Genetics in Medicine Open (Jan 2023)
P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies*
- Philip Boone,
- Kamli Faour,
- Kiana Mohajeri,
- John Lemanski,
- Bimal Jana,
- Jack Fu,
- Jennifer Kerkhof,
- Haley McConkey,
- Ryan Collins,
- Diane Lucente,
- Celine de Esch,
- Mariana Moysés-Oliveira,
- Alexander Nuttle,
- Aloysius Domingo,
- Serkan Erdin,
- Maris Hanley,
- Amy Watt,
- Eric Surette,
- Gloria Lima,
- Laura Smith,
- Monica Salani,
- Rachita Yadav,
- Ricardo Harripaul,
- Kathryn O’Keefe,
- Nicholas Burt,
- Matthew Larson,
- Riya Bhavsar,
- Benjamin Currall,
- Susan Sell,
- Roger Ladda,
- LaDonna Immken,
- Catherine Buchanan,
- Bo Yuan,
- Sally Lynch,
- Christian Gilissen,
- Rolph Pfundt,
- Charlotte Ockeloen,
- Tjitske Kleefstra,
- Els Vanhoutte,
- Margje Sinnema,
- Sander Stegmann,
- Servi Stevens,
- Maria Iascone,
- Silvia Maitz,
- Benjamin Cogne,
- Cedric Le Caignec,
- Marie Vincent,
- Mathilde Nizon,
- Alison Male,
- Pankaj Agrawal,
- Michelle Thompson,
- Pernille Torring,
- Charlotte Brasch-Andersen,
- Laurence Faivre,
- Ange-Line Bruel,
- Bertrand Isidor,
- Christophe Philippe,
- Manuela Morleo,
- Monica Wojcik,
- Casie Genetti,
- Siddharth Srivastava,
- Sonia Ballal,
- Sophia Schließke,
- Rami Abou Jamra,
- Andree Delahaye,
- Lydia von Wintzingerode,
- Viktoria Bothe,
- Marine Houlier,
- Timothy Stout,
- Gaber Bergant,
- Borut Peterlin,
- Oana Moldovan,
- Núria Martínez-Gil,
- Emanuela Argilli,
- Elliott Sherr,
- Tamar Harel,
- Hallel Rosenberg-Fogler,
- Jill Rosenfeld,
- Ingrid Wentzensen,
- Dominik Westphal,
- Korbinian Riedhammer,
- Laura Orec,
- James Gusella,
- Bekim Sadikovic,
- Derek Tai,
- Michael Talkowski
Affiliations
- Philip Boone
- Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
- Kamli Faour
- Division of Genetics and Genomics, Boston Children’s Hospital, Boston, MA; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children’s Hospital
- Kiana Mohajeri
- Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
- John Lemanski
- Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
- Bimal Jana
- Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
- Jack Fu
- Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
- Jennifer Kerkhof
- Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, LHSC, London, CAN
- Haley McConkey
- Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, LHSC, London, CAN
- Ryan Collins
- Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
- Diane Lucente
- Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
- Celine de Esch
- Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
- Mariana Moysés-Oliveira
- Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
- Alexander Nuttle
- Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
- Aloysius Domingo
- Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
- Serkan Erdin
- Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
- Maris Hanley
- HSCI-CRM Flow Cytometry Core Facility, Massachusetts General Hospital, Boston, MA
- Amy Watt
- TCR2 Therapeutics, Cambridge, MA
- Eric Surette
- Boston College, Newton, MA
- Gloria Lima
- TCR2 Therapeutics, Cambridge, MA
- Laura Smith
- Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
- Monica Salani
- Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
- Rachita Yadav
- Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
- Ricardo Harripaul
- Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
- Kathryn O’Keefe
- Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
- Nicholas Burt
- Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
- Matthew Larson
- Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
- Riya Bhavsar
- Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
- Benjamin Currall
- Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
- Susan Sell
- Department of Pediatrics, Penn State Health Children's Hospital, Hershey, PA
- Roger Ladda
- Department of Pediatrics, Penn State Health Children's Hospital, Hershey, PA
- LaDonna Immken
- Dell Children's Medical Group, Austin, TX
- Catherine Buchanan
- Dell Children's Medical Group, Austin, TX
- Bo Yuan
- Baylor College of Medicine, Houston, TX
- Sally Lynch
- Children's Health Ireland at Crumlin, Dublin, IE
- Christian Gilissen
- Radboud University Medical Center, Nijmegen, NL
- Rolph Pfundt
- Radboud University Medical Center, Nijmegen, NL
- Charlotte Ockeloen
- Radboud University Medical Center, Nijmegen, NL
- Tjitske Kleefstra
- Radboud University Medical Center, Nijmegen, NL
- Els Vanhoutte
- Maastricht University Medical Center+, Maastricht, NL
- Margje Sinnema
- Maastricht University Medical Center+, Maastricht, NL
- Sander Stegmann
- Maastricht University Medical Center+, Maastricht, NL
- Servi Stevens
- Maastricht University Medical Center+, Maastricht, NL
- Maria Iascone
- ASST Papa Giovanni XXIII: Bergamo, ITA
- Silvia Maitz
- Clin. Genet., MBBM Foundation, S. Gerardo Hospital, Monza, ITA; Service of Med. Genet., Oncologic Institute of Southern Switzerland, EOC, Lugano, CH
- Benjamin Cogne
- Nantes University Hospital Center, Nantes, FR
- Cedric Le Caignec
- Nantes University Hospital Center, Nantes, FR
- Marie Vincent
- Nantes University Hospital Center, Nantes, FR
- Mathilde Nizon
- Nantes University Hospital Center, Nantes, FR
- Alison Male
- Great Ormond Street Hospital for Children, London, UK
- Pankaj Agrawal
- The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Boston, MA
- Michelle Thompson
- HudsonAlpha Institute for Biotechnology, Huntsville, AL
- Pernille Torring
- Odense University Hospital, Odense, DK
- Charlotte Brasch-Andersen
- Odense University Hospital, Odense, DK
- Laurence Faivre
- Centre de référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, Equipe GAD INSERM, CHU Dijon et Université de Bourgogne, Dijon, FR
- Ange-Line Bruel
- Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, FR; INSERM - Bourgogne Franche-Comté University, Dijon, FR
- Bertrand Isidor
- Nantes University Hospital Center, Nantes, FR
- Christophe Philippe
- Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, CHU Dijon Bourgogne, Dijon, FR; INSERM - Bourgogne Franche-Comté University, Dijon, FR
- Manuela Morleo
- University of Campania, Naples, ITA
- Monica Wojcik
- Divisions of Newborn Medicine and Genetics and Genomics, Boston Children’s Hospital, Boston, MA
- Casie Genetti
- The Manton Center for Orphan Disease Research, Boston Children’s Hospital, Boston, MA
- Siddharth Srivastava
- Division of Neurology, Boston Children’s Hospital, Boston, MA; Cornelia de Lange Syndrome and Related Disorders, Boston Children’s Hospital, Boston, MA
- Sonia Ballal
- Division of Gastroenterology, Boston Children’s Hospital, Boston, MA; Cornelia de Lange Syndrome and Related Disorders, Boston Children’s Hospital, Boston, MA
- Sophia Schließke
- University of Leipzig Medical Center, Leipzig, DE
- Rami Abou Jamra
- University of Leipzig Medical Center, Leipzig, DE
- Andree Delahaye
- Assistance Publique, Hôpitaux de Paris, Paris, FR
- Lydia von Wintzingerode
- University of Leipzig Medical Center, Leipzig, DE
- Viktoria Bothe
- University of Leipzig Medical Center, Leipzig, DE
- Marine Houlier
- Assistance Publique, Hôpitaux de Paris, Paris, FR
- Timothy Stout
- Baylor College of Medicine, Houston, TX
- Gaber Bergant
- Clinical Institute for Genomic Medicine, UMC Ljubljana, Ljubljana, SI
- Borut Peterlin
- Clinical Institute for Genomic Medicine, UMC Ljubljana, Ljubljana, SI
- Oana Moldovan
- Hospital de Santa Maria, CHULN, Lisbon, PT
- Núria Martínez-Gil
- Vall d'Hebron University Hospital, Barcelona, ES
- Emanuela Argilli
- University of California, San Francisco, CA
- Elliott Sherr
- University of California, San Francisco, CA
- Tamar Harel
- Department of Genetics, Hadassah Medical Center, Jerusalem, IL; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, IL
- Hallel Rosenberg-Fogler
- Department of Genetics, Hadassah Medical Center, Jerusalem, IL; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, IL
- Jill Rosenfeld
- Baylor College of Medicine, Houston, TX; Baylor Genetics Laboratories, Houston, TX
- Ingrid Wentzensen
- GeneDx, Gaithersburg, MD
- Dominik Westphal
- Institute of Human Genetics, MRI, TUM, School of Medicine, Munich, DE; Department of Cardiology, MRI, TUM, School of Medicine, Munich, DE
- Korbinian Riedhammer
- Institute of Human Genetics, MRI, TUM, School of Medicine, Munich, DE; Department of Nephrology, MRI, TUM, School of Medicine, Munich, DE
- Laura Orec
- Heidelberg University School of Medicine, Heidelberg, DE
- James Gusella
- Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
- Bekim Sadikovic
- Molecular Diagnostics Program, and Verspeeten Clinical Genome Centre, LHSC, London, CAN
- Derek Tai
- Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA
- Michael Talkowski
- Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA; Medical and Population Genetics, The Broad Institute of Harvard and MIT, Boston, MA
- Journal volume & issue
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Vol. 1,
no. 1
p. 100188
