ArticleAmerican journal of human genetics2026
Androgens mediate sexual dimorphism in Pilarowski-Bjornsson syndrome.
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Article in American journal of human genetics, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2citing papers in PubMed
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2 citing papers in PubMed.
- Molecular Acrobats: How CHD Remodelers Shape the Genetic Playground to License Cell Identity.BioEssays : news and reviews in molecular, cellular and developmental biology · 2026Review
- Sex Distributions in the Most Frequent Autosomal Genetic Causes of Retinitis Pigmentosa.Investigative ophthalmology & visual science · 2025Article
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Authors and funding
69 authors.
Kimberley Jade AndersonDepartment of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland; School of Health, Business and Natural Sciences, Faculty of Natural Resource Sciences, University of Akureyri, Akureyri, Iceland.
Eirny Tholl ThorolfsdottirDepartment of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland.
Ilana M NodelmanT.C. Jenkins Department of Biophysics, Johns Hopkins University, Baltimore, MD, USA.
Sara Tholl HalldorsdottirDepartment of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland; The Louma G. Laboratory of Epigenetic Research, Faculty of Medicine, University of Iceland, Reykjavik, Iceland.
Stefania BenonisdottirInstitute of Physical Sciences, University of Iceland, Reykjavik, Iceland; Leverhulme Centre for Demographic Science, Nuffield Department of Population Health, University of Oxford and Nuffield College, Oxford, UK.
Malak A AlghamdiMedical Genetics Division, Pediatric Department, College of Medicine, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.
Naif A M AlmontashiriCenter for Genetics and Inherited Diseases and Faculty of Applied Medical Sciences, Taibah University, Almadinah Almunwarah, Saudi Arabia; Research Department, King Khaled Eye Specialist Hospital, Riyadh, Saudi Arabia.
Brenda J BarryF.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Howard Hughes Medical Institute, Chevy Chase, MD, USA.
Matthias BegemannInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Jacquelyn F BrittonMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Sarah BurkeMunroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA.
Benjamin CogneNantes Université, CHU de Nantes, CNRS, INSERM, L'institut Du Thorax, 44000 Nantes, France; Nantes Université, CHU de Nantes, Service de Génétique Médicale, 44000 Nantes, France.
Ana S A CohenDepartment of Pathology and Laboratory Medicine, Genomic Medicine Center, Children's Mercy-Kansas City, Kansas City, MO, USA; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.
Carles de Diego BoguñáServicio de Genética, Hospital Universitario de Toledo, Toledo, Spain.
Evan E EichlerHoward Hughes Medical Institute, University of Washington, Seattle, WA, USA; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Elizabeth C EngleF.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Howard Hughes Medical Institute, Chevy Chase, MD, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
Jill A FahrnerMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Laurence FaivreUniversité Bourgogne Europe, CHU Dijon Bourgogne, Inserm, CTM UMR1231, équipe GAD, FHU TRANSLAD, Centre de Génétique, Centre de Référence Anomalies Du Développement et Syndromes Malformatifs, Centre de Référence Déficiences Intellectuelles de Causes Rares, et Centre de Référence GénoPsy, 21000 Dijon, France.
Mélanie FradinService de Genetique Medicale, Centre Labellisé Anomalies Du Développement de L'Ouest, CHU Rennes, Rennes, France.
Nico FuhrmannInstitute of Human Genetics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.
Christine W GaoMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Gunjan GargDepartment of Clinical Genetics, Liverpool Hospital, Sydney, NSW, Australia; Hunter Genetics, Waratah, NSW, Australia; School of Women's and Children's Health, University of New South Wales, Sydney, NSW, Australia.
Dagmar GrečmalováInstitute of Molecular and Clinical Pathology and Medical Genetics, University Hospital Ostrava, Ostrava, Czech Republic.
Mina GrippaSSD Medical Genetics, Maternal and Child Department, AOU Policlinico Modena, Modena, Italy.
Jacqueline R HarrisMcKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Kennedy Krieger Institute, Department of Neurology, Baltimore, MD, USA.
Kendra HoekzemaDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.
Tova HershkovitzThe Genetics Institute, Galilee Medical Center, Nahariya, Israel.
Sydney HubbardMunroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA.
Katrien JanssensCenter of Medical Genetics, University of Antwerp and Antwerp University Hospital, Antwerp, Belgium.
Julie A JurgensF.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Stanislav KmochResearch Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Cordula KnoppInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Meral Aktas KoptagelInstitute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.
Farah A LadhaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Pablo LapunzinaINGEMM-Institute of Medical and Molecular Genetics, IdiPAZ-CIBERER-Hospital Universitario La Paz, and ERNITHACA, Madrid, Spain.
Tobias LindauDepartment of Pediatrics, Gemeinschaftsklinikum Mittelrhein Kemperhof, Koblenzer Straße 115-155, 56073 Koblenz, Germany.
Marije MeuwissenResearch Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University, Prague, Czech Republic.
Andreina MinicucciIRCCS Azienda Ospedaliero-Universitaria di Bologna, U.O. Genetica Medica, 40138 Bologna, Italy.
Emily NeuhausDepartment of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA, USA.
Mathilde NizonService de Génétique Médicale, Unité de Génétique Clinique, Nantes, France.
Lenka NoskováDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Kristen ParkDepartments of Pediatrics and Neurology, University of Colorado School of Medicine and Children's Hospital Colorado, Aurora, CO, USA.
Chirag PatelGenetic Health Queensland, Royal Brisbane & Women's Hospital Campus, Herston, Brisbane, QLD, Australia.
Rolph PfundtDepartment of Human Genetics, Donders Institute, Radboud University Medical Center, Nijmegen, the Netherlands.
Pankaj PrasunDivision of Genetics, Department of Pediatrics, West Virginia School of Medicine, Morgantown, WV, USA.
Nils RahnerMVZ Institute for Clinical Genetics and Tumor Genetics, Bonn, Germany.
Nathaniel H RobinDepartment of Genetics, UAB Heersink School of Medicine, Birmingham, AL, USA.
Carey RonspiesDepartment of Pediatrics, University of Nebraska Medical Center, Omaha, NE, USA.
Jasmin RoohiDepartment of Genetics, Mid-Atlantic Permanente Medical Group, Washington, DC, USA.
Jill RosenfeldINGEMM-Institute of Medical and Molecular Genetics, IdiPAZ-CIBERER-Hospital Universitario La Paz, and ERNITHACA, Madrid, Spain; Baylor Genetics, Houston, TX, USA.
Margarita SaenzGenetic Health Queensland, Royal Brisbane & Women's Hospital Campus, Herston, Brisbane, QLD, Australia.
Carol SaundersDepartment of Pathology and Laboratory Medicine, Genomic Medicine Center, Children's Mercy-Kansas City, Kansas City, MO, USA; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.
Zornitza StarkVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Flemington Road, Parkville, VIC, Australia.
Isabelle ThiffaultDepartment of Pathology and Laboratory Medicine, Genomic Medicine Center, Children's Mercy-Kansas City, Kansas City, MO, USA; The University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.
Sarah ThullDepartment of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Danita VelascoDepartment of Genetics, Mid-Atlantic Permanente Medical Group, Washington, DC, USA.
Clara VelmansDepartment of Molecular Biology and Genetics, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
Jolijn VerseputHuman Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.
Antonio VitobelloUniversité Bourgogne Europe, CHU Dijon Bourgogne, Laboratoire de Génomique Médicale, Centre Neomics, FHU TRANSLAD, Centre de Recherche Translationnelle en Médecine Moléculaire - Inserm UMR1231, équipe GAD, Dijon, France.
Tianyun WangDepartment of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing 100191, China; Neuroscience Research Institute, Peking University, Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing 100191, China; Autism Research Center, Peking University Health Science Center, Beijing 100191, China.
Karin WeissThe Genetics Institute, Rambam Health Care Campus, Haifa, Israel.
Ingrid M WentzensenGeneDx, LLC, Gaithersburg, MD 20877, USA.
Genay PilarowskiChan Zuckerberg Biohub, San Francisco, CA, USA.
Thor EysteinssonDepartment of Physiology, Faculty of Medicine, University of Iceland, Reykjavik, Iceland; Department of Ophthalmology, Landspitali University Hospital, Reykjavik, Iceland.
Madelyn GillentineIndependent Scientist, Seattle, WA, USA.
Kári StefánssonFaculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland.
Agnar HelgasonFaculty of Medicine, School of Health Sciences, University of Iceland, Reykjavik, Iceland; Department of Anthropology, University of Iceland, Reykjavik, Iceland.
Gregory D BowmanT.C. Jenkins Department of Biophysics, Johns Hopkins University, Baltimore, MD, USA.
Hans Tomas BjornssonDepartment of Genetics and Molecular Medicine, Landspitali University Hospital, Reykjavik, Iceland; The Louma G. Laboratory of Epigenetic Research, Faculty of Medicine, University of Iceland, Reykjavik, Iceland; McKusick-Nathans Department of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD, USA; Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA. Electronic address: htb@hi.is.
Funding
Structural and Functional Characterization of the Chd1 Chromatin RemodelerR01GM084192 · NIGMS · JOHNS HOPKINS UNIVERSITY · PI BOWMAN, GREGORY DEAN · 2008 to 2024
$6.3MNIGMS NIH HHS R01 GM084192Wellcome Trust
Abstract
Sex-specific penetrance in autosomal-dominant Mendelian conditions is largely understudied. The neurodevelopmental disorder Pilarowski-Bjornsson syndrome (PILBOS) was initially described in females. Here, we describe the clinical and genetic characteristics of the largest PILBOS cohort to date, showing that both sexes can exhibit PILBOS features, although males are overrepresented. A mouse model carrying a human-derived Chd1 missense variant (Chd1
Indexed as
AndrogensSex CharacteristicsAnimalsDisease Models, AnimalDNA-Binding ProteinsFemaleHumansMaleMiceMutation, MissenseOrchiectomyPhenotypeTestosteroneAndrogensDNA-Binding ProteinsTestosteroneCHD1Mendelian diseaseneurodevelopmental disordersex differences
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