Evidence map›Paper›PMID 41810376›Full record

ArticlemedRxiv : the preprint server for health sciences2026

Clinical,

Philip M Boone, Serkan Erdin, Abucar Mohamed, Sadegheh Haghshenas, Kamli N W Faour, Emeline Kao, Jack Fu, Chiara Auwerx, Ricardo Harripaul, Bimal Jana and 141 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

151 authors.

Philip M BooneDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.
Serkan ErdinCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Abucar MohamedSection on Epigenetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, US.
Sadegheh HaghshenasVerspeeten Clinical Genome Centre, LHSC, London, CA.
Kamli N W FaourDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.
Emeline KaoInstitutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US.
Jack FuCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Chiara AuwerxCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Ricardo HarripaulCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Bimal JanaCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Danielle SpringerMurine Phenotyping Core Facility, National Heart Lung and Blood Institute, Bethesda, MD, US.
Grey HallstromEpigenetics Institute, University of Pennsylvania School of Medicine, Philadelphia, PA, US.
Celine E F de EschCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Erica DenhoffInstitutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US.
Lauren HolmesInstitutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US.
Kiana MohajeriCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
John LemanskiCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Jennifer KerkhofVerspeeten Clinical Genome Centre, LHSC, London, CA.
Haley McConkeyVerspeeten Clinical Genome Centre, LHSC, London, CA.
Jessica RzasaVerspeeten Clinical Genome Centre, LHSC, London, CA.
Madison J McCuneCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Michael A LevyVerspeeten Clinical Genome Centre, LHSC, London, CA.
Julia GrafsteinSection on Epigenetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, US.
Matthew LarsonCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Zsabre WrightCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Roberta L BeauchampCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Diane LucenteCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Rami Abou JamraUniversity of Leipzig Medical Center, Leipzig, DE.
Neena AgrawalPediatric Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, US.
Pankaj AgrawalThe Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, US.
Erica F AndersenARUP Laboratories, Salt Lake City, UT, US.
Emanuela ArgilliUniversity of California, San Francisco, CA, US.
Renee AraizaMutant Mouse Resource and Research Center, University of California, Davis, CA, US.
Sonia BallalCornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.
Megan F BaxterCentre for Human Genetics and Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK.
Gaber BergantClinical Institute for Genomic Medicine, UMC Ljubljana, Ljubljana, SI.
Astrid BertscheDepartment of Pediatric Neurology and Inherited Metabolic Diseases, University Medicine Greifswald, Greifswald, DE.
Riya BhavsarCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Debora R BortolaHuman Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology of the Institute of Biosciences, Universidade of São Paulo, Sao Paulo-SP, BR.
Viktoria BotheUniversity of Leipzig Medical Center, Leipzig, DE.
Charlotte Brasch-AndersenDepartment of Clinical Genetics, Odense University Hospital, Odense, DK.
Dominique BraunDepartment of Human Genetics, Inselspital Bern, University of Bern, Bern, CH.
Ange-Line BruelUniversité 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, FR.
Catherine BuchananDell Children's Medical Group, Austin, TX, US.
Nicholas D BurtCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Laura M L CarvalhoHuman Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology of the Institute of Biosciences, Universidade of São Paulo, Sao Paulo-SP, BR.
Luigi ChiriattiMolecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, IT.
Benjamin CogneService de Génétique Médicale, CHU Nantes, Nantes Université, CNRS, INSERM, l'institut du thorax, Nantes, FR.
Ryan CollinsCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Amy CrunkGeneDx, LLC, Gaithersburg, MD, US.
Benjamin CurrallCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Andree Delahaye-DuriezUnité de médecine génomique et génétique clinique, Hôpital Jean Verdier, Assistance Publique, Hôpitaux de Paris, Paris, FR.
Julian DelanneInserm, 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, FHU TRANSLAD, Equipe GAD INSERM UMR1231, Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, Dijon, FR.
Anne-Sophie Denommé-PichonUniversité 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, FR.ORCID 0000-0002-8986-8222
Koenraad DevriendtUZ Leuven, Leuven, BE.
Aloysius DomingoCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Laura DuncanMedical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, US.
Laurence FaivreInserm, 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, FHU TRANSLAD, Equipe GAD INSERM UMR1231, Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, Dijon, FR.
Laura FamularoPediatric Genetics, University of Virginia School of Medicine, Charlottesville, VA, US.
Anne FultonCornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.
Casie GenettiThe Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, US.
Tamar HarelDepartment of Genetics, Hadassah Medical Center, Jerusalem, IL.
Marketa HavlovicovaDepartment of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol and Homolka University Hospital, Prague, CZ.
Jenny HiggsLiverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK.
Marine HoulierAssistance Publique, Hôpitaux de Paris, Paris, FR.
Maria IasconeMedical Genetics Lab, ASST Papa Giovanni XXIII, Bergamo, IT.
LaDonna ImmkenDell Children's Medical Group, Austin, TX, US.
Bertrand IsidorCHU Nantes, Nantes Université, CNRS, INSERM, l'institut du thorax, Nantes, FR.
Frank J KaiserInstitute of Human Genetics, University Hospital Essen, Essen, DE.
Kaycee KarboneDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.
Margaret KennaCornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.
Amjad KhanFaculty of Biological Sciences, Department of Zoology, University of Lakki Marwat, Khyber, Pakhtunkhwa, PK.
Lara Kristina KimmigInstitute of Human Genetics, University Hospital Essen, Essen, DE.
Tjitske KleefstraRadboud University Medical Center, Nijmegen, NL.
Eva-Maria KrausInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, DE.
Ana C V KrepischiHuman Genome and Stem Cell Research Center, Department of Genetics and Evolutionary Biology of the Institute of Biosciences, Universidade of São Paulo, Sao Paulo-SP, BR.
Ilona KreyInstitute of Human Genetics, Hebrew University of Jerusalem, Jerusalem, IL.
Roger LaddaDepartment of Pediatrics, Penn State Health Children's Hospital, PA, US.
Louise LanoueMouse Biology Program, University of California, Davis, CA, US.
Cedric Le CaignecNantes University Hospital Center, Nantes, FR.
Zoe K LewisARUP Laboratories, Salt Lake City, UT, US.
Gloria LimaTCR2 Theraputics, Cambridge, MA, US.
Sally Ann LynchChildren's Health Ireland at Crumlin, Dublin, IE.
Milan MacekDepartment of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol and Homolka University Hospital, Prague, CZ.
Olivier MaierStiftung Ostschweizer Kinderspital, KER-Zentrum, St. Gallen, CH.
Silvia MaitzService of Medical Genetics, Oncologic Institute of Southern Switzerland, EOC, Lugano, CH.
Alison MaleGreat Ormond Street Hospital for Children, London, UK.
Marcela MalikovaDepartment of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol and Homolka University Hospital, Prague, CZ.
Victoria McKayLiverpool Women's NHS Foundation Trust, Liverpool, UK.
Oana MoldovanHospital de Santa Maria, CHULN, Hospital de Santa Maria, CHULN, Lisbon, PT.
Danielle MonteilNaval Medical Center, Portsmouth, VA, US.
Mariana Moysés OliveiraCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Jeeva MunasingheMouse Imaging Facility, National Institute of Neurological Disorders and Stroke, Bethesda, MD, US.
Sachiko NakamoriMurine Phenotyping Core Facility, National Heart Lung and Blood Institute, Bethesda, MD, US.
Sonja NeuserInstitute of Human Genetics, University of Leipzig Medical Center, Leipzig, DE.
Mathilde NizonService de Génétique Médicale, CHU Nantes, Nantes Université, CNRS, INSERM, l'institut du thorax, Nantes, FR.
Xander NuttleCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Kathryn O'KeefeCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Laura OrecHeidelberg University School of Medicine, Heidelberg, DE.
Ilaria ParentiInstitute of Human Genetics, University Hospital Essen, Essen, DE.
Borut PeterlinClinical Institute for Genomic Medicine, UMC Ljubljana, Ljubljana, SI.
Rolph PfundtRadboud University Medical Center, Nijmegen, NL.
Jill PounceyChildren's Hospital at Erlanger, Chattanooga, TN, US.
Francesca Clementina RadioMolecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, IT.
Leema RobertGuy's and St Thomas' Hospital, London, UK.
Lance RodanDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.
Hallel Rosenberg-FoglerDepartment of Genetics, Hadassah Medical Center, Jerusalem, IL.
Jill A RosenfeldBaylor College of Medicine, Houston, TX, US.
Hana SafraouUniversité 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, FR.
Monica SalaniCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Sophia SchliesskeUniversity of Leipzig Medical Center, Leipzig, DE.
Eleanor G SeabyTranslational Genomics Group, Broad Institute of Harvard and MIT, Boston, MA, US.
Susan SellDepartment of Pediatrics, Penn State Health Children's Hospital, Hershey, PA, US.
A Eliot ShearerCornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.
Elliott SherrUniversity of California, San Francisco, CA, US.
Amelle ShillingtonCincinnati Children's Hospital Medical Center, Cincinnati, OH, US.
Dorothea SieboldVanderbilt University Medical Center, Nashville, TN, US.
Margje SinnemaMaastricht University Medical Center+, Maastricht, NL.
Laura SmithCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Alexander P A StegmannMaastricht University Medical Center+, Maastricht, NL.ORCID 0000-0002-9736-7137
Cathy StevensUniversity of Tennessee College of Medicine, Chattanooga, TN, US.
Servi StevensMaastricht University Medical Center+, Maastricht, NL.
Eric SuretteBoston College, Newton, MA, US.
Marco TartagliaMolecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, IT.
Jenny C TaylorCentre for Human Genetics and Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK.
Michelle L ThompsonHudsonAlpha Institute for Biotechnology, Huntsville, AL, US.
Pernille M TørringOdense University Hospital, Odense, DK.
Frederic Tran Mau ThemUniversité 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, FR.
Olga TsoulakiManchester University Hospitals Foundation Trust, Manchester, UK.
Muhammad UmairDepartment of Life Sciences, School of Science, University of Management and Technology, Lahore, PK.
Els VanhoutteMaastricht University Medical Center+, Maastricht, NL.
Marie VincentService de Génétique Médicale, CHU Nantes, Nantes Université, CNRS, INSERM, l'institut du thorax, Nantes, FR.
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, FR.ORCID 0000-0003-3717-8374
Lydia von WintzingerodeUniversity of Leipzig Medical Center, Leipzig, DE.
Amy WattTCR2 Therapeutics, Cambridge, MA, US.
Marketa WayhelovaDepartment of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol and Homolka University Hospital, Prague, CZ.
Ingrid M WentzensenGeneDx, LLC, Gaithersburg, MD, US.
William WilsonPediatric Genetics, University of Virginia School of Medicine, Charlottesville, VA, US.
Monica H WojcikDivision of Newborn Medicine, Boston Children's Hospital, Boston, MA, US.ORCID 0000-0002-8162-5031
Bo YuanBaylor College of Medicine, Houston, TX, US.ORCID 0000-0001-7278-5116
Giuseppe ZampinoCenter for Rare Diseases, Department of Human and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, Rome, IT.
Siddharth SrivastavaCornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.
Dominik S WestphalDepartment of Human Genetics, Landeskrankenhaus University Hospital, Paracelsus Medical University, Salzburg, AT.
Korbinian M RiedhammerInstitute of Human Genetics, Klinikum rechts der Isar, School of Medicine and Health, Technical University of Munich, Munich, DE.ORCID 0000-0002-7503-5801
Eric JoyceEpigenetics Institute, University of Pennsylvania School of Medicine, Philadelphia, PA, US.
Rachita YadavCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.ORCID 0000-0003-2123-5223
James GusellaCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Derek J C TaiCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Bekim SadikovicVerspeeten Clinical Genome Centre, LHSC, London, CA.
Karl E PfeiferSection on Epigenetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, US.
Michael E TalkowskiCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.ORCID 0000-0003-2889-0992

Funding

RAPID GENE DISCOVERYP01GM061354 · NIGMS · BRIGHAM AND WOMEN'S HOSPITAL · PI MORTON, CYNTHIA CASSON · 2001 to 2019
$24.3M
University of Washington Mendelian Genomics Research Center (UW-MGRC)U01HG011744 · NHGRI · UNIVERSITY OF WASHINGTON · PI MICHAEL Joseph BAMSHAD, Evan Eichler · 2021 to 2026
$15.8M
Broad Institute Mendelian Genomic Research CenterU01HG011755 · NHGRI · BROAD INSTITUTE, INC. · PI Anne O'Donnell-Luria, MICHAEL E TALKOWSKI · 2021 to 2026
$14.6M
TRAINING GRANT IN GENETICST32GM007748 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI Anne O'Donnell-Luria, Louise Wilkins-Haug · 1985 to 2026
$12.0M
South-seq: DNA sequencing for newborn nurseries in the SouthU01HG007301 · NHGRI · HUDSON-ALPHA INSTITUTE FOR BIOTECHNOLOGY · PI BARSH, GREGORY STEFAN, COOPER, GREGORY MICHAEL · 2017 to 2021
$11.9M
Clinical Diagnostic Sequencing of Structural VariationR01HD081256 · NICHD · MASSACHUSETTS GENERAL HOSPITAL · PI TALKOWSKI, MICHAEL E · 2015 to 2025
$7.2M
Scalable tool and comprehensive maps to interpret structural variation across the neuropsychiatric spectrumR01MH115957 · NIMH · BROAD INSTITUTE, INC. · PI TALKOWSKI, MICHAEL E · 2019 to 2025
$5.4M
Defining the Disorders of Genome OrganizationK08NS117891 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI BOONE, PHILIP MICHAEL · 2020 to 2024
$988k
NHGRI NIH HHS U01 HG007301NHGRI NIH HHS U01 HG011744NHGRI NIH HHS U01 HG011755NICHD NIH HHS R01 HD081256NIGMS NIH HHS P01 GM061354NIGMS NIH HHS T32 GM007748NIMH NIH HHS R01 MH115957NINDS NIH HHS K08 NS117891Wellcome Trust
6 · The paper itself

Abstract

Cohesin is a fundamental genome-organizing complex that orchestrates three-dimensional chromosome folding and gene expression via DNA loop extrusion. Alterations to genes encoding cohesin subunits and cohesin loaders cause Mendelian disorders, including Cornelia de Lange syndrome (CdLS). By contrast, disruption of factors that remove cohesin from DNA, including

Indexed as

cohesin release factorPDS5APDS5BtranscriptionWAPL

Identifiers

PMID41810376
PMCPMC12970359

What OpenQuestion holds

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Read underepoch 390

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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.