Zobrazeno 1 - 10
of 12 451
pro vyhledávání: '"Lupski JR"'
Autor:
Dardas Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait., Duan R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., El-Rashidy OF; Department of Pediatrics, Faculty of Medicine Ain Shams University, Cairo, Egypt., Grochowski CM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Pacific Northwest Research Institute, Seattle, WA, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Bi W; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics, Houston, TX, USA., Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Sep 10. Date of Electronic Publication: 2024 Sep 10.
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.
Autor:
Bassani S; Center for Integrative Genomics, University of Lausanne, Genopode Building, Lausanne, CH, 1015, Switzerland.; Present address: Institute of Medical Genetics, University of Zurich, Zurich, Switzerland., Chrast J; Center for Integrative Genomics, University of Lausanne, Genopode Building, Lausanne, CH, 1015, Switzerland., Ambrosini G; Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.; Bioinformatics Competence Center, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland., Voisin N; Center for Integrative Genomics, University of Lausanne, Genopode Building, Lausanne, CH, 1015, Switzerland.; Present address: Sophia Genetics, St Sulpice, Switzerland., Schütz F; Biostatistics Platform, University of Lausanne, Lausanne, Switzerland., Brusco A; Department of Neurosciences Rita Levi-Montalcini, University of Turin, 10126, Turin, Italy.; Medical Genetics Unit, Città Della Salute E Della Scienza University Hospital, 10126, Turin, Italy., Sirchia F; Department of Neurosciences Rita Levi-Montalcini, University of Turin, 10126, Turin, Italy.; Medical Genetics Unit, Città Della Salute E Della Scienza University Hospital, 10126, Turin, Italy.; Present address: Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Present address: Medical Genetics Unit, IRCCS San Matteo Foundation, Pavia, Italy., Turban L; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Schubert S; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Schlump JU; Department of Pediatrics, Centre for Neuromedicine, Gemeinschaftskrankenhaus Herdecke Gerhard-Kienle-Weg, Herdecke, Germany., DeMille D; Genomics Analysis 396, ARUP Laboratories, Salt Lake City, UT, USA., Bayrak-Toydemir P; Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA., Nelson GR; Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA., Wong KN; Pediatric Neurology, University of Utah School of Medicine, Salt Lake City, UT, USA., Duncan L; Department of Pediatrics, Medical Center North, Vanderbilt University Medical Center, Nashville, TN, USA.; Present address: Mayo Clinic, Rochester, MN, USA., Mosera M; Department of Pediatrics, Medical Center North, Vanderbilt University Medical Center, Nashville, TN, USA., Gilissen C; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Vissers LELM; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Pfundt R; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, The Netherlands., Kersseboom R; Center for Genetic Developmental Disorders Southwest, Zuidwester, Middelharnis, The Netherlands., Yttervik H; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway., Hansen GÅM; Department of Medical Genetics, University Hospital of North Norway, Tromsø, Norway., Smeland MF; Department of Pediatric Rehabilitation, University Hospital of North Norway, Tromsø, Norway., Butler KM; Greenwood Genetic Center, Greenwood, SC, USA., Lyons MJ; Greenwood Genetic Center, Greenwood, SC, USA., Carvalho CMB; Pacific Northwest Research Institute (PNRI), Broadway, Seattle, WA, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Zhang C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Flores-Gallegos L; Hospital Ángeles Puebla, Puebla, Mexico., Morales-Toquero R; Hospital Ángeles Puebla, Puebla, Mexico., Petit F; CHU Lille, Clinique de Génétique, 59000, Lille, France., Yalcin B; Inserm UMR1231, University of Burgundy, 21000, Dijon, France., Tuttle A; GeneDx, Gaithersburg, MD, USA., Elloumi HZ; GeneDx, Gaithersburg, MD, USA., McCormick L; Department of Genetics, Cook Children's Medical Center, Cook Children's Health Care System, Fort Worth, TX, USA., Kukolich M; Department of Genetics, Cook Children's Medical Center, Cook Children's Health Care System, Fort Worth, TX, USA., Klaas O; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany., Horvath J; Institute for Human Genetics, University Hospital Muenster, Muenster, Germany., Scala M; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, 16132, Italy.; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Iacomino M; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Operto F; Department of Medicine, Child and Adolescent Neuropsychiatry Unit, Surgery and Dentistry, University of Salerno, Salerno, Italy., Zara F; Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, 16132, Italy.; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Writzl K; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia.; Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia., Maver A; Clinical Institute of Genomic Medicine, University Medical Centre Ljubljana, Ljubljana, Slovenia., Haanpää MK; Department of Genomics, Turku University Hospital, Turku, Finland; University of Turku, Turku, Finland., Pohjola P; Department of Genomics, Turku University Hospital, Turku, Finland; University of Turku, Turku, Finland., Arikka H; Department of Pediatric Neurology, Turku University Hospital, Turku, Finland; University of Turku, Turku, Finland., Kievit AJA; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Calandrini C; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands., Iseli C; Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.; Bioinformatics Competence Center, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland., Guex N; Bioinformatics Competence Center, University of Lausanne, Lausanne, Switzerland.; Bioinformatics Competence Center, Ecole Polytechnique Fédérale de Lausanne, Lausanne, Switzerland., Reymond A; Center for Integrative Genomics, University of Lausanne, Genopode Building, Lausanne, CH, 1015, Switzerland. alexandre.reymond@unil.ch.
Publikováno v:
Genome medicine [Genome Med] 2024 May 30; Vol. 16 (1), pp. 72. Date of Electronic Publication: 2024 May 30.
Autor:
Calame DG; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address: Daniel.calame@bcm.edu., Wong JH; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228., Panda P; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228., Nguyen DT; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228., Leong NCP; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228., Sangermano R; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA., Patankar SG; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., AlAbdi L; Department of Zoology, College of Science, King Saud University, Riyadh, Saudi Arabia; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Safwat S; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt; Department of Neuroscience and Cell Biology, Rutgers-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, New Brunswick, NJ, USA., Flannery KP; Department of Neuroscience and Cell Biology, Rutgers-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, New Brunswick, NJ, USA., Dardas Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Fatih JM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Murali C; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Kannan V; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Lotze TE; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Boys Town National Research Hospital, Boys Town, NE, USA., Ammouri F; Boys Town National Research Hospital, Boys Town, NE, USA; The University of Kansas Health System, Westwood, KS, USA., Rezich B; Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, NE, USA., Efthymiou S; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK., Alavi S; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK., Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, United Kingdom., Firoozfar Z; Palindrome, Isfahan, Iran., Nasab ME; Meybod Genetic Research Center, Yazd, Iran; Yazd Welfare Organization, Yazd, Iran., Bahreini A; KaryoGen, Isfahan, Iran; Department of Human Genetics, University of Pittsburgh, PA, USA., Ghasemi M; Department of Neurology, Isfahan University of Medical Sciences, Isfahan, Iran., Haridy NA; Department of Neurology, Faculty of Medicine, Assiut University, Assiut, Egypt., Goldouzi HR; Department of Pediatrics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Eghbal F; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace London, London, UK., Begtrup A; GeneDx, Gaithersburg MD 20877 USA., Elloumi H; GeneDx, Gaithersburg MD 20877 USA., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Du H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Jhangiani SN; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Coban-Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Faculty of Medicine, Kuwait University, Kuwait., Rodan L; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA., Isikay S; Gaziantep Islam Science and Technology University, Medical Faculty, Department of Pediatric Neurology, Gaziantep, Turkey., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Baylor Genetics Laboratories, Houston, TX, USA., Ramanathan S; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA., Staton M; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA., Oberg KC; Department of Pathology and Human Anatomy, Loma Linda University School of Medicine, Loma Linda, CA, USA., Clark RD; Division of Genetics, Department of Pediatrics, Loma Linda University School of Medicine, Loma Linda, CA, USA., Wenman C; Rare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3BH, UK., Loughlin S; Rare & Inherited Disease Laboratory, NHS North Thames Genomic Laboratory Hub, Great Ormond Street Hospital for Children NHS Foundation Trust, London, WC1N 3BH, UK., Saad R; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Ashraf T; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Male A; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Tadros S; North East Thames Regional Genetic Service, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Boostani R; Department of Neurology Mashhad University of Medical Sciences, Mashhad, Iran., Abdel-Salam GMH; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Zaki M; Department of Clinical Genetics, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Mardi A; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Hashemi-Gorji F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Abdalla E; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt., Manzini MC; Department of Neuroscience and Cell Biology, Rutgers-Robert Wood Johnson Medical School, Child Health Institute of New Jersey, New Brunswick, NJ, USA., Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Houlden H; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia; Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia., Bujakowska K; Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, MA., Maroofian R; Department of Neuromuscular diseases, UCL Institute of Neurology, WC1N 3BG, London, UK., Lupski JR; Texas Children's Hospital, Houston, TX, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. Electronic address: jlupski@bcm.edu., Nguyen LN; Department of Biochemistry, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 119228; Immunology Program, Life Sciences Institute, National University of Singapore, Singapore 117456; Singapore Lipidomics Incubator (SLING), Life Sciences Institute, National University of Singapore, Singapore 117456; Cardiovascular Disease Research (CVD) Programme, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117545; Immunology Translational Research Program, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117456. Electronic address: bchnnl@nus.edu.sg.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Sep 19, pp. 101273. Date of Electronic Publication: 2024 Sep 19.
Autor:
Daly AF; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Dunnington LA; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center (UTHealth Houston), Houston, TX, USA.; Memorial Hermann-Texas Medical Center, University of Texas Health Science Center at Houston, Houston, TX, USA., Rodriguez-Buritica DF; Department of Pediatrics, Division of Medical Genetics, McGovern Medical School, University of Texas Health Science Center (UTHealth Houston), Houston, TX, USA.; Memorial Hermann-Texas Medical Center, University of Texas Health Science Center at Houston, Houston, TX, USA., Spiegel E; Department of Obstetrics and Gynecology, Columbia University Irving Medical Center, New York, NY, 10032, USA., Brancati F; Department of Life, Health and Environmental Sciences, University of L'Aquila, Via Spennati N.1, L'Aquila, 67010, Italy.; Human Functional Genetics Laboratory, IRCCS San Raffaele Roma, Rome, Italy., Mantovani G; Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy., Rawal VM; Austin Diagnostic Clinic, 2400 Cedar Bend Dr, Austin, TX, 78758, USA., Faucz FR; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Bethesda, MD, USA., Hijazi H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Caberg JH; Department of Human Genetics, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Nardone AM; Medical Genetics Laboratory, Policlinico Tor Vergata Hospital, Viale Oxford 81, Rome, 00133, Italy., Bengala M; Medical Genetics Laboratory, Policlinico Tor Vergata Hospital, Viale Oxford 81, Rome, 00133, Italy., Fortugno P; Human Functional Genetics Laboratory, IRCCS San Raffaele Roma, Rome, Italy.; Università Telematica San Raffaele, Rome, Italy., Del Sindaco G; Endocrinology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Department of Clinical Sciences and Community Health, University of Milan, Milan, Italy., Ragonese M; Department of Human Pathology of Adulthood and Childhood DETEV, Endocrinology Unit, University of Messina, 98125, Messina, Italy., Gould H; Austin Maternal Fetal Medicine, 12200 Renfert Way Ste G3, Austin, TX, 78758, USA., Cannavò S; Department of Human Pathology of Adulthood and Childhood DETEV, Endocrinology Unit, University of Messina, 98125, Messina, Italy., Pétrossians P; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Lania A; Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, Pieve Emanuele, Milan, 20072, Italy.; IRCCS Humanitas Research Hospital, Milan, Italy., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Beckers A; Department of Endocrinology, Centre Hospitalier Universitaire de Liège, University of Liège, Liège, Belgium., Stratakis CA; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), Bethesda, MD, USA.; Human Genetics and Precision Medicine, Institute of Molecular Biology and Biotechnology (IMBB), Foundation for Research and Technology Hellas, Heraklion, Greece.; ASTREA Health, Athens, Greece., Levy B; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY, USA., Trivellin G; Department of Biomedical Sciences, Humanitas University, Via Rita Levi Montalcini 4, Pieve Emanuele, Milan, 20072, Italy. giampaolo.trivellin@hunimed.eu.; IRCCS Humanitas Research Hospital, Milan, Italy. giampaolo.trivellin@hunimed.eu., Franke M; Andalusian Center for Developmental Biology (CABD), Junta de Andalucia - Universidad Pablo de Olavide (UPO) - Consejo Superior de Investigaciones Cientificas (CSIC), Seville, Spain. mfra2@upo.es.
Publikováno v:
Genome medicine [Genome Med] 2024 Sep 13; Vol. 16 (1), pp. 112. Date of Electronic Publication: 2024 Sep 13.
Autor:
Cali E; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK., Quirin T; RNA Molecular Biology, Fonds de la Recherche Scientifique (F.R.S./FNRS), Université libre de Bruxelles (ULB), Biopark campus, B-6041 Gosselies, Belgium., Rocca C; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK., Efthymiou S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK., Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy., Marafi D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Department of Pediatrics, Faculty of Medicine, Kuwait University, Safat, Kuwait., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Suri M; UK National Paediatric Ataxia Telangiectasia Clinic, Nottingham University Hospitals NHS Trust, Nottingham, UK; Nottingham Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Dominguez R; Department of Physiology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., Alavi S; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK; Palindrome, Isfahan, Iran., Abdel-Hamid MS; Medical Molecular Genetics Department, Human Genetics and Genome Research Institute, National Research Centre Cairo, Egypt., Morsy H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK; Human Genetics Department, Medical Research Institute, Alexandria University, Egypt., Mau-Them FT; Unité Fonctionnelle 6254 d'Innovation en Diagnostique Génomique des Maladies Rares, Pôle de Biologie, CHU Dijon Bourgogne, Dijon 21070, France; INSERM UMR1231 GAD, Dijon 21000, France., Nizon M; Service de génétique médicale, CHU de Nantes, Nantes, France; Institut du thorax, INSERM, CNRS, UNIV Nantes, Nantes, France., Tesner P; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Ryba L; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Zafar F; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Pakistan., Rana N; Department of Paediatric Neurology, Children's Hospital and Institute of Child Health, Multan, Pakistan., Saadi NW; College of Medicine/University of Baghdad, Unit of Pediatric Neurology, Children Welfare Teaching Hospital, Baghdad, Iraq., Firoozfar Z; Palindrome, Isfahan, Iran., Gencpinar P; İzmir Katip Çelebi University Tepecik Training and Research Department of Pediatric Neurology, Izmir, Turkey., Unay B; University of Health Sciences, Gülhane Faculty of Medicine, Department of Child Neurology, Ankara, Turkey., Ustun C; University of Health Sciences, Gülhane Faculty of Medicine, Department of Child Neurology, Ankara, Turkey., Bruel AL; Unité Fontctionnelle d'Innovation diagnostiques des maladies rares, FHU TRANSLAD, CHU Dijon Bourgogne, Dijon, 21000, France; INSERM-Université de Bourgogne UMR1231 GAD 'Génétique des Anomalies du Développement', Dijon, 21078, France., Coubes C; Département de Génétique Médicale, Maladies rares et Médecine Personnalisée, et Centre de Référence Anomalies du Développement et Syndromes Malformatifs, CHRU de Montpellier, Montpellier, France., Stefanich J; Genetic Center, Akron Children's Hospital, Akron, Ohio, USA., Sezer O; Department of Medical Genetics, Samsun University, Faculty of Medicine, Samsun, Turkey., Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Novelli A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy., Vasco G; Department of Neurosciences, Unit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Lettori D; Department of Neurosciences, Unit of Neurorehabilitation, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy., Milh M; Aix-Marseille Univ, APHM, department of Pediatrics Neurology. Timone children Hospital. Marseille, France., Villard L; Aix Marseille Univ, Inserm, MMG, Marseille, France; Service de Génétique Médicale, AP-HM, Hôpital de La Timone, Marseille, France., Zeidler S; Department of Clinical Genetics, Erasmus MC, 3015 GD Rotterdam, The Netherlands., Opperman H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Strehlow V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt., El Khassab H; Sulaiman Al Habib Hospital - Olaya Medical Complex - Riyadh, Saudi Arabia., Chand P; Department of Paediatric and Child Health, Aga Khan University Hospital, Karachi, Pakistan., Ibrahim S; Department of Paediatric and Child Health, Aga Khan University Hospital, Karachi, Pakistan., Nejad-Rashidi A; Maternal, Fetal and Neonatal Research Center, Family Health Research Institute, Tehran University of Medical Sciences, Tehran, Iran; Genetics Ward, Yas Hospital Complex, Tehran University of Medical Sciences, Tehran, Iran., Miryounesi M; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Larki P; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Morrison J; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA., Cristian I; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA., Thiffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, MO, United States; Kansas City School of Medicine, University of Missouri, Kansas City, MO, United States; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, United States., Bertsch NL; The Community Health Clinic, Shipshewana, Indiana, USA., Noh GJ; Department of Genetics, Southern California Permanente Medical Group, Fontana, CA 92335, USA., Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY 10016, USA; Clinical Genetics, NYU Orthopedic Hospital, New York, NY 10010, USA., Moran E; Clinical Genetics, Center for Children, Hassenfeld Children's Hospital, New York University, New York, New York, USA., Marinakis NM; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Traeger-Synodinos J; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Hosseini S; Pardis Pathobiology and Genetics Laboratory, Mashhad, Iran., Abbaszadegan MR; Department of Medical Genetics and Molecular Medicine, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran; Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Caumes R; Service de Génétique Clinique, CHU Lille, Lille, France., Vissers LELM; Department of Human Genetics, Radboudumc University Medical Center, Nijmegen, the Netherlands; Donders Institute for Brain, Cognition and Behaviour, Radboud University, Nijmegen, the Netherlands., Neshatdoust M; Department of Cell and Molecular Biology and Microbiology, Faculty of Biological Science and Technology, University of Isfahan, Isfahan, Iran., Montazer MZ; Genetics of Non-Communicable Disease Research Center, Zahedan University of Medical Sciences, Zahedan, Iran., El Fahime E; National Centre for Scientific and Technical Research, Rabat, Morocco., Canavati C; Molecular Genetics Laboratory, Istishari Arab Hospital, Ramallah, Palestine., Kamal L; Molecular Genetics Laboratory, Istishari Arab Hospital, Ramallah, Palestine., Kanaan M; Molecular Genetics Laboratory, Istishari Arab Hospital, Ramallah, Palestine., Askander O; Faculty of Medical Sciences, Mohammed 6 Polytechnic University of Benguerir, Ben Guerir, Morocco., Voinova V; Veltischev Research and Clinical Institute for Pediatrics of the Pirogov, Russian National Research Medical University, Ministry of Health of Russian Federation, Moscow, Russia, 125412; Mental Health Research Center, Moscow, Russia, 117152., Levchenko O; Research Centre for Medical Genetics, Moscow, Russia., Haider S; Paediatrics Wah Medical College NUMS, Wah Cantonment, Punjab 44000, Pakistan., Halbach SS; University of Chicago Medicine, University of Chicago, Chicago, IL, USA., Maia ER; Division of Genetics, Universidade Federal de Campina Grande, Campina Grande, Paraíba, Brazil., Mansoor S; Cellular, Molecular and Genetics Research Center, Isfahan University of Medical Sciences, Isfahan, Iran; Medical Genetics Research Center of Genome, Isfahan University of Medical Sciences, Isfahan, Iran., Vivek J; Department of Pediatric Neurology, Neo Clinic Children's Hospital, Jaipur 302019, India., Tawde S; Department of Human Genetics, The University of Chicago, Illinois., Santhosh R Challa V; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, India., Victor LA; Department of Pediatric Neurology - Instituto de Medicina Integral Prof. Fernando Figueira (IMIP), Boa Vista, Recife, Brazil., Pinero-Banos B; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Hague J; Clinical Genetics service, Northampton General Hospital, Northampton NN15BD, UK., Ei-Awady HA; Department of Pediatrics, Fayoum University Hospitals, Fayoum, Egypt., Maria de Miranda Henriques-Souza A; Instituto de Medicina Integral Prof. Fernando Figueira, Centro de Terapias Cetogênicas do IMIP, Recife PE, Brazil., Cheema HA; Department of Pediatric Gastroenterology Hepatology and Genetic diseases Children's Hospital and University of Child Health Sciences Lahore, Pakistan., Anjum MN; Department of Pediatric Gastroenterology Hepatology and Genetic diseases Children's Hospital and University of Child Health Sciences Lahore, Pakistan., Idkaidak S; Al-Quds University, Jerusalem, Palestine., Alqarajeh F; PRCS hospital, Hebron, Palestine., Atawneh O; PRCS hospital, Hebron, Palestine., Mor-Shaked H; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Zifarelli G; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany., Bauer P; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany., Kok F; Mendelics Genomic Analysis, São Paulo, Brazil., Kitajima JP; Mendelics Genomic Analysis, São Paulo, Brazil., Monteiro F; Mendelics Genomic Analysis, São Paulo, Brazil., Josahkian J; Mendelics Genomic Analysis, São Paulo, Brazil., Lesca G; Hospices Civils de Lyon, Service de Génétique, Bron, France; Pathophysiology and Genetics of Neuron and Muscle (PGNM, UCBL - CNRS UMR5261 - INSERM U1315), Université Claude Bernard Lyon 1, Lyon, France., Chatron N; Hospices Civils de Lyon, Service de Génétique, Bron, France; Pathophysiology and Genetics of Neuron and Muscle (PGNM, UCBL - CNRS UMR5261 - INSERM U1315), Université Claude Bernard Lyon 1, Lyon, France., Ville D; Department of Neuropediatric, University Hospital of Lyon, Lyon, France., Murphy D; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK., Neul JL; Department of Pediatrics, Vanderbilt Kennedy Center, Vanderbilt University Medical Center, Nashville, TN, USA., Mullegama SV; GeneDx, Gaithersburg, MD 20877, USA., Begtrup A; GeneDx, Gaithersburg, MD 20877, USA., Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Mitani T; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Tay CG; Clinical Research Centre, Sunway Medical Centre, Malaysia., Javed I; Department of Paediatric Neurology, Children Hospital and Institute of Child Health, Faisalabad, Pakistan., Carr L; Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK., Kanani F; Sheffield Clinical Genetics Service, Sheffield Children's NHS Foundation Trust, Sheffield, UK., Beecroft F; Birmingham Health Partners, West Midlands Regional Genetics Service, Birmingham Women's and Children's National Health Service (NHS) Foundation Trust, Birmingham, UK., Hane L; Division of Medical Genetics, 3Billion Inc, Seoul, South Korea., Abdelkreem E; Department of Pediatrics, Faculty of Medicine, Sohag University, Sohag, Egypt., Macek M; Department of Biology and Medical Genetics, 2nd Faculty of Medicine, Charles University and Motol University Hospital, Prague, Czech Republic., Bispo L; Laboratório Mendelics, Department of Genetic, São Paulo, Brazil., Elmaksoud MA; Neurology Unit, Department of Pediatrics, Faculty of Medicine, Alexandria University, Egypt., Hashemi-Gorji F; Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, Iran., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX., Amor DJ; Murdoch Children's Research Institute and University of Melbourne of Melbourne Department of Paediatrics, Royal Children's Hospital, Melbourne, Australia., Jamra RA; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Chung WK; Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusset's, USA., Ghayoor EK; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London SW17 0RE, UK; Innovative Medical Research Center, Mashhad Branch, Islamic Azad University, Mashhad, Iran., Campeau P; CHU Sainte-Justine Research Center, Montreal, QC, Canada; Department of Pediatrics, Faculty of Medicine, Université de Montréal, Montreal, QC, Canada., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Pagnamenta AT; NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK., Gleeson J; Department of Neurosciences, University of California, San Diego, La Jolla 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego 92123, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy., Moreno-De-Luca A; Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, Ontario, Canada., Lafontaine DLJ; RNA Molecular Biology, Fonds de la Recherche Scientifique (F.R.S./FNRS), Université libre de Bruxelles (ULB), Biopark campus, B-6041 Gosselies, Belgium., Houlden H; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK., Maroofian R; Department of Neuromuscular Diseases, University College London, Queen Square, Institute of Neurology, WC1N 3BG London, UK. Electronic address: r.maroofian@ucl.ac.uk.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Sep 10, pp. 101251. Date of Electronic Publication: 2024 Sep 10.
Autor:
Banks E; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Francis V; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Lin SJ; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Kharfallah F; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Fonov V; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Lévesque M; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Han C; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Kulasekaran G; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Tuznik M; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Bayati A; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Al-Khater R; Johns Hopkins Aramco Healthcare, Dhahran, Saudi Arabia., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Argyriou L; Institute of Human Genetics, University Medical Center, Göttingen, Germany., Babaei M; Department of Pediatrics, North Khorasan University of Medical Sciences, Bojnurd, Iran., Bahlo M; Walter and Eliza Hall Institute for Medical Research, Parkville, VIC, Australia., Bakhshoodeh B; Mashhad University of Medical Sciences, Mashhad, Iran., Barr E; Department of Human Genetics, Emory University, Atlanta, GA, USA., Bartik L; University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Department of Pediatrics, Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO, USA., Bassiony M; Faculty of Medicine, Alexandria University, Alexandria, Egypt., Bertrand M; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Braun D; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Buchert R; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Budetta M; Paediatric and Child Neurology Unit, Cava de' Tirreni AOU S. Giovanni di Dio e Ruggiero d'Aragona Hospital, Salerno, Italy., Cadieux-Dion M; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA., Calame DG; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Cope H; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Cushing D; Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, ON, Canada., Efthymiou S; Department of Neuromuscular Diseases, University College London (UCL) Queen Square Institute of Neurology, London, UK., Elmaksoud MA; Neurology Unit, Department of Pediatrics, Faculty of Medicine, University of Alexandria, Alexandria, Egypt., El Said HG; Neurology Unit, Department of Pediatrics, Faculty of Medicine, University of Alexandria, Alexandria, Egypt., Froukh T; Department of Biotechnology and Genetic Engineering, Philadelphia University, Amman, Jordan., Gill HK; Provincial Medical Genetics Program at BC Women's Health Centre, Vancouver, BC, Canada., Gleeson JG; Department of Neurosciences, University of California San Diego, La Jolla, CA, USA.; Rady Children's Institute for Genomic Medicine, San Diego, CA, USA., Gogoll L; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Goh ES; Laboratory Medicine and Genetics, Trillium Health Partners, Mississauga, ON, Canada., Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Haack TB; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany., Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Hauser S; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Center for Neurology and Hertie Institute for Clinical Brain Research, University Tübingen, Tübingen, 72076, Germany., Hoffman TL; Department of Regional Genetics, Southern California Kaiser Permanente Medical Group, Anaheim, CA, USA., Hogue JS; Madigan Army Medical Center, Tacoma, WA, USA., Hosokawa A; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Houlden H; Department of Neuromuscular Diseases, University College London (UCL) Queen Square Institute of Neurology, London, UK., Huang K; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Huynh S; Provincial Medical Genetics Program at BC Women's Health Centre, Vancouver, BC, Canada., Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace, London, UK.; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Kaulfuß S; Institute of Human Genetics, University Medical Center, Göttingen, Germany., Korenke GC; Department of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, Oldenburg, Germany., Kritzer A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA., Lee H; 3billion Inc, Seoul, South Korea., Lupski JR; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Marco EJ; Cortica Healthcare, San Rafael, CA, USA., McWalter K; GeneDx, Gaithersburg, MD, USA., Minassian A; Centre for Applied Genomics, Genetics, and Genome Biology, Hospital for Sick Children, Toronto, ON, Canada., Minassian BA; Department of Pediatrics and Neurology, UT Southwestern Medical Center, Dallas, TX, USA., Murphy D; Department of Clinical and Movement Neurosciences, University College London (UCL) Queen Square Institute of Neurology, London, UK., Neira-Fresneda J; Department of Human Genetics, Emory University, Atlanta, GA, USA., Northrup H; Department of Pediatrics, McGovern Medical School at the University of Texas Health Science Center at Houston (UTHealth) and Children's Memorial Hermann Hospital, Houston, TX, USA., Nyaga DM; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Oehl-Jaschkowitz B; BIOSCIENTIA-MVZ-Labor-Saar-Practice of Human Genetics, Homburg (Saar), Germany., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada., Person R; GeneDx, Gaithersburg, MD, USA., Pehlivan D; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Petree C; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Saunders C; University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO, USA.; Center for Pediatric Genomic Medicine Children's Mercy, Kansas City, MO, USA., Schoels L; German Center of Neurodegenerative Diseases (DZNE), Tübingen, Germany.; Center for Neurology and Hertie Institute for Clinical Brain Research, University Tübingen, Tübingen, 72076, Germany., Shashi V; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Spillmann RC; Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, USA., Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bangalore, India., Torbati PN; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Tos T; Department of Medical Genetics, University of Health Sciences, Zubeyde Hanim Research and Training Hospital of Women's Health and Diseases, Ankara, Turkey., Zaki MS; Human Genetics and Genome Research Institute, Clinical Genetics Department, National Research Centre, Cairo, Egypt., Zhou D; University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Department of Pediatrics, Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, MO, USA., Zweier C; Department of Human Genetics, Inselspital, Bern University Hospital, University of Bern, Bern, Switzerland., Trempe JF; Department of Pharmacology & Therapeutics and Centre de Recherche en Biologie Structurale, McGill University, Montréal, QC, Canada., Durcan TM; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Gan-Or Z; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; Department of Human Genetics, McGill University, Montréal, QC, Canada., Avoli M; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada., Alves C; Division of Neuroradiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA., Varshney GK; Genes & Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK, USA., Maroofian R; Department of Neuromuscular Diseases, University College London (UCL) Queen Square Institute of Neurology, London, UK., Rudko DA; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada.; McConnell Brain Imaging Centre, the Neuro, Montréal, QC, Canada.; Department of Biomedical Engineering, McGill University, Montréal, QC, Canada., McPherson PS; Department of Neurology and Neurosurgery, the Neuro, McGill University, Montréal, QC, Canada. peter.mcpherson@mcgill.ca.
Publikováno v:
Nature communications [Nat Commun] 2024 Aug 22; Vol. 15 (1), pp. 7239. Date of Electronic Publication: 2024 Aug 22.
Autor:
Nieto-Patlán A; Division of Immunology, Allergy, and Retrovirology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, United States., Fernández Dávila NS; Division of Immunology, Allergy, and Retrovirology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, United States., Wang Y; Department of Integrative Physiology, Baylor College of Medicine, Houston, TX, United States., Zelnick M; Division of Immunology, Allergy, and Retrovirology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, United States., Muscal E; Division of Rheumatology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, United States., Curry M; Division of Rheumatology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, United States., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, United States.; Texas Children's Hospital, Houston, TX, United States., Holland SM; Laboratory of Clinical Immunology and Microbiology, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Frederick, MD, United States., Yuan B; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States., Kuhns DB; Neutrophil Monitoring Laboratory, Clinical Services Program, Leidos Biomedical Research Inc., Frederick National Laboratory for Cancer Research, Frederick, MD, United States., Vogel TP; Division of Rheumatology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, United States., Chinn IK; Division of Immunology, Allergy, and Retrovirology, Department of Pediatrics, Baylor College of Medicine and Texas Children's Hospital, Houston, TX, United States.
Publikováno v:
Frontiers in pediatrics [Front Pediatr] 2024 Aug 20; Vol. 12, pp. 1425874. Date of Electronic Publication: 2024 Aug 20 (Print Publication: 2024).
Autor:
Bozkurt-Yozgatli T; Department of Biostatistics and Bioinformatics, Institute of Health Sciences, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey.; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA., Pehlivan D; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Section of Pediatric Neurology and Develop- Mental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Sezerman U; Department of Biostatistics and Bioinformatics, Institute of Health Sciences, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey.; Department of Biostatistics and Medical Informatics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, Istanbul, Turkey., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA., Lupski JR; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu.; Texas Children's Hospital, Houston, TX, USA. jlupski@bcm.edu.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. jlupski@bcm.edu.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA. jlupski@bcm.edu., Coban-Akdemir Z; Human Genetics Center, Department of Epidemiology, Human Genetics, and Environmental Sciences, School of Public Health, University of Texas Health Science Center at Houston, Houston, TX, USA. Zeynep.H.CobanAkdemir@uth.tmc.edu.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, 77030, USA. Zeynep.H.CobanAkdemir@uth.tmc.edu.
Publikováno v:
BMC medical genomics [BMC Med Genomics] 2024 Aug 07; Vol. 17 (1), pp. 201. Date of Electronic Publication: 2024 Aug 07.
Autor:
Potter AS; The Ohio State University Wexner Medical Center, Davis Heart and Lung Research Institute, Columbus, OH (A.S.P.).; Cardiovascular Research Institute (A.S.P., C.Y.M., Y.A.-S., M.M.H., S.K.L., X.H.T.W.).; Division of Cardiology, University of Texas Medical Branch, Galveston (A.S.P.)., Miyake CY; Cardiovascular Research Institute (A.S.P., C.Y.M., Y.A.-S., M.M.H., S.K.L., X.H.T.W.).; Department of Integrative Physiology (C.Y.M., Y.A.-S., M.M.H., S.K.L., X.H.T.W.).; Department of Pediatrics, Section of Pediatric Cardiology, Texas Children's Hospital, Houston (C.Y.M., M.S.A., X.H.T.W.)., Gonzaga-Jauregui C; Department of Molecular and Human Genetics (C.G.-J., J.R.L., S.R.L.).; International Laboratory for Human Genome Research, Laboratorio Internacional de Investigación sobre el Genoma Humano, Universidad Nacional Autónoma de México, Juriquilla, Querétaro (C.G.-J.)., Aguilar-Sanchez Y; Cardiovascular Research Institute (A.S.P., C.Y.M., Y.A.-S., M.M.H., S.K.L., X.H.T.W.).; Department of Integrative Physiology (C.Y.M., Y.A.-S., M.M.H., S.K.L., X.H.T.W.)., Hulsurkar MM; Cardiovascular Research Institute (A.S.P., C.Y.M., Y.A.-S., M.M.H., S.K.L., X.H.T.W.).; Department of Integrative Physiology (C.Y.M., Y.A.-S., M.M.H., S.K.L., X.H.T.W.)., Lahiri SK; Cardiovascular Research Institute (A.S.P., C.Y.M., Y.A.-S., M.M.H., S.K.L., X.H.T.W.).; Department of Integrative Physiology (C.Y.M., Y.A.-S., M.M.H., S.K.L., X.H.T.W.)., Moreira LM; University of Oxford, Cardiovascular Medicine, Radcliffe Department of Medicine, United Kingdom (L.M.M., N.M., S.R.)., Mehta N; University of Oxford, Cardiovascular Medicine, Radcliffe Department of Medicine, United Kingdom (L.M.M., N.M., S.R.)., Azamian MS; Department of Pediatrics, Section of Pediatric Cardiology, Texas Children's Hospital, Houston (C.Y.M., M.S.A., X.H.T.W.)., Lupski JR; Department of Molecular and Human Genetics (C.G.-J., J.R.L., S.R.L.).; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX (J.R.L.).; Texas Children's Hospital, Houston (J.R.L., S.R.L.)., Reilly S; University of Oxford, Cardiovascular Medicine, Radcliffe Department of Medicine, United Kingdom (L.M.M., N.M., S.R.)., Lalani SR; Department of Molecular and Human Genetics (C.G.-J., J.R.L., S.R.L.).; Texas Children's Hospital, Houston (J.R.L., S.R.L.)., Wehrens XHT; Cardiovascular Research Institute (A.S.P., C.Y.M., Y.A.-S., M.M.H., S.K.L., X.H.T.W.).; Department of Integrative Physiology (C.Y.M., Y.A.-S., M.M.H., S.K.L., X.H.T.W.).; Department of Pediatrics, Section of Pediatric Cardiology, Texas Children's Hospital, Houston (C.Y.M., M.S.A., X.H.T.W.).
Publikováno v:
Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2024 Aug; Vol. 17 (4), pp. e004614. Date of Electronic Publication: 2024 Jul 02.
Publikováno v:
American journal of ophthalmology [Am J Ophthalmol] 2001 Jan; Vol. 131 (1), pp. 156.