Zobrazeno 1 - 10
of 27
pro vyhledávání: '"Di Gioia SA"'
Autor:
Bryn D. Webb, Speck-Martins Ce, Peter S. Chines, Pietro Artoni, Wai-Man Chan, Mary Beth Scholand, Nori Matsunami, Irini Manoli, John C. Carey, Jessica Cannavino, Michela Fagiolini, Mark Leppert, Carlos Ferreira, Connors S, Hartman T, de Macena Sobreira Nl, Eric N. Olson, Frank H. Collins, Di Gioia Sa, Matthew F. Rose, Elizabeth C. Engle, Payam Mohassel, Carsten G. Bönnemann, Andres Ramirez-Martinez, Long Cheng, Van Ryzin C, Ethylin Wang Jabs, Amy J. Swift, Nicole M. Gilette, Stephen P. Robertson, Caroline D. Robson, Timothy R. Morgan, Ian Hayes, Christopher Grunseich, David Markie
Publikováno v:
Nature Communications, Vol 8, Iss 1, Pp 1-16 (2017)
Nature Communications
Nature Communications
Multinucleate cellular syncytial formation is a hallmark of skeletal muscle differentiation. Myomaker, encoded by Mymk (Tmem8c), is a well-conserved plasma membrane protein required for myoblast fusion to form multinucleated myotubes in mouse, chick,
Publikováno v:
Open Medicine, Vol 15, Iss 1, Pp 1096-1122 (2020)
Exosomes-like nanoparticles can be released by a variety of plants and vegetables. The relevance of plant-derived nanovesicles (PDNVs) in interspecies communication is derived from their content in biomolecules (lipids, proteins, and miRNAs), absence
Externí odkaz:
https://doaj.org/article/de48bd102b8d4a41921416e30f41448b
Autor:
Martínez Maria C, Di Gioia Sante, Battaglino Anna, Ratclif Luigi, Castellani Stefano, Trotta Teresa, Lepore Silvia, Porro Chiara, Conese Massimo, Maffione Angela B
Publikováno v:
Respiratory Research, Vol 11, Iss 1, p 94 (2010)
Abstract Background Microparticles (MPs) are membrane vesicles released during cell activation and apoptosis. MPs have different biological effects depending on the cell from they originate. Cystic fibrosis (CF) lung disease is characterized by massi
Externí odkaz:
https://doaj.org/article/51e00f68f40f4bcda998b8cbb1d7d310
Autor:
Jurgens JA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Matos Ruiz PM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., King J; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Foster EE; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Berube L; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Chan WM; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA., Barry BJ; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA., Jeong R; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; Bioinformatics and Integrative Genomics Graduate Program, Harvard University, Cambridge, MA 02138, USA., Rothman E; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Whitman MC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA., MacKinnon S; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA., Rivera-Quiles C; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Pratt BM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Easterbrooks T; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Mensching FM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Di Gioia SA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Regeneron Pharmaceuticals, Tarrytown, NY, USA., Pais L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., England EM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., de Berardinis T; Department of Ophthalmologic Sciences, Faculty of Medicine and Surgery, University 'Federico II', Naples, Italy., Magli A; Department of Ophthalmologic Sciences, Faculty of Medicine and Surgery, University 'Federico II', Naples, Italy., Koc F; Department of Ophthalmology, Faculty of Medicine, Izmir Katip Celebi University, Izmir, Turkey., Asakawa K; Neurobiology and Pathology Laboratory, National Institute of Genetics, Mishima, Shizuoka, Japan., Kawakami K; Laboratory of Molecular and Developmental Biology, National Institute of Genetics; Department of Genetics, Graduate University for Advanced Studies (SOKENDAI)., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Hunter DG; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA., Robson CD; Division of Neuroradiology, Department of Radiology, Boston Children's Hospital, Boston, MA, USA.; Department of Radiology, Harvard Medical School, Boston, MA, USA., Bulyk ML; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; Bioinformatics and Integrative Genomics Graduate Program, Harvard University, Cambridge, MA 02138, USA.; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA., Engle EC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Department of Neurology, Harvard Medical School, Boston, MA, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.
Publikováno v:
BioRxiv : the preprint server for biology [bioRxiv] 2024 Sep 15. Date of Electronic Publication: 2024 Sep 15.
Autor:
Kosmicki JA; Regeneron Genetics Center, Tarrytown, NY, USA., Marcketta A; Regeneron Genetics Center, Tarrytown, NY, USA., Sharma D; Regeneron Genetics Center, Tarrytown, NY, USA., Di Gioia SA; Regeneron Genetics Center, Tarrytown, NY, USA., Batista S; Regeneron Genetics Center, Tarrytown, NY, USA., Yang XM; Regeneron Genetics Center, Tarrytown, NY, USA., Tzoneva G; Regeneron Genetics Center, Tarrytown, NY, USA., Martinez H; Regeneron Genetics Center, Tarrytown, NY, USA., Sidore C; Regeneron Genetics Center, Tarrytown, NY, USA., Kessler MD; Regeneron Genetics Center, Tarrytown, NY, USA., Horowitz JE; Regeneron Genetics Center, Tarrytown, NY, USA., Roberts GHL; AncestryDNA, Lehi, UT, USA., Justice AE; Geisinger, Danville, PA, USA., Banerjee N; Regeneron Genetics Center, Tarrytown, NY, USA., Coignet MV; AncestryDNA, Lehi, UT, USA., Leader JB; Geisinger, Danville, PA, USA., Park DS; AncestryDNA, Lehi, UT, USA., Lanche R; Regeneron Genetics Center, Tarrytown, NY, USA., Maxwell E; Regeneron Genetics Center, Tarrytown, NY, USA., Knight SC; AncestryDNA, Lehi, UT, USA., Bai X; Regeneron Genetics Center, Tarrytown, NY, USA., Guturu H; AncestryDNA, Lehi, UT, USA., Baltzell A; AncestryDNA, Lehi, UT, USA., Girshick AR; AncestryDNA, Lehi, UT, USA., McCurdy SR; AncestryDNA, Lehi, UT, USA., Partha R; AncestryDNA, Lehi, UT, USA., Mansfield AJ; Regeneron Genetics Center, Tarrytown, NY, USA., Turissini DA; AncestryDNA, Lehi, UT, USA., Zhang M; AncestryDNA, Lehi, UT, USA., Mbatchou J; Regeneron Genetics Center, Tarrytown, NY, USA., Watanabe K; Regeneron Genetics Center, Tarrytown, NY, USA., Verma A; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Sirugo G; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Ritchie MD; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Salerno WJ; Regeneron Genetics Center, Tarrytown, NY, USA., Shuldiner AR; Regeneron Genetics Center, Tarrytown, NY, USA., Rader DJ; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Mirshahi T; Geisinger, Danville, PA, USA., Marchini J; Regeneron Genetics Center, Tarrytown, NY, USA., Overton JD; Regeneron Genetics Center, Tarrytown, NY, USA., Carey DJ; Geisinger, Danville, PA, USA., Habegger L; Regeneron Genetics Center, Tarrytown, NY, USA., Reid JG; Regeneron Genetics Center, Tarrytown, NY, USA., Economides A; Regeneron Genetics Center, Tarrytown, NY, USA., Kyratsous C; Regeneron Genetics Center, Tarrytown, NY, USA., Karalis K; Regeneron Genetics Center, Tarrytown, NY, USA., Baum A; Regeneron Genetics Center, Tarrytown, NY, USA., Cantor MN; Regeneron Genetics Center, Tarrytown, NY, USA., Rand KA; AncestryDNA, Lehi, UT, USA., Hong EL; AncestryDNA, Lehi, UT, USA., Ball CA; AncestryDNA, Lehi, UT, USA., Siminovitch K; Regeneron Genetics Center, Tarrytown, NY, USA., Baras A; Regeneron Genetics Center, Tarrytown, NY, USA., Abecasis GR; Regeneron Genetics Center, Tarrytown, NY, USA. goncalo.abecasis@regeneron.com., Ferreira MAR; Regeneron Genetics Center, Tarrytown, NY, USA. manuel.ferreira@regeneron.com.
Publikováno v:
Nature genetics [Nat Genet] 2024 Aug; Vol. 56 (8), pp. 1592-1596. Date of Electronic Publication: 2024 Aug 05.
Autor:
Jurgens JA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Barry BJ; Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Howard Hughes Medical Institute, Chevy Chase, MD, USA., Chan WM; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Howard Hughes Medical Institute, Chevy Chase, MD, USA., MacKinnon S; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA., Whitman MC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA., Matos Ruiz PM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Pratt BM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., England EM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Pais L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Lemire G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Groopman E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Glaze C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Russell KA; 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., Di Gioia SA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Regeneron Pharmaceuticals, Tarrytown, NY, 10591, USA., Lee AS; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Andrews C; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Shaaban S; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Department of Pathology, University of Utah School of Medicine, Salt Lake City, UT, USA., Wirth MM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Bekele S; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Toffoloni M; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Bradford VR; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Foster EE; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Berube L; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Rivera-Quiles C; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Mensching FM; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Sanchis-Juan A; 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., Fu JM; 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., Wong I; 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., Zhao X; 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., Wilson MW; 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., Lek M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Brand H; 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; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA., Talkowski ME; Department of Neurology, 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., MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA., Robson CD; Division of Neuroradiology, Department of Radiology, Boston Children's Hospital, Boston, MA, USA; Department of Radiology, Harvard Medical School, Boston, MA, USA., Hunter DG; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA., Engle EC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Boston Children's Hospital, Boston, MA, USA; Department of Neurology, Harvard Medical School, Boston, MA, USA; Broad Institute of MIT and Harvard, Cambridge, MA, USA; Howard Hughes Medical Institute, Chevy Chase, MD, USA; Department of Ophthalmology, Boston Children's Hospital, Boston, MA, USA; Department of Ophthalmology, Harvard Medical School, Boston, MA, USA. Electronic address: elizabeth.engle@childrens.harvard.edu.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jul 17, pp. 101216. Date of Electronic Publication: 2024 Jul 17.
Autor:
Tenney AP; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA., Di Gioia SA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Regeneron Pharmaceuticals, Tarrytown, NY, USA., Webb BD; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Chan WM; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA., de Boer E; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Garnai SJ; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Harvard-MIT Health Sciences and Technology, Harvard Medical School, Boston, MA, USA., Barry BJ; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA., Ray T; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Kosicki M; Environmental Genomics & System Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Robson CD; Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Zhang Z; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Collins TE; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Gelber A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Pratt BM; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Fujiwara Y; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA, USA., Varshney A; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA., Lek M; Department of Genetics, Yale University School of Medicine, New Haven, CT, USA., Warburton PE; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Center for Advanced Genomics Technology, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Van Ryzin C; Metabolic Medicine Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Lehky TJ; EMG Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD, USA., Zalewski C; Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD, USA., King KA; Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD, USA., Brewer CC; Audiology Unit, Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, NIH, Bethesda, MD, USA., Thurm A; Neurodevelopmental and Behavioral Phenotyping Service, National Institute of Mental Health, NIH, Bethesda, MD, USA., Snow J; Office of the Clinical Director, National Institute of Mental Health, NIH, Bethesda, MD, USA., Facio FM; Center for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; Invitae Corporation, San Francisco, CA, USA., Narisu N; Center for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Bonnycastle LL; Center for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Swift A; Center for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Chines PS; Center for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Bell JL; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Mohan S; Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA., Whitman MC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Staffieri SE; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, and University of Melbourne, Melbourne, Victoria, Australia.; Department of Ophthalmology, Royal Children's Hospital, Parkville, Victoria, Australia., Elder JE; Department of Ophthalmology, Royal Children's Hospital, Parkville, Victoria, Australia., Demer JL; Stein Eye Institute and Departments of Ophthalmology, Neurology, and Bioengineering, University of California, Los Angeles, Los Angeles, CA, USA., Torres A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Department of Pediatrics, Boston Medical Center, Boston University Aram V. Chobanian & Edward Avedisian School of Medicine, Boston, MA, USA., Rachid E; Department of Ophthalmology, American University of Beirut Medical Center, Beirut, Lebanon., Al-Haddad C; Department of Ophthalmology, American University of Beirut Medical Center, Beirut, Lebanon., Boustany RM; Pediatrics & Adolescent Medicine/Biochemistry & Molecular Genetics, American University of Beirut Medical Center, Beirut, Lebanon., Mackey DA; Lions Eye Institute, University of Western Australia, Perth, Australia., Brady AF; North West Thames Regional Genetics Service, Northwick Park Hospital, Harrow, UK., Fenollar-Cortés M; Unidad de Genética Clínica, Instituto de Medicina del Laboratorio. IdISSC, Hospital Clínico San Carlos, Madrid, Spain., Fradin M; Service de Génétique Clinique, CHU Rennes, Centre Labellisé Anomalies du Développement, Rennes, France., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Center of Excellence for Neuropsychiatry, Vincent van Gogh Institute for Psychiatry, Venray, the Netherlands., Padberg GW; Department of Neurology, Radboud University Medical Center, Nijmegen, the Netherlands., Raskin S; Centro de Aconselhamento e Laboratório Genetika, Curitiba, Paraná, Brazil., Sato MT; Department of Ophthalmology & Otorhinolaryngology, Federal University of Paraná, Curitiba, Paraná, Brazil., Orkin SH; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Dana-Farber/Boston Children's Cancer and Blood Disorders Center, Boston, MA, USA., Parker SCJ; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA., Hadlock TA; Department of Otolaryngology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA, USA., Vissers LELM; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., van Bokhoven H; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Jabs EW; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Cell, Developmental, and Regenerative Biology, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY, USA., Collins FS; Center for Precision Health Research, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Pennacchio LA; Environmental Genomics & System Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Manoli I; Metabolic Medicine Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Engle EC; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. elizabeth.engle@childrens.harvard.edu.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA. elizabeth.engle@childrens.harvard.edu.; Howard Hughes Medical Institute, Chevy Chase, MD, USA. elizabeth.engle@childrens.harvard.edu.; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. elizabeth.engle@childrens.harvard.edu.
Publikováno v:
Nature genetics [Nat Genet] 2023 Jul; Vol. 55 (7), pp. 1149-1163. Date of Electronic Publication: 2023 Jun 29.
Autor:
Praveen K; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Patel GC; Regeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA., Gurski L; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Ayer AH; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Persaud T; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Still MD; Regeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA., Miloscio L; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Van Zyl T; Regeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA., Di Gioia SA; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Brumpton B; K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology, 7030, Trondheim, Norway.; HUNT Research Center, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology, 7600, Levanger, Norway.; Clinic of Medicine, St. Olavs Hospital Trondheim University Hospital, 7030, Trondheim, Norway., Krebs K; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia., Åsvold BO; K.G. Jebsen Center for Genetic Epidemiology, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology, 7030, Trondheim, Norway.; HUNT Research Center, Department of Public Health and Nursing, NTNU, Norwegian University of Science and Technology, 7600, Levanger, Norway.; Department of Endocrinology, Clinic of Medicine, St. Olavs Hospital, Trondheim University Hospital, 7030, Trondheim, Norway., Chen E; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Chavali VRM; Department of Ophthalmology, Pearlman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Fury W; Regeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA., Gudiseva HV; Department of Ophthalmology, Pearlman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Hyde S; Alnylam Pharmaceuticals, Inc, Cambridge, MA, 02142, USA., Jorgenson E; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Lefebvre S; Alnylam Pharmaceuticals, Inc, Cambridge, MA, 02142, USA., Li D; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Li A; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Mclninch J; Alnylam Pharmaceuticals, Inc, Cambridge, MA, 02142, USA., Patel B; Regeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA., Rabinowitz JS; Regeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA., Salowe R; Department of Ophthalmology, Pearlman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Schurmann C; Bayer AG, Pharmaceuticals, Research and Development, 13342, Berlin, Germany., Seidelin AS; Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Stahl E; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Sun D; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Teslovich TM; Regeneron Genetics Center, Tarrytown, NY, 10591, USA., Tybjærg-Hansen A; Department of Clinical Biochemistry, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark., Willer C; Division of Cardiovascular Medicine, Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.; Department of Computational Medicine and Bioinformatics, University of Michigan, Ann Arbor, MI, USA.; Department of Human Genetics, University of Michigan, Ann Arbor, MI, USA., Waldron S; Alnylam Pharmaceuticals, Inc, Cambridge, MA, 02142, USA., Walley S; Regeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA., Yang H; Regeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA., Zaveri S; Regeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA., Hu Y; Regeneron Pharmaceuticals, Inc., Tarrytown, NY, 10591, USA., Hveem K; K.G. 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Publikováno v:
Communications biology [Commun Biol] 2022 Oct 03; Vol. 5 (1), pp. 1051. Date of Electronic Publication: 2022 Oct 03.
Autor:
Natera-de Benito D; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, Institute of Child Health, London, UK.; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain., Jurgens JA; Program in Medical and Population Genetics and Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, USA., Yeung A; Victorian Clinical Genetics Services, Murdoch Childrens Research Institute, Parkville, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia., Zaharieva IT; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, Institute of Child Health, London, UK., Manzur A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, Institute of Child Health, London, UK., DiTroia SP; Program in Medical and Population Genetics and Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Di Gioia SA; Program in Medical and Population Genetics and Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, USA., Pais L; Program in Medical and Population Genetics and Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Pini V; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, Institute of Child Health, London, UK., Barry BJ; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Howard Hughes Medical Institute, Chevy Chase, Maryland, USA., Chan WM; Program in Medical and Population Genetics and Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, USA.; Howard Hughes Medical Institute, Chevy Chase, Maryland, USA., Elder JE; Department of Paediatrics, University of Melbourne, Parkville, Victoria, Australia.; Department of Ophthalmology, Royal Childrens's Hospital, Parkville, Victoria, Australia., Christodoulou J; Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Hay E; Department of Clinical Genetics, North East Thames Regional Genetic Service, Great Ormond Street Hospital, London, UK., England EM; Program in Medical and Population Genetics and Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Munot P; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, Institute of Child Health, London, UK., Hunter DG; Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Feng L; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, Institute of Child Health, London, UK., Ledoux D; Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., O'Donnell-Luria A; Program in Medical and Population Genetics and Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Division of Genetics and Genomics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Phadke R; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, Institute of Child Health, London, UK., Engle EC; Program in Medical and Population Genetics and Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA.; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.; Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, USA.; Howard Hughes Medical Institute, Chevy Chase, Maryland, USA.; Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA., Sarkozy A; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, Institute of Child Health, London, UK., Muntoni F; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, Institute of Child Health, London, UK.; Centre for Neuromuscular Diseases, UCL Institute of Neurology, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
Publikováno v:
Human mutation [Hum Mutat] 2022 Apr; Vol. 43 (4), pp. 487-498. Date of Electronic Publication: 2022 Feb 03.
Autor:
Whitman MC; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, United States.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, United States., Di Gioia SA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, United States., Chan WM; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, United States., Gelber A; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, United States., Pratt BM; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, United States., Bell JL; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, United States., Collins TE; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, United States., Knowles JA; Department of Cell Biology, SUNY Downstate Health Sciences University, Brooklyn, New York, United States., Armoskus C; Department of Cell Biology, SUNY Downstate Health Sciences University, Brooklyn, New York, United States., Pato M; Institute for Genomic Health, SUNY Downstate Medical Center, Brooklyn, New York, United States., Pato C; Institute for Genomic Health, SUNY Downstate Medical Center, Brooklyn, New York, United States., Shaaban S; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, United States.; Present address: Department of Pathology and ARUP Laboratories, University of Utah School of Medicine, Salt Lake City, Utah, United States., Staffieri S; Centre for Eye Research Australia, Royal Victorian Eye and Ear Hospital, East Melbourne, Victoria, Australia., MacKinnon S; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, United States., Maconachie GDE; Department of Neuroscience, Psychology and Behavior, The University of Leicester Ulverscroft Eye Unit, University of Leicester, Leicester, United Kingdom., Elder JE; Department of Ophthalmology, Royal Children's Hospital, University of Melbourne, Parkville, Victoria, Australia.; Department of Pediatrics, The University of Melbourne, Parkville, Victoria, Australia., Traboulsi EI; Department of Pediatric Ophthalmology and Strabismus, Cole Eye Institute, Cleveland Clinic, Cleveland, Ohio, United States., Gottlob I; Department of Neuroscience, Psychology and Behavior, The University of Leicester Ulverscroft Eye Unit, University of Leicester, Leicester, United Kingdom., Mackey DA; Centre for Ophthalmology and Visual Science, Lions Eye Institute, University of Western Australia, Perth, Australia.; Menzies Institute for Medical Research, University of Tasmania, Hobart, Australia.; Centre for Eye Research Australia, University of Melbourne, Melbourne, Australia., Hunter DG; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, United States., Engle EC; Department of Ophthalmology, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, United States.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, United States.; Department of Neurology, Harvard Medical School, Boston, Massachusetts, United States.; Howard Hughes Medical Institute, Chevy Chase, Maryland, United States.
Publikováno v:
Investigative ophthalmology & visual science [Invest Ophthalmol Vis Sci] 2020 Aug 03; Vol. 61 (10), pp. 22.