article
- De novo heterozygous variants of the RSF1 gene are responsible for a syndromic neurodevelopmental disorder.European journal of human genetics : EJHG · 2026Article
- Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions.Acta neuropathologica communications · 2026Article
- From chromatin to proteostasis: multilevel gene regulation in Mendelian diseases.Frontiers in epigenetics and epigenomics · 2026Review
- Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition.Nature communications · 2025Article
- The integration of WGCNA and ceRNA analysis provides insights into bovine intramuscular fat deposition.BMC genomics · 2025Article
- Genome-wide analysis identifies novel shared loci between depression and white matter microstructure.Molecular psychiatry · 2025Article
- It Takes a Village of Chromatin Remodelers to Regulate rDNA Expression.International journal of molecular sciences · 2025Review
- Spatial regulation of NSUN2-mediated tRNA m5C installation in cognitive function.Nucleic acids research · 2025Article
- USP3 promotes DNA damage response and chemotherapy resistance through stabilizing and deubiquitinating SMARCA5 in prostate cancer.Cell death & disease · 2024Article
- SMARCA5-mediated chromatin remodeling is required for germinal center formation.The Journal of experimental medicine · 2024Article
- Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.Nature genetics · 2024Article
- Article
- Micropillar arrays, wide window acquisition and AI-based data analysis improve comprehensiveness in multiple proteomic applications.Nature communications · 2024Article
- Biochemical and cellular insights into the Baz2B protein, a non-catalytic subunit of the chromatin remodeling complex.Nucleic acids research · 2024Article
- WRN loss accelerates abnormal adipocyte metabolism in Werner syndrome.Cell & bioscience · 2024Article
- Spliceosome malfunction causes neurodevelopmental disorders with overlapping features.The Journal of clinical investigation · 2024Article
- Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disorders.Nature communications · 2023Article
- Relating enhancer genetic variation across mammals to complex phenotypes using machine learning.Science (New York, N.Y.) · 2023Article
- Identification of Chromatin Regulatory Factors Related to Immunity and Treatment of Alzheimer's Disease.Journal of molecular neuroscience : MN · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
38 authors at 19 institutions in 6 countries.
Dong LiCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. lid2@email.chop.edu songy2@email.chop.edu.ORCID 0000-0002-2265-6727
Qin WangRaymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
Naihua N GongDepartment of Psychiatry, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0003-2107-0166
Alina KurolapThe Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.ORCID 0000-0002-7005-3621
Hagit Baris FeldmanThe Genetics Institute, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.ORCID 0000-0003-4065-7560
Nikolas BoyDivision of Child Neurology and Metabolic Medicine, Center for Child and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.ORCID 0000-0001-7665-6602
Melanie BruggerInstitute of Human Genetics, Technical University Munich, Munich, Germany.ORCID 0000-0002-6920-8550
Katheryn GrandDepartment of Pediatrics, Cedars-Sinai Medical Center, Los Angeles, CA, USA.ORCID 0000-0002-9411-2913
Kirsty McWalterGeneDx, Gaithersburg, MD, USA.ORCID 0000-0002-1654-9036
Maria J Guillen SacotoGeneDx, Gaithersburg, MD, USA.ORCID 0000-0003-3772-8815
Emma WakelingNorth East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.ORCID 0000-0001-5712-0044
Jane HurstNorth East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Michael E MarchCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0001-9173-6862
Elizabeth J BhojCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0001-5748-3507
Małgorzata J M NowaczykDepartment of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada.
Claudia Gonzaga-JaureguiRegeneron Genetics Center, Tarrytown, New York, NY, USA.ORCID 0000-0002-4667-3679
Mariam MathewInstitute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Ashita Dava-WalaInstitute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.
Amy SiemonDepartment of Pediatrics and Clinical Genetics, Nationwide Children's Hospital, Columbus, OH, USA.
Dennis BartholomewDepartment of Pediatrics and Clinical Genetics, Nationwide Children's Hospital, Columbus, OH, USA.ORCID 0000-0002-3971-1948
Yue HuangDepartment of Human Genetics; Division of Medical Genetics, Department of Pediatrics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.ORCID 0000-0002-6088-9273
Hane LeeDepartment of Pathology and Laboratory Medicine; Department of Human Genetics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.ORCID 0000-0002-4736-0412
Julian A Martinez-AgostoDepartment of Human Genetics; Division of Medical Genetics, Department of Pediatrics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.ORCID 0000-0001-6776-6949
Eva M C SchwaiboldDepartment of Pathology and Laboratory Medicine; Department of Human Genetics; David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA, USA.ORCID 0000-0003-2708-9642
Theresa BrunetInstitute of Human Genetics, Technical University Munich, Munich, Germany.ORCID 0000-0002-5183-780X
Daniela ChoukairDivision of Paediatric Endocrinology and Diabetes, Department of Paediatrics, University Hospital Heidelberg, Heidelberg, Germany.
Lynn S PaisBroad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge, MA, USA.
Susan M WhiteVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
John ChristodoulouVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.ORCID 0000-0002-8431-0641
Dana BrownDivision of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ, USA.ORCID 0000-0002-3123-6759
Kristin LindstromDivision of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ, USA.
Theresa GrebeDivision of Genetics and Metabolism, Phoenix Children's Hospital, Phoenix, AZ, USA.
Dov TiosanoPediatric Endocrinology Unit, Ruth Rappaport Children's Hospital, Rambam Healthcare Campus, Haifa, Israel.
Matthew S KayserDepartment of Psychiatry, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA.ORCID 0000-0003-2359-4967
Tiong Yang TanVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Australia.
Matthew A DeardorffDepartments of Pathology and Pediatrics, Children's Hospital Los Angeles, and University of Southern California, Los Angeles, CA, USA.ORCID 0000-0002-1542-1305
Yuanquan SongRaymond G. Perelman Center for Cellular and Molecular Therapeutics, Children's Hospital of Philadelphia, Philadelphia, PA, USA. lid2@email.chop.edu songy2@email.chop.edu.ORCID 0000-0001-7699-2059
Hakon HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.ORCID 0000-0003-2814-7461
Children's Hospital of Philadelphia · USNationwide Children's Hospital · USUniversity of California, Los Angeles · USThe University of Melbourne · AUGreat Ormond Street Hospital for Children NHS Foundation Trust · GBHeidelberg University · DEPhoenix Children's Hospital · USUniversity of Pennsylvania · USBroad Institute · USCedars-Sinai Medical Center · USChildren's Hospital of Los Angeles · USGoethe Institut · DEMcMaster University · CARegeneron (United States) · USTechnical University of Munich · DETechnion – Israel Institute of Technology · ILTel Aviv Sourasky Medical Center · ILTel Aviv University · ILUniversity of Phoenix · US
Funding
Joint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5MTraining in Sleep & Sleep DisordersT32HL007953 · NHLBI · UNIVERSITY OF PENNSYLVANIA · PI David Menassah Raizen, AMY M SAWYER · 2000 to 2026
$10.6MA powerful web-based discovery platform for rare disease geneticsR01HG009141 · NHGRI · BROAD INSTITUTE, INC. · PI QUINLAN, AARON R, REHM, HEIDI L · 2017 to 2020
$2.9MBuilding brains in our sleep: A Drosophila larval platform for examining sleep and neurogenesisDP2NS111996 · NINDS · UNIVERSITY OF PENNSYLVANIA · PI KAYSER, MATTHEW S · 2018 to 2018
$2.4MNHGRI NIH HHS R01 HG009141NHGRI NIH HHS UM1 HG008900NHLBI NIH HHS T32 HL007953NINDS NIH HHS DP2 NS111996Wellcome Trust
Abstract
Intellectual disability encompasses a wide spectrum of neurodevelopmental disorders, with many linked genetic loci. However, the underlying molecular mechanism for more than 50% of the patients remains elusive. We describe pathogenic variants in
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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.