ArticlemedRxiv : the preprint server for health sciences2025
Pathogenic variants in the cohesin loader subunit MAU2 lead to a new Cornelia de Lange Syndrome subtype.
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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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56 authors.
Ilaria ParentiInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.ORCID 0000-0002-1825-6237
Alina HestersInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
Marta Gil-SalvadorUnit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, CIBERER and IIS-Aragon, 50009 Zaragoza, Spain.
Laura DuffyVerspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.
Deniz KanberInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
Jasmin BeygoInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
Jennifer KerkhofVerspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.
Laura SteenpaßHuman and Animal Cell Lines, Leibniz-Institute DSMZ-German Collection of Microorganisms and Cell Cultures GmbH, Inhoffenstraße 7B, 38124, Braunschweig, Germany.
Elsa LeitãoInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
Julia WoestefeldInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
Philip M BooneDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.
Emeline M KaoInstitutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, USA.
Lama AlabdiDepartment of Translational Genomics (Genomic Medicine Centre of Excellence (GMCoE)), King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
Hesham M AldhalaanAutism Department King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
Fowzan S AlkurayaDepartment of Translational Genomics (Genomic Medicine Centre of Excellence (GMCoE)), King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
Muneera J AlshammariDepartment of Pediatrics, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.
Stylianos E AntonarakisMedigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.
Donald BaselDivision of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
Kevin CassinariUniv Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, F-76000 Rouen, France.
Laurana de Polli CellinGenetic Endocrinology Unit, Endocrinology Division, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, SP, Brazil.
Amanda R ClauseIllumina Laboratory Services, Illumina Inc., San Diego, CA, USA.
Alexander Augusto de Lima JorgeGenetic Endocrinology Unit, Endocrinology Division, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo (HC-FMUSP), São Paulo, SP, Brazil.
Andréa de Castro LealDepartment of Integrated Health, State University of Para, Santarem 68010-200, Brazil.
Stephan C CollinsUniversité Bourgogne-Europe, Dijon, France, Inserm U1231, Dijon, France.
Benjamin DurandService de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, Strasbourg, France.
Juliane EckholdInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
Mais O HashemDepartment of Translational Genomics (Genomic Medicine Centre of Excellence (GMCoE)), King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
Parul JayakarDivision of Genetics & Metabolism, Nicklaus Children's Hospital, Miami, Florida, USA.
Arif O KhanOphthalmology, Integrated Surgical Institute, Cleveland Clinic Abu Dhabi, Abu Dhabi, UAE.
Kohji KatoSchool of Biochemistry, Faculty of Life Sciences, University of Bristol, Bristol, UK.
Regina KubicaInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
Gholson J LyonDepartment of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY, 10314, USA.
Elaine MarchiDepartment of Human Genetics, NYS Institute for Basic Research in Developmental Disabilities, 1050 Forest Hill Road, Staten Island, NY, 10314, USA.
Julie McCarrierDivision of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
Lara K KimmigInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
Seiji MizunoDepartment of Pediatrics, Aichi Developmental Disability Center, Kasugai, Japan.
Gael NicolasUniv Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and Reference Center for Developmental Disorders, F-76000 Rouen, France.
Yosuke NishioDepartment of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Tomoo OgiDepartment of Genetics, Research Institute of Environmental Medicine, Nagoya University, Nagoya, Japan.
Juan PiéUnit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, CIBERER and IIS-Aragon, 50009 Zaragoza, Spain.
Jordyn PrellDivision of Genetics, Department of Pediatrics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA.
Beatriz PuisacUnit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, CIBERER and IIS-Aragon, 50009 Zaragoza, Spain.
Feliciano J RamosUnit of Clinical Genetics and Functional Genomics, Department of Pharmacology and Physiology, School of Medicine, University of Zaragoza, CIBERER and IIS-Aragon, 50009 Zaragoza, Spain.
Emmanuelle RanzaMedigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.
Claire RedinMedigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland.
Eric RushDivision of Clinical Genetics, Children's Mercy Kansas City, University of Missouri Kansas City School of Medicine, Kansas City, MO, USA.
Shinji SaitohDepartment of Pediatrics and Neonatology, Nagoya City University Graduate School of Medical Sciences and Medical School, Nagoya, Japan.
Hanan E ShamseldinDepartment of Translational Genomics (Genomic Medicine Centre of Excellence (GMCoE)), King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
Susan StarlingDivision of Clinical Genetics, Children's Mercy Kansas City, University of Missouri Kansas City School of Medicine, Kansas City, MO, USA.
Esteban Astiazaran-SymondsDepartment of Medicine, College of Medicine-Tucson, University of Arizona, Tucson, AZ, USA.
Sara TaherDepartment of Pediatrics, King Saud University Medical City, King Saud University, Riyadh, Saudi Arabia.
Alma KuechlerInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
Bekim SadikovicVerspeeten Clinical Genome Centre, London Health Science Centre, London, ON N6A 5W9, Canada.
Binnaz YalcinUniversité Bourgogne-Europe, Dijon, France, Inserm U1231, Dijon, France.
Kerstin S WendtErasmus Medical Centre, Department of Developmental Biology, Rotterdam, The Netherlands.
Frank J KaiserInstitute of Human Genetics, University Hospital Essen, University of Duisburg-Essen, Essen, Germany.
Funding
Defining the Disorders of Genome OrganizationK08NS117891 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI BOONE, PHILIP MICHAEL · 2020 to 2024
$988kNINDS NIH HHS K08 NS117891
Abstract
The role of the cohesin complex depends on the cohesin loader proteins NIPBL and MAU2. While
Indexed as
Cohesin loaderCornelia de Lange SyndromeepisignaturesMAU2NIPBL
Identifiers
What Socratic holds
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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 Socratic graph.