Heterozygous loss-of-function

CdLS3 Cornelia de Lange syndrome LoF SMC3 cohesin loss-of-function

Journal

medRxiv : the preprint server for health sciences
Titre abrégé: medRxiv
Pays: United States
ID NLM: 101767986

Informations de publication

Date de publication:
28 Sep 2023
Historique:
medline: 9 10 2023
pubmed: 9 10 2023
entrez: 9 10 2023
Statut: epublish

Résumé

Heterozygous missense variants and in-frame indels in

Identifiants

DOI: 10.1101/2023.09.27.23294269 PMID: 37808847 PMC: PMC10557843
pubmed: 37808847
doi: 10.1101/2023.09.27.23294269
pmc: PMC10557843
pii:
doi:

Types de publication

Preprint

Langues

eng

Subventions

Organisme : NHLBI NIH HHS
ID : R01 HL143295
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD078641
Pays : United States
Organisme : NHGRI NIH HHS
ID : R01 HG009141
Pays : United States
Organisme : NHGRI NIH HHS
ID : T32 HG002295
Pays : United States
Organisme : NINDS NIH HHS
ID : K23 NS119666
Pays : United States
Organisme : NINDS NIH HHS
ID : K08 NS117891
Pays : United States
Organisme : NHGRI NIH HHS
ID : U01 HG011755
Pays : United States
Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : NEI NIH HHS
ID : P30 EY014104
Pays : United States
Organisme : NHGRI NIH HHS
ID : UM1 HG008900
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY026904
Pays : United States
Organisme : NICHD NIH HHS
ID : P50 HD104224
Pays : United States
Organisme : NIMH NIH HHS
ID : R01 MH115957
Pays : United States
Organisme : NICHD NIH HHS
ID : R01 HD081256
Pays : United States
Organisme : NICHD NIH HHS
ID : P50 HD096723
Pays : United States
Organisme : NEI NIH HHS
ID : R01 EY012910
Pays : United States
Organisme : NIDDK NIH HHS
ID : RC2 DK122533
Pays : United States

Auteurs

Morad Ansari (M)

South East Scotland Genetic Service, Western General Hospital, Edinburgh, UK.
MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
These authors contributed equally.

Kamli N W Faour (KNW)

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.
These authors contributed equally.

Akiko Shimamura (A)

Division of Hematology and Oncology, Boston Children's Hospital, Boston, MA, US.

Graeme Grimes (G)

MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.

Emeline M Kao (EM)

Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US.

Erica R Denhoff (ER)

Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US.

Ana Blatnik (A)

MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
Department of Clinical Cancer Genetics, Institute of Oncology Ljubljana, Ljubljana, SI.

Daniel Ben-Isvy (D)

Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.
Division of Medical Sciences, Harvard Medical School, Boston, MA, US.

Lily Wang (L)

Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.
Division of Medical Sciences, Harvard Medical School, Boston, MA, US.

Benjamin M Helm (BM)

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US.

Helen Firth (H)

Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK.

Amy M Breman (AM)

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US.

Emilia K Bijlsma (EK)

Department of Clinical Genetics, Leiden University Medical Centre, Leiden, NL.

Aiko Iwata-Otsubo (A)

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US.

Thomy J L de Ravel (TJL)

Centre for Human Genetics, UZ Leuven/ Leuven University Hospitals, Leuven, BE.

Vincent Fusaro (V)

Invitae, San Francisco, CA, US.

Alan Fryer (A)

Department of Clinical Genetics, Alder Hey Children's Hospital Liverpool, Liverpool, UK.

Keith Nykamp (K)

Invitae, San Francisco, CA, US.

Lara G Stühn (LG)

Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, DE.

Tobias B Haack (TB)

Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, DE.

G Christoph Korenke (GC)

University Children's Hospital Oldenburg, Department of Neuropaediatric and Metabolic Diseases, University Children's Hospital Oldenburg, Oldenburg, DE.

Panayiotis Constantinou (P)

West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK.

Kinga M Bujakowska (KM)

Massachusetts Eye and Ear Infirmary, Boston, MA, US.

Karen J Low (KJ)

University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.
University of Bristol, Bristol, UK.

Emily Place (E)

Massachusetts Eye and Ear Infirmary, Boston, MA, US.

Jennifer Humberson (J)

University of Virginia Health System, Charlottesville, VA, US.

Melanie P Napier (MP)

GeneDx, Gaithersburg, MD, US.

Jessica Hoffman (J)

GeneDx, Gaithersburg, MD, US.

Jane Juusola (J)

GeneDx, Gaithersburg, MD, US.

Matthew A Deardorff (MA)

Departments of Pathology and Pediatrics, Children's Hospital Los Angeles and University of Southern California, Los Angeles, CA, US.

Wanqing Shao (W)

Research Computing, Information Technology, Boston Children's Hospital, Boston, MA, US.

Shira Rockowitz (S)

Research Computing, Information Technology, Boston Children's Hospital, Boston, MA, US.
The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, US.
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.

Ian Krantz (I)

Children's Hospital of Philadelphia, Philadelphia, PA, US.

Maninder Kaur (M)

Children's Hospital of Philadelphia, Philadelphia, PA, US.

Sarah Raible (S)

Children's Hospital of Philadelphia, Philadelphia, PA, US.

Sabine Kliesch (S)

Department of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, University Hospital Münster, Münster, DE.

Moriel Singer-Berk (M)

Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.

Emily Groopman (E)

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.
Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.

Stephanie DiTroia (S)

Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.

Sonia 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.

Siddharth Srivastava (S)

Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.
Divison of Neurology, Boston Children's Hospital, Boston, MA, US.

Kathrin Rothfelder (K)

Zentrum für Humangenetik, Tübingen, DE.

Saskia Biskup (S)

Zentrum für Humangenetik, Tübingen, DE.
Center for Genomics and Transcriptomics (CeGaT), Tübingen, DE.

Jessica Rzasa (J)

Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA.

Jennifer Kerkhof (J)

Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA.

Haley McConkey (H)

Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA.

Anne O'Donnell-Luria (A)

Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.

Bekim Sadikovic (B)

Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA.

Sarah Hilton (S)

Manchester University, Manchester, UK.

Siddharth Banka (S)

Manchester University, Manchester, UK.

Frank Tüttelmann (F)

Institute of Reproductive Genetics, University of Münster, Münster, DE.

Donald Conrad (D)

Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Portland, OR, US.
Center for Embryonic Cell and Gene Therapy, Oregon Health and Science University, Portland, OR, US.

Michael E Talkowski (ME)

Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.

David R FitzPatrick (DR)

MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
These authors contributed equally.

Philip M Boone (PM)

Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.
Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.
Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.
Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.
These authors contributed equally.

Classifications MeSH