Zobrazeno 1 - 10
of 80
pro vyhledávání: '"Chong JX"'
Autor:
Karczewski, KJ, Francioli, LC, Tiao, G, Cummings, BB, Alföldi, J, Wang, Q, Collins, RL, Laricchia, KM, Ganna, A, Birnbaum, DP, Gauthier, LD, Brand, H, Solomonson, M, Watts, NA, Rhodes, D, Singer-Berk, M, England, EM, Seaby, EG, Kosmicki, JA, Walters, RK, Tashman, K, Farjoun, Y, Banks, E, Poterba, T, Wang, A, Seed, C, Whiffin, N, Chong, JX, Samocha, KE, Pierce-Hoffman, E, Zappala, Z, O’Donnell-Luria, AH, Vallabh Minikel, E, Weisburd, B, Lek, M, Ware, JS, Vittal, C, Armean, IM, Bergelson, L, Cibulskis, K, Connolly, JM, Covarrubias, M, Donnelly, S, Ferriera, S, Gabriel, S, Gentry, J, Gupta, N, Jeandet, T, Kaplan, D, Llanwarne, C, Munshi, J, Novod, S, Petrillo, N, Roazen, D, Ruano-Rubio, V, Saltzman, A, Schleicher, M, Soto, J, Tibbetts, K, Tolonen, C, Wade, G, Talkowski, ME, Genome Aggregation Database (gnomAD) Consortium, Neale, BM, Daly, MJ, MacArthur, DG
Publikováno v:
Nature
Genetic variants that inactivate protein-coding genes are a powerful source of information about the phenotypic consequences of gene disruption: genes that are crucial for the function of an organism will be depleted of such variants in natural popul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6347c7a6a3b85daab7617d0e0fc1f8ca
https://trepo.tuni.fi/handle/10024/128033
https://trepo.tuni.fi/handle/10024/128033
Autor:
Gudmundsson, S, Karczewski, KJ, Francioli, LC, Tiao, G, Cummings, BB, Alfoldi, J, Wang, Q, Collins, RL, Laricchia, KM, Ganna, A, Birnbaum, DP, Gauthier, LD, Brand, H, Solomonson, M, Watts, NA, Rhodes, D, Singer-Berk, M, England, EM, Seaby, EG, Kosmicki, JA, Walters, RK, Tashman, K, Farjoun, Y, Banks, E, Poterba, T, Wang, A, Seed, C, Whiffin, N, Chong, JX, Samocha, KE, Pierce-Hoffman, E, Zappala, Z, O'Donnell-Luria, AH, Minikel, EV, Weisburd, B, Lek, M, Ware, JS, Vittal, C, Armean, IM, Bergelson, L, Cibulskis, K, Connolly, KM, Covarrubias, M, Donnelly, S, Ferriera, S, Gabriel, S, Gentry, J, Gupta, N, Jeandet, T, Kaplan, D, Llanwarne, C, Munshi, R, Novod, S, Petrillo, N, Roazen, D, Ruano-Rubio, V, Saltzman, A, Schleicher, M, Soto, J, Tibbetts, K, Tolonen, C, Wade, G, Talkowski, ME, Neale, BM, Daly, MJ, MacArthur, DG
Publikováno v:
E4
E3
E3
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1032::1e8be7f3028cd4fe32f1efd8dec51c61
http://hdl.handle.net/10044/1/95288
http://hdl.handle.net/10044/1/95288
Autor:
Ralph S. Lachman, Pavel Krejci, Wenjuan Zhang, S. Paige Taylor, Maya Barad, Deborah Krakow, Deborah A. Nickerson, Jennifer Zieba, Ivan Duran, Michael J. Bamshad, Michaela Bosakova, Jessica X. Chong, Daniel H. Cohn, Fabiana Csukasi, Jorge H. Martin
Publikováno v:
EBioMedicine, Vol 62, Iss, Pp 103075-(2020)
EBioMedicine
EBioMedicine
Background Beyond its structural role in the skeleton, the extracellular matrix (ECM), particularly basement membrane proteins, facilitates communication with intracellular signaling pathways and cell to cell interactions to control differentiation,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d989b370d4b5d0b2bd3305873b164b3
https://escholarship.org/uc/item/61z468bp
https://escholarship.org/uc/item/61z468bp
Autor:
Furia F; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark., Levy AM; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Copenhagen, Denmark., Theunis M; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Bamshad MJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, University of Washington, Seattle, Washington, USA.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, USA., Bartos MN; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, The Netherlands., Brancati F; Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy.; Human Functional Genetics Laboratory, Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele Roma, Rome, Italy., Cejudo L; CHU de Poitiers, Service de Génétique, Poitiers, France., Chong JX; Department of Pediatrics, Division of Genetic Medicine, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, University of Washington, Seattle, Washington, USA., De Luca C; Human Genetics, Department of Life, Health and Environmental Sciences, University of L'Aquila, L'Aquila, Italy., Dean SJ; Department of Genetics, The University of Alabama at Birmingham, Birmingham, Alabama, USA., Egense A; Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, California, USA., Goel H; General Genetics Service, Hunter Genetics, Waratah, New South Wales, Australia.; School of Medicine and Public Health, College of Health, Medicine and Wellbeing, University of Newcastle, Callaghan, New South Wales, Australia., Guenzel AJ; GeneDx Inc., Gaithersburg, Maryland, USA., Hüffmeier U; Institute of Human Genetics, Universitätsklinikum Erlangen, FAU Erlangen-Nürnberg, Erlangen, Germany., Legius E; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Marcos-Alcalde I; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain., Niclass T; CHU de Poitiers, Service de Génétique, Poitiers, France., Planes M; Service de Génétique Clinique, CHRU de Brest, Brest, France., Redon S; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, INSERM, Etablissement Français du Sang, UMR 1078, Brest, France., Ros-Pardo D; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain., Rouault K; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Université de Brest, INSERM, Etablissement Français du Sang, UMR 1078, Brest, France., Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Schuhmann S; Institute of Human Genetics, Universitätsklinikum Erlangen, FAU Erlangen-Nürnberg, Erlangen, Germany., Shen JJ; Division of Genomic Medicine, Department of Pediatrics, University of California Davis, Sacramento, California, USA., Tao AM; Vagelos School of Physicians and Surgeons, Columbia University, New York, New York, USA., Thiffault I; Department of Pathology, Children's Mercy Kansas City, Kansas City, Missouri, USA.; Genomic Medicine Center, Children's Mercy Kansas City, Kansas City, Missouri, USA., Van Esch H; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium.; Laboratory for the Genetics of Cognition, KU Leuven, Leuven, Belgium., Wentzensen IM; GeneDx Inc., Gaithersburg, Maryland, USA., Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC University Medical Center, Rotterdam, The Netherlands.; Discovery Unit, Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands., Møller RS; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark., Gomez-Puertas P; Molecular Modeling Group, Centro de Biología Molecular Severo Ochoa (CBM, CSIC-UAM), Madrid, Spain., Chung WK; Department of Pediatrics, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, Massachusetts, USA., Gardella E; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Centre, Dianalund, Denmark.; Faculty of Health Science, University of Southern Denmark (SDU), Odense, Denmark.; Department of Neurophysiology, The Danish Epilepsy Centre, Dianalund, Denmark., Tümer Z; Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Copenhagen, Denmark.; Department of Clinical Medicine, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Publikováno v:
Clinical genetics [Clin Genet] 2024 Jul 11. Date of Electronic Publication: 2024 Jul 11.
Autor:
Blue EE; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, Washington, USA.; Brotman-Baty Institute for Precision Medicine, Seattle, Washington, USA., Moore KJ; Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., North KE; Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Desrosiers TA; Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Carmichael SL; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA., White JJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA., Chong JX; Brotman-Baty Institute for Precision Medicine, Seattle, Washington, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA., Bamshad MJ; Brotman-Baty Institute for Precision Medicine, Seattle, Washington, USA.; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, Washington, USA.; Division of Genetic Medicine, Seattle Children's Hospital, Seattle, Washington, USA.; Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington, USA., Jenkins MM; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA., Almli LM; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA., Brody LC; Division of Genomics and Society, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Freedman SF; Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina, USA., Reefhuis J; National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, Atlanta, Georgia, USA., Romitti PA; Department of Epidemiology, College of Public Health, The University of Iowa, Iowa City, Iowa, USA., Shaw GM; Department of Pediatrics, Stanford University School of Medicine, Stanford, California, USA., Werler M; Department of Epidemiology, School of Public Health, Boston University, Boston, Massachusetts, USA.; Slone Epidemiology Center at Boston University, Boston, Massachusetts, USA., Kay DM; Division of Genetics, Wadsworth Center, New York State Department of Health, Albany, New York, USA., Browne ML; New York State Department of Health, Birth Defects Registry, Albany, New York, USA.; Department of Epidemiology and Biostatistics, University at Albany School of Public Health, Rensselaer, New York, USA., Feldkamp ML; Division of Medical Genetics, Department of Pediatrics, University of Utah School of Medicine, Salt Lake City, Utah, USA., Finnell RH; Center for Precision Environmental Health, Departments of Molecular and Cellular Biology and Medicine, Baylor College of Medicine, Houston, Texas, USA., Nembhard WN; Department of Epidemiology, University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA., Pangilinan F; Division of Genomics and Society, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA., Olshan AF; Department of Epidemiology, Gillings School of Global Public Health, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Publikováno v:
Birth defects research [Birth Defects Res] 2024 Jul; Vol. 116 (7), pp. e2384.
Autor:
Chong JX, Berger SI, Baxter S, Smith E, Xiao C, Calame DG, Hawley MH, Rivera-Munoz EA, DiTroia S, Bamshad MJ, Rehm HL
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jun 26, pp. 101199. Date of Electronic Publication: 2024 Jun 26.
Autor:
Danis D; The Jackson Institute for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Bamshad MJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 357371, Seattle, WA 98195, USA.; Brotman-Baty Institute for Precision Medicine, 1959 NE Pacific Street, Box 357657, Seattle WA 98195, USA.; Department of Pediatrics, Division of Genetic Medicine, Seattle Children's Hospital, Seattle, WA 98195, USA., Bridges Y; William Harvey Research Institute, Queen Mary University of London, London, UK., Cacheiro P; William Harvey Research Institute, Queen Mary University of London, London, UK., Carmody LC; The Jackson Institute for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA., Chong JX; Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 357371, Seattle, WA 98195, USA.; Brotman-Baty Institute for Precision Medicine, 1959 NE Pacific Street, Box 357657, Seattle WA 98195, USA., Coleman B; Department of Genetics and Genome Sciences, University of Connecticut Health Center, Farmington, CT, USA.; The Jackson Institute for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA., Dalgleish R; Department of Genetics and Genome Biology, University of Leicester, Leicester, UK., Freeman PJ; Division of Informatics, Imaging and Data Science, The University of Manchester, Manchester, UK., Graefe ASL; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Groza T; Rare Care Centre, Perth Children's Hospital, Nedlands, WA 6009, Australia.; SingHealth Duke-NUS Institute of Precision Medicine, 5 Hospital Drive Level 9, Singapore 169609, Singapore.; Telethon Kids Institute, Nedlands, WA 6009, Australia., Jacobsen JOB; William Harvey Research Institute, Queen Mary University of London, London, UK., Klocperk A; Department of Immunology, 2nd Faculty of Medicine, Charles University and University Hospital in Motol, Prague, Czech Republic., Kusters M; Department of Paediatric Immunology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.; University College London Institute of Child Health, London, United Kingdom., Ladewig MS; Department of Ophthalmology, University Clinic Marburg - Campus Fulda, Fulda, Germany., Marcello AJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 357371, Seattle, WA 98195, USA., Mattina T; Medica Genetics University of Catania Italy.; Morgagni foundation and Clinic, Catania, Italy., Mungall CJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Munoz-Torres MC; Department of Biomedical Informatics, University of Colorado Anschutz Medical Ccampus., Reese JT; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Rehburg F; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Reis BCS; Department of Immunology, National Institute of Women's, Children's and Adolescents' Health Fernandes Figueira, Rio de Janeiro, Brazil.; High Complexity Laboratory, National Institute of Women's, Children's and Adolescents' Health Fernandes Figueira, Rio de Janeiro, Brazil., Schuetz C; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; University Center for Rare Diseases, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Smedley D; William Harvey Research Institute, Queen Mary University of London, London, UK., Strauss T; Department of Pediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; University Center for Rare Diseases, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany., Sundaramurthi JC; The Jackson Institute for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA., Thun S; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany., Wissink K; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; Utrecht University, Utrecht, the Netherlands., Wagstaff JF; University of Leicester, Leicester, UK., Zocche D; North West Thames Regional Genetics Service, Northwick Park & St Mark's Hospitals, London, UK., Haendel MA; University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Robinson PN; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Berlin, Germany.; The Jackson Institute for Genomic Medicine, 10 Discovery Drive, Farmington CT 06032, USA.; ELLIS-European Laboratory for Learning and Intelligent Systems.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2024 May 29. Date of Electronic Publication: 2024 May 29.
Autor:
Grasberger H; Department of Internal Medicine, Medical School, University of Michigan, Ann Arbor, MI, USA., Dumitrescu AM; Department of Medicine, The University of Chicago, Chicago, IL, USA.; Committee on Molecular Metabolism and Nutrition, The University of Chicago, Chicago, IL, USA., Liao XH; Department of Medicine, The University of Chicago, Chicago, IL, USA., Swanson EG; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Weiss RE; Department of Medicine, University of Miami Miller School of Medicine, Miami, FL, USA., Srichomkwun P; Department of Medicine, The University of Chicago, Chicago, IL, USA., Pappa T; Department of Medicine, The University of Chicago, Chicago, IL, USA., Chen J; Institute of Transformative Bio-Molecules (WPI-ITbM) and Graduate School of Bioagricultural Sciences, Nagoya University, Nagoya, Japan., Yoshimura T; Institute of Transformative Bio-Molecules (WPI-ITbM) and Graduate School of Bioagricultural Sciences, Nagoya University, Nagoya, Japan., Hoffmann P; Interuniversity Institute of Bioinformatics in Brussels, Université Libre de Bruxelles-Vrije Universiteit Brussel, Brussels, Belgium., França MM; Department of Medicine, The University of Chicago, Chicago, IL, USA., Tagett R; Michigan Medicine BRCF Bioinformatics Core, University of Michigan, Ann Arbor, MI, USA., Onigata K; Department of Medicine, The University of Chicago, Chicago, IL, USA., Costagliola S; Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Université Libre de Bruxelles, Brussels, Belgium., Ranchalis J; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Vollger MR; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA., Stergachis AB; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Brotman-Baty Institute for Precision Medicine, Seattle, WA, USA., Chong JX; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.; Brotman-Baty Institute for Precision Medicine, Seattle, WA, USA., Bamshad MJ; Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA, USA.; Department of Genome Sciences, University of Washington, Seattle, WA, USA.; Brotman-Baty Institute for Precision Medicine, Seattle, WA, USA., Smits G; Interuniversity Institute of Bioinformatics in Brussels, Université Libre de Bruxelles-Vrije Universiteit Brussel, Brussels, Belgium.; Center of Human Genetics, Hôpital Erasme, Hôpital Universitaire de Bruxelles, and Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium., Vassart G; Institut de Recherche Interdisciplinaire en Biologie Humaine et Moléculaire (IRIBHM), Université Libre de Bruxelles, Brussels, Belgium., Refetoff S; Department of Medicine, The University of Chicago, Chicago, IL, USA. refetoff@uchicago.edu.; Committee on Genetics, The University of Chicago, Chicago, IL, USA. refetoff@uchicago.edu.; Department of Pediatrics, The University of Chicago, Chicago, IL, USA. refetoff@uchicago.edu.
Publikováno v:
Nature genetics [Nat Genet] 2024 May; Vol. 56 (5), pp. 877-888. Date of Electronic Publication: 2024 May 07.
Autor:
Mori T; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan., Fujimaru T; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan., Liu C; Soong Ching Ling Institute of Maternal and Child Health, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; State Key Laboratory of Genetic Engineering, Institute of Medical Genetics and Genomics, Fudan University, Shanghai, China., Patterson K; Department of Genome Sciences, University of Washington, Seattle, WA, USA., Yamamoto K; Department of Comprehensive Pathology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan., Suzuki T; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan., Chiga M; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan., Sekine A; Department of Nephrology and Rheumatology, Toranomon Hospital, Japan.; Okinaka Memorial Institute for Medical Research, Toranomon Hospital, Tokyo, Japan., Ubara Y; Department of Nephrology and Rheumatology, Toranomon Hospital, Japan.; Okinaka Memorial Institute for Medical Research, Toranomon Hospital, Tokyo, Japan., Miller DE; Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 357371, Seattle, WA, 98195, USA.; Brotman-Baty Institute for Precision Medicine, 1959 NE Pacific Street, Box 357657, Seattle, WA, 98195, USA., Zalusky MP; Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 357371, Seattle, WA, 98195, USA., Mandai S; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan., Ando F; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan., Mori Y; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan., Kikuchi H; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan., Susa K; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan., Chong JX; Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 357371, Seattle, WA, 98195, USA.; Brotman-Baty Institute for Precision Medicine, 1959 NE Pacific Street, Box 357657, Seattle, WA, 98195, USA., Bamshad MJ; Department of Pediatrics, Division of Genetic Medicine, University of Washington, 1959 NE Pacific Street, Box 357371, Seattle, WA, 98195, USA.; Brotman-Baty Institute for Precision Medicine, 1959 NE Pacific Street, Box 357657, Seattle, WA, 98195, USA., Tan YQ; Institute of Reproductive and Stem Cell Engineering, NHC Key Laboratory of Human Stem Cell and Reproductive Engineering, School of Basic Medical Science, Central South University, Changsha, China.; Clinical Research Center for Reproduction and Genetics in Hunan Province, Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, China., Zhang F; Soong Ching Ling Institute of Maternal and Child Health, International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.; State Key Laboratory of Genetic Engineering, Institute of Medical Genetics and Genomics, Fudan University, Shanghai, China., Uchida S; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan., Sohara E; Department of Nephrology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2024 Apr 05. Date of Electronic Publication: 2024 Apr 05.
Autor:
Rahit KMTH; Departments of Biochemistry, Molecular Biology and Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, T2N 4N1, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, T2N 4N1, Canada., Avramovic V; Departments of Biochemistry, Molecular Biology and Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, T2N 4N1, Canada.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, T2N 4N1, Canada., Chong JX; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, 98195, USA.; Brotman-Baty Institute, Seattle, WA, 98195, USA., Tarailo-Graovac M; Departments of Biochemistry, Molecular Biology and Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, T2N 4N1, Canada. maja.tarailograovac@ucalgary.ca.; Alberta Children's Hospital Research Institute, University of Calgary, Calgary, AB, T2N 4N1, Canada. maja.tarailograovac@ucalgary.ca.
Publikováno v:
BMC bioinformatics [BMC Bioinformatics] 2024 Feb 27; Vol. 25 (1), pp. 84. Date of Electronic Publication: 2024 Feb 27.