Loss of DOT1L function disrupts neuronal transcription, animal behavior, and leads to a novel neurodevelopmental disorder.

Autor: Maroni MJ, Barton M, Lynch K, Deshwar AR, Campbell P, Millard J, Lee R, Cohen A, Paranjapye A, Faundes V, Repetto GM, McKenna C, Shillington AL, Phornphutkul C, Mancini GM, Schot R, Barakat TS, Richmond CM, Lauzon J, Elsayed Ibrahim AI, Benito DN, Ortez C, Estevez-Arias B, Lecoquierre F, Cassinari K, Guerrot AM, Levy J, Latypova X, Verloes A, Innes AM, Yang XR, Banka S, Vill K, Jacob M, Kruer M, Skidmore P, Galaz-Montoya CI, Bakhtiari S, Mester JL, Granato M, Armache KJ, Costain G, Korb E

Publikováno v: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Nov 02. Date of Electronic Publication: 2024 Nov 02.

Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.

Autor: Fortuno C; Population Health Program, QIMR Berghofer Medical Research Institute, Herston, QLD 4006, Australia., Michailidou K; Biostatistics Unit, The Cyprus Institute of Neurology and Genetics, Nicosia 2371, Cyprus., Parsons M; Population Health Program, QIMR Berghofer Medical Research Institute, Herston, QLD 4006, Australia., Dolinsky JS; Ambry Genetics, Aliso Viejo, CA 92656, United States., Pesaran T; Ambry Genetics, Aliso Viejo, CA 92656, United States., Yussuf A; Ambry Genetics, Aliso Viejo, CA 92656, United States., Mester JL; GeneDx, Gaithersburg, MD 20877, United States., Hruska KS; GeneDx, Gaithersburg, MD 20877, United States., Hiraki S; GeneDx, Gaithersburg, MD 20877, United States., O'Connor R; Color Genomics, Inc., Burlingame, CA 94010, United States., Chan RC; Color Genomics, Inc., Burlingame, CA 94010, United States., Kim S; Color Genomics, Inc., Burlingame, CA 94010, United States., Tavtigian SV; Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, United States., Goldgar D; Huntsman Cancer Institute, University of Utah, Salt Lake City, UT 84112, United States., James PA; Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, VIC 3052, Australia.; Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, VIC 3010, Australia., Spurdle AB; Population Health Program, QIMR Berghofer Medical Research Institute, Herston, QLD 4006, Australia.; Faculty of Medicine, The University of Queensland, Herston, QLD 4006, Australia.

Publikováno v: Human molecular genetics [Hum Mol Genet] 2024 Apr 08; Vol. 33 (8), pp. 724-732.

A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.

Autor: Paul MS; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA; Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Houston, TX, USA., Michener SL; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA; Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Houston, TX, USA., Pan H; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Chan H; Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Houston, TX, USA; Augustana College, Rock Island, IL, USA; Summer Undergraduate Research Training (SMART) Program, Baylor College of Medicine, Houston, TX, USA., Pfliger JM; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA; Graduate Program in Electrical and Computer Engineering, Rice University, Houston, TX, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Lerma VC; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA; Department of Psychology, University of Houston, Houston, TX, USA., Tran A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Longley MA; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA., Lewis RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Ophthalmology, Baylor College of Medicine, Houston, TX, USA., Weisz-Hubshman M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Bekheirnia MR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Renal Genetics Clinic, Baylor College of Medicine, Houston, TX, USA., Bekheirnia N; Renal Genetics Clinic, Baylor College of Medicine, Houston, TX, USA., Massingham L; Rhode Island Hospital and Hasbro Children's Hospital, Providence, RI, USA., Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University, Munich, Germany; Institute for Advanced Study, Technical University of Munich, Garching, Germany., Wagner M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany; Institute of Human Genetics, School of Medicine, Technical University, Munich, Germany; Division of Pediatric Neurology, Developmental Neurology and Social Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany., Engels H; Institute of Human Genetics, School of Medicine, University Hospital Bonn, University of Bonn, Bonn, Germany., Cremer K; Division of Pediatric Neurology, Developmental Neurology and Social Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany., Mangold E; Division of Pediatric Neurology, Developmental Neurology and Social Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany., Peters S; Division of Pediatric Neurology, Developmental Neurology and Social Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany., Trautmann J; Division of Pediatric Neurology, Developmental Neurology and Social Pediatrics, Dr. von Hauner Children's Hospital, Munich, Germany., Mester JL; GeneDx, Gaithersburg, MD, USA., Guillen Sacoto MJ; GeneDx, Gaithersburg, MD, USA., Person R; GeneDx, Gaithersburg, MD, USA., McDonnell PP; Epilepsy NeuroGenetics Initiative (ENGIN), Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Cohen SR; Epilepsy NeuroGenetics Initiative (ENGIN), Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Lusk L; Epilepsy NeuroGenetics Initiative (ENGIN), Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Cohen ASA; Children's Mercy Kansas City, Genomic Medicine Center, The University of Missouri-Kansas City (UMKC), School of Medicine, Kansas City, MO, USA., Le Pichon JB; Department of Pediatrics, Children's Mercy Kansas City, Kansas City, MO, USA., Pastinen T; Children's Mercy Kansas City, Genomic Medicine Center, The University of Missouri-Kansas City (UMKC), School of Medicine, Kansas City, MO, USA; Children's Mercy Research Institute, Kansas City, MO, USA., Zhou D; Children's Mercy Hospital, Kansas City, MO, USA., Engleman K; Children's Mercy Hospital, Kansas City, MO, USA., Racine C; University Hospital, Dijon, France; INSERM UMR1231 GAD 'Génétique des Anomalies Du Développement,' FHU-TRANSLAD, University of Burgundy, Dijon, France; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne, France., Faivre L; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne, France; Department of Genetics and Reference Center for Development Disorders and Intellectual Disabilities, FHU-TRANSLAD and GIMI Institute, Dijon Bourgogne University Hospital, Dijon, France., Moutton S; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne, France; Department of Genetics and Reference Center for Development Disorders and Intellectual Disabilities, FHU-TRANSLAD and GIMI Institute, Dijon Bourgogne University Hospital, Dijon, France., Denommé-Pichon AS; University Hospital, Dijon, France; INSERM UMR1231 GAD 'Génétique des Anomalies Du Développement,' FHU-TRANSLAD, University of Burgundy, Dijon, France; Functional Unit for Diagnostic Innovation in Rare Diseases, FHU-TRANSLAD, Dijon Bourgogne, France., Koh HY; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Poduri A; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Bolton J; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Knopp C; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH, Aachen University, Aachen, Germany., Julia Suh DS; Institute for Human Genetics and Genomic Medicine, Medical Faculty, RWTH, Aachen University, Aachen, Germany., Maier A; Medical Treatment Center for Adults with Intellectual Disabilities and/or Severe Multiple Disabilities (MZEB), RWTH Aachen University Hospital, Aachen, Germany., Toosi MB; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Karimiani EG; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Schaefer GB; University of Arkansas for Medical Sciences; Little Rock, AR, USA., Ramakumaran V; LNR Genomics Medicine, University Hospitals of Leicester, Leicester, UK., Vasudevan P; LNR Genomics Medicine, University Hospitals of Leicester, Leicester, UK., Prasad C; London Health Sciences Centre, and Division of Medical Genetics, Department of Pediatrics, Western University, London, ON, Canada., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, ON, Canada., Schuhmann S; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Russ-Hall S; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, VIC, Australia., Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, VIC, Australia; Department of Pediatrics, University of Melbourne, Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, VIC, Melbourne, Australia., Carvill GL; Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., Mefford H; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN, USA., Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Lee BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA., Chao HT; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine, Houston, TX, USA; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX, USA; Cain Pediatric Neurology Research Foundation Laboratories, Jan and Dan Duncan Neurological Research Institute, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX, USA; McNair Medical Institute, The Robert and Janice McNair Foundation, Houston, TX, USA. Electronic address: chao-lab@bcm.edu.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2024 Jan 04; Vol. 111 (1), pp. 96-118.

Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.

Autor: Hatton JN; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA., Frone MN; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA., Cox HC; PreventionGenetics LLC, Marshfield, Wisconsin, USA., Crowley SB; Invitae Corporation, San Francisco, California, USA., Hiraki S; GeneDx, Gaithersburg, Maryland, USA., Yokoyama NN; Ambry Genetics, Aliso Viejo, California, USA., Abul-Husn NS; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Amatruda JF; Cancer and Blood Disease Institute, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, California, USA., Anderson MJ; Invitae Corporation, San Francisco, California, USA., Bofill-De Ros X; RNA Biology Laboratory, Center for Cancer Research, National Cancer Institute, Frederick, Maryland, USA., Carr AG; Weststat, Inc, Rockville, Maryland, USA., Chao EC; Ambry Genetics, Aliso Viejo, California, USA.; Division of Genetics and Genomics, Department of Pediatrics, University of California, Irvine, California, USA., Chen KS; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, Texas, USA., Gu S; RNA Biology Laboratory, Center for Cancer Research, National Cancer Institute, Frederick, Maryland, USA., Higgs C; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA., Machado J; Exact Sciences Laboratories, Madison, Wisconsin, USA., Ritter D; Baylor College of Medicine, Houston, Texas, USA., Schultz KA; Cancer and Blood Disorders, Children's Minnesota, International Pleuropulmonary Blastoma/DICER1 Registry, Minneapolis, Minnesota, USA., Soper ER; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Wu MK; Cancer and Blood Disease Institute, Children's Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, California, USA., Mester JL; GeneDx, Gaithersburg, Maryland, USA., Kim J; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA., Foulkes WD; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Witkowski L; Department of Human Genetics, McGill University, Montreal, Quebec, Canada., Stewart DR; Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, Maryland, USA.

Publikováno v: Human mutation [Hum Mutat] 2023; Vol. 2023. Date of Electronic Publication: 2023 Mar 29.

ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.

Autor: Preston CG; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA., Wright MW; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA., Madhavrao R; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA., Harrison SM; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., Goldstein JL; Department of Genetics, University of North Carolina, Chapel Hill, NC, 27599, USA., Luo X; Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, TX, 77030, USA., Wand H; Center for Inherited Cardiovascular Disease, Stanford Health Care, Stanford, CA, 94305, USA., Wulf B; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA., Cheung G; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA., Mandell ME; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA., Tong H; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA., Cheng S; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA., Iacocca MA; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA., Pineda AL; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, 94305, USA., Popejoy AB; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, 94305, USA., Dalton K; Department of Medicine, Stanford University School of Medicine, Stanford, CA, 94305, USA., Zhen J; Department of Medicine, Stanford University School of Medicine, Stanford, CA, 94305, USA., Dwight SS; Grace Science LLC, Menlo Park, CA, 94025, USA., Babb L; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., DiStefano M; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA., O'Daniel JM; Department of Genetics, University of North Carolina, Chapel Hill, NC, 27599, USA., Lee K; Department of Genetics, University of North Carolina, Chapel Hill, NC, 27599, USA., Riggs ER; Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, PA, 17837, USA., Zastrow DB; Sutter Health, Mountain View, CA, 94040, USA., Mester JL; GeneDx Inc., Gaithersburg, MD, 20877, USA., Ritter DI; Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, TX, 77030, USA., Patel RY; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Subramanian SL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Milosavljevic A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Berg JS; Department of Genetics, University of North Carolina, Chapel Hill, NC, 27599, USA., Rehm HL; Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 02114, USA., Plon SE; Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, TX, 77030, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Cherry JM; Department of Genetics, Stanford University School of Medicine, Stanford, CA, 94305, USA., Bustamante CD; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, 94305, USA.; Department of Genetics, Stanford University School of Medicine, Stanford, CA, 94305, USA., Costa HA; Department of Pathology, Stanford University School of Medicine, 300 Pasteur Drive, MSOB x313, Stanford, CA, 94305, USA. hcosta@stanford.edu.; Department of Biomedical Data Science, Stanford University School of Medicine, Stanford, CA, 94305, USA. hcosta@stanford.edu.

Publikováno v: Genome medicine [Genome Med] 2022 Jan 18; Vol. 14 (1), pp. 6. Date of Electronic Publication: 2022 Jan 18.