Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Bertsch NL"'
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:
Culver JO; USC Norris Comprehensive Cancer Center, University of Southern California, Los Angeles, CA. Electronic address: jculver@med.usc.edu., Bertsch NL; The Community Health Clinic, Topeka, IN., Kurz RN; Charles R. Drew University of Medicine and Science, Los Angeles, CA., Cheng LL; Quest Diagnostics Nichols Institute, San Juan Capistrano, CA., Pritzlaff M; Ambry Genetics, Aliso Viejo, CA., Rao SK; GeneXsure LLC, Nashville, TN., Stasi SM; Seattle Children's Hospital, Seattle, WA., Stave CD; Stanford University School of Medicine, Stanford, CA., Sharaf RN; Division of Gastroenterology, Department of Medicine and Division of Epidemiology, Department of Population Health Sciences, Weill Cornell Medicine, New York, NY.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Jan; Vol. 26 (1), pp. 100980. Date of Electronic Publication: 2023 Sep 06.
Autor:
Klee EW, Cousin MA, Pinto E Vairo F, Morales-Rosado JA, Macke EL, Jenkinson WG, Ferrer A, Schultz-Rogers LE, Olson RJ, Oliver GR, Sigafoos AN, Schwab TL, Zimmermann MT, Urrutia RA, Kaiwar C, Gupta A, Blackburn PR, Boczek NJ, Prochnow CA, Lowy RJ, Mulvihill LA, McAllister TM, Aoudia SL, Kruisselbrink TM, Gunderson LB, Kemppainen JL, Fisher LJ, Tarnowski JM, Hager MM, Kroc SA, Bertsch NL, Agre KE, Jackson JL, Macklin-Mantia SK, Murphree MI, Rust LM, Summer Bolster JM, Beck SA, Atwal PS, Ellingson MS, Barnett SS, Rasmussen KJ, Lahner CA, Niu Z, Hasadsri L, Ferber MJ, Marcou CA, Clark KJ, Pichurin PN, Deyle DR, Morava-Kozicz E, Gavrilova RH, Dhamija R, Wierenga KJ, Lanpher BC, Babovic-Vuksanovic D, Farrugia G, Schimmenti LA, Stewart AK, Lazaridis KN
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Feb; Vol. 25 (2), pp. 100359.
Autor:
Klee EW; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA. klee.eric@mayo.edu.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA. klee.eric@mayo.edu.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA. klee.eric@mayo.edu., Cousin MA; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Pinto E Vairo F; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Morales-Rosado JA; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Macke EL; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Jenkinson WG; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Ferrer A; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Schultz-Rogers LE; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Olson RJ; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Oliver GR; Department of Health Sciences Research, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Sigafoos AN; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Schwab TL; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA., Urrutia RA; Division of Research, Department of Surgery and the Genomic Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA., Kaiwar C; Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ, USA., Gupta A; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Blackburn PR; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Boczek NJ; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Prochnow CA; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Lowy RJ; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Mulvihill LA; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., McAllister TM; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Aoudia SL; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Kruisselbrink TM; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Gunderson LB; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Kemppainen JL; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Fisher LJ; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Tarnowski JM; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Hager MM; Department of Clinical Genomics, Mayo Clinic, Scottsdale, AZ, USA., Kroc SA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Bertsch NL; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Agre KE; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Jackson JL; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA., Macklin-Mantia SK; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA., Murphree MI; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Rust LM; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Summer Bolster JM; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Beck SA; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Atwal PS; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA.; Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL, USA., Ellingson MS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Barnett SS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Rasmussen KJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Lahner CA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Niu Z; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Hasadsri L; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Ferber MJ; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA., Marcou CA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Clark KJ; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Pichurin PN; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Deyle DR; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Morava-Kozicz E; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Gavrilova RH; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Dhamija R; Center for Individualized Medicine, Mayo Clinic, Scottsdale, AZ, USA.; Department of Clinical Genomics, Mayo Clinic, Scottsdale, AZ, USA., Wierenga KJ; Department of Clinical Genomics, Mayo Clinic, Jacksonville, FL, USA.; Center for Individualized Medicine, Mayo Clinic, Jacksonville, FL, USA., Lanpher BC; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Babovic-Vuksanovic D; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Farrugia G; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Division of Gastroenterology and Hepatology, College of Medicine, Mayo Clinic, Rochester, MN, USA., Schimmenti LA; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Stewart AK; Princess Margaret Cancer Centre, Toronto, ON, Canada., Lazaridis KN; Center for Individualized Medicine, College of Medicine, Mayo Clinic, Rochester, MN, USA. Lazaridis.Konstantinos@mayo.edu.; Division of Gastroenterology and Hepatology, College of Medicine, Mayo Clinic, Rochester, MN, USA. Lazaridis.Konstantinos@mayo.edu.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2021 Mar; Vol. 23 (3), pp. 498-507. Date of Electronic Publication: 2020 Nov 04.
Autor:
Pinto E Vairo F; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Kroc SA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Bertsch NL; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Sigafoos AN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Lee HB; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Dsouza NR; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA., Clark KJ; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Biochemistry and Molecular Biology, Mayo Clinic, Rochester, MN, USA., Pichurin PN; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Zimmermann MT; Bioinformatics Research and Development Laboratory, Genomics Sciences and Precision Medicine Center, Medical College of Wisconsin, Milwaukee, WI, USA; Clinical and Translational Sciences Institute, Medical College of Wisconsin, Milwaukee, WI, USA. Electronic address: mtzimmermann@mcw.edu., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA. Electronic address: klee.eric@mayo.edu.
Publikováno v:
Thrombosis research [Thromb Res] 2020 Nov; Vol. 195, pp. 187-189. Date of Electronic Publication: 2020 Jul 09.
Autor:
Drivas TG; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Li D; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Nair D; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Alaimo JT; 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., Alders M; Department of Clinical Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands., Altmüller J; Cologne Center for Genomics, University of Cologne, Cologne, Germany., Barakat TS; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Bebin EM; University of Alabama at Birmingham, Birmingham, AL, USA., Bertsch NL; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA., Blackburn PR; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA., Blesson A; Department of Bone and Osteogenesis Imperfecta, Kennedy Krieger Institute, Baltimore, MD, 21205, USA., Bouman AM; Department of Clinical Genetics, Erasmus MC, University Medical Center, Rotterdam, The Netherlands., Brockmann K; Pediatrics and Pediatric Neurology, University Medical Center Göttingen, Göttingen, Germany., Brunelle P; Univ. Lille, EA 7364-RADEME-Maladies RAres du DEveloppement embryonnaire et du MEtabolisme, F-59000, Lille, France.; CHU Lille, Institut de Génétique Médicale, F-59000, Lille, France., Burmeister M; Michigan Neuroscience Institute, University of Michigan, Ann Arbor, MI, USA.; Departments of Computational Medicine & Bioinformatics, Psychiatry and Human Genetics, University of Michigan, Ann Arbor, MI, USA., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA., Denecke J; Department of Pediatrics, University Medical Center Hamburg, Eppendorf, Germany., Dieux-Coëslier A; Univ. Lille, EA 7364-RADEME-Maladies RAres du DEveloppement embryonnaire et du MEtabolisme, F-59000, Lille, France.; CHU Lille, Institut de Génétique Médicale, F-59000, Lille, France., Dubbs H; Department of Pediatrics, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Ferrer A; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Gal D; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, 3525433, Israel., Bartik LE; University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO, USA., Gunderson LB; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA., Hasadsri L; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA., Jain M; Department of Bone and Osteogenesis Imperfecta, Kennedy Krieger Institute, Baltimore, MD, 21205, USA., Karimov C; Department of Medical Genetics, , Children's Hospital Los Angeles, Keck School of Medicine of University of Southern California, Los Angeles, CA, 90027, USA., Keena B; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Kloth K; Institute of Human Genetics, University Medical Center Hamburg, Eppendorf, Germany., Lace B; Clinical Geneticist Medical Genetics Department, CHUQ-CHUL, Quebec, Canada., Macchiaiolo M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Marcadier JL; Division of Medical Genetics, Alberta Children's Hospital, Calgary, AB, Canada., Milunsky JM; Center for Human Genetics, Cambridge, MA, USA., Napier MP; Department of Pediatrics London Health Sciences Centre and Western University, London, ON, Canada., Ortiz-Gonzalez XR; Department of Pediatrics, Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Pereleman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Pichurin PN; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA., Pinner J; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, Australia., Powis Z; Ambry Genetics, Aliso Viejo, CA, USA., Prasad C; Department of Pediatrics London Health Sciences Centre and Western University, London, ON, Canada., Radio FC; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Rasmussen KJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, 55905, USA., Renaud DL; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, 55905, USA., Rush ET; University of Missouri-Kansas City, School of Medicine, Kansas City, MO, USA.; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO, USA.; Division of Endocrinology, Metabolism, Osteoporosis, and Genetics, Department of Internal Medicine, University of Kansas Medical Center, Kansas City, KS, USA., 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.; Division of Clinical Genetics, Department of Pediatrics, Children's Mercy Hospital, Kansas City, MO, USA., Selcen D; Department of Neurology, Mayo Clinic, Rochester, MN, 55905, USA., Seman AR; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA, USA., Shinde DN; Ambry Genetics, Aliso Viejo, CA, USA., Smith ED; Ambry Genetics, Aliso Viejo, CA, USA., Smol T; Univ. Lille, EA 7364-RADEME-Maladies RAres du DEveloppement embryonnaire et du MEtabolisme, F-59000, Lille, France.; CHU Lille, Institut de Génétique Médicale, F-59000, Lille, France., Snijders Blok L; Human Genetics Department, Radboud University Medical Center, Nijmegen, the Netherlands.; Language & Genetics Department, Max Planck Institute for Psycholinguistics, Nijmegen, the Netherlands., Stoler JM; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA, USA., Tang S; Ambry Genetics, Aliso Viejo, CA, USA., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146, Rome, Italy., Thompson ML; HudsonAlpha Institute for Biotechnology, Huntsville, AL, 35806, USA., van de Kamp JM; Department of Clinical Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Wang J; Department of Pediatrics, Peking University First Hospital, Beijing, China.; Key Laboratory for Neuroscience, Ministry of Education/National Health and Family Planning Commission, Peking University, Beijing, China., Weise D; Pediatrics and Pediatric Neurology, University Medical Center Göttingen, Göttingen, Germany., Weiss K; The Genetics Institute, Rambam Health Care Campus, 3109601, Haifa, Israel., Woitschach R; Institute of Human Genetics, University Medical Center Hamburg, Eppendorf, Germany., Wollnik B; Institute of Human Genetics, University Medical Center Göttingen, Göttingen, Germany.; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, 37073, Göttingen, Germany., Yan H; Michigan Neuroscience Institute, University of Michigan, Ann Arbor, MI, USA.; Department of Pediatrics, Peking University First Hospital, Beijing, China., Zackai EH; Children's Hospital of Philadelphia, Philadelphia, PA, USA., Zampino G; Center for Rare Disease and Congenital Defects, Fondazione Policlinico Universitario A. Gemelli, IRCCS, Università Cattolica del Sacro Cuore, 00168, Rome, Italy., Campeau P; Department of Pediatrics, Medical Genetics Division, University of Montreal, Montreal, Canada., Bhoj E; Children's Hospital of Philadelphia, Philadelphia, PA, USA. bhoje@email.chop.edu.
Publikováno v:
European journal of human genetics : EJHG [Eur J Hum Genet] 2020 Oct; Vol. 28 (10), pp. 1422-1431. Date of Electronic Publication: 2020 Jun 01.
Autor:
Nicola P; University Hospital of South Manchester NHS Foundation Trust, Manchester, United Kingdom.; Manchester Centre for Genomic Medicine, Manchester, United Kingdom., Blackburn PR; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota.; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Rasmussen KJ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Bertsch NL; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota., Klee EW; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota.; Department of Health Sciences Research, Mayo Clinic, Rochester, Minnesota.; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota., Hasadsri L; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota., Pichurin PN; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota., Rankin J; Clinical Genetics Department, Royal Devon and Exeter NHS Foundation Trust, Exeter, United Kingdom., Raymond FL; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom., Clayton-Smith J; Manchester Centre for Genomic Medicine, Manchester, United Kingdom.; Division of Evolution and Genomic Sciences, School of Biological Sciences, University of Manchester, Manchester, United Kingdom.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2019 Apr; Vol. 179 (4), pp. 570-578. Date of Electronic Publication: 2019 Feb 07.