Zobrazeno 1 - 10
of 37
pro vyhledávání: '"Hiatt SM"'
Autor:
Le Duc, D, Giulivi, C, Hiatt, SM, Napoli, E, Panoutsopoulos, A, De Crescenzo, AH, Kotzaeridou, U, Syrbe, S, Anagnostou, E, Azage, M, Bend, R, Begtrup, A, Brown, NJ, Büttner, B, Cho, MT, Cooper, GM, Doering, JH, Dubourg, C, Everman, DB, Hildebrand, MS, Santos, FJR, Kellam, B, Keller-Ramey, J, Lemke, JR, Liu, S, Niyazov, D, Payne, K, Person, R, Quélin, C, Schnur, RE, Smith, BT, Strober, J, Walker, S, Wallis, M, Walsh, L, Yang, S, Yuen, RKC, Ziegler, A, Sticht, H, Pride, MC, Orosco, L, Martínez-Cerdenõ, V, Silverman, JL, Crawley, JN, Scherer, SW, Zarbalis, KS, Jamra, R
Publikováno v:
Brain : a journal of neurology, vol 142, iss 11
In the original version of this article, authors Jill L. Silverman and Stephen W. Scherer were listed with incorrect affiliations; this has now been corrected.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______325::4ab7ec64621ae7730a5951ce31aa7417
https://escholarship.org/uc/item/3hj2q3k2
https://escholarship.org/uc/item/3hj2q3k2
Autor:
Hiatt SM; HudsonAlpha Institute for Biotechnology; shiatt@hudsonalpha.org., Lawlor JM; HudsonAlpha Institute for Biotechnology., Handley LH; HudsonAlpha Institute for Biotechnology., Latner DR; HudsonAlpha Institute for Biotechnology., Bonnstetter ZT; HudsonAlpha Institute for Biotechnology., Finnila CR; HudsonAlpha Institute for Biotechnology., Thompson ML; HudsonAlpha Institute for Biotechnology., Boston LB; HudsonAlpha Institute for Biotechnology., Williams M; HudsonAlpha Institute of Biotechnology., Rodriguez-Nunez I; HudsonAlpha Institute for Biotechnology., Jenkins J; HudsonAlpha Institute of Biotechnology., Kelley WV; HudsonAlpha Institute for Biotechnology., Bebin EM; University of Alabama at Birmingham., Lopez MA; University of Alabama at Birmingham., Hurst AC; University of Alabama at Birmingham., Korf BR; University of Alabama at Birmingham., Schmutz J; HudsonAlpha Institute for Biotechnology., Grimwood J; HudsonAlpha Institute for Biotechnology., Cooper GM; HudsonAlpha Institute for Biotechology.
Publikováno v:
Genome research [Genome Res] 2024 Sep 19. Date of Electronic Publication: 2024 Sep 19.
Autor:
Borroto MC; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada., Michaud C; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada., Hudon C; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada., Agrawal PB; The Manton Center for Orphan Disease Research, Divisions of Newborn Medicine and of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Agre K; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA., Applegate CD; Department of Genetic Medicine, McKusick-Nathans Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA., Beggs AH; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Bjornsson HT; Department of Genetic Medicine, McKusick-Nathans Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA.; Louma G. Laboratory of Epigenetic Research, Faculty of Medicine, University of Iceland, 101 Reykjavik, Iceland.; Department of Genetics and Molecular Medicine, Landspitali University Hospital, 101 Reykjavik, Iceland., Callewaert B; Center for Medical Genetics, Ghent University Hospital, 9000 Ghent, Belgium., Chen MJ; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Curry C; Genetic Medicine, University of California San Francisco/Fresno, Fresno, CA 93701, USA., Devinsky O; Departments of Neurology, Neuroscience, Neurosurgery and Psychiatry, NYU School of Medicine, New York, NY 10016, USA., Dudding-Byth T; Hunter Genetics, Newcastle, NSW 2298, Australia., Fagan K; UCSF Benioff Children's Hospital, San Francisco, CA 93940, USA., Finnila CR; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA., Gavrilova R; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.; Department of Neurology, Mayo Clinic, Rochester, MN 55902, USA., Genetti CA; The Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Hiatt SM; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL 35806, USA., Hildebrandt F; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Wojcik MH; The Manton Center for Orphan Disease Research, Divisions of Newborn Medicine and of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Kleefstra T; Department of Human Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Kolvenbach CM; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Institute of Anatomy and Cell Biology, Medical Faculty, University of Bonn, 53127 Bonn, Germany., Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Kruszka P; GeneDx LLC, Gaithersburg, MD 20877, USA., Li H; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA 30322, USA., Litwin J; Department of Neurology, University of California, San Francisco Benioff Children's Hospital, San Francisco, CA 94158, USA., Marcadier J; Division of Medical Genetics, Alberta Children's Hospital, Calgary, AB T3B 6A8, Canada., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, 04103 Leipzig, Germany., Blackburn PR; Department of Pathology, St. Jude Children's Hospital, Memphis, TN 38105, USA., Reijnders MRF; Department of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands., Reutter H; Institute of Human Genetics, University Hospital of Bonn, 53127 Bonn, Germany., Schanze I; Institute of Human Genetics, 39120 Magdeburg, Germany., Shieh JT; Division of Medical Genetics, Department of Pediatrics, University of California, San Francisco Benioff Childen's Hospital, San Francisco, CA 94143, USA., Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 38103, USA., Valivullah Z; Center for Mendelian Genomics, Broad Institute Harvard, Cambridge, MA 02142, USA., van den Boogaard MJ; Department of Genetics, University Medical Centre Utrecht, P.O. Box 85500, 3508 GA Utrecht, The Netherlands., Klee EW; Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55902, USA.; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN 55902, USA., Campeau PM; Centre de Recherche Azrieli du CHU Sainte-Justine, University of Montreal, Montreal, QC H3T 1C5, Canada.
Publikováno v:
Genes [Genes (Basel)] 2024 Aug 06; Vol. 15 (8). Date of Electronic Publication: 2024 Aug 06.
Autor:
Pavinato L; Department of Medical Sciences, University of Turin, Turin, Italy; Institute of Oncology Research (IOR), Bellinzona, Switzerland; Università della Svizzera Italiana, Lugano, Switzerland., Stanic J; Department of Pharmacological and Biomolecular Sciences, DiSFeB, University of the Studies of Milan, Milan, Italy., Barzasi M; Department of Pharmacological and Biomolecular Sciences, DiSFeB, University of the Studies of Milan, Milan, Italy., Gurgone A; Department of Neuroscience, University of Turin, Turin, Italy., Chiantia G; Department of Neuroscience, University of Turin, Turin, Italy., Cipriani V; William Harvey Research Institute, Clinical Pharmacology Precision Medicine, Queen Mary University of London, Charterhouse Square, United Kingdom., Eberini I; Department of Pharmacological and Biomolecular Sciences, DiSFeB, University of the Studies of Milan, Milan, Italy., Palazzolo L; Department of Pharmacological and Biomolecular Sciences, DiSFeB, University of the Studies of Milan, Milan, Italy., Di Luca M; Department of Pharmacological and Biomolecular Sciences, DiSFeB, University of the Studies of Milan, Milan, Italy., Costa A; Department of Biosciences, University of the Studies of Milan, Milan, Italy; Institute of Biophysics, Consiglio Nazionale delle Ricerche (CNR), Milan, Italy., Marcantoni A; Department of Drug Science and Technology, University of Turin, Turin, Italy., Biamino E; Department of Pediatrics, Regina Margherita Children Hospital, Turin, Italy., Spada M; Department of Pediatrics, Regina Margherita Children Hospital, Turin, Italy., Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Kelley WV; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Vestito L; William Harvey Research Institute, Clinical Pharmacology Precision Medicine, Queen Mary University of London, Charterhouse Square, United Kingdom., Sisodiya SM; Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, United Kingdom; Chalfont Centre for Epilepsy Bucks, Chalfont St Peter, United Kingdom., Efthymiou S; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom., Chand P; Department of Paediatric and Child Health, Aga Khan University Hospital, Karachi, Pakistan., Kaiyrzhanov R; University College London, UCL Queen Square Institute of Neurology, London, United Kingdom., Bruselles A; Department of Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome, Italy., Cardaropoli S; Department of Public Health and Pediatric Sciences, University of Torino, Torino, Italy., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy., De Rubeis S; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY., Buxbaum JD; Seaver Autism Center for Research and Treatment, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Psychiatry, Icahn School of Medicine at Mount Sinai, New York, NY; The Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY; Friedman Brain Institute, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Neuroscience, Icahn School of Medicine at Mount Sinai, New York, NY., Smedley D; William Harvey Research Institute, Clinical Pharmacology Precision Medicine, Queen Mary University of London, Charterhouse Square, United Kingdom., Ferrero GB; Department of Clinical and Biological Sciences, University of Turin, Orbassano, TO, Italy., Giustetto M; Department of Neuroscience, University of Turin, Turin, Italy., Gardoni F; Department of Pharmacological and Biomolecular Sciences, DiSFeB, University of the Studies of Milan, Milan, Italy., Brusco A; Department of Medical Sciences, University of Turin, Turin, Italy; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy. Electronic address: alfredo.brusco@unito.it.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Nov; Vol. 25 (11), pp. 100922. Date of Electronic Publication: 2023 Jul 01.
Autor:
Felker SA; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Lawlor JMJ; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Latner DR; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Finnila CR; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Bowling KM; Washington University School of Medicine, St. Louis, MO., Bonnstetter ZT; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Bonini KE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY., Kelly NR; Division of Pediatric Genetic Medicine, Department of Pediatrics, Children's Hospital at Montefiore/Montefiore Medical Center/Albert Einstein College of Medicine, Bronx, NY., Kelley WV; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Hurst ACE; University of Alabama in Birmingham, Birmingham, AL., Rashid S; University of Alabama in Birmingham, Birmingham, AL., Kelly MA; HudsonAlpha Clinical Services Lab, Huntsville, AL., Nakouzi G; HudsonAlpha Clinical Services Lab, Huntsville, AL., Hendon LG; University of Mississippi Medical Center, Jackson, MS., Bebin EM; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL., Kenny EE; Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY; Department of Medicine, Icahn School of Medicine at Mount Sinai, New York, NY., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL. Electronic address: gcooper@hudsonalpha.org.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Aug; Vol. 25 (8), pp. 100884. Date of Electronic Publication: 2023 May 06.
Autor:
Lemke AA; Department of Pediatrics, Norton Children's Research Institute, University of Louisville School of Medicine, Louisville, KY 40202, USA., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Gimpel EC; Department of Pediatrics, Norton Children's Research Institute, University of Louisville School of Medicine, Louisville, KY 40202, USA., McNamara KC; Department of Pediatrics, Norton Children's Research Institute, University of Louisville School of Medicine, Louisville, KY 40202, USA., Rich CA; Department of Pediatrics, Norton Children's Research Institute, University of Louisville School of Medicine, Louisville, KY 40202, USA., Finnila CR; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Cochran ME; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Lawlor JMJ; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., East KM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Bowling KM; Department of Pathology and Immunology, Washington University School of Medicine, St. Louis, MO 63110, USA., Latner DR; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Amaral MD; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Kelley WV; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Greve V; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Gray DE; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Felker SA; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; Department of Biological Sciences, University of Alabama in Huntsville, Huntsville, AL 35899, USA., Meddaugh H; Department of Genetics, Ochsner Health System, New Orleans, LA 70121, USA., Cannon A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Luedecke A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Jackson KE; Division of Genetics, Norton Children's Genetics Center, University of Louisville School of Medicine, Louisville, KY 40202, USA., Hendon LG; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA., Janani HM; Neonatal Intensive Care Unit, Woman's Hospital, Baton Rouge, LA 70817, USA., Johnston M; Department of Pediatrics, Children's Hospital New Orleans, New Orleans, LA 70118, USA., Merin LA; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Deans SL; Department of Pediatrics, Norton Children's Research Institute, University of Louisville School of Medicine, Louisville, KY 40202, USA., Tuura C; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA., Hughes T; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA., Williams H; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA., Laborde K; Neonatal Intensive Care Unit, Woman's Hospital, Baton Rouge, LA 70817, USA., Neu MB; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA.; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Patrick-Esteve J; Department of Pediatrics, Children's Hospital New Orleans, New Orleans, LA 70118, USA., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Kirmse BM; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS 39216, USA., Savich R; Pediatrics Neonatology Division, University of New Mexico Health Sciences Center, Albuquerque, NM 87106, USA., Spedale SB; Neonatal Intensive Care Unit, Woman's Hospital, Baton Rouge, LA 70817, USA., Knight SJ; Department of Internal Medicine, University of Utah, Salt Lake City, UT 84112, USA., Barsh GS; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Brothers KB; Department of Pediatrics, Norton Children's Research Institute, University of Louisville School of Medicine, Louisville, KY 40202, USA.
Publikováno v:
Journal of personalized medicine [J Pers Med] 2023 Jun 21; Vol. 13 (7). Date of Electronic Publication: 2023 Jun 21.
Autor:
Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA. Electronic address: shiatt@hudsonalpha.org., Trajkova S; Department of Medical Sciences, University of Torino, 10126 Torino, Italy., Sebastiano MR; Molecular Biotechnology and Health Sciences Department, Università degli Studi di Torino, via Quarello 15, 10135 Torino, Italy., Partridge EC; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Abidi FE; Greenwood Genetic Center, Greenwood, SC 29646, USA., Anderson A; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Ansar M; Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile des Aveugles, Lausanne, Switzerland; Advanced Molecular Genetics and Genomics Disease Research and Treatment Centre, Dow University of Health Sciences, Karachi, Pakistan., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland., Azadi A; Obestetrics and Gynecology Department, Golestan University of Medical Sciences, Gorgan, Iran., Bachmann-Gagescu R; Institute of Medical Genetics, University of Zurich, Schlieren 8952, Switzerland., Bartuli A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Benech C; Univ Brest, Inserm, EFS, UMR 1078, GGB, 29200 Brest, France., Berkowitz JL; GeneDx, LLC, Gaithersburg, MD 20877, USA., Betti MJ; Vanderbilt University Medical Center, Nashville, TN 37232, USA., Brusco A; Department of Medical Sciences, University of Torino, 10126 Torino, Italy., Cannon A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Caron G; Molecular Biotechnology and Health Sciences Department, Università degli Studi di Torino, via Quarello 15, 10135 Torino, Italy., Chen Y; GeneDx, LLC, Gaithersburg, MD 20877, USA., Cochran ME; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Coleman TF; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Crenshaw MM; Pediatrics and Medical Genetics, University of Colorado, Aurora CO, USA., Cuisset L; Service de Médecine Génomique des Maladies de Système et d'Organe, Département Médico-Universitaire BioPhyGen, Hôpital Cochin, APHP, Université Paris Cité, Paris, France., Curry CJ; Genetic Medicine, UCSF/Fresno, Fresno, CA 93701, USA., Darvish H; Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran; Nikagene Genetic Diagnostic Laboratory, Gorgan, Golestan, Iran., Demirdas S; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Descartes M; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Douglas J; Boston Children's Hospital, Boston, MA, USA., Dyment DA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Elloumi HZ; GeneDx, LLC, Gaithersburg, MD 20877, USA., Ermondi G; Molecular Biotechnology and Health Sciences Department, Università degli Studi di Torino, via Quarello 15, 10135 Torino, Italy., Faoucher M; Service de Génétique Moléculaire et Génomique, CHU, Rennes 35033, France; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes 35000, France., Farrow EG; Children's Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, KS, USA., Felker SA; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Fisher H; Children's Medical Center, Dallas, TX, USA., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Joset P; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland., Kelly MA; HudsonAlpha Clinical Services Lab, LLC, Huntsville, AL 35806, USA., Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic., Leadem BR; GeneDx, LLC, Gaithersburg, MD 20877, USA., Lyons MJ; Greenwood Genetic Center, Greenwood, SC 29646, USA., Macchiaiolo M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Magner M; Department of Pediatrics and Inherited Metabolic Disorders, General University Hospital and First faculty of Medicine, Charles University, Prague, Czech Republic., Mandrile G; Medical Genetics Unit and Thalassemia Center, San Luigi University Hospital, University of Torino, Orbassano, Italy., Mattioli F; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., McEown M; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Meadows SK; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Medne L; Childrens Hospital of Philadelphia, Philadelphia, PA, USA., Meeks NJL; Section of Genetics & Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Montgomery S; Division of Genetics and Metabolism, Children's Health, Dallas, TX, USA., Napier MP; GeneDx, LLC, Gaithersburg, MD 20877, USA., Natowicz M; Pathology & Laboratory Medicine, Genomic Medicine, Neurological and Pediatrics Institutes, Cleveland Clinic, Cleveland, OH, USA., Newberry KM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Niceta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Noskova L; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic., Nowak CB; Boston Children's Hospital, Boston, MA, USA., Noyes AG; GeneDx, LLC, Gaithersburg, MD 20877, USA., Osmond M; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Prijoles EJ; Greenwood Genetic Center, Greenwood, SC 29646, USA., Pugh J; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Pullano V; Department of Medical Sciences, University of Torino, 10126 Torino, Italy., Quélin C; Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, CHU Hôpital Sud, Rennes, France., Rahimi-Aliabadi S; Department of Pharmacology and Toxicology, College of Pharmacy, University of Utah, Salt Lake City, UT 84112, USA., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren 8952, Switzerland; University Children's Hospital Zurich, University of Zurich, Zurich 8032, Switzerland., Redon S; Univ Brest, Inserm, EFS, UMR 1078, GGB, 29200 Brest, France; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France; Centre de Référence Déficiences Intellectuelles de causes rares, Brest, France., Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Schwager CR; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO, USA., Sellars EA; Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, AR 72202, USA., Scheuerle AE; Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, TX, USA., Shukarova-Angelovska E; Department of Endocrinology and Genetics, University Clinic for Children's Diseases, Medical Faculty, University Sv. Kiril i Metodij, Skopje, Republic of Macedonia., Skraban C; Childrens Hospital of Philadelphia, Philadelphia, PA, USA., Stolerman E; Greenwood Genetic Center, Greenwood, SC 29646, USA., Sullivan BR; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO, USA., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Thiffault I; Children's Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, KS, USA., Uguen K; Univ Brest, Inserm, EFS, UMR 1078, GGB, 29200 Brest, France; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France; Centre de Référence Déficiences Intellectuelles de causes rares, Brest, France., Umaña LA; Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, TX, USA., van Bever Y; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., van der Crabben SN; Amsterdam University Medical Centers, Department of Clinical Genetics, Amsterdam, the Netherlands., van Slegtenhorst MA; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Waisfisz Q; Department of Human Genetics, Amsterdam University Medical Centers, VU University Amsterdam, Amsterdam, The Netherlands; Amsterdam Neuroscience, Amsterdam, The Netherlands., Washington C; Greenwood Genetic Center, Greenwood, SC 29646, USA., Rodan LH; Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA 02115, USA., Myers RM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA. Electronic address: gcooper@hudsonalpha.org.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2023 Feb 02; Vol. 110 (2), pp. 215-227. Date of Electronic Publication: 2022 Dec 30.
Autor:
Bowling KM; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Finnila CR; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Latner DR; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Amaral MD; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Lawlor JMJ; HudsonAlpha Institute for Biotechnology, Huntsville, AL., East KM; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Cochran ME; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Greve V; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Kelley WV; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Gray DE; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Felker SA; HudsonAlpha Institute for Biotechnology, Huntsville, AL; University of Alabama in Huntsville, Huntsville, AL., Meddaugh H; Department of Clinical Genetics and Metabolism, Children's Hospital New Orleans, New Orleans, LA., Cannon A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Luedecke A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Jackson KE; Department of Pediatrics, University of Louisville, Louisville, KY., Hendon LG; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS., Janani HM; Department of Pediatrics, Children's Hospital New Orleans, New Orleans, LA., Johnston M; Department of Pediatrics, Children's Hospital New Orleans, New Orleans, LA., Merin LA; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL., Deans SL; Department of Pediatrics, University of Louisville, Louisville, KY., Tuura C; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS., Williams H; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS., Laborde K; Neonatal Intensive Care Unit, Woman's Hospital, Baton Rouge, LA., Neu MB; HudsonAlpha Institute for Biotechnology, Huntsville, AL; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Patrick-Esteve J; Department of Pediatrics, Children's Hospital New Orleans, New Orleans, LA., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Kandasamy J; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL., Carlo W; Department of Pediatrics, University of Alabama at Birmingham, Birmingham, AL., Brothers KB; Department of Pediatrics, University of Louisville, Louisville, KY., Kirmse BM; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS., Savich R; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS., Superneau D; Department of Genetics, Woman's Hospital, Baton Rouge, LA., Spedale SB; Department of Pediatrics, Woman's Hospital, Baton Rouge, LA., Knight SJ; Department of Internal Medicine, University of Utah Health, Salt Lake City, UT., Barsh GS; HudsonAlpha Institute for Biotechnology, Huntsville, AL., Korf BR; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL. Electronic address: gcooper@hudsonalpha.org.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Apr; Vol. 24 (4), pp. 851-861. Date of Electronic Publication: 2021 Nov 27.
Autor:
Childerhose JE; Division of General Internal Medicine, The Ohio State University, Columbus, Ohio, USA.; Division of Pediatric Clinical and Translational Research, University of Louisville, Louisville, Kentucky, USA., Rich C; Division of Pediatric Clinical and Translational Research, University of Louisville, Louisville, Kentucky, USA., East KM; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Kelley WV; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Simmons S; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Finnila CR; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Bowling K; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Amaral M; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Thompson M; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Gray DE; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Lawlor JMJ; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Myers RM; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Barsh GS; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Lose EJ; The University of Alabama at Birmingham School of Medicine, Birmingham, Alabama, USA., Bebin ME; The University of Alabama at Birmingham School of Medicine, Birmingham, Alabama, USA., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, Alabama, USA., Brothers KB; Division of Pediatric Clinical and Translational Research, University of Louisville, Louisville, Kentucky, USA.
Publikováno v:
AJOB empirical bioethics [AJOB Empir Bioeth] 2021 Jul-Sep; Vol. 12 (3), pp. 179-189. Date of Electronic Publication: 2021 Apr 12.
Autor:
Voisin N; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland., Schnur RE; GeneDx, Gaithersburg, MD 20877, USA; Cooper Medical School of Rowan University, Division of Genetics, Camden, NJ 08103, USA., Douzgou S; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9NT, UK., Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Rustad CF; Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway., Brown NJ; Victorian Clinical Genetics Services, Flemington Road, Parkville, VIC 3052, Australia; Murdoch Children's Research Institute, Flemington Road, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, VIC 3052, Australia., Earl DL; Seattle Children's, Seattle, WA 98105, USA., Keren B; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France., Levchenko O; Research Centre for Medical Genetics, Moscow 115522, Russia., Geuer S; Max Planck Institute for Molecular Genetics, Berlin 14195, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin 10117, Germany., Verheyen S; Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine, Medical University of Graz, 8010 Graz, Austria., Johnson D; Sheffield Clinical Genetics Service, Sheffield S10 2TQ, UK., Zarate YA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 72701, USA., Hančárová M; Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic., Amor DJ; Murdoch Children's Research Institute, Flemington Road, Parkville, VIC 3052, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Flemington Road, Parkville, VIC 3052, Australia., Bebin EM; Department of Neurology, University of Alabama at Birmingham, Birmingham, AL 35294, USA., Blatterer J; Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine, Medical University of Graz, 8010 Graz, Austria., Brusco A; Department of Medical Sciences, University of Torino, Torino 10126, Italy; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Torino 10126, Italy., Cappuccio G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80131, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples 80078, Italy., Charrow J; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA., Chatron N; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Genetics Department, Lyon University Hospital, Lyon 69007, France., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Courtin T; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France., Dadali E; Research Centre for Medical Genetics, Moscow 115522, Russia., Delafontaine J; Swiss Institute of Bioinformatics, Lausanne 1015, Switzerland., Del Giudice E; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80131, Italy., Doco M; Secteur Génétique, CHU Reims, EA3801, SFR CAPSANTE, 51092 Reims, France., Douglas G; GeneDx, Gaithersburg, MD 20877, USA., Eisenkölbl A; Department of Pediatrics and Adolescent Medicine, Johannes Kepler University, Kepler University Hospital Linz, Krankenhausstraße 26-30, 4020 Linz, Austria., Funari T; GeneDx, Gaithersburg, MD 20877, USA., Giannuzzi G; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland., Gruber-Sedlmayr U; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, 8036 Graz, Austria., Guex N; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Bioinformatics Competence Center, University of Lausanne, Lausanne 1015, Switzerland., Heron D; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France., Holla ØL; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35233, USA., Juusola J; GeneDx, Gaithersburg, MD 20877, USA., Kronn D; New York Medical College, Valhalla, NY 10595, USA., Lavrov A; Research Centre for Medical Genetics, Moscow 115522, Russia., Lee C; Victorian Clinical Genetics Services, Flemington Road, Parkville, VIC 3052, Australia., Lorrain S; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Protein Analysis Facility, University of Lausanne, Lausanne 1015, Switzerland., Merckoll E; Department of Radiology, Oslo University Hospital, 0424 Oslo, Norway., Mikhaleva A; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland., Norman J; Integris Pediatric Neurology, Oklahoma City, OK 73112, USA., Pradervand S; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste 34100, Italy., Prchalová D; Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic., Rhodes L; GeneDx, Gaithersburg, MD 20877, USA., Sanders VR; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA., Sedláček Z; Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic., Seebacher HA; Institute of Human Genetics, Diagnostic and Research Center for Molecular Biomedicine, Medical University of Graz, 8010 Graz, Austria., Sellars EA; Section of Genetics and Metabolism, University of Arkansas for Medical Sciences, Little Rock, AR 72701, USA., Sirchia F; Institute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste 34100, Italy., Takenouchi T; Center for Medical Genetics, Department of Pediatrics, Keio University School of Medicine, Tokyo 1608582, Japan., Tanaka AJ; Department of Pediatrics, Columbia University, New York, NY 10032, USA; Department of Medicine, Columbia University, New York, NY 10032, USA., Taska-Tench H; Division of Genetics, Birth Defects & Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL 60611, USA., Tønne E; Department of Medical Genetics, Oslo University Hospital, 0424 Oslo, Norway., Tveten K; Department of Medical Genetics, Telemark Hospital Trust, 3710 Skien, Norway., Vitiello G; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80131, Italy., Vlčková M; Charles University Second Faculty of Medicine and University Hospital Motol, 150 06 Prague, Czech Republic., Uehara T; Center for Medical Genetics, Department of Pediatrics, Keio University School of Medicine, Tokyo 1608582, Japan., Nava C; Department of Genetics, Pitié-Salpêtrière Hospital, Assistance Publique - Hôpitaux de Paris, Groupe de Recherche Clinique Déficience Intellectuelle et Autisme UPMC, Paris 75013, France., Yalcin B; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Illkirch 67404, France., Kosaki K; Center for Medical Genetics, Department of Pediatrics, Keio University School of Medicine, Tokyo 1608582, Japan., Donnai D; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University Hospitals NHS Foundation Trust, Manchester Academic Health Sciences Centre, Manchester M13 9WL, UK; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester M13 9NT, UK., Mundlos S; Max Planck Institute for Molecular Genetics, Berlin 14195, Germany; Institute for Medical and Human Genetics, Charité Universitätsmedizin Berlin, Berlin 10117, Germany., Brunetti-Pierri N; Department of Translational Medicine, Section of Pediatrics, Federico II University, Naples 80131, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Naples 80078, Italy., Chung WK; Department of Pediatrics, Columbia University, New York, NY 10032, USA; Department of Medicine, Columbia University, New York, NY 10032, USA., Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne 1015, Switzerland. Electronic address: alexandre.reymond@unil.ch.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2021 May 06; Vol. 108 (5), pp. 857-873.