Zobrazeno 1 - 10
of 19
pro vyhledávání: '"Baugh EH"'
Autor:
Sharma RK, Drusin M; Department of Otolaryngology-Head and Neck Surgery, Columbia University Irving Medical Center., Hostyk J; Columba University Irving Medical Center, Institute of Genomic Medicine, New York, New York., Baugh EH; Columba University Irving Medical Center, Institute of Genomic Medicine, New York, New York., Aggarwal VS; Columba University Irving Medical Center, Institute of Genomic Medicine, New York, New York., Goldstein D; Columba University Irving Medical Center, Institute of Genomic Medicine, New York, New York., Kim AH; Department of Otolaryngology-Head and Neck Surgery, Columbia University Irving Medical Center.
Publikováno v:
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology [Otol Neurotol] 2023 Jan 01; Vol. 44 (1), pp. 16-20. Date of Electronic Publication: 2022 Nov 17.
Autor:
Alkelai A; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA. alkelai.ana@gmail.com., Greenbaum L; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; The Joseph Sagol Neuroscience Center, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Docherty AR; Department of Psychiatry, University of Utah School of Medicine, Salt Lake City, UT, USA., Shabalin AA; Department of Psychiatry, University of Utah School of Medicine, Salt Lake City, UT, USA., Povysil G; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA., Malakar A; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA., Hughes D; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA., Delaney SL; New York State Psychiatric Institute, Columbia University, New York City, NY, USA., Peabody EP; Psychology Research Laboratory, McLean Hospital, Harvard Medical School, Belmont, MA, USA., McNamara J; Psychology Research Laboratory, McLean Hospital, Harvard Medical School, Belmont, MA, USA., Gelfman S; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA., Baugh EH; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA., Zoghbi AW; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA.; New York State Psychiatric Institute, Columbia University, New York City, NY, USA.; New York State Psychiatric Institute, Office of Mental Health, New York, NY, USA.; Menninger Department of Psychiatry and Behavioral Sciences, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Harms MB; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA.; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.; Center for Motor Neuron Biology and Disease, Columbia University Irving Medical Center, New York, NY, USA., Hwang HS; Department of Medicine, National Taiwan University School of Medicine, Taipei, Taiwan., Grossman-Jonish A; The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel., Aggarwal V; Department of Pathology and Cell Biology, Columbia University, New York, NY, USA., Heinzen EL; Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Jobanputra V; Center for Motor Neuron Biology and Disease, Columbia University Irving Medical Center, New York, NY, USA.; New York Genome Center, New York, NY, USA., Pulver AE; Department of Psychiatry and Behavioral Sciences, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Lerer B; Biological Psychiatry Laboratory, Department of Psychiatry, Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Goldstein DB; Institute for Genomic Medicine, Columbia University Medical Center, New York, NY, USA.
Publikováno v:
Molecular psychiatry [Mol Psychiatry] 2022 Mar; Vol. 27 (3), pp. 1435-1447. Date of Electronic Publication: 2021 Nov 19.
Autor:
Küry S; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France. Electronic address: sebastien.kury@chu-nantes.fr., Ebstein F; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, 17475 Greifswald, Germany., Mollé A; Université de Nantes, CHU Nantes, Inserm, Centre de Recherche en Transplantation et Immunologie, UMR 1064, ITUN, 44000 Nantes, France., Besnard T; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France., Lee MK; Institut Curie, Paris Sciences et Lettres Research University, 75248 Paris, France; INSERM U934/CNRS UMR 3215, 75248 Paris, France., Vignard V; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France., Hery T; Institut Curie, Paris Sciences et Lettres Research University, 75248 Paris, France; INSERM U934/CNRS UMR 3215, 75248 Paris, France., Nizon M; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France., Mancini GMS; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, 3015 Rotterdam, the Netherlands., Giltay JC; Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, PO Box 85090, 3508 Utrecht, the Netherlands., Cogné B; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France., McWalter K; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Deb W; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France., Mor-Shaked H; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem 9112001, Israel., Li H; Department of Human Genetics and Pediatrics, School of Medicine, Emory University, Atlanta, GA 30322, USA., Schnur RE; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Wentzensen IM; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Denommé-Pichon AS; CHU Angers, Département de Biochimie et Génétique, 49933 Angers Cedex 9, France; UMR CNRS 6214-INSERM 1083, Université d'Angers, 49933 Angers Cedex 9, France., Fourgeux C; Université de Nantes, CHU Nantes, Inserm, Centre de Recherche en Transplantation et Immunologie, UMR 1064, ITUN, 44000 Nantes, France., Verheijen FW; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, 3015 Rotterdam, the Netherlands., Faurie E; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France., Schot R; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, 3015 Rotterdam, the Netherlands., Stevens CA; Department of Pediatrics, University of Tennessee College of Medicine, Chattanooga, TN 37403, USA., Smits DJ; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, 3015 Rotterdam, the Netherlands., Barr E; Department of Human Genetics and Pediatrics, School of Medicine, Emory University, Atlanta, GA 30322, USA., Sheffer R; Department of Genetics, Hadassah-Hebrew University Medical Center, Jerusalem 9112001, Israel., Bernstein JA; Department of Pediatrics, Stanford University School of Medicine, Stanford, CA 94304, USA., Stimach CL; Department of Human Genetics and Pediatrics, School of Medicine, Emory University, Atlanta, GA 30322, USA., Kovitch E; PANDA, 5887 Glenridge Drive, Suite 140, Atlanta, GA 30328, USA., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Schoch K; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC 27710, USA., Smith W; PANDA, 5887 Glenridge Drive, Suite 140, Atlanta, GA 30328, USA., van Jaarsveld RH; Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, PO Box 85090, 3508 Utrecht, the Netherlands., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35233, USA., Smith K; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL 35233, USA., Baugh EH; Genomic Medicine, Columbia University, New York, NY 10032, USA., Bohm SG; Division Laboratories, Pharmacy and Biomedical Genetics, University Medical Center Utrecht, PO Box 85090, 3508 Utrecht, the Netherlands., Vyhnálková E; Department of Biology and Medical Genetics, 2nd School of Medicine, Charles University in Prague and Faculty Hospital Motol, V Úvalu 84, 150 06 Prague 5, Czech Republic., Ryba L; Department of Biology and Medical Genetics, 2nd School of Medicine, Charles University in Prague and Faculty Hospital Motol, V Úvalu 84, 150 06 Prague 5, Czech Republic., Delnatte C; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France., Neira J; Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA., Bonneau D; CHU Angers, Département de Biochimie et Génétique, 49933 Angers Cedex 9, France; UMR CNRS 6214-INSERM 1083, Université d'Angers, 49933 Angers Cedex 9, France., Toutain A; Service de Génétique, Centre Hospitalier Régional Universitaire, 37044 Tours, France; UMR 1253, iBrain, Université de Tours, INSERM, 37032 Tours, France., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Baylor Genetics Laboratory, Houston, TX 77021, USA., Audebert-Bellanger S; CHRU Brest, Génétique Médicale, 29609 Brest, France., Gilbert-Dussardier B; CHU Poitiers, Service de Génétique, BP577, 86021 Poitiers, France; EA 3808, Université Poitiers, 86034 Poitiers, France., Odent S; Service de Génétique Clinique, Centre Référence 'Déficiences Intellectuelles de causes rares,' Centre de Référence Anomalies du Développement CLAD-Ouest, ERN ITHACA, CHU Rennes, 35203 Rennes, France; CNRS UMR 6290 IGDR 'Institut de Génétique et développement de Rennes,' Université de Rennes, 2 Avenue du Professeur Léon Bernard, 35043 Rennes, France., Laumonnier F; Service de Génétique, Centre Hospitalier Régional Universitaire, 37044 Tours, France; UMR 1253, iBrain, Université de Tours, INSERM, 37032 Tours, France., Berger SI; Center for Genetic Medicine Research/Rare Disease Institute, Children's National Medical Center, Washington, DC 20010, USA., Smith ACM; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, 10/10C103, MSC 1851, Bethesda, MD 20892, USA., Bourdeaut F; Institut Curie, SIREDO (Care, Innovation, Research in Pediatric, Adolescent and Young Adults Oncology), 75005 Paris, France., Stern MH; Institut Curie, PSL Research University, INSERM U830, DNA Repair and Uveal Melanoma, Equipe Labellisée Par la Ligue Nationale Contre le Cancer, 75248 Paris, France., Redon R; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France., Krüger E; Institut für Medizinische Biochemie und Molekularbiologie, Universitätsmedizin Greifswald, 17475 Greifswald, Germany., Margueron R; Institut Curie, Paris Sciences et Lettres Research University, 75248 Paris, France; INSERM U934/CNRS UMR 3215, 75248 Paris, France., Bézieau S; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France., Poschmann J; Université de Nantes, CHU Nantes, Inserm, Centre de Recherche en Transplantation et Immunologie, UMR 1064, ITUN, 44000 Nantes, France., Isidor B; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France; Université de Nantes, CHU Nantes, CNRS, INSERM, l'Institut du Thorax, 44007 Nantes, France. Electronic address: bertrand.isidor@chu-nantes.fr.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2022 Feb 03; Vol. 109 (2), pp. 361-372. Date of Electronic Publication: 2022 Jan 19.
Autor:
Cohen A; Department of Medicine, Columbia University Vagelos College of Physicians & Surgeons, New York, NY, USA. Electronic address: ac1044@columbia.edu., Hostyk J; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Baugh EH; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Buchovecky CM; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Aggarwal VS; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Recker RR; Department of Medicine, Creighton University Medical Center, Omaha, NE, USA., Lappe JM; Department of Medicine, Creighton University Medical Center, Omaha, NE, USA., Dempster DW; Department of Pathology and Cell Biology, Columbia University Vagelos College of Physicians & Surgeons, New York, NY, USA., Zhou H; Regional Bone Center, Helen Hayes Hospital, West Haverstraw, New York, NY, USA., Kamanda-Kosseh M; Department of Medicine, Columbia University Vagelos College of Physicians & Surgeons, New York, NY, USA., Bucovsky M; Department of Medicine, Columbia University Vagelos College of Physicians & Surgeons, New York, NY, USA., Stubby J; Department of Medicine, Creighton University Medical Center, Omaha, NE, USA., Goldstein DB; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Shane E; Department of Medicine, Columbia University Vagelos College of Physicians & Surgeons, New York, NY, USA.
Publikováno v:
Bone [Bone] 2022 Jan; Vol. 154, pp. 116253. Date of Electronic Publication: 2021 Nov 04.
Autor:
May HJ; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Fasheun JA; Weinberg Family Cerebral Palsy Center, Department of Orthopedics, Columbia University Irving Medical Center, New York, NY, USA., Bain JM; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA., Baugh EH; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Bier LE; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Revah-Politi A; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Roye DP Jr; Weinberg Family Cerebral Palsy Center, Department of Orthopedics, Columbia University Irving Medical Center, New York, NY, USA., Goldstein DB; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Carmel JB; Weinberg Family Cerebral Palsy Center, Department of Orthopedics, Columbia University Irving Medical Center, New York, NY, USA.; Department of Neurology, Columbia University Irving Medical Center, New York, NY, USA.
Publikováno v:
Developmental medicine and child neurology [Dev Med Child Neurol] 2021 Dec; Vol. 63 (12), pp. 1448-1455. Date of Electronic Publication: 2021 Jun 10.
Autor:
May HJ; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA. hh2742@cumc.columbia.edu., Jeong J; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Revah-Politi A; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Cohen JS; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Chassevent A; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA., Baptista J; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK.; Institute of Biomedical & Clinical Science, University of Exeter Medical School, Exeter, UK., Baugh EH; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Bier L; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Bottani A; Division of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland., Carminho A Rodrigues MT; Division of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland., Conlon C; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA., Fluss J; Pediatric Neurology Unit, Pediatrics Subspecialties Service, Geneva Children's Hospital, Geneva, Switzerland., Guipponi M; Division of Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland., Kim CA; Genetics Unit, Instituto da Crianca, Hospital das Clinicas, Faculdade de Medicina da Universidade de Sao Paulo, Sao Paulo, Brazil., Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Person R; Clinical Genomics Program, GeneDx, Gaithersburg, MD, USA., Primiano M; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA., Rankin J; Department of Clinical Genetics, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Shinawi M; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University in St. Louis, St. Louis, MO, USA., Smith-Hicks C; Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA.; Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA., Telegrafi A; Clinical Genomics Program, GeneDx, Gaithersburg, MD, USA., Toy S; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University in St. Louis, St. Louis, MO, USA., Uchiyama Y; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Rare Disease Genomics, Yokohama City University Graduate School of Medicine, Yokohama, Japan., Aggarwal V; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Goldstein DB; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Roche KW; National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Anyane-Yeboa K; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA. ka8@cumc.columbia.edu.; Division of Clinical Genetics, Department of Pediatrics, Columbia University Irving Medical Center, New York, NY, USA. ka8@cumc.columbia.edu.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Oct; Vol. 23 (10), pp. 1912-1921. Date of Electronic Publication: 2021 Jun 10.
Autor:
Ernst ME; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Department of Genetics and Development, Columbia University Irving Medical Center, New York, NY, USA., Baugh EH; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Thomas A; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Bier L; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Lippa N; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Stong N; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Mulhern MS; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Kushary S; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Akman CI; Department of Neurology, The Neurological Institute of New York, Columbia University Irving Medical Center, New York, NY, USA., Heinzen EL; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Eshelman School of Pharmacy, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Yeh R; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Hanchard NA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Leduc MS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Chong JSC; Joint CUHK-Baylor Center of Medical Genetics, Faculty of Medicine, The Chinese University of Hong Kong, Hong Kong SAR, China., Bend R; Greenwood Genetic Center, Greenwood, SC, USA., Lyons MJ; Greenwood Genetic Center, Greenwood, SC, USA., Lee JA; Greenwood Genetic Center, Greenwood, SC, USA., Suwannarat P; Mid-Atlantic Permanente Medical Group, Rockville, MD, USA., Brilstra E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Simon M; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Koopmans M; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., van Binsbergen E; Department of Genetics, University Medical Center Utrecht, Utrecht, The Netherlands., Groepper D; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL, USA., Fleischer J; Department of Pediatrics, Southern Illinois University School of Medicine, Springfield, IL, USA., Nava C; Department of Genetics, APHP Sorbonne University, Paris, France., Keren B; Department of Genetics, APHP Sorbonne University, Paris, France., Mignot C; Department of Genetics, APHP Sorbonne University, Paris, France.; Reference Center for Intellectual Disabilities of Rare Causes, Paris, France., Mathieu S; Department of Neuropediatrics, APHP Sorbonne University, Trousseau Hospital, Paris, France., Mancini GMS; Department of Clinical Genetics, ErasmusMC University Medical Center, Rotterdam, The Netherlands., Madan-Khetarpal S; Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Infante EM; Department of Medical Genetics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA, USA., Bluvstein J; School of Medicine, New York University, New York, NY, USA., Seeley A; Geisinger Medical Center, Danville, PA, USA., Bachman K; Geisinger Medical Center, Danville, PA, USA., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences, Mayo Clinic, Rochester, MN, USA., Schultz-Rogers LE; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Health Sciences, Mayo Clinic, Rochester, MN, USA., Hasadsri L; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Barnett S; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Ellingson MS; Division of Laboratory Genetics and Genomics, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Ferber MJ; Clinical Genome Sequencing Laboratory, Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA., Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, USA., Rauch A; Institute of Medical Genetics, University of Zürich, Schlieren, Zürich, Switzerland., Joset P; Institute of Medical Genetics, University of Zürich, Schlieren, Zürich, Switzerland., Steindl K; Institute of Medical Genetics, University of Zürich, Schlieren, Zürich, Switzerland., Sheehan T; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Poduri A; Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Vasquez A; Department of Neurology, Boston Children's Hospital, Boston, MA, USA.; Division of Child and Adolescent Neurology, Department of Neurology, Mayo Clinic, Rochester, MN, USA., Ruivenkamp C; Department of Clinical Genetics, Leiden University Medical Center (LUMC), Leiden, the Netherlands., White SM; Victorian Clinical Genetics Service, Murdoch Children's Research Institute, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Pais L; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Monaghan KG; GeneDx, Gaithersburg, MD, USA., Goldstein DB; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA., Sands TT; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Department of Neurology, The Neurological Institute of New York, Columbia University Irving Medical Center, New York, NY, USA., Aggarwal V; Institute for Genomic Medicine, Columbia University Irving Medical Center, New York, NY, USA.; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA.
Publikováno v:
Epilepsia [Epilepsia] 2021 Jul; Vol. 62 (7), pp. e103-e109. Date of Electronic Publication: 2021 May 26.
Autor:
Eade K; Lowy Medical Research Institute, La Jolla, CA, USA., Gantner ML; Lowy Medical Research Institute, La Jolla, CA, USA., Hostyk JA; Institute for Genomic Medicine, Columbia University, New York, NY, USA., Nagasaki T; Department of Ophthalmology, Columbia University, New York, NY, USA., Giles S; Lowy Medical Research Institute, La Jolla, CA, USA., Fallon R; Lowy Medical Research Institute, La Jolla, CA, USA., Harkins-Perry S; Lowy Medical Research Institute, La Jolla, CA, USA.; The Scripps Research Institute, La Jolla, CA, USA., Baldini M; Department of Bioengineering, University of California, San Diego, CA, USA., Lim EW; Department of Bioengineering, University of California, San Diego, CA, USA., Scheppke L; Lowy Medical Research Institute, La Jolla, CA, USA., Dorrell MI; Lowy Medical Research Institute, La Jolla, CA, USA., Cai C; Department of Ophthalmology, Columbia University, New York, NY, USA., Baugh EH; Institute for Genomic Medicine, Columbia University, New York, NY, USA., Wolock CJ; Institute for Genomic Medicine, Columbia University, New York, NY, USA., Wallace M; Department of Bioengineering, University of California, San Diego, CA, USA., Berlow RB; The Scripps Research Institute, La Jolla, CA, USA., Goldstein DB; Institute for Genomic Medicine, Columbia University, New York, NY, USA., Metallo CM; Department of Bioengineering, University of California, San Diego, CA, USA., Friedlander M; Lowy Medical Research Institute, La Jolla, CA, USA.; The Scripps Research Institute, La Jolla, CA, USA.; Scripps Clinic Medical Group, La Jolla, CA, USA., Allikmets R; Department of Ophthalmology, Columbia University, New York, NY, USA. rla22@cumc.columbia.edu.; Department of Pathology and Cell Biology, Columbia University, New York, NY, USA. rla22@cumc.columbia.edu.
Publikováno v:
Nature metabolism [Nat Metab] 2021 Mar; Vol. 3 (3), pp. 366-377. Date of Electronic Publication: 2021 Mar 22.
Autor:
Sullivan JA; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA., Stong N; Institute for Genomic Medicine, Columbia University, New York, New York, USA., Baugh EH; Institute for Genomic Medicine, Columbia University, New York, New York, USA., McDonald MT; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA., Takeuchi A; Department of Neonatology, Okayama Medical Center, National Hospital Organization, Okayama, Japan., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2020 Aug; Vol. 182 (8), pp. 1947-1951. Date of Electronic Publication: 2020 May 22.
Autor:
Del Dotto V; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy., Ullah F; Center for Human Disease Modeling, Duke University, Durham, North Carolina, USA.; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.; Pakistan Institute of Engineering and Applied Sciences (PIEAS), Faisalabad, Pakistan., Di Meo I; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy., Magini P; Medical Genetics Unit, Sant'Orsola-Malpighi University Hospital, Bologna, Italy., Gusic M; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Human Genetics, Technische Universität München, Munich, Germany., Maresca A; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy., Caporali L; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy., Palombo F; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy., Tagliavini F; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy., Baugh EH; Institute for Genomic Medicine, Columbia University, New York, New York, USA., Macao B; Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden., Szilagyi Z; Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden., Peron C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy., Gustafson MA; Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, USA., Khan K; Center for Human Disease Modeling, Duke University, Durham, North Carolina, USA.; Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering (NIBGE), Faisalabad, Pakistan.; Pakistan Institute of Engineering and Applied Sciences (PIEAS), Faisalabad, Pakistan., La Morgia C; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy., Barboni P; Department of Ophthalmology, Studio Oculistico d'Azeglio, Bologna, Italy., Carbonelli M; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy., Valentino ML; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy., Liguori R; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy., Shashi V; Division of Medical Genetics and., Sullivan J; Division of Medical Genetics and., Nagaraj S; Division of Nephrology, Department of Pediatrics, Duke University School of Medicine, Durham, North Carolina, USA., El-Dairi M; Neuro-Ophthalmology Service and., Iannaccone A; Center for Retinal Degenerations and Ophthalmic Genetic Diseases and Visual Function Diagnostic Laboratory, Duke Eye Center, Duke University School of Medicine, Durham, North Carolina, USA., Cutcutache I; Translational Medicine, UCB Pharma, Slough, United Kingdom., Bertini E; Unit of Muscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Carrozzo R; Unit of Muscular and Neurodegenerative Diseases, Department of Neurosciences, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Emma F; Division of Nephrology, Department of Pediatric Subspecialties, Bambino Gesù Children's Hospital, Rome, Italy., Diomedi-Camassei F; Pathology Unit, Department of Laboratories, Bambino Gesù Children's Hospital, Rome, Italy., Zanna C; Department of Pharmacy and Biotechnology (FABIT), University of Bologna, Bologna, Italy., Armstrong M; Translational Medicine, UCB Pharma, Braine-l'Alleud, Belgium., Page M; Translational Medicine, UCB Pharma, Slough, United Kingdom., Stong N; Institute for Genomic Medicine, Columbia University, New York, New York, USA., Boesch S; Department of Neurology, Medical University Innsbruck, Innsbruck, Austria., Kopajtich R; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Human Genetics, Technische Universität München, Munich, Germany., Wortmann S; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Human Genetics, Technische Universität München, Munich, Germany.; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, Salzburg, Austria., Sperl W; Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University Salzburg, Salzburg, Austria., Davis EE; Center for Human Disease Modeling, Duke University, Durham, North Carolina, USA., Copeland WC; Genome Integrity and Structural Biology Laboratory, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina, USA., Seri M; Medical Genetics Unit, Sant'Orsola-Malpighi University Hospital, Bologna, Italy.; Department of Medical and Surgical Sciences, University of Bologna, Bologna, Italy., Falkenberg M; Department of Medical Biochemistry and Cell Biology, Institute of Biomedicine, University of Gothenburg, Gothenburg, Sweden., Prokisch H; Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.; Institute of Human Genetics, Technische Universität München, Munich, Germany., Katsanis N; Center for Human Disease Modeling, Duke University, Durham, North Carolina, USA.; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, Illinois, USA.; Departments of Pediatrics and Cellular and Molecular Biology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, USA., Tiranti V; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico C. Besta, Milan, Italy., Pippucci T; Medical Genetics Unit, Sant'Orsola-Malpighi University Hospital, Bologna, Italy., Carelli V; Unit of Neurology, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy.; IRCCS Istituto delle Scienze Neurologiche di Bologna, UOC Clinica Neurologica, Bologna, Italy.
Publikováno v:
The Journal of clinical investigation [J Clin Invest] 2020 Jan 02; Vol. 130 (1), pp. 108-125.