Association of common and rare variants with Alzheimer's disease in more than 13,000 diverse individuals with whole-genome sequencing from the Alzheimer's Disease Sequencing Project.

Autor: Lee WP; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Choi SH; Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA., Shea MG; Biostatistics and Epidemiology Data Analytics Center, Boston University School of Public Health, Boston, Massachusetts, USA., Cheng PL; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Dombroski BA; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Pitsillides AN; Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA., Heard-Costa NL; Department of Neurology, Boston University Chobanian & Avedisian School of Medicine, Boston, Massachusetts, USA.; Framingham Heart Study, Framingham, Massachusetts, USA., Wang H; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Bulekova K; Research Computing Services, Information Services & Technology, Boston University, Boston, Massachusetts, USA., Kuzma AB; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Leung YY; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Farrell JJ; Biomedical Genetics, Department of Medicine, Boston University Medical School, Boston, Massachusetts, USA., Lin H; Department of Medicine, University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA., Kunkle BW; John P. Hussman Institute for Human Genomics, Miami, Florida, USA.; John T. Macdonald Department of Human Genetics, Miami, Florida, USA., Naj A; Department of Biostatistics, Epidemiology, and Informatics, Department of Pathology and Laboratory Medicine, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Blue EE; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA.; Brotman Baty Institute for Precision Medicine, Seattle, Washington, USA., Nusetor F; Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA., Wang D; Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA., Boerwinkle E; Department of Epidemiology, Human Genetics and Environmental Sciences, School of Public Health, University of Texas Health Science Center at Houston, Houston, Texas, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas, USA., Bush WS; Cleveland Institute for Computational Biology, Cleveland, Ohio, USA.; Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, Ohio, USA., Zhang X; Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA.; Biomedical Genetics, Department of Medicine, Boston University Medical School, Boston, Massachusetts, USA., De Jager PL; Center for Translational and Computational Neuroimmunology, Columbia University Medical Center, New York, New York, USA., Dupuis J; Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA.; Department of Epidemiology, Biostatistics and Occupational Health, McGill University, Montréal, Quebec, Canada., Farrer LA; Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA.; Department of Neurology, Boston University Chobanian & Avedisian School of Medicine, Boston, Massachusetts, USA.; Framingham Heart Study, Framingham, Massachusetts, USA.; Biomedical Genetics, Department of Medicine, Boston University Medical School, Boston, Massachusetts, USA.; Department of Ophthalmology, Department of Medicine, Boston University Medical School, Boston, Massachusetts, USA.; Department of Epidemiology, Boston University School of Public Health, Boston, Massachusetts, USA., Fornage M; Brown Foundation Institute of Molecular Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA.; Human Genetics Center, School of Public Health, University of Texas Health Science Center at Houston, Houston, Texas, USA., Martin E; John P. Hussman Institute for Human Genomics, Miami, Florida, USA.; John T. Macdonald Department of Human Genetics, Miami, Florida, USA.; University of Miami Miller School of Medicine, Miami, Florida, USA., Pericak-Vance M; John P. Hussman Institute for Human Genomics, Miami, Florida, USA.; John T. Macdonald Department of Human Genetics, Miami, Florida, USA.; University of Miami Miller School of Medicine, Miami, Florida, USA., Seshadri S; Glenn Biggs Institute for Alzheimer's & Neurodegenerative Diseases, University of Texas Health Science Center, San Antonio, Texas, USA., Wijsman EM; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA.; Department of Biostatistics, University of Washington, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington, Seattle, Washington, USA., Wang LS; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Schellenberg GD; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Penn Neurodegeneration Genomics Center, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Destefano AL; Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA.; Department of Neurology, Boston University Chobanian & Avedisian School of Medicine, Boston, Massachusetts, USA., Haines JL; Cleveland Institute for Computational Biology, Cleveland, Ohio, USA.; Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, Ohio, USA., Peloso GM; Department of Biostatistics, Boston University School of Public Health, Boston, Massachusetts, USA.

Publikováno v: Alzheimer's & dementia : the journal of the Alzheimer's Association [Alzheimers Dement] 2024 Oct 20. Date of Electronic Publication: 2024 Oct 20.

Advancements in APOE and dementia research: Highlights from the 2023 AAIC Advancements: APOE conference.

Autor: Kloske CM; Alzheimer's Association, Chicago, Illinois, USA., Belloy ME; Department of Neurology and Neurological Sciences, Stanford University, Stanford, Palo Alto, California, USA.; NeuroGenomics and Informatics Center, Washington University School of Medicine, St. Louis, Missouri, USA.; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, St. Louis, Missouri, USA., Blue EE; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, USA.; Institute for Public Health Genetics, University of Washington, Seattle, Washington, USA., Bowman GR; Departments of Biochemistry & Biophysics and Bioengineering, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Carrillo MC; Alzheimer's Association, Chicago, Illinois, USA., Chen X; Department of Neurology, Hope Center for Neurological Disorders, Knight Alzheimer's Disease Research Center, Washington University School of Medicine, St. Louis, Missouri, USA., Chiba-Falek O; Division of Translational Brain Sciences, Department of Neurology, Duke University School of Medicine, Durham, North Carolina, USA., Davis AA; Department of Neurology Hope Center for Neurological Disorders Washington University School of Medicine, St. Louis, Missouri, USA., Paolo GD; Denali Therapeutics Inc., San Francisco, California, USA., Garretti F; Ronald M. Loeb Center for Alzheimer's Disease, New York, New York, USA.; Department of Genetics & Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Gate D; The Ken & Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Golden LR; Department of Physiology, University of Kentucky, Lexington, Kentucky, USA.; Sanders-Brown Center on Aging, University of Kentucky, Lexington, Kentucky, USA., Heinecke JW; Department of Medicine, University of Washington, UV Medicine, Seattle, Washington, USA., Herz J; Center for Translational Neurodegeneration Research, University of Texas Southwestern Medical Center, Dallas, Texas, USA., Huang Y; Gladstone Institute of Neurological Disease, Gladstone Institutes, San Francisco, California, USA.; Department of Neurology, University of California, San Francisco, California, USA., Iadecola C; Feil Family Brain and Mind Research Institute, Weill Cornell Medicine, New York, New York, USA., Johnson LA; Department of Physiology, University of Kentucky, Lexington, Kentucky, USA.; Sanders-Brown Center on Aging, University of Kentucky, Lexington, Kentucky, USA., Kanekiyo T; Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA., Karch CM; Department of Psychiatry, Washington University in St Louis, St. Louis, Missouri, USA., Khvorova A; RNA Therapeutic Institute, UMass Chan Medical School, Worcester, Massachusetts, USA., Koppes-den Hertog SJ; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), VU University Amsterdam, Amsterdam, USA.; Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience, Amsterdam University Medical Center, Amsterdam, USA., Lamb BT; Stark Neurosciences Research Institute Indiana University School of Medicine, Indianapolis, Indiana, USA., Lawler PE; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, St. Louis, Missouri, USA.; The Tracy Family SILQ Center, Washington University School of Medicine, Indianapolis, Indiana, USA., Guen YL; Department of Neurology and Neurological Sciences, Stanford University, Palo Alto, California, USA.; Institut du Cerveau-Paris Brain Institute-ICM, Paris, France., Litvinchuk A; Department of Neurology, Hope Center for Neurological Disorders, Knight Alzheimer's Disease Research Center, Washington University School of Medicine, St. Louis, Missouri, USA., Liu CC; Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA., Mahinrad S; Alzheimer's Association, Chicago, Illinois, USA., Marcora E; Department of Genetics and Genomic Sciences, Nash Family Department of Neuroscience, Icahn Genomics Institute; Icahn School of Medicine at Mount Sinai, New York, New York, USA., Marino C; Schepens Eye Research Institute of Mass Eye and Ear and Department of Ophthalmology at Harvard Medical School, Boston, Massachusetts, USA., Michaelson DM; Sagol School of Neuroscience Tel Aviv University, Tel Aviv, Israel., Miller JJ; Departments of Biochemistry & Biophysics and Bioengineering, University of Pennsylvania, Philadelphia, Pennsylvania, USA.; Department of Biochemistry and Molecular Biophysics, Washington University School of Medicine, St. Louis, Missouri, USA., Morganti JM; Sanders-Brown Center on Aging, University of Kentucky, Lexington, Kentucky, USA.; Department of Neuroscience, University of Kentucky, Lexington, Kentucky, USA., Narayan PS; Genetics and Biochemistry Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institute of Neurological Disorders and Stroke, Center for Alzheimer's and Related Dementias (CARD), National Institutes of Health, Maryland, USA., Naslavsky MS; Human Genome and Stem-cell Research Center, Biosciences Institute, University of São Paulo, Rua do Matao, São Paulo, Brazil.; Hospital Israelita Albert Einstein, Avenida Albert Einstein, São Paulo, Brazil., Oosthoek M; Neurochemistry Laboratory, Department of Laboratory Medicine, Vrije Universiteit Amsterdam, Amsterdam UMC, Amsterdam, Netherlands., Ramachandran KV; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Vagelos College of Physicians and Surgeons, New York, New York, USA.; Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.; Department of Neuroscience, Columbia University Vagelos College of Physicians and Surgeons, New York, USA., Ramakrishnan A; The Ken & Ruth Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Raulin AC; Mayo Clinic Florida, Jacksonville, Florida, USA., Robert A; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), VU University Amsterdam, Amsterdam, USA.; Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience, Amsterdam University Medical Center, Amsterdam, USA., Saleh RNM; Norwich Medical School, University of East Anglia, UK Clinical and Chemical Pathology, Norfolk, UK.; Faculty of Medicine, Alexandria University, Alexandria Governorate, Egypt., Sexton C; Alzheimer's Association, Chicago, Illinois, USA., Shah N; Lexeo Therapeutics, New York, New York, USA., Shue F; Mayo Clinic Florida, Jacksonville, Florida, USA., Sible IJ; University of Southern California, Los Angeles, California, USA., Soranno A; Washington University in Saint Louis, St. Louis, Missouri, USA, St. Louis, Missouri, USA., Strickland MR; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri, St. Louis, Missouri, USA., Tcw J; Department of Pharmacology, Physiology & Biophysics, Chobanian and Avedisian School of Medicine, Boston University, Boston, Massachusetts, USA.; Bioinformatics Program, Faculty of Computing & Data Sciences, Boston University, Boston, Massachusetts, USA., Thierry M; Center for Cognitive Neurology, Department of Neurology, New York University Grossman School of Medicine, New York, New York, USA., Tsai LH; Picower Institute for Learning and Memory, Department of Brain and Cognitive Sciences, Massachusetts Institute of Technology, Cambridge, Massachusetts, USA., Tuckey RA; Department of Neurology, Center for Neurodegeneration and Experimental Therapeutics, Medical Scientist Training Program, University of Alabama at Birmingham, Birmingham, Alabama, USA., Ulrich JD; Department of Neurology, Hope Center for Neurological Disorders, Knight Alzheimer's Disease Research Center, Washington University School of Medicine, St. Louis, Missouri, USA., van der Kant R; Department of Functional Genomics, Center for Neurogenomics and Cognitive Research (CNCR), VU University Amsterdam, Amsterdam, USA.; Alzheimer Center Amsterdam, Department of Neurology, Amsterdam Neuroscience, Amsterdam University Medical Center, Amsterdam, USA., Wang N; Mayo Clinic Rochester, Rochester, Minnesota, USA., Wellington CL; Djavad Mowafaghian Centre for Brain Health Department of Pathology and Laboratory Medicine International Collaboration on Repair Discoveries School of Biomedical Engineering University of British Columbia, Vancouver, Canada., Weninger SC; FBRI, Massachusetts, USA., Yassine HN; Department of Neurology, Keck School of Medicine, University of Southern California, Los Angeles, California, USA., Zhao N; Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, Florida, USA., Bu G; Division of Life Science, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong., Goate AM; Department of Genetics & Genomic Sciences, Ronald M. Loeb Center for Alzheimer's disease, Icahn School of Medicine at Mount Sinai, New York, New York, USA., Holtzman DM; Department of Neurology, Hope Center for Neurological Disorders, Knight Alzheimer's Disease Research Center, Washington University School of Medicine, St. Louis, Missouri, USA.

Publikováno v: Alzheimer's & dementia : the journal of the Alzheimer's Association [Alzheimers Dement] 2024 Sep; Vol. 20 (9), pp. 6590-6605. Date of Electronic Publication: 2024 Jul 19.

Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.

Autor: Plowman JN; Department of Pharmacology and Neuroscience, Creighton University, Omaha, NE 68178, USA., Matoy EJ; Department of Pharmacology and Neuroscience, Creighton University, Omaha, NE 68178, USA., Uppala LV; Department of Pharmacology and Neuroscience, Creighton University, Omaha, NE 68178, USA., Draves SB; Department of Pharmacology and Neuroscience, Creighton University, Omaha, NE 68178, USA., Watson CJ; Creighton University Core Facilities, Creighton University, Omaha, NE 68178, USA., Sefranek BA; Creighton University Core Facilities, Creighton University, Omaha, NE 68178, USA., Stacey ML; Creighton University Core Facilities, Creighton University, Omaha, NE 68178, USA., Anderson SP; Creighton University Core Facilities, Creighton University, Omaha, NE 68178, USA., Belshan MA; Department of Medical Microbiology and Immunology, Creighton University, Omaha, NE 68178, USA., Blue EE; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, WA 98195, USA; Institute for Public Health Genetics, University of Washington, Seattle, WA 98195, USA; Brotman Baty Institute, Seattle, WA 98195, USA., Huff CD; Department of Epidemiology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA., Fu Y; Department of Biomedical Sciences, Creighton University, Omaha, NE 68178, USA., Stessman HAF; Department of Pharmacology and Neuroscience, Creighton University, Omaha, NE 68178, USA; Creighton University Core Facilities, Creighton University, Omaha, NE 68178, USA. Electronic address: hollystessman@creighton.edu.

Publikováno v: HGG advances [HGG Adv] 2024 Jul 18; Vol. 5 (3), pp. 100306. Date of Electronic Publication: 2024 May 10.

Key variants via the Alzheimer's Disease Sequencing Project whole genome sequence data.

Autor: Wang Y; Department of Biostatistics, Boston University, School of Public Health, Boston, Massachusetts, USA., Sarnowski C; Department of Biostatistics, Boston University, School of Public Health, Boston, Massachusetts, USA.; Human Genetics Center, Department of Epidemiology, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA., Lin H; Department of Medicine, University of Massachusetts Chan Medical School, Worcester, Massachusetts, USA., Pitsillides AN; Department of Biostatistics, Boston University, School of Public Health, Boston, Massachusetts, USA., Heard-Costa NL; Department of Biostatistics, Boston University, School of Public Health, Boston, Massachusetts, USA.; The Framingham Heart Study, Framingham, Massachusetts, USA., Choi SH; Department of Biostatistics, Boston University, School of Public Health, Boston, Massachusetts, USA., Wang D; Department of Biostatistics, Boston University, School of Public Health, Boston, Massachusetts, USA., Bis JC; Cardiovascular Health Research Unit, Department of Medicine, University of Washington, Seattle, Washington, USA., Blue EE; Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington, USA.; Brotman Baty Institute, Seattle, Washington, USA., Boerwinkle E; Human Genetics Center, Department of Epidemiology, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA., De Jager PL; Center for Translational & Computational Neuroimmunology, Department of Neurology, Columbia University Irving Medical Center, New York, New York, USA.; Taub Institute for Research on Alzheimer's Disease and the Aging Brain, Columbia University Irving Medical Center, New York, New York, USA., Fornage M; Human Genetics Center, Department of Epidemiology, School of Public Health, The University of Texas Health Science Center at Houston, Houston, Texas, USA.; Brown Foundation Institute of Molecular Medicine, McGovern Medical School, University of Texas Health Science Center at Houston, Houston, Texas, USA., Wijsman EM; Division of Medical Genetics and Department Biostatistics Statistical Genetics Lab, University of Washington, Hans Rosling Center for Population Health, Seattle, Washington, USA., Seshadri S; The Framingham Heart Study, Framingham, Massachusetts, USA.; Glenn Biggs Institute for Alzheimer's & Neurodegenerative Diseases, The University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA.; Department of Neurology, Boston University School of Medicine, Boston, Massachusetts, USA., Dupuis J; Department of Biostatistics, Boston University, School of Public Health, Boston, Massachusetts, USA.; Department of Epidemiology, Biostatistics and Occupational Health, School of Population and Global Health, McGill University, Montreal, Quebec, Canada., Peloso GM; Department of Biostatistics, Boston University, School of Public Health, Boston, Massachusetts, USA., DeStefano AL; Department of Biostatistics, Boston University, School of Public Health, Boston, Massachusetts, USA.; The Framingham Heart Study, Framingham, Massachusetts, USA.

Publikováno v: Alzheimer's & dementia : the journal of the Alzheimer's Association [Alzheimers Dement] 2024 May; Vol. 20 (5), pp. 3290-3304. Date of Electronic Publication: 2024 Mar 21.

Dual diagnosis of UQCRFS1 -related mitochondrial complex III deficiency and recessive GJA8 -related cataracts.

Autor: Blue EE; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.; Institute for Public Health Genetics, University of Washington, Seattle, WA 98195, USA.; Brotman Baty Institute, Seattle, WA 98195, USA., Huang SJ; Department of Medical Genetics, Marshfield Clinic, Marshfield, WI 54449, USA., Khan A; Institute for Public Health Genetics, University of Washington, Seattle, WA 98195, USA., Golden-Grant K; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Boyd B; Department of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA., Rosenthal EA; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Gillentine MA; Department of Laboratories, Seattle Children's Hospital, Seattle, WA 98105, USA., Fleming LR; Department of Genetics, Saint Luke's Genetics and Metabolic Clinic, Boise, ID 83712, USA., Adams DR; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA., Wolfe L; NIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA., Allworth A; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Bamshad MJ; Brotman Baty Institute, Seattle, WA 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Caruana NJ; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia., Chanprasert S; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Chen J; Institute for Public Health Genetics, University of Washington, Seattle, WA 98195, USA., Dargie N; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Doherty D; Brotman Baty Institute, Seattle, WA 98195, USA.; Division of Developmental Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA., Friederich MW; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Center, Aurora, CO 80045, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA., Hisama FM; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Horike-Pyne M; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Lee JC; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Center, Aurora, CO 80045, USA., Donovan TE; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA., Hock DH; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, VIC, Australia., Leppig KA; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Miller DE; Brotman Baty Institute, Seattle, WA 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA., Mirzaa G; Brotman Baty Institute, Seattle, WA 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA., Ranchalis J; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Raskind WH; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Michel CR; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Reisdorph R; Department of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Schwarze U; Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA., Sheppeard S; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Strohbehn S; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Stroud DA; Department of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia.; Murdoch Children's Research Institute, Royal Children's Hospital, Parkville, VIC, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Parkville, VIC, Australia., Sybert VP; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA., Wener MH; Department of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA.; Department of Rheumatology, University of Washington, Seattle, WA 98195, USA., Stergachis AB; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.; Brotman Baty Institute, Seattle, WA 98195, USA.; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Lam CT; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA 98105, USA., Jarvik GP; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.; Brotman Baty Institute, Seattle, WA 98195, USA.; Department of Genome Sciences, University of Washington, Seattle, WA 98195, USA., Dipple KM; Brotman Baty Institute, Seattle, WA 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.; Center for Clinical and Translational Research, Seattle Children's Research Institute, Seattle, WA 98105, USA., Van Hove JLK; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Center, Aurora, CO 80045, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA., Glass IA; Brotman Baty Institute, Seattle, WA 98195, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.

Publikováno v: Rare (Amsterdam, Netherlands) [Rare] 2024; Vol. 2. Date of Electronic Publication: 2024 Aug 14.