Zobrazeno 1 - 10
of 51
pro vyhledávání: '"Rosti RO"'
Autor:
Manole, A, Efthymiou, S, O'Connor, E, Mendes, MI, Jennings, M, Maroofian, R, Davagnanam, I, Mankad, K, Lopez, MR, Salpietro, V, Harripaul, R, Badalato, L, Walia, J, Francklyn, CS, Athanasiou-Fragkouli, A, Sullivan, R, Desai, S, Baranano, K, Zafar, F, Rana, N, Ilyas, M, Horga, A, Kara, M, Mattioli, F, Goldenberg, A, Griffin, H, Piton, A, Henderson, LB, Kara, B, Aslanger, AD, Raaphorst, J, Pfundt, R, Portier, R, Shinawi, M, Kirby, A, Christensen, KM, Wang, L, Rosti, RO, Paracha, SA, Sarwar, MT, Jenkins, D, SYNAPS Study Group, Ahmed, J, Santoni, FA, Ranza, E, Iwaszkiewicz, J, Cytrynbaum, C, Weksberg, R, Wentzensen, IM, Guillen Sacoto, MJ, Si, Y, Telegrafi, A, Andrews, MV, Baldridge, D, Gabriel, H, Mohr, J, Oehl-Jaschkowitz, B, Debard, S, Senger, B, Fischer, F, van Ravenwaaij, C, Fock, AJM, Stevens, SJC, Bähler, J, Nasar, A, Mantovani, JF, Manzur, A, Sarkozy, A, Smith, DEC, Salomons, GS, Ahmed, ZM, Riazuddin, S, Usmani, MA, Seibt, A, Ansar, M, Antonarakis, SE, Vincent, JB, Ayub, M, Grimmel, M, Jelsig, AM, Hjortshøj, TD, Karstensen, HG, Hummel, M, Haack, TB, Jamshidi, Y, Distelmaier, F, Horvath, R, Gleeson, JG, Becker, H, Mandel, J-L, Koolen, DA, Houlden, H
Aminoacyl-tRNA synthetases (ARSs) are ubiquitous, ancient enzymes that charge amino acids to cognate tRNA molecules, the essential first step of protein translation. Here, we describe 32 individuals from 21 families, presenting with microcephaly, neu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=core_ac_uk__::2c2864a4951208740eb522d6f50b63e1
https://openaccess.sgul.ac.uk/id/eprint/112307/2/1-s2.0-S0002929720302044-main.pdf
https://openaccess.sgul.ac.uk/id/eprint/112307/2/1-s2.0-S0002929720302044-main.pdf
Autor:
Rosti, RO
Publikováno v:
Clinical Genetics; Jul2013, Vol. 84 Issue 1, p19-19, 1p
Autor:
Rosti RO; Department of Pathology, University of Virginia, Charlottesville, VA, United States., Williams ES; Department of Pathology, University of Virginia, Charlottesville, VA, United States.
Publikováno v:
Clinical chemistry [Clin Chem] 2023 Jun 01; Vol. 69 (6), pp. 665-666.
Autor:
Webster ALH; Laboratory of Genome Maintenance, Rockefeller University, New York, NY, USA., Sanders MA; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK.; Department of Hematology, Erasmus MC Cancer Institute, Rotterdam, The Netherlands., Patel K; Laboratory of Genome Maintenance, Rockefeller University, New York, NY, USA., Dietrich R; Deutsche Fanconi-Anämie-Hilfe e.V, Unna-Siddinghausen, Germany., Noonan RJ; Laboratory of Genome Maintenance, Rockefeller University, New York, NY, USA., Lach FP; Laboratory of Genome Maintenance, Rockefeller University, New York, NY, USA., White RR; Laboratory of Genome Maintenance, Rockefeller University, New York, NY, USA., Goldfarb A; Laboratory of Genome Maintenance, Rockefeller University, New York, NY, USA., Hadi K; Department of Pathology and Laboratory Medicine, Weill Cornell Medicine and New York Genome Center, New York, NY, USA., Edwards MM; Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY, USA., Donovan FX; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Hoogenboezem RM; Department of Hematology, Erasmus MC Cancer Institute, Rotterdam, The Netherlands., Jung M; Laboratory of Genome Maintenance, Rockefeller University, New York, NY, USA., Sridhar S; Laboratory of Genome Maintenance, Rockefeller University, New York, NY, USA., Wiley TF; Laboratory of Genome Maintenance, Rockefeller University, New York, NY, USA., Fedrigo O; Vertebrate Genomes Laboratory, Rockefeller University, New York, NY, USA., Tian H; Department of Pathology and Laboratory Medicine, Weill Cornell Medicine and New York Genome Center, New York, NY, USA., Rosiene J; Department of Pathology and Laboratory Medicine, Weill Cornell Medicine and New York Genome Center, New York, NY, USA., Heineman T; Laboratory of Genome Maintenance, Rockefeller University, New York, NY, USA., Kennedy JA; Laboratory of Genome Maintenance, Rockefeller University, New York, NY, USA.; Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Bean L; Laboratory of Genome Maintenance, Rockefeller University, New York, NY, USA., Rosti RO; Laboratory of Genome Maintenance, Rockefeller University, New York, NY, USA., Tryon R; Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA., Gonzalez AM; Laboratory of Genome Maintenance, Rockefeller University, New York, NY, USA., Rosenberg A; Laboratory of Genome Maintenance, Rockefeller University, New York, NY, USA., Luo JD; Bioinformatics Resource Center, Rockefeller University, New York, NY, USA., Carroll TS; Bioinformatics Resource Center, Rockefeller University, New York, NY, USA., Shroff S; Department of Genetics and Genomic Sciences. Icahn School of Medicine, Mount Sinai, New York, NY, USA., Beaumont M; Department of Genetics and Genomic Sciences. Icahn School of Medicine, Mount Sinai, New York, NY, USA., Velleuer E; Institute for Pathology, Department for Cytopathology, University Hospital of Düsseldorf, Düsseldorf, Germany.; Pediatric Cancer Center, Helios Hospital Krefeld, Düsseldorf, Germany., Rastatter JC; Division of Pediatric Otolaryngology-Head and Neck Surgery, Ann and Robert H. Lurie Children's Hospital of Chicago, Northwestern University, Chicago, IL, USA.; Department of Otolaryngology-Head and Neck Surgery, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA., Wells SI; Division of Oncology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA., Surrallés J; Genomic Instability and DNA Repair Syndromes Group and Joint Research Unit on Genomic Medicine UAB-Sant Pau Biomedical Research Institute (IIB Sant Pau), Institut de Recerca Hospital de la Santa Creu i Sant Pau-IIB Sant Pau, Barcelona, Spain., Bagby G; Departments of Medicine and Molecular and Medical Genetics, Division of Hematology and Medical Oncology, Knight Cancer Institute, Oregon Health and Science University, Portland, OR, USA., MacMillan ML; Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA., Wagner JE; Department of Pediatrics, University of Minnesota, Minneapolis, MN, USA., Cancio M; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Boulad F; Department of Pediatrics, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Scognamiglio T; Department of Pathology, Weill Cornell Medicine, New York, NY, USA., Vaughan R; Department of Biostatistics, The Rockefeller University, New York, NY, USA., Beaumont KG; Department of Genetics and Genomic Sciences. Icahn School of Medicine, Mount Sinai, New York, NY, USA., Koren A; Department of Molecular Biology and Genetics, Cornell University, Ithaca, NY, USA., Imielinski M; Department of Pathology and Laboratory Medicine, Weill Cornell Medicine and New York Genome Center, New York, NY, USA., Chandrasekharappa SC; Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Auerbach AD; Human Genetics and Hematology Program, The Rockefeller University, New York, NY, USA., Singh B; Department of Surgery, Memorial Sloan Kettering Cancer Center, New York, NY, USA., Kutler DI; Department of Otolaryngology-Head and Neck Surgery, Weill Cornell Medical College, New York, NY, USA., Campbell PJ; Cancer, Ageing and Somatic Mutation (CASM), Wellcome Sanger Institute, Hinxton, UK., Smogorzewska A; Laboratory of Genome Maintenance, Rockefeller University, New York, NY, USA. asmogorzewska@rockefeller.edu.
Publikováno v:
Nature [Nature] 2022 Dec; Vol. 612 (7940), pp. 495-502. Date of Electronic Publication: 2022 Nov 30.
Autor:
Jung M; Laboratory of Genome Maintenance, The Rockefeller University, New York, NY, USA., Mehta PA; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA., Jiang CS; Department of Biostatistics, The Rockefeller University Hospital, The Rockefeller University, New York, NY, USA., Rosti RO; Laboratory of Genome Maintenance, The Rockefeller University, New York, NY, USA., Usleaman G; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA., Correa da Rosa JM; Department of Biostatistics, The Rockefeller University Hospital, The Rockefeller University, New York, NY, USA., Lach FP; Laboratory of Genome Maintenance, The Rockefeller University, New York, NY, USA., Goodridge E; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA., Auerbach AD; Human Genetics and Hematology Program, The Rockefeller University, New York, NY, USA., Davies SM; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH, USA., Smogorzewska A; Laboratory of Genome Maintenance, The Rockefeller University, New York, NY, USA., Boulad F; MSK Kids - Memorial Sloan Kettering, Stem Cell Transplantation and Cellular Therapies, New York, NY, USA.
Publikováno v:
British journal of haematology [Br J Haematol] 2021 Jun; Vol. 193 (5), pp. 971-975. Date of Electronic Publication: 2020 Aug 31.
Autor:
Wang L; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA., Li Z; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA., Sievert D; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA., Smith DEC; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam, Netherlands., Mendes MI; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam, Netherlands., Chen DY; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA.; Department of Pediatrics, University of California San Diego, La Jolla, CA, 92093, USA.; Division of Child Neurology, Rady Children's Hospital, San Diego, CA, 92123, USA., Stanley V; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA., Ghosh S; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA., Wang Y; Laboratory of Biomanufacturing and Food Engineering, Institute of Food Science and Technology, Chinese Academy of Agricultural Sciences, Beijing, 100193, PR China., Kara M; University of Tripoli, Tripoli Children's Hospital, Tripoli, Libya., Aslanger AD; Department of Medical Genetics, Koç University Hospital, Istanbul, 34010, Turkey., Rosti RO; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA., Houlden H; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Salomons GS; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam, Netherlands., Gleeson JG; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA. jogleeson@health.ucsd.edu.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA. jogleeson@health.ucsd.edu.; Department of Pediatrics, University of California San Diego, La Jolla, CA, 92093, USA. jogleeson@health.ucsd.edu.; Division of Child Neurology, Rady Children's Hospital, San Diego, CA, 92123, USA. jogleeson@health.ucsd.edu.
Publikováno v:
Nature communications [Nat Commun] 2021 Feb 15; Vol. 12 (1), pp. 1192. Date of Electronic Publication: 2021 Feb 15.
Autor:
Wang L; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA., Li Z; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA., Sievert D; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA., Smith DEC; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam, Netherlands., Mendes MI; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam, Netherlands., Chen DY; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA.; Department of Pediatrics, University of California San Diego, La Jolla, CA, 92093, USA.; Division of Child Neurology, Rady Children's Hospital, San Diego, CA, 92123, USA., Stanley V; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA., Ghosh S; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA., Wang Y; Laboratory of Biomanufacturing and Food Engineering, Institute of Food Science and Technology, Chinese Academy of Agricultural Sciences, Beijing, 100193, PR China., Kara M; University of Tripoli, Tripoli Children's Hospital, Tripoli, Libya., Aslanger AD; Department of Medical Genetics, Koç University Hospital, Istanbul, 34010, Turkey., Rosti RO; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA., Houlden H; Department of Neuromuscular Disorders, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Salomons GS; Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam, Netherlands., Gleeson JG; Department of Neurosciences, Howard Hughes Medical Institute, University of California San Diego, La Jolla, CA, 92093, USA. jogleeson@health.ucsd.edu.; Rady Children's Institute for Genomic Medicine, Rady Children's Hospital, San Diego, CA, 92123, USA. jogleeson@health.ucsd.edu.; Department of Pediatrics, University of California San Diego, La Jolla, CA, 92093, USA. jogleeson@health.ucsd.edu.; Division of Child Neurology, Rady Children's Hospital, San Diego, CA, 92123, USA. jogleeson@health.ucsd.edu.
Publikováno v:
Nature communications [Nat Commun] 2020 Aug 12; Vol. 11 (1), pp. 4038. Date of Electronic Publication: 2020 Aug 12.
Autor:
Manole A; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Efthymiou S; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK., O'Connor E; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Mendes MI; Metabolic Unit, Department of Clinical Chemistry, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology and Metabolism, Amsterdam, 1081 the Netherlands., Jennings M; Department of Clinical Neurosciences, University of Cambridge, Cambridge, CB2 0QQ UK., Maroofian R; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Davagnanam I; Department of Brain Repair and Rehabilitation, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Mankad K; Department of Neuroradiology, Great Ormond Street Hospital for Children, London, WC1N 3JH, UK., Lopez MR; Institute of Healthy Ageing, Department of Genetics, Evolution and Environment, University College London (UCL), London, WC1E 6BT, UK., Salpietro V; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Harripaul R; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, ON, M5T 1R8, Canada; Institute of Medical Science and Department of Psychiatry, University of Toronto, Toronto, ON, M5T 1R8, Canada., Badalato L; Department of Pediatrics, Queen's University, Kingston, ON, K7L 2V7, Canada., Walia J; Department of Pediatrics, Queen's University, Kingston, ON, K7L 2V7, Canada., Francklyn CS; Department of Biochemistry, University of Vermont College of Medicine, Burlington, VT 05405, USA., Athanasiou-Fragkouli A; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Sullivan R; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Desai S; Department of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA., Baranano K; Department of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA., Zafar F; Department of Pediatrics, Multan Hospital, Multan, 60000, Pakistan., Rana N; Department of Pediatrics, Multan Hospital, Multan, 60000, Pakistan., Ilyas M; University of Islamabad, Islamabad, 45320, Pakistan., Horga A; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK., Kara M; Department of Pediatrics, Tripoli Children's Hospital, Tripoli, Libya., Mattioli F; Institute for Genetics and Molecular and Cellular Biology (IGBMC), University of Strasbourg, CNRS UMR7104, INSERM U1258, Illkirch, 67404, France., Goldenberg A; Département de Génétique, centre de référence anomalies du développement et syndromes malformatifs, CHU de Rouen, Inserm U1245, UNIROUEN, Normandie Université, Centre Normand de Génomique et de Médecine Personnalisée, Rouen, 76031, France., Griffin H; Department of Clinical Neurosciences, University of Cambridge, Cambridge, CB2 0QQ UK., Piton A; Institute for Genetics and Molecular and Cellular Biology (IGBMC), University of Strasbourg, CNRS UMR7104, INSERM U1258, Illkirch, 67404, France., Henderson LB; GeneDx, 207 Perry Parkway Gaithersburg, MD 20877, USA., Kara B; Bezmiâlem Vakıf Üniversitesi, Istanbul, 34093, Turkey., Aslanger AD; Bezmiâlem Vakıf Üniversitesi, Istanbul, 34093, Turkey., Raaphorst J; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands; Department of Neurology, Amsterdam Neuroscience Institute, Amsterdam University Medical Center, 1105AZ Amsterdam, the Netherlands., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands., Portier R; Department of Neurology, Medisch Spectrum Twente, 7512KZ Enschede, the Netherlands., Shinawi M; Department of Pediatrics, Divisions of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, 63110, USA., Kirby A; Division of Medical Genetics, SSM Health Cardinal Glennon Children's Hospital, Saint Louis University School of Medicine, St. Louis, MO 63104, USA., Christensen KM; Division of Medical Genetics, SSM Health Cardinal Glennon Children's Hospital, Saint Louis University School of Medicine, St. Louis, MO 63104, USA., Wang L; Howard Hughes Medical Institute, University of California San Diego and Rady Children's Hospital, La Jolla, CA 92130, USA., Rosti RO; Howard Hughes Medical Institute, University of California San Diego and Rady Children's Hospital, La Jolla, CA 92130, USA., Paracha SA; Institute of Basic Medical Sciences, Khyber Medical University, 25100 Peshawar, Pakistan., Sarwar MT; Institute of Basic Medical Sciences, Khyber Medical University, 25100 Peshawar, Pakistan., Jenkins D; Institute of Child Health, Guilford Street and Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, WC1N 3JH, UK., Ahmed J; Institute of Basic Medical Sciences, Khyber Medical University, 25100 Peshawar, Pakistan., Santoni FA; Department of Genetic Medicine and Development, University of Geneva, 1206 Geneva, Switzerland; Department of Endocrinology, Diabetes, and Metabolism, University Hospital of Lausanne, 1011 Lausanne, Switzerland., Ranza E; Department of Genetic Medicine and Development, University of Geneva, 1206 Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland; Medigenome, The Swiss Institute of Genomic Medicine, Geneva, CH-1207, Switzerland., Iwaszkiewicz J; Swiss Institute of Bioinformatics, Molecular Modeling Group, Batiment Genopode, Unil Sorge, Lausanne, CH-1015, Switzerland., Cytrynbaum C; Hospital for Sick Children, Division of Clinical and Metabolic Genetics, 555 University Ave., Toronto, M5G 1X8, Canada., Weksberg R; Hospital for Sick Children, Division of Clinical and Metabolic Genetics, 555 University Ave., Toronto, M5G 1X8, Canada., Wentzensen IM; GeneDx, 207 Perry Parkway Gaithersburg, MD 20877, USA., Guillen Sacoto MJ; GeneDx, 207 Perry Parkway Gaithersburg, MD 20877, USA., Si Y; GeneDx, 207 Perry Parkway Gaithersburg, MD 20877, USA., Telegrafi A; GeneDx, 207 Perry Parkway Gaithersburg, MD 20877, USA., Andrews MV; Department of Pediatrics, Divisions of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, 63110, USA., Baldridge D; Department of Pediatrics, Divisions of Genetics and Genomic Medicine, Washington University School of Medicine, St. Louis, MO, 63110, USA., Gabriel H; CeGaT GmbH and Praxis für Humangenetik Tuebingen, Tuebingen, 72076, Germany., Mohr J; CeGaT GmbH and Praxis für Humangenetik Tuebingen, Tuebingen, 72076, Germany., Oehl-Jaschkowitz B; Biomedical Centre Cardinal-Wendel-Straße 14, 66424 Hamburg, Germany., Debard S; University of Strasbourg, CNRS, GMGM UMR 7156, Strasbourg, 67083, France., Senger B; University of Strasbourg, CNRS, GMGM UMR 7156, Strasbourg, 67083, France., Fischer F; University of Strasbourg, CNRS, GMGM UMR 7156, Strasbourg, 67083, France., van Ravenwaaij C; University of Groningen, University Medical Center Groningen, Department of Neurology, Groningen, 9713, the Netherlands., Fock AJM; University of Groningen, University Medical Center Groningen, Department of Neurology, Groningen, 9713, the Netherlands., Stevens SJC; Department of Clinical Genetics, Maastricht University Medical Centre, Maastricht, 6211, the Netherlands., Bähler J; Institute of Healthy Ageing, Department of Genetics, Evolution and Environment, University College London (UCL), London, WC1E 6BT, UK., Nasar A; Department of Pediatrics, Queen's University, Kingston, ON, K7L 2V7, Canada., Mantovani JF; Division of Child Neurology, Washington University School of Medicine, St. Louis, MO, 63110, USA., Manzur A; Institute of Child Health, Guilford Street and Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, WC1N 3JH, UK., Sarkozy A; Institute of Child Health, Guilford Street and Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children, London, WC1N 3JH, UK., Smith DEC; Metabolic Unit, Department of Clinical Chemistry, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology and Metabolism, Amsterdam, 1081 the Netherlands., Salomons GS; Metabolic Unit, Department of Clinical Chemistry, Amsterdam University Medical Centers, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology and Metabolism, Amsterdam, 1081 the Netherlands., Ahmed ZM; Department of Biochemistry and Molecular Biology, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA., Riazuddin S; Jinnah Burn and Reconstructive Surgery Center, Allama Iqbal Medical College, University of Health Sciences, Lahore 54550, Pakistan., Riazuddin S; Department of Biochemistry and Molecular Biology, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA., Usmani MA; Department of Biochemistry and Molecular Biology, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA., Seibt A; Department of General Pediatrics, Heinrich-Heine-University, Moorenstr. 5, 40225 Düsseldorf, Germany., Ansar M; Department of Genetic Medicine and Development, University of Geneva, 1206 Geneva, Switzerland; Institute of Molecular and Clinical Ophthalmology Basel, Basel Switzerland., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva, 1206 Geneva, Switzerland; Service of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland; iGE3 Institute of Genetics and Genomics of Geneva, 1211 Geneva, Switzerland., Vincent JB; Campbell Family Mental Health Research Institute, Centre for Addiction and Mental Health, ON, M5T 1R8, Canada; Institute of Medical Science and Department of Psychiatry, University of Toronto, Toronto, ON, M5T 1R8, Canada., Ayub M; Department of Pediatrics, Queen's University, Kingston, ON, K7L 2V7, Canada., Grimmel M; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tübingen, Germany., Jelsig AM; Department of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, 2100, Denmark., Hjortshøj TD; Department of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, 2100, Denmark., Karstensen HG; Department of Clinical Genetics, University Hospital of Copenhagen, Rigshospitalet, 2100, Denmark., Hummel M; Department of Pediatrics, Section of Medical Genetics, West Virginia University, Morgantown, WV 26506-9600, USA., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tübingen, Germany; Centre for Rare Diseases, University of Tuebingen, 72076 Tübingen, Germany., Jamshidi Y; Genetics Centre, Molecular and Clinical Sciences Institute, St George's University of London, London, SW17 0RE, UK., Distelmaier F; Department of General Pediatrics, Heinrich-Heine-University, Moorenstr. 5, 40225 Düsseldorf, Germany., Horvath R; Department of Clinical Neurosciences, University of Cambridge, Cambridge, CB2 0QQ UK., Gleeson JG; Howard Hughes Medical Institute, University of California San Diego and Rady Children's Hospital, La Jolla, CA 92130, USA., Becker H; University of Strasbourg, CNRS, GMGM UMR 7156, Strasbourg, 67083, France., Mandel JL; Institute for Genetics and Molecular and Cellular Biology (IGBMC), University of Strasbourg, CNRS UMR7104, INSERM U1258, Illkirch, 67404, France., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6500HB Nijmegen, the Netherlands., Houlden H; Department of Neuromuscular Disorders, University College London (UCL) Institute of Neurology, Queen Square, London, WC1N 3BG, UK. Electronic address: h.houlden@ucl.ac.uk.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2020 Aug 06; Vol. 107 (2), pp. 311-324. Date of Electronic Publication: 2020 Jul 31.
Autor:
Jung M; Laboratory of Genome Maintenance, The Rockefeller University, New York, NY., Ramanagoudr-Bhojappa R; Cancer Genomics Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD., van Twest S; Genome Stability Unit, St Vincent's Institute of Medical Research, Melbourne, VIC, Australia., Rosti RO; Laboratory of Genome Maintenance, The Rockefeller University, New York, NY., Murphy V; Genome Stability Unit, St Vincent's Institute of Medical Research, Melbourne, VIC, Australia., Tan W; Genome Stability Unit, St Vincent's Institute of Medical Research, Melbourne, VIC, Australia., Donovan FX; Cancer Genomics Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD., Lach FP; Laboratory of Genome Maintenance, The Rockefeller University, New York, NY., Kimble DC; Cancer Genomics Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD., Jiang CS; Department of Biostatistics, The Rockefeller University Hospital, The Rockefeller University, New York, NY., Vaughan R; Department of Biostatistics, The Rockefeller University Hospital, The Rockefeller University, New York, NY., Mehta PA; Division of Bone Marrow Transplantation and Immune Deficiency, Cincinnati Children's Hospital Medical Center, Cincinnati, OH.; Department of Pediatrics, College of Medicine, University of Cincinnati, Cincinnati, OH., Pierri F; Hematology Unit, IRCSS G. Gaslini, Genoa, Italy; and., Dufour C; Hematology Unit, IRCSS G. Gaslini, Genoa, Italy; and., Auerbach AD; Human Genetics and Hematology Program, The Rockefeller University, New York, NY., Deans AJ; Genome Stability Unit, St Vincent's Institute of Medical Research, Melbourne, VIC, Australia., Smogorzewska A; Laboratory of Genome Maintenance, The Rockefeller University, New York, NY., Chandrasekharappa SC; Cancer Genomics Unit, Cancer Genetics and Comparative Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD.
Publikováno v:
Blood [Blood] 2020 Apr 30; Vol. 135 (18), pp. 1588-1602.
Autor:
Guemez-Gamboa A; Howard Hughes Medical Institute, Laboratory for Pediatric Brain Disease, Rockefeller University, New York, NY., Çağlayan AO; Department of Neurosurgery, Yale School of Medicine, New Haven, CT., Stanley V; Department of Neurosciences, University of California, San Diego, La Jolla, CA., Gregor A; Howard Hughes Medical Institute, Laboratory for Pediatric Brain Disease, Rockefeller University, New York, NY., Zaki MS; Department of Clinical Genetics, National Research Centre, Cairo, Egypt., Saleem SN; Radiology Department-Faculty of Medicine, Cairo University, Cairo, Egypt., Musaev D; Department of Neurosciences, University of California, San Diego, La Jolla, CA., McEvoy-Venneri J; Department of Neurosciences, University of California, San Diego, La Jolla, CA., Belandres D; Department of Neurosciences, University of California, San Diego, La Jolla, CA., Akizu N; Department of Neurosciences, University of California, San Diego, La Jolla, CA., Silhavy JL; Department of Neurosciences, University of California, San Diego, La Jolla, CA., Schroth J; Department of Neurosciences, University of California, San Diego, La Jolla, CA., Rosti RO; Howard Hughes Medical Institute, Laboratory for Pediatric Brain Disease, Rockefeller University, New York, NY., Copeland B; Howard Hughes Medical Institute, Laboratory for Pediatric Brain Disease, Rockefeller University, New York, NY., Lewis SM; Howard Hughes Medical Institute, Laboratory for Pediatric Brain Disease, Rockefeller University, New York, NY., Fang R; Howard Hughes Medical Institute, Laboratory for Pediatric Brain Disease, Rockefeller University, New York, NY., Issa MY; Department of Clinical Genetics, National Research Centre, Cairo, Egypt., Per H; Department of Paediatrics, Division of Paediatric Neurology, School of Medicine, Erciyes University, Kayseri, Turkey., Gumus H; Department of Paediatrics, Division of Paediatric Neurology, School of Medicine, Erciyes University, Kayseri, Turkey., Bayram AK; Department of Paediatrics, Division of Paediatric Neurology, School of Medicine, Erciyes University, Kayseri, Turkey., Kumandas S; Department of Paediatrics, Division of Paediatric Neurology, School of Medicine, Erciyes University, Kayseri, Turkey., Akgumus GT; Departments of Neurosurgery, Neurobiology and Genetics, Yale School of Medicine, New Haven, CT., Erson-Omay EZ; Departments of Neurosurgery, Neurobiology and Genetics, Yale School of Medicine, New Haven, CT., Yasuno K; Departments of Neurosurgery, Neurobiology and Genetics, Yale School of Medicine, New Haven, CT., Bilguvar K; Departments of Neurosurgery, Neurobiology and Genetics, Yale School of Medicine, New Haven, CT., Heimer G; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Pillar N; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Shomron N; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Weissglas-Volkov D; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Porat Y; Genoox, Tel Aviv, Israel., Einhorn Y; Genoox, Tel Aviv, Israel., Gabriel S; Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, MA., Ben-Zeev B; Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel., Gunel M; Department of Neurosurgery, Yale School of Medicine, New Haven, CT., Gleeson JG; Howard Hughes Medical Institute, Laboratory for Pediatric Brain Disease, Rockefeller University, New York, NY.; Department of Neurosciences, University of California, San Diego, La Jolla, CA.
Publikováno v:
Annals of neurology [Ann Neurol] 2018 Nov; Vol. 84 (5), pp. 638-647. Date of Electronic Publication: 2018 Oct 04.