Pathogenic variants in the cohesin loader subunit MAU2 underlie a distinct Cornelia de Lange Syndrome subtype

Journal:

Nature Communications

Published:

2026-03-30

DOI:

10.1038/s41467-026-71177-6

Affiliations:

46

Authors:

56

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Institutions	Authors	Share
Essen University Hospital, Germany	11.000000 11.000000	0.20
King Faisal Specialist Hospital and Research Centre (KFSH&RC), Saudi Arabia	4.333333	0.08
Swiss Institute of Genomic Medicine (Medigenome), Switzerland	3.000000	0.05
Medical College of Wisconsin (MCW), United States of America (USA)	3.000000	0.05
Nagoya University, Japan	2.416667	0.04
London Health Sciences Centre (LHSC), Canada	2.000000	0.04
King Saud University Medical City (KSUMC), Saudi Arabia	2.000000	0.04
Hospital das Clínicas da FMUSP, Brazil	2.000000	0.04
Instituto de Investigación Sanitaria Aragón (IIS Aragón), Spain	1.750000	0.03
Biomedical Research Networking Center on Rare Diseases (CIBERER), Spain	1.750000	0.03
Institute for Basic Research in Developmental Disabilities (IBR), United States of America (USA)	1.666667	0.03
Boston Children's Hospital (BCH), United States of America (USA)	1.500000	0.03
Aichi Developmental Disability Center (ADDC), Japan	1.250000	0.02
Western University (UWO), Canada	1.000000	0.02
Genomic and Personalized Medicine in Cancer and Neurological disorders, France	1.000000	0.02
Rouen University Hospital-Charles Nicolle (CHU de Rouen), France	1.000000	0.02
Pará State University (UEPA), Brazil	1.000000	0.02
Lipids, Nutrition, Cancer (LNC), France	1.000000	0.02
Institut NeuroMyoGène (INMG), France	1.000000	0.02
University Hospitals of Strasbourg (HUS), France	1.000000	0.02
Nicklaus Children's Hospital, United States of America (USA)	1.000000	0.02
Nagoya City University, Japan	1.000000	0.02
The University of Arizona (Arizona), United States of America (USA)	1.000000	0.02
Erasmus University Medical Center (Erasmus MC), Netherlands	1.000000	0.02
Children’s Mercy Kansas City, United States of America (USA)	0.833333	0.01
University of Missouri-Kansas City (UMKC), United States of America (USA)	0.833333	0.01
Leibniz-Institute DSMZ-German Collection of Microorganisms and Cell Cultures (DSMZ), Germany	0.500000	0.01
Technical University Braunschweig (TU Braunschweig), Germany	0.500000	0.01
Massachusetts General Hospital (MGH), United States of America (USA)	0.500000	0.01
Illumina, United States of America (USA)	0.500000	0.01
Washington University in St. Louis (WUSTL), United States of America (USA)	0.500000	0.01
Cleveland Clinic Abu Dhabi, United Arab Emirates	0.500000	0.01
Cleveland Clinic Lerner College of Medicine of Case Western Reserve University (CCLCM), United States of America (USA)	0.500000	0.01
Lifera, Saudi Arabia	0.333333	0.01
Alfaisal University, Saudi Arabia	0.333333	0.01
University of Bristol (UoB), United Kingdom (UK)	0.333333	0.01
The Graduate Center of the City University of New York (CUNY Graduate Center), United States of America (USA)	0.333333	0.01
The University of Kansas (KU), United States of America (USA)	0.333333	0.01
Hospital Clínico Universitario Lozano Blesa, Spain	0.250000	0.00
University of Zaragoza (Unizar), Spain	0.250000	0.00

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