Zobrazeno 1 - 10
of 531
pro vyhledávání: '"Barry BJ"'
Autor:
Lee AS; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. arthur.lee@childrens.harvard.edu.; Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA. arthur.lee@childrens.harvard.edu.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. arthur.lee@childrens.harvard.edu.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. arthur.lee@childrens.harvard.edu., Ayers LJ; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Kosicki M; Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Chan WM; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA., Fozo LN; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Pratt BM; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Collins TE; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Zhao B; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Rose MF; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Pathology, Boston Children's Hospital, Boston, MA, USA.; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA.; Medical Genetics Training Program, Harvard Medical School, 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.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, 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.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA., Tenney AP; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Lee C; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Harvard College, Cambridge, MA, USA., Laricchia KM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Barry BJ; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA., Bradford VR; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA., Jurgens JA; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., England EM; 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., MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, NSW, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Lee EA; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA., Talkowski ME; 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.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, 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.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA, USA., Pennacchio LA; Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA, USA., Engle EC; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. elizabeth.engle@childrens.harvard.edu.; Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, USA. elizabeth.engle@childrens.harvard.edu.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA. elizabeth.engle@childrens.harvard.edu.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. elizabeth.engle@childrens.harvard.edu.; Howard Hughes Medical Institute, Chevy Chase, MD, USA. elizabeth.engle@childrens.harvard.edu.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA. elizabeth.engle@childrens.harvard.edu.; Medical Genetics Training Program, Harvard Medical School, Boston, MA, USA. elizabeth.engle@childrens.harvard.edu.; Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA. elizabeth.engle@childrens.harvard.edu.
Publikováno v:
Nature communications [Nat Commun] 2024 Sep 27; Vol. 15 (1), pp. 8268. Date of Electronic Publication: 2024 Sep 27.
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:
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:
Lecoquierre F; Univ Rouen Normandie, Inserm U1245 and CHU Rouen, Department of Genetics and reference center for developmental disorders, Rouen, France; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France. Electronic address: francois.lecoquierre@chu-rouen.fr., Punt AM; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands., Ebstein F; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Greifswald, Germany; Nantes Université, INSERM, CNRS, l'institut du thorax, Nantes Cedex 1, France., Wallaard I; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands., Verhagen R; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands., Studencka-Turski M; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Greifswald, Germany., Duffourd Y; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France., Moutton S; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France., Tran Mau-Them F; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Philippe C; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Laboratoire de Génétique, CHR Metz-Thionville, Hôpital Mercy, Metz, France., Dean J; Department of Medical Genetics, NHS Grampian, Aberdeen, United Kingdom., Tennant S; NHS Grampian, Genetics & Molecular Pathology Laboratory Services, Aberdeen, United Kingdom., Brooks AS; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., van Slegtenhorst MA; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands., Jurgens JA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA; Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA., Barry BJ; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA; Department of Neurology, Boston Children's Hospital, Boston, MA; Howard Hughes Medical Institute, Chevy Chase, MD., Chan WM; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA; Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA; Howard Hughes Medical Institute, Chevy Chase, MD., England EM; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA., Martinez Ojeda M; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA., Engle EC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA; Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA; Howard Hughes Medical Institute, Chevy Chase, MD; Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, MA., Robson CD; Division of Neuroradiology, Department of Radiology, Boston Children's Hospital, Boston, MA; Department of Radiology, Harvard Medical School, Boston, MA., Morrow M; GeneDx, Gaithersburg, MD., Innes AM; Alberta Children's Hospital Research Institute for Child and Maternal Health and Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Lamont R; Alberta Children's Hospital Research Institute for Child and Maternal Health and Department of Medical Genetics, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada., Sanderson M; Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada., Krüger E; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Greifswald, Germany., Thauvin C; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Centre de référence maladies rares « Déficiences Intellectuelles de Causes Rares », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Distel B; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands., Faivre L; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Centre de Référence maladies rares « Anomalies du Développement et Syndromes Malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Elgersma Y; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus MC, Rotterdam, The Netherlands., Vitobello A; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jun; Vol. 26 (6), pp. 101119. Date of Electronic Publication: 2024 Mar 07.
Autor:
Lee AS; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA.; Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Ayers LJ; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA., Kosicki M; Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA., Chan WM; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA.; Howard Hughes Medical Institute, Chevy Chase, MD., Fozo LN; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA., Pratt BM; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA., Collins TE; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA., Zhao B; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA., Rose MF; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA.; Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Department of Pathology, Boston Children's Hospital, Boston, MA.; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA.; Medical Genetics Training Program, Harvard Medical School, Boston, MA., Sanchis-Juan A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA., Fu JM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA., Wong I; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA., Zhao X; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA., Tenney AP; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA.; Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Lee C; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA.; Harvard College, Cambridge, MA., Laricchia KM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., Barry BJ; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA.; Howard Hughes Medical Institute, Chevy Chase, MD., Bradford VR; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA., Lek M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA., MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, NSW, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia., Lee EA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; Department of Genetics, Harvard Medical School, Boston, MA., Talkowski ME; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA., Brand H; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA.; Pediatric Surgical Research Laboratories, Massachusetts General Hospital, Boston, MA., Pennacchio LA; Environmental Genomics and Systems Biology Division, Lawrence Berkeley National Laboratory, Berkeley, CA., Engle EC; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA.; Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.; Howard Hughes Medical Institute, Chevy Chase, MD.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; Medical Genetics Training Program, Harvard Medical School, Boston, MA.; Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, MA.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2023 Dec 27. Date of Electronic Publication: 2023 Dec 27.
Autor:
van Wyk, Barry (BJ)
Publikováno v:
Stellenbosch Theological Journal, Volume: 6, Issue: 3, Pages: 141-170, Published: 2020
Church concept and church order: a comparative study between the four Afrikaans reformed churches in South AfricaThis article is about the church concept and church order as formulated by churches of Reformed offspring, especially since the Reformati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52392e38069c5f66702fd6616f13445b
https://doi.org/10.17570/stj.2020.v6n3.a4
https://doi.org/10.17570/stj.2020.v6n3.a4
Autor:
Puri D; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.; F. M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, United States.; Howard Hughes Medical Institute, Chevy Chase, MD, United States., Barry BJ; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.; F. M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, United States.; Howard Hughes Medical Institute, Chevy Chase, MD, United States., Engle EC; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.; F. M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, United States.; Howard Hughes Medical Institute, Chevy Chase, MD, United States.; Department of Ophthalmology, Boston Children's Hospital, Harvard Medical School, Boston, MA, United States.
Publikováno v:
Frontiers in neuroscience [Front Neurosci] 2023 Aug 04; Vol. 17, pp. 1226181. Date of Electronic Publication: 2023 Aug 04 (Print Publication: 2023).
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:
Tolmay, Barry (BJ)
Publikováno v:
Stellenbosch Theological Journal, Volume: 6, Issue: 3, Pages: 353-387, Published: 2020
In 1994, South Africa experienced a radical paradigm shift which in some ways led Afrikaans reformed churches into a state of semi-paralysis. Over the past twenty-six years the church has had to deal with the resultant fallout. The fact that many set
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http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S2413-94672020000300015&lng=en&tlng=en
Publikováno v:
Journal of gerontological nursing [J Gerontol Nurs] 2022 Nov; Vol. 48 (11), pp. 15-20. Date of Electronic Publication: 2022 Nov 01.