المؤلفون: Stenton SL; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., O'Leary MC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Lemire G; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., VanNoy GE; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., DiTroia S; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Ganesh VS; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Groopman E; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., O'Heir E; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Mangilog B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Osei-Owusu I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Pais LS; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Serrano J; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Singer-Berk M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Weisburd B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Wilson MW; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Austin-Tse C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Abdelhakim M; Computer, Electrical and Mathematical Sciences and Engineering Division (CEMSE), King Abdullah University of Science and Technology (KAUST), 23955-6900, Thuwal, Saudi Arabia.; Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), 23955-6900, Thuwal, Saudi Arabia., Althagafi A; Computer, Electrical and Mathematical Sciences and Engineering Division (CEMSE), King Abdullah University of Science and Technology (KAUST), 23955-6900, Thuwal, Saudi Arabia.; Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), 23955-6900, Thuwal, Saudi Arabia.; Computer Science Department, College of Computers and Information Technology, Taif University, Taif, Saudi Arabia., Babbi G; Biocomputing Group, Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy., Bellazzi R; enGenome Srl, Pavia, Italy.; Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Pavia, Italy., Bovo S; Department of Agricultural and Food Sciences, University of Bologna, Bologna, Italy., Carta MG; Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Pavia, Italy., Casadio R; Biocomputing Group, Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy., Coenen PJ; Invitae, San Francisco, CA, USA.; Codon One, Louvain, EU, Belgium., De Paoli F; enGenome Srl, Pavia, Italy., Floris M; Department of Biomedical Sciences, University of Sassari, Sassari, Italy., Gajapathy M; Center for Computational Genomics and Data Science, The University of Alabama at Birmingham, Birmingham, AL, USA.; Department of Genetics, Heersink School of Medicine, The University of Alabama at Birmingham, Birmingham, AL, USA.; Hugh Kaul Precision Medicine Institute, The University of Alabama at Birmingham, Birmingham, AL, USA., Hoehndorf R; Computer, Electrical and Mathematical Sciences and Engineering Division (CEMSE), King Abdullah University of Science and Technology (KAUST), 23955-6900, Thuwal, Saudi Arabia.; Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), 23955-6900, Thuwal, Saudi Arabia., Jacobsen JOB; William Harvey Research Institute, Barts & The London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK., Joseph T; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Kamandula A; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Katsonis P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Kint C; Invitae, San Francisco, CA, USA., Lichtarge O; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Structural and Computational Biology and Molecular Biophysics Program, Baylor College of Medicine, Houston, TX, USA.; Computational and Integrative Biomedical Research Center, Baylor College of Medicine, Houston, TX, USA., Limongelli I; enGenome Srl, Pavia, Italy., Lu Y; Center for Molecular Medicine, Pediatric Research Institute, Children's Hospital of Fudan University, Shanghai, China., Magni P; Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Pavia, Italy., Mamidi TKK; Center for Computational Genomics and Data Science, The University of Alabama at Birmingham, Birmingham, AL, USA.; Department of Genetics, Heersink School of Medicine, The University of Alabama at Birmingham, Birmingham, AL, USA.; Hugh Kaul Precision Medicine Institute, The University of Alabama at Birmingham, Birmingham, AL, USA., Martelli PL; Biocomputing Group, Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy., Mulargia M; Department of Biomedical Sciences, University of Sassari, Sassari, Italy., Nicora G; enGenome Srl, Pavia, Italy.; Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Pavia, Italy., Nykamp K; Invitae, San Francisco, CA, USA., Pejaver V; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Peng Y; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Pham THC; University of Medicine and Pharmacy, Hue University, Hue, Vietnam., Podda MS; Department of Biomedical Sciences, University of Sassari, Sassari, Italy.; Institute of Clinical Physiology (IFC), CNR, Via Moruzzi 1, 56124, Pisa, Italy.; University of Siena, Siena, Italy.; CTGLab, Institute of Informatics and Telematics (IIT), CNR, ViaMoruzzi 1, 56124, Pisa, Italy., Rao A; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Rizzo E; enGenome Srl, Pavia, Italy., Saipradeep VG; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Savojardo C; Biocomputing Group, Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy., Schols P; Invitae, San Francisco, CA, USA.; Codon One, Louvain, EU, Belgium., Shen Y; Department of Electrical and Computer Engineering, Texas A&M University, College Station, TX, USA.; Department of Computer Science and Engineering, Texas A&M University, College Station, TX, USA.; Institute of Biosciences and Technology and Department of Translational Medical Sciences, College of Medicine, Texas A&M University, Houston, TX, USA., Sivadasan N; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Smedley D; William Harvey Research Institute, Barts & The London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK., Soru D; Independent Consultant, Ovodda, Italy., Srinivasan R; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Sun Y; Department of Electrical and Computer Engineering, Texas A&M University, College Station, TX, USA., Sunderam U; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Tan W; Department of Electrical and Computer Engineering, Texas A&M University, College Station, TX, USA., Tiwari N; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Wang X; Center for Molecular Medicine, Pediatric Research Institute, Children's Hospital of Fudan University, Shanghai, China., Wang Y; Center for Molecular Medicine, Pediatric Research Institute, Children's Hospital of Fudan University, Shanghai, China., Williams A; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Worthey EA; Center for Computational Genomics and Data Science, The University of Alabama at Birmingham, Birmingham, AL, USA.; Department of Genetics, Heersink School of Medicine, The University of Alabama at Birmingham, Birmingham, AL, USA.; Hugh Kaul Precision Medicine Institute, The University of Alabama at Birmingham, Birmingham, AL, USA., Yin R; Department of Electrical and Computer Engineering, Texas A&M University, College Station, TX, USA., You Y; Department of Electrical and Computer Engineering, Texas A&M University, College Station, TX, USA., Zeiberg D; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Zucca S; enGenome Srl, Pavia, Italy., Bakolitsa C; Department of Plant and Microbial Biology and Center for Computational Biology, University of California, Berkeley, CA, USA., Brenner SE; Department of Plant and Microbial Biology and Center for Computational Biology, University of California, Berkeley, CA, USA., Fullerton SM; Department of Bioethics and Humanities, University of Washington School of Medicine, Seattle, WA, USA., Radivojac P; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., O'Donnell-Luria A; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. odonnell@broadinstitute.org.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. odonnell@broadinstitute.org.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. odonnell@broadinstitute.org.

المصدر: Human genomics [Hum Genomics] 2024 Apr 29; Vol. 18 (1), pp. 44. Date of Electronic Publication: 2024 Apr 29.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: BioMed Central Country of Publication: England NLM ID: 101202210 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-7364 (Electronic) Linking ISSN: 14739542 NLM ISO Abbreviation: Hum Genomics Subsets: MEDLINE

مواضيع طبية MeSH: Rare Diseases*/genetics , Rare Diseases*/diagnosis, Humans ; Genome, Human/genetics ; Genetic Variation/genetics ; Computational Biology/methods ; Phenotype

المؤلفون: Ansari M; South East Scotland Genetic Service, Western General Hospital, Edinburgh, UK; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Faour KNW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, USA., Shimamura A; Division of Hematology and Oncology, Boston Children's Hospital, Boston, MA, USA., Grimes G; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Kao EM; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, USA., Denhoff ER; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, USA., Blatnik A; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK; Department of Clinical Cancer Genetics, Institute of Oncology Ljubljana, Ljubljana, Slovenia., Ben-Isvy D; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Medical Sciences, Harvard Medical School, Boston, MA, USA., Wang L; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Medical Sciences, Harvard Medical School, Boston, MA, USA., Helm BM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Firth H; Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK., Breman AM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, the Netherlands., Iwata-Otsubo A; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, USA., de Ravel TJL; Centre for Human Genetics, UZ Leuven/Leuven University Hospitals, Leuven, Belgium., Fusaro V; Invitae, San Francisco, CA, USA., Fryer A; Department of Clinical Genetics, Alder Hey Children's Hospital Liverpool, Liverpool, UK., Nykamp K; Invitae, San Francisco, CA, USA., Stühn LG; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Korenke GC; Department of Neuropaediatric and Metabolic Diseases, University Children's Hospital Oldenburg, Oldenburg, Germany., Constantinou P; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., Bujakowska KM; Massachusetts Eye and Ear Infirmary, Boston, MA, USA., Low KJ; University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK; University of Bristol, Bristol, UK., Place E; Massachusetts Eye and Ear Infirmary, Boston, MA, USA., Humberson J; University of Virginia Health System, Charlottesville, VA, USA., Napier MP; GeneDx, Gaithersburg, MD, USA., Hoffman J; GeneDx, Gaithersburg, MD, USA., Juusola J; GeneDx, Gaithersburg, MD, USA., Deardorff MA; Departments of Pathology and Pediatrics, Children's Hospital Los Angeles and University of Southern California, Los Angeles, CA, USA., Shao W; Research Computing, Information Technology, Boston Children's Hospital, Boston, MA, USA., Rockowitz S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Research Computing, Information Technology, Boston Children's Hospital, Boston, MA, USA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA., Krantz I; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Kaur M; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Raible S; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Dortenzio V; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Kliesch S; Department of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, University Hospital Münster, Münster, Germany., Singer-Berk M; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Groopman E; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., DiTroia S; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Ballal S; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, USA; Division of Gastroenterology, Boston Children's Hospital, Boston, MA, USA., Srivastava S; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, USA; Divison of Neurology, Boston Children's Hospital, Boston, MA, USA., Rothfelder K; Zentrum für Humangenetik, Tübingen, Germany., Biskup S; Zentrum für Humangenetik, Tübingen, Germany; Center for Genomics and Transcriptomics (CeGaT), Tübingen, Germany., Rzasa J; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Kerkhof J; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., McConkey H; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Sadikovic B; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Hilton S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Banka S; Manchester Centre for Genomic Medicine, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK; Division of Evolution, Infection, and Genomics, School of Biological Sciences, Faculty of Biology, Medicine, and Health, University of Manchester, Manchester, UK., Tüttelmann F; Institute of Reproductive Genetics, University of Münster, Münster, Germany., Conrad DF; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Portland, OR, USA; Center for Embryonic Cell and Gene Therapy, Oregon Health and Science University, Portland, OR, USA., O'Donnell-Luria A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Talkowski ME; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., FitzPatrick DR; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Boone PM; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, USA. Electronic address: philip.boone@childrens.harvard.edu.

المصدر: HGG advances [HGG Adv] 2024 Apr 11; Vol. 5 (2), pp. 100273. Date of Electronic Publication: 2024 Jan 30.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Inc Country of Publication: United States NLM ID: 101772885 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2666-2477 (Electronic) Linking ISSN: 26662477 NLM ISO Abbreviation: HGG Adv Subsets: MEDLINE

مواضيع طبية MeSH: De Lange Syndrome*/genetics , Intellectual Disability*/genetics, Humans ; Cell Cycle Proteins/genetics ; Chondroitin Sulfate Proteoglycans/genetics ; Chromosomal Proteins, Non-Histone/genetics ; Heterozygote ; Mutation ; Phenotype

المؤلفون: Aradhya S; Invitae Corporation, San Francisco, California, USA.; Adjunct Clinical Faculty, Department of Pathology, Stanford University School of Medicine, Stanford, California, USA., Facio FM; Invitae Corporation, San Francisco, California, USA., Metz H; Invitae Corporation, San Francisco, California, USA., Manders T; Invitae Corporation, San Francisco, California, USA., Colavin A; Invitae Corporation, San Francisco, California, USA., Kobayashi Y; Invitae Corporation, San Francisco, California, USA., Nykamp K; Invitae Corporation, San Francisco, California, USA., Johnson B; Invitae Corporation, San Francisco, California, USA., Nussbaum RL; Invitae Corporation, San Francisco, California, USA.; Volunteer Faculty, School of Medicine, University of California San Francisco, San Francisco, California, USA.

المصدر: American journal of medical genetics. Part C, Seminars in medical genetics [Am J Med Genet C Semin Med Genet] 2023 Sep; Vol. 193 (3), pp. e32057. Date of Electronic Publication: 2023 Jul 28.

نوع المنشور: Journal Article; Review

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235745 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4876 (Electronic) Linking ISSN: 15524868 NLM ISO Abbreviation: Am J Med Genet C Semin Med Genet Subsets: MEDLINE

مواضيع طبية MeSH: Artificial Intelligence* , Laboratories, Clinical*, Humans ; Genomics/methods ; Genetic Testing ; Phenotype

المؤلفون: Poplawska K; Department of Pediatrics, McGill University Health Center Research Institute, Montreal, Quebec, Canada., Griffiths A; Department of Pediatrics, Children's Minnesota, Minneapolis, MN., Temme R; Department of Genetics, Children's Minnesota, Minneapolis, MN., Adamko DJ; Department of Pediatrics, University of Saskatchewan, Saskatoon, Saskatchewan, Canada., Nykamp K; Invitae, San Francisco, CA., Shapiro AJ; Department of Pediatrics, McGill University Health Center Research Institute, Montreal, Quebec, Canada. Electronic address: adam.shapiro@muhc.mcgill.ca.

المصدر: The Journal of pediatrics [J Pediatr] 2023 Oct; Vol. 261, pp. 113362. Date of Electronic Publication: 2023 Feb 24.

نوع المنشور: Case Reports; Journal Article

بيانات الدورية: Publisher: Mosby Country of Publication: United States NLM ID: 0375410 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-6833 (Electronic) Linking ISSN: 00223476 NLM ISO Abbreviation: J Pediatr Subsets: MEDLINE

مواضيع طبية MeSH: Bronchiectasis* , Ciliary Motility Disorders*/genetics, Child ; Humans ; North America ; Racial Groups

المؤلفون: Ansari M; South East Scotland Genetic Service, Western General Hospital, Edinburgh, UK.; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; These authors contributed equally., Faour KNW; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; These authors contributed equally., Shimamura A; Division of Hematology and Oncology, Boston Children's Hospital, Boston, MA, US., Grimes G; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK., Kao EM; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US., Denhoff ER; Institutional Centers for Clinical and Translational Research, Boston Children's Hospital, Boston, MA, US., Blatnik A; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; Department of Clinical Cancer Genetics, Institute of Oncology Ljubljana, Ljubljana, SI., Ben-Isvy D; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; Division of Medical Sciences, Harvard Medical School, Boston, MA, US., Wang L; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; Division of Medical Sciences, Harvard Medical School, Boston, MA, US., Helm BM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US., Firth H; Clinical Genetics, Addenbrooke's Hospital, Cambridge University Hospitals, Cambridge, UK., Breman AM; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US., Bijlsma EK; Department of Clinical Genetics, Leiden University Medical Centre, Leiden, NL., Iwata-Otsubo A; Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN, US., de Ravel TJL; Centre for Human Genetics, UZ Leuven/ Leuven University Hospitals, Leuven, BE., Fusaro V; Invitae, San Francisco, CA, US., Fryer A; Department of Clinical Genetics, Alder Hey Children's Hospital Liverpool, Liverpool, UK., Nykamp K; Invitae, San Francisco, CA, US., Stühn LG; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, DE., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, DE., Korenke GC; University Children's Hospital Oldenburg, Department of Neuropaediatric and Metabolic Diseases, University Children's Hospital Oldenburg, Oldenburg, DE., Constantinou P; West of Scotland Centre for Genomic Medicine, Queen Elizabeth University Hospital, Glasgow, UK., Bujakowska KM; Massachusetts Eye and Ear Infirmary, Boston, MA, US., Low KJ; University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK.; University of Bristol, Bristol, UK., Place E; Massachusetts Eye and Ear Infirmary, Boston, MA, US., Humberson J; University of Virginia Health System, Charlottesville, VA, US., Napier MP; GeneDx, Gaithersburg, MD, US., Hoffman J; GeneDx, Gaithersburg, MD, US., Juusola J; GeneDx, Gaithersburg, MD, US., Deardorff MA; Departments of Pathology and Pediatrics, Children's Hospital Los Angeles and University of Southern California, Los Angeles, CA, US., Shao W; Research Computing, Information Technology, Boston Children's Hospital, Boston, MA, US., Rockowitz S; Research Computing, Information Technology, Boston Children's Hospital, Boston, MA, US.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, US.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US., Krantz I; Children's Hospital of Philadelphia, Philadelphia, PA, US., Kaur M; Children's Hospital of Philadelphia, Philadelphia, PA, US., Raible S; Children's Hospital of Philadelphia, Philadelphia, PA, US., Kliesch S; Department of Clinical and Surgical Andrology, Centre of Reproductive Medicine and Andrology, University Hospital Münster, Münster, DE., Singer-Berk M; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US., Groopman E; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US., DiTroia S; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US., Ballal S; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; Division of Gastroenterology, Boston Children's Hospital, Boston, MA, US., Srivastava S; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; Divison of Neurology, Boston Children's Hospital, Boston, MA, US., Rothfelder K; Zentrum für Humangenetik, Tübingen, DE., Biskup S; Zentrum für Humangenetik, Tübingen, DE.; Center for Genomics and Transcriptomics (CeGaT), Tübingen, DE., Rzasa J; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA., Kerkhof J; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA., McConkey H; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA., O'Donnell-Luria A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US., Sadikovic B; Molecular Diagnostics Program and Verspeeten Clinical Genome Centre, LHSC, London, CA., Hilton S; Manchester University, Manchester, UK., Banka S; Manchester University, Manchester, UK., Tüttelmann F; Institute of Reproductive Genetics, University of Münster, Münster, DE., Conrad D; Division of Genetics, Oregon National Primate Research Center, Oregon Health and Science University, Portland, OR, US.; Center for Embryonic Cell and Gene Therapy, Oregon Health and Science University, Portland, OR, US., Talkowski ME; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US., FitzPatrick DR; MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.; These authors contributed equally., Boone PM; Cornelia de Lange Syndrome and Related Disorders Clinic, Boston Children's Hospital, Boston, MA, US.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, US.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, US.; Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, MA, US.; These authors contributed equally.

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Sep 28. Date of Electronic Publication: 2023 Sep 28.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

المؤلفون: Wilde BR; Department of Biological Chemistry, University of California Los Angeles, Los Angeles, California.; Jonsson Comprehensive Cancer Center, University of California Los Angeles, Los Angeles, California., Chakraborty N; Department of Biological Chemistry, University of California Los Angeles, Los Angeles, California., Matulionis N; Department of Biological Chemistry, University of California Los Angeles, Los Angeles, California., Hernandez S; Department of Biological Chemistry, University of California Los Angeles, Los Angeles, California., Ueno D; Institute of Urologic Oncology, University of California Los Angeles, Los Angeles, California., Gee ME; Department of Biological Chemistry, University of California Los Angeles, Los Angeles, California., Esplin ED; Invitae, San Francisco, California., Ouyang K; Invitae, San Francisco, California., Nykamp K; Invitae, San Francisco, California., Shuch B; Jonsson Comprehensive Cancer Center, University of California Los Angeles, Los Angeles, California.; Institute of Urologic Oncology, University of California Los Angeles, Los Angeles, California., Christofk HR; Department of Biological Chemistry, University of California Los Angeles, Los Angeles, California.; Invitae, San Francisco, California.; Broad Stem Cell Research Center, University of California Los Angeles, Los Angeles, California.

المصدر: Cancer discovery [Cancer Discov] 2023 Sep 06; Vol. 13 (9), pp. 2072-2089.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Association for Cancer Research Country of Publication: United States NLM ID: 101561693 Publication Model: Print Cited Medium: Internet ISSN: 2159-8290 (Electronic) Linking ISSN: 21598274 NLM ISO Abbreviation: Cancer Discov Subsets: MEDLINE

مواضيع طبية MeSH: Carcinoma, Renal Cell*/pathology , Kidney Neoplasms*/genetics , Skin Neoplasms*/genetics, Humans ; Fumarate Hydratase/genetics ; Fumarate Hydratase/metabolism ; Virulence ; Purines

SCR Disease Name: Hereditary leiomyomatosis and renal cell cancer

المؤلفون: Stenton SL; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., O'Leary M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Lemire G; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., VanNoy GE; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., DiTroia S; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Ganesh VS; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA., Groopman E; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., O'Heir E; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Mangilog B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Osei-Owusu I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Pais LS; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Serrano J; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Singer-Berk M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Weisburd B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Wilson M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Austin-Tse C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Abdelhakim M; Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia., Althagafi A; Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.; Computer, Electrical and Mathematical Sciences & Engineering Division (CEMSE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.; Computer Science Department, College of Computers and Information Technology, Taif University, Taif, Saudi Arabia., Babbi G; Biocomputing Group, Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy., Bellazzi R; enGenome Srl, Pavia, Italy.; Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Pavia, Italy., Bovo S; Department of Agricultural and Food Sciences, University of Bologna, Bologna, Italy., Carta MG; Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Pavia, Italy., Casadio R; Biocomputing Group, Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy., Coenen PJ; Invitae, San Francisco, California, USA., De Paoli F; enGenome Srl, Pavia, Italy., Floris M; Department of Biomedical Sciences, University of Sassari, Sassari, Italy., Gajapathy M; Center for Computational Genomics and Data Science, The University of Alabama at Birmingham, Birmingham, AL, USA.; Department of Genetics, Heersink School of Medicine, The University of Alabama at Birmingham, Birmingham, AL, USA.; Hugh Kaul Precision Medicine Institute, The University of Alabama at Birmingham, Birmingham, AL, USA., Hoehndorf R; Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia.; Computer, Electrical and Mathematical Sciences & Engineering Division (CEMSE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, Saudi Arabia., Jacobsen JOB; William Harvey Research Institute, Barts & The London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK., Joseph T; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Kamandula A; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Katsonis P; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA., Kint C; Invitae, San Francisco, California, USA., Lichtarge O; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Structural and Computational Biology & Molecular Biophysics Program, Baylor College of Medicine, Houston, TX, USA.; Computational and Integrative Biomedical Research Center, Baylor College of Medicine, Houston, TX, USA., Limongelli I; enGenome Srl, Pavia, Italy., Lu Y; Center for molecular medicine, Pediatric Research Institute, Children's Hospital of Fudan University, Shanghai, China., Magni P; enGenome Srl, Pavia, Italy.; Department of Electrical, Computer and Biomedical Engineering, University of Pavia, Pavia, Italy., Mamidi TKK; Center for Computational Genomics and Data Science, The University of Alabama at Birmingham, Birmingham, AL, USA.; Department of Genetics, Heersink School of Medicine, The University of Alabama at Birmingham, Birmingham, AL, USA.; Hugh Kaul Precision Medicine Institute, The University of Alabama at Birmingham, Birmingham, AL, USA., Martelli PL; Biocomputing Group, Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy., Mulargia M; Department of Biomedical Sciences, University of Sassari, Sassari, Italy., Nicora G; enGenome Srl, Pavia, Italy., Nykamp K; Invitae, San Francisco, California, USA., Pejaver V; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Peng Y; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Pham THC; Anatomy and Surgical Training Department, University of Medicine and Pharmacy, Hue University, Vietnam., Podda MS; Department of Biomedical Sciences, University of Sassari, Sassari, Italy., Rao A; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Rizzo E; enGenome Srl, Pavia, Italy., Saipradeep VG; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Savojardo C; Biocomputing Group, Department of Pharmacy and Biotechnology, University of Bologna, Bologna, Italy., Schols P; Invitae, San Francisco, California, USA., Shen Y; Department of Electrical and Computer Engineering, Texas A&M University, College Station, TX, USA.; Department of Computer Science and Engineering, Texas A&M University, College Station, TX, USA.; Institute of Biosciences and Technology and Department of Translational Medical Sciences, College of Medicine, Texas A&M University, Houston, Texas, USA., Sivadasan N; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Smedley D; William Harvey Research Institute, Barts & The London School of Medicine and Dentistry, Queen Mary University of London, Charterhouse Square, London, UK., Soru D; Independent consultant., Srinivasan R; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Sun Y; Department of Electrical and Computer Engineering, Texas A&M University, College Station, TX, USA., Sunderam U; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Tan W; Department of Electrical and Computer Engineering, Texas A&M University, College Station, TX, USA., Tiwari N; TCS Research, Tata Consultancy Services (TCS) Ltd, Deccan Park, Madhapur, Hyderabad, India., Wang X; Center for molecular medicine, Pediatric Research Institute, Children's Hospital of Fudan University, Shanghai, China., Wang Y; Center for molecular medicine, Pediatric Research Institute, Children's Hospital of Fudan University, Shanghai, China., Williams A; Department of Molecular & Human Genetics, Baylor College of Medicine, Houston, TX, USA., Worthey EA; Center for Computational Genomics and Data Science, The University of Alabama at Birmingham, Birmingham, AL, USA.; Department of Genetics, Heersink School of Medicine, The University of Alabama at Birmingham, Birmingham, AL, USA.; Hugh Kaul Precision Medicine Institute, The University of Alabama at Birmingham, Birmingham, AL, USA., Yin R; Department of Electrical and Computer Engineering, Texas A&M University, College Station, TX, USA., You Y; Department of Electrical and Computer Engineering, Texas A&M University, College Station, TX, USA., Zeiberg D; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Zucca S; enGenome Srl, Pavia, Italy., Bakolitsa C; Department of Plant and Microbial Biology and Center for Computational Biology, University of California, Berkeley, CA, USA., Brenner SE; Department of Plant and Microbial Biology and Center for Computational Biology, University of California, Berkeley, CA, USA., Fullerton SM; Department of Bioethics & Humanities, University of Washington School of Medicine, Seattle, WA, USA., Radivojac P; Khoury College of Computer Sciences, Northeastern University, Boston, MA, USA., Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., O'Donnell-Luria A; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.

المصدر: MedRxiv : the preprint server for health sciences [medRxiv] 2023 Aug 04. Date of Electronic Publication: 2023 Aug 04.

نوع المنشور: Preprint

بيانات الدورية: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

المؤلفون: Zavoshi S; Department of Internal Medicine, Ascension St. John Hospital, Detroit, MI; Institute of Urologic Oncology, University of California, Los Angeles, Los Angeles, CA., Lu E; Division of Hematology/Oncology, University of California, Los Angeles, Los Angeles, CA., Boutros PC; Institute of Urologic Oncology, University of California, Los Angeles, Los Angeles, CA; Jonsson Comprehensive Cancer Center, University of California, Los Angeles, CA; Departments of Human Genetics and Urology, University of California, Los Angeles, CA., Zhang L; Jonsson Comprehensive Cancer Center, University of California, Los Angeles, CA; Department of Pathology and Laboratory Medicine, University of California, Los Angeles, Los Angeles, CA., Harari A; Division of Endocrine Surgery, Department of Surgery, University of California, Los Angeles, Los Angeles, CA., Hatchell KE; Invitae, San Francisco, CA., Nielsen SM; Invitae, San Francisco, CA., Esplin ED; Invitae, San Francisco, CA., Ouyang K; Invitae, San Francisco, CA., Nykamp K; Invitae, San Francisco, CA., Wilde B; Department of Biologic Chemistry, University of California, Los Angeles, Los Angeles, CA., Christofk H; Jonsson Comprehensive Cancer Center, University of California, Los Angeles, CA; Department of Biologic Chemistry, University of California, Los Angeles, Los Angeles, CA., Shuch B; Institute of Urologic Oncology, University of California, Los Angeles, Los Angeles, CA; Jonsson Comprehensive Cancer Center, University of California, Los Angeles, CA. Electronic address: bshuch@mednet.ucla.edu.

المصدر: Urology [Urology] 2023 Jun; Vol. 176, pp. 106-114. Date of Electronic Publication: 2023 Feb 10.

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Elsevier Science Country of Publication: United States NLM ID: 0366151 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1527-9995 (Electronic) Linking ISSN: 00904295 NLM ISO Abbreviation: Urology Subsets: MEDLINE

مواضيع طبية MeSH: Adrenal Gland Neoplasms*/genetics , Paraganglioma*/genetics , Pheochromocytoma*/genetics , Skin Neoplasms*/genetics , Uterine Neoplasms*, Female ; Humans ; Fumarate Hydratase/genetics

SCR Disease Name: Fumaric aciduria; Hereditary leiomyomatosis and renal cell cancer

المؤلفون: Kamps-Hughes N; Invitae Corporation, San Francisco, California., Carlton VEH; Invitae Corporation, San Francisco, California., Fresard L; Invitae Corporation, San Francisco, California., Osazuwa S; Invitae Corporation, San Francisco, California., Starks E; Invitae Corporation, San Francisco, California., Vincent JJ; Invitae Corporation, San Francisco, California., Albritton S; Invitae Corporation, San Francisco, California., Nussbaum RL; Invitae Corporation, San Francisco, California., Nykamp K; Invitae Corporation, San Francisco, California. Electronic address: keith.nykamp@invitae.com.

المصدر: The Journal of molecular diagnostics : JMD [J Mol Diagn] 2023 Mar; Vol. 25 (3), pp. 156-167. Date of Electronic Publication: 2022 Dec 21.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 100893612 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1943-7811 (Electronic) Linking ISSN: 15251578 NLM ISO Abbreviation: J Mol Diagn Subsets: MEDLINE

مواضيع طبية MeSH: Genetic Testing*/methods , Neoplastic Syndromes, Hereditary*/genetics, Humans ; RNA Splicing ; RNA, Messenger/genetics ; RNA

المؤلفون: Aradhya, S., Roczo, N., Burnett, L., Morales, A., Johnson, B., Vatta, M., Facio, F., Fresard, L., McKnight, D., Kobayashi, Y., Reuter, J., Nykamp, K., Colavin, A.

المصدر: In Heart, Lung and Circulation July 2023 32 Supplement 3:S315-S315