ReviewAmerican journal of human genetics2021
A dyadic approach to the delineation of diagnostic entities in clinical genomics.
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Review in American journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 55 papers, 3 of them syntheses that pooled it.
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55citing papers in PubMed, 3 pooled it
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Who cites it
55 citing papers in PubMed, 3 syntheses or guidelines pooled it.
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Corrections and comments
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Authors and funding
47 authors.
Leslie G BieseckerMedical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: lesb@mail.nih.gov.
Margaret P AdamDivision of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98105, USA.
Fowzan S AlkurayaDepartment of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh 11211, Saudi Arabia.
Anne R AmemiyaComputercraft Corporation, McLean, VA 20005, USA.
Michael J BamshadDepartment of Pediatrics and Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA.
Anita E BeckPediatric Genetic Medicine Service, University of Washington, Seattle, WA 98195, USA; Seattle Children's Hospital, Seattle, WA 98015, USA.
James T BennettCenter for Developmental Biology and Regenerative Medicine, Seattle Children's Research Institute and Division Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98101, USA.
Lynne M BirdDepartment of Pediatrics, University of California San Diego, San Diego 92123, USA; Rady Children's Hospital, San Diego, CA 92123, USA.
John C CareyDepartment of Pediatrics, University of Utah School of Medicine, Salt Lake City, UT 84108, USA.
Brian ChungDepartment of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Queen Mary Hospital, LKS Faculty of Medicine, University of Hong Kong, Hong Kong, China.
Robin D ClarkLoma Linda University School of Medicine, Department of Pediatrics, Division of Medical Genetics, Loma Linda, CA 92354, USA.
Timothy C CoxDepartment of Oral and Craniofacial Sciences, School of Dentistry and Department of Pediatrics, School of Medicine, University of Missouri-Kansas City, Kansas City, MO 64108, USA.
Cynthia CurryGenetic Medicine, Department of Pediatrics, University of California, Fresno, Fresno, CA 93701, USA.
Mary Beth Palko DinulosThe Geisel School of Medicine at Dartmouth, Department of Pediatrics, Section of Genetics and Child Development, Dartmouth-Hitchcock Medical Center, Lebanon, NH 03756, USA.
William B DobynsDivision of Genetics, Department of Pediatrics, University of Minnesota, Minneapolis, MN 55455, USA.
Philip F GiampietroRutgers-Robert Wood Johnson Medical School, New Brunswick, NJ 08901, USA.
Katta M GirishaDepartment of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal 576104, India.
Ian A GlassDepartment of Pediatrics and Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA.
John M GrahamCedars-Sinai Medical Center and Harbor-UCLA Medical Center, David Geffen School of Medicine at UCLA, Los Angeles, CA 90048, USA.
Karen W GrippDivision of Medical Genetics, Department of Pediatrics, AI DuPont Hospital for Children/Nemours, Wilmington, DE 19803, USA.
Chad R Haldeman-EnglertMission Fullerton Genetics Center, Asheville, NC 28803, USA.
Bryan D HallGreenwood Genetic Center, Greenwood, SC 29646, USA.
A Micheil InnesDepartment of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB T3B 6A8, Canada.
Jennifer M KalishDivision of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA; Departments of Pediatrics and Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA.
Kim M Keppler-NoreuilDivision of Genetics, Children's National Medical Center, Washington, DC 20010, USA.
Kenjiro KosakiKeio University School of Medicine, Tokyo 160-8582, Japan.
Beth A KozelTranslational Vascular Medicine Branch, National Heart Lung and Blood Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Ghayda M MirzaaBrotman Baty Institute for Precision Medicine, Seattle, WA 98195, USA; Center for Integrative Brain Research, Seattle Children's Research Institute, Department of Pediatrics, University of Washington, Seattle, WA 98101, USA.
John J MulvihillUniversity of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA; National Human Genome Research Institute, Bethesda, MD 20892, USA.
Malgorzata J M NowaczykMolecular Medicine & Pathology and Pediatrics, McMaster University, Hamilton, ON L8S 3K9, Canada.
Roberta A PagonDivision of Genetic Medicine, Department of Pediatrics, University of Washington School of Medicine, Seattle, WA 98105, USA.
Kyle RettererGeneDx, Gaithersburg, MD 20877, USA.
Alan F RopeGenome Medical, South San Francisco, CA 94080, USA.
Pedro A Sanchez-LaraDepartment of Pediatrics, Cedars-Sinai Medical Center and David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, CA 90048, USA.
Laurie H SeaverSpectrum Health Medical Genetics and Genomics/Helen Devos Children's Hospital, Department of Pediatrics and Human Development, Michigan State University College of Human Medicine, Grand Rapids, MI 49503, USA.
Joseph T ShiehInstitute for Human Genetics and Division of Medical Genetics, Department of Pediatrics Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA 94143, USA.
Anne M SlavotinekInstitute for Human Genetics and Division of Medical Genetics, Department of Pediatrics Benioff Children's Hospital, University of California, San Francisco, San Francisco, CA 94143, USA.
Andrew K SoberingDepartment of Biochemistry, St. George's University School of Medicine, St. George's, Grenada.
Cathy A StevensDepartment of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 37403, USA.
David A StevensonDivision of Medical Genetics, Department of Pediatrics, Stanford University, Palo Alto, CA 94305, USA.
Tiong Yang TanVictorian Clinical Genetics Services, Murdoch Children's Research Institute and Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
Wen-Hann TanDivision of Genetics and Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA.
Anne C TsaiSection of Genetics, Department of Pediatrics, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.
David D WeaverDepartment of Medical and Molecular Genetics, Indiana University School of Medicine, 975 W. Walnut Street, Indianapolis, IN 46202, USA.
Marc S WilliamsGenomic Medicine Institute, Geisinger, Danville, PA 17822, USA.
Elaine ZackaiDivision of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, PA 19104, USA.
Yuri A ZarateSection of Genetics and Metabolism, Department of Pediatrics, University of Arkansas for Medical Sciences, Little Rock, AR 72202, USA.
Funding
Rare & Mosaic Disorders - Clinical ResearchZIAHG200388 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI BIESECKER, LESLIE · 2013 to 2025
$17.3MModifiers of elastin arteriopathyZIAHL006212 · NHLBI · NATIONAL HEART, LUNG, AND BLOOD INSTITUTE · PI KOZEL, BETH · 2016 to 2024
$9.7MMolecular and cellular mechanisms causing cleft lip/palateR01DE027879 · NIDCR · UNIVERSITY OF MISSOURI KANSAS CITY · PI COX, TIMOTHY CHILTON · 2019 to 2023
$2.8MGenes and pathways underlying brain overgrowth and focal cortical malformationsK08NS092898 · NINDS · SEATTLE CHILDREN'S HOSPITAL · PI MIRZAA, GHAYDA · 2015 to 2019
$930kThe Mechanism of Tumor Formation in Beckwith-Wiedemann SyndromeK08CA193915 · NCI · CHILDREN'S HOSP OF PHILADELPHIA · PI KALISH, JENNIFER MELISSA · 2015 to 2019
$703kIntramural NIH HHS ZIA HG200388NCI NIH HHS K08 CA193915NIDCR NIH HHS R01 DE027879NINDS NIH HHS K08 NS092898
Abstract
The delineation of disease entities is complex, yet recent advances in the molecular characterization of diseases provide opportunities to designate diseases in a biologically valid manner. Here, we have formalized an approach to the delineation of Mendelian genetic disorders that encompasses two distinct but inter-related concepts: (1) the gene that is mutated and (2) the phenotypic descriptor, preferably a recognizably distinct phenotype. We assert that only by a combinatorial or dyadic approach taking both of these attributes into account can a unitary, distinct genetic disorder be designated. We propose that all Mendelian disorders should be designated as "GENE-related phenotype descriptor" (e.g., "CFTR-related cystic fibrosis"). This approach to delineating and naming disorders reconciles the complexity of gene-to-phenotype relationships in a simple and clear manner yet communicates the complexity and nuance of these relationships.
Indexed as
Cystic FibrosisCystic Fibrosis Transmembrane Conductance RegulatorGenetic Diseases, InbornGenomicsGenotypeHumansMutationPhenotypeCystic Fibrosis Transmembrane Conductance Regulator
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