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Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

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Title: Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.
Authors: Boone PM; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Boston, MA, US., Erdin S; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Boston, MA, US., Mohamed A; Section on Epigenetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, US., Haghshenas S; Verspeeten Clinical Genome Centre, LHSC, London, CA., Faour KNW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US., Kao E; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US., Fu J; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US., Auwerx C; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Boston, MA, US.; Department of Neurology, Harvard Medical School, Boston, MA, US., Harripaul R; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US., Jana B; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US., Springer D; Murine Phenotyping Core Facility, National Heart Lung and Blood Institute, Bethesda, MD, US., Hallstrom G; Epigenetics Institute, University of Pennsylvania School of Medicine, Philadelphia, PA, US., de Esch CEF; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US., Denhoff E; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US., Holmes L; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US., Mohajeri K; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US., Lemanski J; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US., Kerkhof J; Verspeeten Clinical Genome Centre, LHSC, London, CA., McConkey H; Verspeeten Clinical Genome Centre, LHSC, London, CA., Rzasa J; Verspeeten Clinical Genome Centre, LHSC, London, CA., McCune MJ; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US., Levy MA; Verspeeten Clinical Genome Centre, LHSC, London, CA., Grafstein J; Section on Epigenetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, US., Larson M; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US., Wright Z; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US., Beauchamp RL; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US., Lucente D; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US., Jamra RA; University of Leipzig Medical Center, Leipzig, DE., Agrawal N; Pediatric Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, US., Agrawal P; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, US., Andersen EF; ARUP Laboratories, Salt Lake City, UT, US., Argilli E; University of California, San Francisco, CA, US., Araiza R; Mutant Mouse Resource and Research Center, University of California, Davis, CA, US., Ballal S; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; Division of Gastroenterology, Boston Children's Hospital, Boston, MA, US., Baxter MF; Centre for Human Genetics and Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK.; Guy's and St Thomas' Hospital, London, UK., Bergant G; Clinical Institute for Genomic Medicine, UMC Ljubljana, Ljubljana, SI., Bertsche A; Department of Pediatric Neurology and Inherited Metabolic Diseases, University Medicine Greifswald, Greifswald, DE., Bhavsar R; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US., Bortola DR; Human 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.; Unidade de Genética, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina, Universidade of São Paulo, Sao Paulo-SP, BR., Bothe V; University of Leipzig Medical Center, Leipzig, DE., Brasch-Andersen C; Department of Clinical Genetics, Odense University Hospital, Odense, DK., Braun D; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, CH., Bruel AL; Université 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., Buchanan C; Dell Children's Medical Group, Austin, TX, US., Burt ND; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US., Carvalho LML; Human 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., Chiriatti L; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, IT., Cogne B; Service de Génétique Médicale, CHU Nantes, Nantes Université, CNRS, INSERM, l'institut du thorax, Nantes, FR., Collins R; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US., Crunk A; GeneDx, LLC, Gaithersburg, MD, US., Currall B; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US., Delahaye-Duriez A; Unité de médecine génomique et génétique clinique, Hôpital Jean Verdier, Assistance Publique, Hôpitaux de Paris, Paris, FR., Delanne J; 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, FHU TRANSLAD, Equipe GAD INSERM UMR1231, Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, Dijon, FR., Denommé-Pichon AS; Université 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., Devriendt K; UZ Leuven, Leuven, BE., Domingo A; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US., Duncan L; Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, US., Faivre L; 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, FHU TRANSLAD, Equipe GAD INSERM UMR1231, Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, Dijon, FR., Famularo L; Pediatric Genetics, University of Virginia School of Medicine, Charlottesville, VA, US., Fulton A; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US., Genetti C; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, US., Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem, IL.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, IL., Havlovicova M; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol and Homolka University Hospital, Prague, CZ., Higgs J; Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK., Houlier M; Assistance Publique, Hôpitaux de Paris, Paris, FR., Iascone M; Medical Genetics Lab, ASST Papa Giovanni XXIII, Bergamo, IT., Immken L; Dell Children's Medical Group, Austin, TX, US., Isidor B; CHU Nantes, Nantes Université, CNRS, INSERM, l'institut du thorax, Nantes, FR., Kaiser FJ; Institute of Human Genetics, University Hospital Essen, Essen, DE., Karbone K; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US., Kenna M; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US., Khan A; Faculty of Biological Sciences, Department of Zoology, University of Lakki Marwat, Khyber, Pakhtunkhwa, PK., Kimmig LK; Institute of Human Genetics, University Hospital Essen, Essen, DE., Kleefstra T; Radboud University Medical Center, Nijmegen, NL., Kraus EM; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, DE., Krepischi ACV; Human 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., Krey I; Institute of Human Genetics, Hebrew University of Jerusalem, Jerusalem, IL., Ladda R; Department of Pediatrics, Penn State Health Children's Hospital, PA, US., Lanoue L; Mouse Biology Program, University of California, Davis, CA, US., Le Caignec C; Nantes University Hospital Center, Nantes, FR., Lewis ZK; ARUP Laboratories, Salt Lake City, UT, US., Lima G; TCR2 Theraputics, Cambridge, MA, US., Lynch SA; Children's Health Ireland at Crumlin, Dublin, IE., Macek M Jr; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol and Homolka University Hospital, Prague, CZ., Maier O; Stiftung Ostschweizer Kinderspital, KER-Zentrum, St. Gallen, CH., Maitz S; Service of Medical Genetics, Oncologic Institute of Southern Switzerland, EOC, Lugano, CH., Male A; Great Ormond Street Hospital for Children, London, UK., Malikova M; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol and Homolka University Hospital, Prague, CZ., McKay V; Liverpool Women's NHS Foundation Trust, Liverpool, UK., Moldovan O; Hospital de Santa Maria, CHULN, Hospital de Santa Maria, CHULN, Lisbon, PT., Monteil D; Naval Medical Center, Portsmouth, VA, US., Oliveira MM; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US., Munasinghe J; Mouse Imaging Facility, National Institute of Neurological Disorders and Stroke, Bethesda, MD, US., Nakamori S; Murine Phenotyping Core Facility, National Heart Lung and Blood Institute, Bethesda, MD, US., Neuser S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, DE., Nizon M; Service de Génétique Médicale, CHU Nantes, Nantes Université, CNRS, INSERM, l'institut du thorax, Nantes, FR., Nuttle X; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US., O'Keefe K; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US., Orec L; Heidelberg University School of Medicine, Heidelberg, DE., Parenti I; Institute of Human Genetics, University Hospital Essen, Essen, DE., Peterlin B; Clinical Institute for Genomic Medicine, UMC Ljubljana, Ljubljana, SI., Pfundt R; Radboud University Medical Center, Nijmegen, NL., Pouncey J; Children's Hospital at Erlanger, Chattanooga, TN, US., Radio FC; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, IT., Robert L; Guy's and St Thomas' Hospital, London, UK., Rodan L; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US., Rosenberg-Fogler H; Department of Genetics, Hadassah Medical Center, Jerusalem, IL., Rosenfeld JA; Baylor College of Medicine, Houston, TX, US.; Baylor Genetics Laboratories, Houston, TX., Safraou H; Université 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., Salani M; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US., Schliesske S; University of Leipzig Medical Center, Leipzig, DE., Seaby EG; Translational Genomics Group, Broad Institute of Harvard and MIT, Boston, MA, US.; Department of Paediatrics, Imperial College London, London, UK.; Human Developmental and Health, University of Southampton, Southampton, UK., Sell S; Department of Pediatrics, Penn State Health Children's Hospital, Hershey, PA, US., Eliot Shearer A; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US., Sherr E; University of California, San Francisco, CA, US., Shillington A; Cincinnati Children's Hospital Medical Center, Cincinnati, OH, US., Siebold D; Vanderbilt University Medical Center, Nashville, TN, US., Sinnema M; Maastricht University Medical Center+, Maastricht, NL., Smith L; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US., Stegmann APA; Maastricht University Medical Center+, Maastricht, NL., Stevens C; University of Tennessee College of Medicine, Chattanooga, TN, US., Stevens S; Maastricht University Medical Center+, Maastricht, NL., Surette E; Boston College, Newton, MA, US., Tartaglia M; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, IT., Taylor JC; Centre for Human Genetics and Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL, US., Tørring PM; Odense University Hospital, Odense, DK., Mau Them FT; Université 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., Tsoulaki O; Manchester University Hospitals Foundation Trust, Manchester, UK., Umair M; Department of Life Sciences, School of Science, University of Management and Technology, Lahore, PK.; Medical Genomics Research Department, King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, SA., Vanhoutte E; Maastricht University Medical Center+, Maastricht, NL., Vincent M; Service de Génétique Médicale, CHU Nantes, Nantes Université, CNRS, INSERM, l'institut du thorax, Nantes, FR., Vitobello A; Université 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., von Wintzingerode L; University of Leipzig Medical Center, Leipzig, DE., Watt A; TCR2 Therapeutics, Cambridge, MA, US., Wayhelova M; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol and Homolka University Hospital, Prague, CZ., Wentzensen IM; GeneDx, LLC, Gaithersburg, MD, US., Wilson W; Pediatric Genetics, University of Virginia School of Medicine, Charlottesville, VA, US., Wojcik MH; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, US.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US., Yuan B; Baylor College of Medicine, Houston, TX, US., Zampino G; Center for Rare Diseases, Department of Human and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, Rome, IT., Srivastava S; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; Division of Neurology, Boston Children's Hospital, Boston, MA, US., Westphal DS; Department of Human Genetics, Landeskrankenhaus University Hospital, Paracelsus Medical University, Salzburg, AT., Riedhammer KM; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine and Health, Technical University of Munich, Munich, DE.; Department of Nephrology, Klinikum rechts der Isar, School of Medicine and Health, Technical University of Munich, Munich, DE.; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, MA, US.; Institute of Anatomy, Medical Faculty, University of Bonn, Bonn, DE., Joyce E; Epigenetics Institute, University of Pennsylvania School of Medicine, Philadelphia, PA, US., Yadav R; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Boston, MA, US., Gusella J; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Boston, MA, US.; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, US., Tai DJC; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Boston, MA, US., Sadikovic B; Verspeeten Clinical Genome Centre, LHSC, London, CA., Pfeifer KE; Section on Epigenetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, US., Talkowski ME; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Boston, MA, US.; Department of Neurology, Harvard Medical School, Boston, MA, US.
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2026 Feb 28. Date of Electronic Publication: 2026 Feb 28.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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DbLabel: MEDLINE Ultimate
An: 41810376
AccessLevel: 2
PubType: Academic Journal
PubTypeId: academicJournal
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Items – Name: Title
  Label: Title
  Group: Ti
  Data: Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.
– Name: Author
  Label: Authors
  Group: Au
  Data: <searchLink fieldCode="AU" term="%22Boone+PM%22">Boone PM</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Erdin+S%22">Erdin S</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Mohamed+A%22">Mohamed A</searchLink>; Section on Epigenetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, US.<br /><searchLink fieldCode="AU" term="%22Haghshenas+S%22">Haghshenas S</searchLink>; Verspeeten Clinical Genome Centre, LHSC, London, CA.<br /><searchLink fieldCode="AU" term="%22Faour+KNW%22">Faour KNW</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Kao+E%22">Kao E</searchLink>; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Fu+J%22">Fu J</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Auwerx+C%22">Auwerx C</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Boston, MA, US.; Department of Neurology, Harvard Medical School, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Harripaul+R%22">Harripaul R</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Jana+B%22">Jana B</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Springer+D%22">Springer D</searchLink>; Murine Phenotyping Core Facility, National Heart Lung and Blood Institute, Bethesda, MD, US.<br /><searchLink fieldCode="AU" term="%22Hallstrom+G%22">Hallstrom G</searchLink>; Epigenetics Institute, University of Pennsylvania School of Medicine, Philadelphia, PA, US.<br /><searchLink fieldCode="AU" term="%22de+Esch+CEF%22">de Esch CEF</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Denhoff+E%22">Denhoff E</searchLink>; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Holmes+L%22">Holmes L</searchLink>; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Mohajeri+K%22">Mohajeri K</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Lemanski+J%22">Lemanski J</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Kerkhof+J%22">Kerkhof J</searchLink>; Verspeeten Clinical Genome Centre, LHSC, London, CA.<br /><searchLink fieldCode="AU" term="%22McConkey+H%22">McConkey H</searchLink>; Verspeeten Clinical Genome Centre, LHSC, London, CA.<br /><searchLink fieldCode="AU" term="%22Rzasa+J%22">Rzasa J</searchLink>; Verspeeten Clinical Genome Centre, LHSC, London, CA.<br /><searchLink fieldCode="AU" term="%22McCune+MJ%22">McCune MJ</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Levy+MA%22">Levy MA</searchLink>; Verspeeten Clinical Genome Centre, LHSC, London, CA.<br /><searchLink fieldCode="AU" term="%22Grafstein+J%22">Grafstein J</searchLink>; Section on Epigenetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, US.<br /><searchLink fieldCode="AU" term="%22Larson+M%22">Larson M</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Wright+Z%22">Wright Z</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Beauchamp+RL%22">Beauchamp RL</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Lucente+D%22">Lucente D</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Jamra+RA%22">Jamra RA</searchLink>; University of Leipzig Medical Center, Leipzig, DE.<br /><searchLink fieldCode="AU" term="%22Agrawal+N%22">Agrawal N</searchLink>; Pediatric Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, US.<br /><searchLink fieldCode="AU" term="%22Agrawal+P%22">Agrawal P</searchLink>; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Andersen+EF%22">Andersen EF</searchLink>; ARUP Laboratories, Salt Lake City, UT, US.<br /><searchLink fieldCode="AU" term="%22Argilli+E%22">Argilli E</searchLink>; University of California, San Francisco, CA, US.<br /><searchLink fieldCode="AU" term="%22Araiza+R%22">Araiza R</searchLink>; Mutant Mouse Resource and Research Center, University of California, Davis, CA, US.<br /><searchLink fieldCode="AU" term="%22Ballal+S%22">Ballal S</searchLink>; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; Division of Gastroenterology, Boston Children's Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Baxter+MF%22">Baxter MF</searchLink>; Centre for Human Genetics and Oxford NIHR Biomedical Research Centre, University of Oxford, Oxford, UK.; Guy's and St Thomas' Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Bergant+G%22">Bergant G</searchLink>; Clinical Institute for Genomic Medicine, UMC Ljubljana, Ljubljana, SI.<br /><searchLink fieldCode="AU" term="%22Bertsche+A%22">Bertsche A</searchLink>; Department of Pediatric Neurology and Inherited Metabolic Diseases, University Medicine Greifswald, Greifswald, DE.<br /><searchLink fieldCode="AU" term="%22Bhavsar+R%22">Bhavsar R</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Bortola+DR%22">Bortola DR</searchLink>; Human 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.; Unidade de Genética, Instituto da Criança, Hospital das Clínicas da Faculdade de Medicina, Universidade of São Paulo, Sao Paulo-SP, BR.<br /><searchLink fieldCode="AU" term="%22Bothe+V%22">Bothe V</searchLink>; University of Leipzig Medical Center, Leipzig, DE.<br /><searchLink fieldCode="AU" term="%22Brasch-Andersen+C%22">Brasch-Andersen C</searchLink>; Department of Clinical Genetics, Odense University Hospital, Odense, DK.<br /><searchLink fieldCode="AU" term="%22Braun+D%22">Braun D</searchLink>; Department of Human Genetics, Inselspital Bern, University of Bern, Bern, CH.<br /><searchLink fieldCode="AU" term="%22Bruel+AL%22">Bruel AL</searchLink>; Université 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.<br /><searchLink fieldCode="AU" term="%22Buchanan+C%22">Buchanan C</searchLink>; Dell Children's Medical Group, Austin, TX, US.<br /><searchLink fieldCode="AU" term="%22Burt+ND%22">Burt ND</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Carvalho+LML%22">Carvalho LML</searchLink>; Human 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.<br /><searchLink fieldCode="AU" term="%22Chiriatti+L%22">Chiriatti L</searchLink>; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, IT.<br /><searchLink fieldCode="AU" term="%22Cogne+B%22">Cogne B</searchLink>; Service de Génétique Médicale, CHU Nantes, Nantes Université, CNRS, INSERM, l'institut du thorax, Nantes, FR.<br /><searchLink fieldCode="AU" term="%22Collins+R%22">Collins R</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Crunk+A%22">Crunk A</searchLink>; GeneDx, LLC, Gaithersburg, MD, US.<br /><searchLink fieldCode="AU" term="%22Currall+B%22">Currall B</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Delahaye-Duriez+A%22">Delahaye-Duriez A</searchLink>; Unité de médecine génomique et génétique clinique, Hôpital Jean Verdier, Assistance Publique, Hôpitaux de Paris, Paris, FR.<br /><searchLink fieldCode="AU" term="%22Delanne+J%22">Delanne J</searchLink>; 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, FHU TRANSLAD, Equipe GAD INSERM UMR1231, Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, Dijon, FR.<br /><searchLink fieldCode="AU" term="%22Denommé-Pichon+AS%22">Denommé-Pichon AS</searchLink>; Université 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.<br /><searchLink fieldCode="AU" term="%22Devriendt+K%22">Devriendt K</searchLink>; UZ Leuven, Leuven, BE.<br /><searchLink fieldCode="AU" term="%22Domingo+A%22">Domingo A</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Duncan+L%22">Duncan L</searchLink>; Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, US.<br /><searchLink fieldCode="AU" term="%22Faivre+L%22">Faivre L</searchLink>; 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, FHU TRANSLAD, Equipe GAD INSERM UMR1231, Université Bourgogne Europe, CHU Dijon Bourgogne, Inserm, Dijon, FR.<br /><searchLink fieldCode="AU" term="%22Famularo+L%22">Famularo L</searchLink>; Pediatric Genetics, University of Virginia School of Medicine, Charlottesville, VA, US.<br /><searchLink fieldCode="AU" term="%22Fulton+A%22">Fulton A</searchLink>; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Genetti+C%22">Genetti C</searchLink>; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Harel+T%22">Harel T</searchLink>; Department of Genetics, Hadassah Medical Center, Jerusalem, IL.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, IL.<br /><searchLink fieldCode="AU" term="%22Havlovicova+M%22">Havlovicova M</searchLink>; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol and Homolka University Hospital, Prague, CZ.<br /><searchLink fieldCode="AU" term="%22Higgs+J%22">Higgs J</searchLink>; Liverpool Centre for Genomic Medicine, Liverpool Women's NHS Foundation Trust, Liverpool, UK.<br /><searchLink fieldCode="AU" term="%22Houlier+M%22">Houlier M</searchLink>; Assistance Publique, Hôpitaux de Paris, Paris, FR.<br /><searchLink fieldCode="AU" term="%22Iascone+M%22">Iascone M</searchLink>; Medical Genetics Lab, ASST Papa Giovanni XXIII, Bergamo, IT.<br /><searchLink fieldCode="AU" term="%22Immken+L%22">Immken L</searchLink>; Dell Children's Medical Group, Austin, TX, US.<br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink>; CHU Nantes, Nantes Université, CNRS, INSERM, l'institut du thorax, Nantes, FR.<br /><searchLink fieldCode="AU" term="%22Kaiser+FJ%22">Kaiser FJ</searchLink>; Institute of Human Genetics, University Hospital Essen, Essen, DE.<br /><searchLink fieldCode="AU" term="%22Karbone+K%22">Karbone K</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Kenna+M%22">Kenna M</searchLink>; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Khan+A%22">Khan A</searchLink>; Faculty of Biological Sciences, Department of Zoology, University of Lakki Marwat, Khyber, Pakhtunkhwa, PK.<br /><searchLink fieldCode="AU" term="%22Kimmig+LK%22">Kimmig LK</searchLink>; Institute of Human Genetics, University Hospital Essen, Essen, DE.<br /><searchLink fieldCode="AU" term="%22Kleefstra+T%22">Kleefstra T</searchLink>; Radboud University Medical Center, Nijmegen, NL.<br /><searchLink fieldCode="AU" term="%22Kraus+EM%22">Kraus EM</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, DE.<br /><searchLink fieldCode="AU" term="%22Krepischi+ACV%22">Krepischi ACV</searchLink>; Human 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.<br /><searchLink fieldCode="AU" term="%22Krey+I%22">Krey I</searchLink>; Institute of Human Genetics, Hebrew University of Jerusalem, Jerusalem, IL.<br /><searchLink fieldCode="AU" term="%22Ladda+R%22">Ladda R</searchLink>; Department of Pediatrics, Penn State Health Children's Hospital, PA, US.<br /><searchLink fieldCode="AU" term="%22Lanoue+L%22">Lanoue L</searchLink>; Mouse Biology Program, University of California, Davis, CA, US.<br /><searchLink fieldCode="AU" term="%22Le+Caignec+C%22">Le Caignec C</searchLink>; Nantes University Hospital Center, Nantes, FR.<br /><searchLink fieldCode="AU" term="%22Lewis+ZK%22">Lewis ZK</searchLink>; ARUP Laboratories, Salt Lake City, UT, US.<br /><searchLink fieldCode="AU" term="%22Lima+G%22">Lima G</searchLink>; TCR2 Theraputics, Cambridge, MA, US.<br /><searchLink fieldCode="AU" term="%22Lynch+SA%22">Lynch SA</searchLink>; Children's Health Ireland at Crumlin, Dublin, IE.<br /><searchLink fieldCode="AU" term="%22Macek+M+Jr%22">Macek M Jr</searchLink>; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol and Homolka University Hospital, Prague, CZ.<br /><searchLink fieldCode="AU" term="%22Maier+O%22">Maier O</searchLink>; Stiftung Ostschweizer Kinderspital, KER-Zentrum, St. Gallen, CH.<br /><searchLink fieldCode="AU" term="%22Maitz+S%22">Maitz S</searchLink>; Service of Medical Genetics, Oncologic Institute of Southern Switzerland, EOC, Lugano, CH.<br /><searchLink fieldCode="AU" term="%22Male+A%22">Male A</searchLink>; Great Ormond Street Hospital for Children, London, UK.<br /><searchLink fieldCode="AU" term="%22Malikova+M%22">Malikova M</searchLink>; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol and Homolka University Hospital, Prague, CZ.<br /><searchLink fieldCode="AU" term="%22McKay+V%22">McKay V</searchLink>; Liverpool Women's NHS Foundation Trust, Liverpool, UK.<br /><searchLink fieldCode="AU" term="%22Moldovan+O%22">Moldovan O</searchLink>; Hospital de Santa Maria, CHULN, Hospital de Santa Maria, CHULN, Lisbon, PT.<br /><searchLink fieldCode="AU" term="%22Monteil+D%22">Monteil D</searchLink>; Naval Medical Center, Portsmouth, VA, US.<br /><searchLink fieldCode="AU" term="%22Oliveira+MM%22">Oliveira MM</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Munasinghe+J%22">Munasinghe J</searchLink>; Mouse Imaging Facility, National Institute of Neurological Disorders and Stroke, Bethesda, MD, US.<br /><searchLink fieldCode="AU" term="%22Nakamori+S%22">Nakamori S</searchLink>; Murine Phenotyping Core Facility, National Heart Lung and Blood Institute, Bethesda, MD, US.<br /><searchLink fieldCode="AU" term="%22Neuser+S%22">Neuser S</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, DE.<br /><searchLink fieldCode="AU" term="%22Nizon+M%22">Nizon M</searchLink>; Service de Génétique Médicale, CHU Nantes, Nantes Université, CNRS, INSERM, l'institut du thorax, Nantes, FR.<br /><searchLink fieldCode="AU" term="%22Nuttle+X%22">Nuttle X</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22O'Keefe+K%22">O'Keefe K</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Orec+L%22">Orec L</searchLink>; Heidelberg University School of Medicine, Heidelberg, DE.<br /><searchLink fieldCode="AU" term="%22Parenti+I%22">Parenti I</searchLink>; Institute of Human Genetics, University Hospital Essen, Essen, DE.<br /><searchLink fieldCode="AU" term="%22Peterlin+B%22">Peterlin B</searchLink>; Clinical Institute for Genomic Medicine, UMC Ljubljana, Ljubljana, SI.<br /><searchLink fieldCode="AU" term="%22Pfundt+R%22">Pfundt R</searchLink>; Radboud University Medical Center, Nijmegen, NL.<br /><searchLink fieldCode="AU" term="%22Pouncey+J%22">Pouncey J</searchLink>; Children's Hospital at Erlanger, Chattanooga, TN, US.<br /><searchLink fieldCode="AU" term="%22Radio+FC%22">Radio FC</searchLink>; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, IT.<br /><searchLink fieldCode="AU" term="%22Robert+L%22">Robert L</searchLink>; Guy's and St Thomas' Hospital, London, UK.<br /><searchLink fieldCode="AU" term="%22Rodan+L%22">Rodan L</searchLink>; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Rosenberg-Fogler+H%22">Rosenberg-Fogler H</searchLink>; Department of Genetics, Hadassah Medical Center, Jerusalem, IL.<br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink>; Baylor College of Medicine, Houston, TX, US.; Baylor Genetics Laboratories, Houston, TX.<br /><searchLink fieldCode="AU" term="%22Safraou+H%22">Safraou H</searchLink>; Université 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.<br /><searchLink fieldCode="AU" term="%22Salani+M%22">Salani M</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Schliesske+S%22">Schliesske S</searchLink>; 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Vanderbilt University Medical Center, Nashville, TN, US.<br /><searchLink fieldCode="AU" term="%22Sinnema+M%22">Sinnema M</searchLink>; Maastricht University Medical Center+, Maastricht, NL.<br /><searchLink fieldCode="AU" term="%22Smith+L%22">Smith L</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Stegmann+APA%22">Stegmann APA</searchLink>; Maastricht University Medical Center+, Maastricht, NL.<br /><searchLink fieldCode="AU" term="%22Stevens+C%22">Stevens C</searchLink>; University of Tennessee College of Medicine, Chattanooga, TN, US.<br /><searchLink fieldCode="AU" term="%22Stevens+S%22">Stevens S</searchLink>; Maastricht University Medical Center+, Maastricht, NL.<br /><searchLink fieldCode="AU" term="%22Surette+E%22">Surette E</searchLink>; Boston College, Newton, MA, US.<br /><searchLink fieldCode="AU" term="%22Tartaglia+M%22">Tartaglia M</searchLink>; Molecular Genetics and Functional Genomics, Bambino Gesù Children's Hospital, IRCCS, Rome, IT.<br /><searchLink fieldCode="AU" term="%22Taylor+JC%22">Taylor JC</searchLink>; 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Maastricht University Medical Center+, Maastricht, NL.<br /><searchLink fieldCode="AU" term="%22Vincent+M%22">Vincent M</searchLink>; Service de Génétique Médicale, CHU Nantes, Nantes Université, CNRS, INSERM, l'institut du thorax, Nantes, FR.<br /><searchLink fieldCode="AU" term="%22Vitobello+A%22">Vitobello A</searchLink>; Université 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.<br /><searchLink fieldCode="AU" term="%22von+Wintzingerode+L%22">von Wintzingerode L</searchLink>; University of Leipzig Medical Center, Leipzig, DE.<br /><searchLink fieldCode="AU" term="%22Watt+A%22">Watt A</searchLink>; TCR2 Therapeutics, Cambridge, MA, US.<br /><searchLink fieldCode="AU" term="%22Wayhelova+M%22">Wayhelova M</searchLink>; Department of Biology and Medical Genetics, Second Faculty of Medicine, Charles University and Motol and Homolka University Hospital, Prague, CZ.<br /><searchLink fieldCode="AU" term="%22Wentzensen+IM%22">Wentzensen IM</searchLink>; GeneDx, LLC, Gaithersburg, MD, US.<br /><searchLink fieldCode="AU" term="%22Wilson+W%22">Wilson W</searchLink>; Pediatric Genetics, University of Virginia School of Medicine, Charlottesville, VA, US.<br /><searchLink fieldCode="AU" term="%22Wojcik+MH%22">Wojcik MH</searchLink>; Division of Newborn Medicine, Boston Children's Hospital, Boston, MA, US.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Yuan+B%22">Yuan B</searchLink>; Baylor College of Medicine, Houston, TX, US.<br /><searchLink fieldCode="AU" term="%22Zampino+G%22">Zampino G</searchLink>; Center for Rare Diseases, Department of Human and Child Health and Public Health, Fondazione Policlinico Universitario A. Gemelli, Rome, IT.<br /><searchLink fieldCode="AU" term="%22Srivastava+S%22">Srivastava S</searchLink>; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; Division of Neurology, Boston Children's Hospital, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Westphal+DS%22">Westphal DS</searchLink>; Department of Human Genetics, Landeskrankenhaus University Hospital, Paracelsus Medical University, Salzburg, AT.<br /><searchLink fieldCode="AU" term="%22Riedhammer+KM%22">Riedhammer KM</searchLink>; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine and Health, Technical University of Munich, Munich, DE.; Department of Nephrology, Klinikum rechts der Isar, School of Medicine and Health, Technical University of Munich, Munich, DE.; Department of Pediatrics, Division of Nephrology, Boston Children's Hospital, Harvard Medical School, Boston, MA, US.; Institute of Anatomy, Medical Faculty, University of Bonn, Bonn, DE.<br /><searchLink fieldCode="AU" term="%22Joyce+E%22">Joyce E</searchLink>; Epigenetics Institute, University of Pennsylvania School of Medicine, Philadelphia, PA, US.<br /><searchLink fieldCode="AU" term="%22Yadav+R%22">Yadav R</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Gusella+J%22">Gusella J</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Boston, MA, US.; Molecular Neurogenetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Tai+DJC%22">Tai DJC</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Boston, MA, US.<br /><searchLink fieldCode="AU" term="%22Sadikovic+B%22">Sadikovic B</searchLink>; Verspeeten Clinical Genome Centre, LHSC, London, CA.<br /><searchLink fieldCode="AU" term="%22Pfeifer+KE%22">Pfeifer KE</searchLink>; Section on Epigenetics, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Bethesda, MD, US.<br /><searchLink fieldCode="AU" term="%22Talkowski+ME%22">Talkowski ME</searchLink>; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Boston, MA, US.; Department of Neurology, Harvard Medical School, Boston, MA, US.
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  Data: <searchLink fieldCode="JN" term="%22101767986%22">MedRxiv : the preprint server for health sciences</searchLink> [medRxiv] 2026 Feb 28. <i>Date of Electronic Publication: </i>2026 Feb 28.
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  Data: Journal Article; Preprint
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  Data: <i>Country of Publication: </i>United States <i>NLM ID: </i>101767986 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>NLM ISO Abbreviation: </i>medRxiv <i>Subsets: </i>PubMed not MEDLINE
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        Value: 10.64898/2026.02.23.26346364
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        Text: English
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      – TitleFull: Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.
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            NameFull: Brasch-Andersen C
      – PersonEntity:
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            NameFull: Braun D
      – PersonEntity:
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      – PersonEntity:
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            NameFull: Delahaye-Duriez A
      – PersonEntity:
          Name:
            NameFull: Delanne J
      – PersonEntity:
          Name:
            NameFull: Denommé-Pichon AS
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      – PersonEntity:
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      – PersonEntity:
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      – PersonEntity:
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      – PersonEntity:
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            NameFull: Fulton A
      – PersonEntity:
          Name:
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      – PersonEntity:
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      – PersonEntity:
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      – PersonEntity:
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      – PersonEntity:
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      – PersonEntity:
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      – PersonEntity:
          Name:
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      – PersonEntity:
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      – PersonEntity:
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      – PersonEntity:
          Name:
            NameFull: Kenna M
      – PersonEntity:
          Name:
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      – PersonEntity:
          Name:
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      – PersonEntity:
          Name:
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      – PersonEntity:
          Name:
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      – PersonEntity:
          Name:
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      – PersonEntity:
          Name:
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      – PersonEntity:
          Name:
            NameFull: Ladda R
      – PersonEntity:
          Name:
            NameFull: Lanoue L
      – PersonEntity:
          Name:
            NameFull: Le Caignec C
      – PersonEntity:
          Name:
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      – PersonEntity:
          Name:
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      – PersonEntity:
          Name:
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      – PersonEntity:
          Name:
            NameFull: Macek M Jr
      – PersonEntity:
          Name:
            NameFull: Maier O
      – PersonEntity:
          Name:
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      – PersonEntity:
          Name:
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      – PersonEntity:
          Name:
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      – PersonEntity:
          Name:
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      – PersonEntity:
          Name:
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      – PersonEntity:
          Name:
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      – PersonEntity:
          Name:
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      – PersonEntity:
          Name:
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      – PersonEntity:
          Name:
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      – PersonEntity:
          Name:
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      – PersonEntity:
          Name:
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      – PersonEntity:
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      – PersonEntity:
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      – PersonEntity:
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      – PersonEntity:
          Name:
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      – PersonEntity:
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      – PersonEntity:
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      – PersonEntity:
          Name:
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      – PersonEntity:
          Name:
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      – PersonEntity:
          Name:
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          Name:
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      – PersonEntity:
          Name:
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      – PersonEntity:
          Name:
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      – PersonEntity:
          Name:
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      – PersonEntity:
          Name:
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      – PersonEntity:
          Name:
            NameFull: Eliot Shearer A
      – PersonEntity:
          Name:
            NameFull: Sherr E
      – PersonEntity:
          Name:
            NameFull: Shillington A
      – PersonEntity:
          Name:
            NameFull: Siebold D
      – PersonEntity:
          Name:
            NameFull: Sinnema M
      – PersonEntity:
          Name:
            NameFull: Smith L
      – PersonEntity:
          Name:
            NameFull: Stegmann APA
      – PersonEntity:
          Name:
            NameFull: Stevens C
      – PersonEntity:
          Name:
            NameFull: Stevens S
      – PersonEntity:
          Name:
            NameFull: Surette E
      – PersonEntity:
          Name:
            NameFull: Tartaglia M
      – PersonEntity:
          Name:
            NameFull: Taylor JC
      – PersonEntity:
          Name:
            NameFull: Thompson ML
      – PersonEntity:
          Name:
            NameFull: Tørring PM
      – PersonEntity:
          Name:
            NameFull: Mau Them FT
      – PersonEntity:
          Name:
            NameFull: Tsoulaki O
      – PersonEntity:
          Name:
            NameFull: Umair M
      – PersonEntity:
          Name:
            NameFull: Vanhoutte E
      – PersonEntity:
          Name:
            NameFull: Vincent M
      – PersonEntity:
          Name:
            NameFull: Vitobello A
      – PersonEntity:
          Name:
            NameFull: von Wintzingerode L
      – PersonEntity:
          Name:
            NameFull: Watt A
      – PersonEntity:
          Name:
            NameFull: Wayhelova M
      – PersonEntity:
          Name:
            NameFull: Wentzensen IM
      – PersonEntity:
          Name:
            NameFull: Wilson W
      – PersonEntity:
          Name:
            NameFull: Wojcik MH
      – PersonEntity:
          Name:
            NameFull: Yuan B
      – PersonEntity:
          Name:
            NameFull: Zampino G
      – PersonEntity:
          Name:
            NameFull: Srivastava S
      – PersonEntity:
          Name:
            NameFull: Westphal DS
      – PersonEntity:
          Name:
            NameFull: Riedhammer KM
      – PersonEntity:
          Name:
            NameFull: Joyce E
      – PersonEntity:
          Name:
            NameFull: Yadav R
      – PersonEntity:
          Name:
            NameFull: Gusella J
      – PersonEntity:
          Name:
            NameFull: Tai DJC
      – PersonEntity:
          Name:
            NameFull: Sadikovic B
      – PersonEntity:
          Name:
            NameFull: Pfeifer KE
      – PersonEntity:
          Name:
            NameFull: Talkowski ME
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 28
              M: 02
              Text: 2026 Feb 28
              Type: published
              Y: 2026
          Titles:
            – TitleFull: MedRxiv : the preprint server for health sciences
              Type: main
ResultId 1