A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants.
Saved in:
| Title: | A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants. |
|---|---|
| Authors: | Borroto MC; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada., Michaud C; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada., Hudon C; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada., Agrawal PB; The Manton Center for Orphan Disease Research, Divisions of Newborn Medicine and of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Agre K; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA., Applegate CD; Department of Genetic Medicine, McKusick-Nathans Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Beggs AH; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Bjornsson HT; Department of Genetic Medicine, McKusick-Nathans Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Louma G. Laboratory of Epigenetic Research, Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland.; Department of Genetics and Molecular Medicine, Landspitali University Hospital, 101 Reykjavik, Iceland., Callewaert B; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium., Chen MJ; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Curry C; Genetic Medicine, University of California San Francisco/Fresno, Fresno, CA 93701, USA., Devinsky O; Departments of Neurology, Neuroscience, Neurosurgery and Psychiatry, NYU School of Medicine, New York, NY 10016, USA., Dudding-Byth T; Hunter Genetics, Newcastle, NSW 2298, Australia., Fagan K; UCSF Benioff Children's Hospital, San Francisco, CA 93940, USA., Finnila CR; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA., Gavrilova R; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.; Department of Neurology, Mayo Clinic, Rochester, MN 55902, USA., Genetti CA; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Hiatt SM; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA., Hildebrandt F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Wojcik MH; The Manton Center for Orphan Disease Research, Divisions of Newborn Medicine and of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Kolvenbach CM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, 53127 Bonn, Germany., Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Kruszka P; GeneDx LLC, Gaithersburg, MD 20877, USA., Li H; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA 30322, USA., Litwin J; Department of Neurology, University of California, San Francisco Benioff Children's Hospital, San Francisco, CA 94158, USA., Marcadier J; Division of Medical Genetics, Alberta Children's Hospital, Calgary, AB T3B 6A8, Canada., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., Blackburn PR; Department of Pathology, St. Jude Children's Hospital, Memphis, TN 38105, USA., Reijnders MRF; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Reutter H; Institute of Human Genetics, University Hospital of Bonn, 53127 Bonn, Germany., Schanze I; Institute of Human Genetics, 39120 Magdeburg, Germany., Shieh JT; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco Benioff Childen's Hospital, San Francisco, CA 94143, USA., Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 38103, USA., Valivullah Z; Center for Mendelian Genomics, Broad Institute Harvard, Cambridge, MA 02142, USA., van den Boogaard MJ; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA Utrecht, The Netherlands., Klee EW; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55902, USA., Campeau PM; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada. |
| Source: | Genes [Genes (Basel)] 2024 Aug 06; Vol. 15 (8). Date of Electronic Publication: 2024 Aug 06. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
|
Full text is not displayed to guests.
Login for full access.
|
|
| ISSN: | 2073-4425 |
|---|---|
| DOI: | 10.3390/genes15081033 |
