Zobrazeno 1 - 10
of 76
pro vyhledávání: '"Rodan LH"'
Autor:
Gladstone DJ, Rodan LH, Sahlas DJ, Lee L, Murray BJ, Ween JE, Perry JR, Chenkin J, Morrison LJ, Beck S, Black SE, Gladstone, David J, Rodan, Lance H, Sahlas, Demetrios J, Lee, Liesly, Murray, Brian J, Ween, Jon E, Perry, James R, Chenkin, Jordan, Morrison, Laurie J
Publikováno v:
Stroke (00392499); Dec2009, Vol. 40 Issue 12, p3841-3844, 4p
Publikováno v:
Neurology; 2006 Dec 12, Vol. 67 Issue 11, p2048-2049, 2p
Autor:
Le C; Department of Neurology, 675 Nelson Rising Lane, University of California San Francisco San Francisco, California, 94158, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, California, 94158, USA., Argilli E; Department of Neurology, 675 Nelson Rising Lane, University of California San Francisco San Francisco, California, 94158, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, California, 94158, USA., George E; Department of Radiology and Biomedical Imaging, University of California San Francisco, California, 94122, USA., Kalaycı T; Istanbul University, Istanbul Faculty of Medicine, Medical Genetics Department, Istanbul, Turkey., Uyguner ZO; Istanbul University, Istanbul Faculty of Medicine, Medical Genetics Department, Istanbul, Turkey., Karaman B; Istanbul University, Istanbul Faculty of Medicine, Medical Genetics Department, Istanbul, Turkey.; Istanbul University, Child Health Institute, Basic Pediatric Science, Istanbul, Turkey., Demirören T; Yeditepe University, Faculty of Medicine Department, Department of Obstetrics and Gynecology, Istanbul, Turkey., Heron D; Assistance Publique-Hôpitaux de Paris Sorbonne Université (Pitié Salpêtrière et Trousseau), Paris, France., Sabatier I; Department of Pediatric Neurology, Hôpital Femme Mère Enfant, Lyon, France., Rodan LH; Division of Genetics and Genomics and Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, 02115, USA., Girisha KM; Suma Genomics Private Limited, Manipal, India.; Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Radhakrishnan P; Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Saunders C; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, 64108, USA.; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, Missouri, 64108, USA.; University of Missouri Kansas City, School of Medicine, Kansas City, Missouri, 64108, USA., Sullivan B; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, 64108, USA.; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, Missouri, 64108, USA.; University of Missouri Kansas City, School of Medicine, Kansas City, Missouri, 64108, USA., Fleming E; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, 64108, USA.; Genomic Medicine Center, Children's Mercy Research Institute, Kansas City, Missouri, 64108, USA.; University of Missouri Kansas City, School of Medicine, Kansas City, Missouri, 64108, USA., Alvi JR; Department of Paediatrics, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab, Pakistan., Sultan T; Department of Paediatrics, The Children's Hospital and the University of Child Health Sciences, Lahore, Punjab, Pakistan., Houlden H; Department of Neuromuscular Disorders, University College London (UCL) Queen Square Institute of Neurology, London, United Kingdom., Efthymiou S; Department of Neuromuscular Disorders, University College London (UCL) Queen Square Institute of Neurology, London, United Kingdom., Guillen Sacoto MJ; GeneDx, Gaithersburg, Maryland, 20877, USA., Goodman M; Ochsner Health System, New Orleans, Louisiana, 70121, USA., Pierron L; Sorbonne Université, University Hospital Pitié-Salpêtrière, Assistance Publique-Ho-pitaux de Paris, Department of Medical Genetics, Paris, France., De Sainte-Agathe JM; Sorbonne Université, University Hospital Pitié-Salpêtrière, Assistance Publique-Ho-pitaux de Paris, Department of Medical Genetics, Paris, France., Durr A; Sorbonne Université, Paris Brain Institute - Institut du Cerveau, Institut National de la Santé et de la Recherche Médicale, Centre National de la Recherche Scientifique, Assistance Publique-Ho-pitaux de Paris, University Hospital Pitié-Salpe-trière, Paris, France., Sherr EH; Department of Neurology, 675 Nelson Rising Lane, University of California San Francisco San Francisco, California, 94158, USA.; Institute of Human Genetics and Weill Institute for Neurosciences, University of California, San Francisco, California, 94158, USA.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2024 Oct 30. Date of Electronic Publication: 2024 Oct 30.
Autor:
Jangam SV; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Briere LC; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Jay KL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Andrews JC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA., Walker MA; Department of Neurology, Division of Neurogenetics, Child Neurology, Massachusetts General Hospital, Boston, MA 02114, USA., Rodan LH; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA., High FA; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA., Sweetser DA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA., Wangler MF; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA.
Publikováno v:
Genetics [Genetics] 2023 Aug 09; Vol. 224 (4).
Autor:
Jangam S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030 USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, 77030 USA., Briere LC; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA., Jay K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030 USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, 77030 USA.; Genetics and Genomics program, Baylor College of Medicine, Houston, Texas, 77030 USA., Andrews JC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030 USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, 77030 USA., Walker MA; Department of Neurology, Division of Neurogenetics, Child Neurology, Massachusetts General Hospital, Boston, MA 02114, USA., Rodan LH; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA., High FA; Division of Medical Genetics & Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA., Yamamoto S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030 USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, 77030 USA.; Genetics and Genomics program, Baylor College of Medicine, Houston, Texas, 77030 USA., Sweetser DA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA 02114, USA.; Division of Medical Genetics & Metabolism, Massachusetts General Hospital for Children, Boston, MA 02114, USA., Wangler M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, 77030 USA.; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital, Houston, Texas, 77030 USA.; Genetics and Genomics program, Baylor College of Medicine, Houston, Texas, 77030 USA.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2023 Feb 03. Date of Electronic Publication: 2023 Feb 03.
Autor:
Hiatt SM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA. Electronic address: shiatt@hudsonalpha.org., Trajkova S; Department of Medical Sciences, University of Torino, 10126 Torino, Italy., Sebastiano MR; Molecular Biotechnology and Health Sciences Department, Università degli Studi di Torino, via Quarello 15, 10135 Torino, Italy., Partridge EC; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Abidi FE; Greenwood Genetic Center, Greenwood, SC 29646, USA., Anderson A; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Ansar M; Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile des Aveugles, Lausanne, Switzerland; Advanced Molecular Genetics and Genomics Disease Research and Treatment Centre, Dow University of Health Sciences, Karachi, Pakistan., Antonarakis SE; Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland., Azadi A; Obestetrics and Gynecology Department, Golestan University of Medical Sciences, Gorgan, Iran., Bachmann-Gagescu R; Institute of Medical Genetics, University of Zurich, Schlieren 8952, Switzerland., Bartuli A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Benech C; Univ Brest, Inserm, EFS, UMR 1078, GGB, 29200 Brest, France., Berkowitz JL; GeneDx, LLC, Gaithersburg, MD 20877, USA., Betti MJ; Vanderbilt University Medical Center, Nashville, TN 37232, USA., Brusco A; Department of Medical Sciences, University of Torino, 10126 Torino, Italy., Cannon A; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Caron G; Molecular Biotechnology and Health Sciences Department, Università degli Studi di Torino, via Quarello 15, 10135 Torino, Italy., Chen Y; GeneDx, LLC, Gaithersburg, MD 20877, USA., Cochran ME; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Coleman TF; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Crenshaw MM; Pediatrics and Medical Genetics, University of Colorado, Aurora CO, USA., Cuisset L; Service de Médecine Génomique des Maladies de Système et d'Organe, Département Médico-Universitaire BioPhyGen, Hôpital Cochin, APHP, Université Paris Cité, Paris, France., Curry CJ; Genetic Medicine, UCSF/Fresno, Fresno, CA 93701, USA., Darvish H; Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran; Nikagene Genetic Diagnostic Laboratory, Gorgan, Golestan, Iran., Demirdas S; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Descartes M; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Douglas J; Boston Children's Hospital, Boston, MA, USA., Dyment DA; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Elloumi HZ; GeneDx, LLC, Gaithersburg, MD 20877, USA., Ermondi G; Molecular Biotechnology and Health Sciences Department, Università degli Studi di Torino, via Quarello 15, 10135 Torino, Italy., Faoucher M; Service de Génétique Moléculaire et Génomique, CHU, Rennes 35033, France; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes 35000, France., Farrow EG; Children's Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, KS, USA., Felker SA; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Fisher H; Children's Medical Center, Dallas, TX, USA., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Joset P; Medical Genetics, Institute of Medical Genetics and Pathology, University Hospital Basel, Basel, Switzerland., Kelly MA; HudsonAlpha Clinical Services Lab, LLC, Huntsville, AL 35806, USA., Kmoch S; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic., Leadem BR; GeneDx, LLC, Gaithersburg, MD 20877, USA., Lyons MJ; Greenwood Genetic Center, Greenwood, SC 29646, USA., Macchiaiolo M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Magner M; Department of Pediatrics and Inherited Metabolic Disorders, General University Hospital and First faculty of Medicine, Charles University, Prague, Czech Republic., Mandrile G; Medical Genetics Unit and Thalassemia Center, San Luigi University Hospital, University of Torino, Orbassano, Italy., Mattioli F; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., McEown M; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Meadows SK; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Medne L; Childrens Hospital of Philadelphia, Philadelphia, PA, USA., Meeks NJL; Section of Genetics & Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA., Montgomery S; Division of Genetics and Metabolism, Children's Health, Dallas, TX, USA., Napier MP; GeneDx, LLC, Gaithersburg, MD 20877, USA., Natowicz M; Pathology & Laboratory Medicine, Genomic Medicine, Neurological and Pediatrics Institutes, Cleveland Clinic, Cleveland, OH, USA., Newberry KM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Niceta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Noskova L; Research Unit for Rare Diseases, Department of Pediatrics and Inherited Metabolic Disorders, 1st Faculty of Medicine, Charles University in Prague, Prague, Czech Republic., Nowak CB; Boston Children's Hospital, Boston, MA, USA., Noyes AG; GeneDx, LLC, Gaithersburg, MD 20877, USA., Osmond M; Children's Hospital of Eastern Ontario Research Institute, Ottawa, ON, Canada., Prijoles EJ; Greenwood Genetic Center, Greenwood, SC 29646, USA., Pugh J; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Pullano V; Department of Medical Sciences, University of Torino, 10126 Torino, Italy., Quélin C; Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, CHU Hôpital Sud, Rennes, France., Rahimi-Aliabadi S; Department of Pharmacology and Toxicology, College of Pharmacy, University of Utah, Salt Lake City, UT 84112, USA., Rauch A; Institute of Medical Genetics, University of Zurich, Schlieren 8952, Switzerland; University Children's Hospital Zurich, University of Zurich, Zurich 8032, Switzerland., Redon S; Univ Brest, Inserm, EFS, UMR 1078, GGB, 29200 Brest, France; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France; Centre de Référence Déficiences Intellectuelles de causes rares, Brest, France., Reymond A; Center for Integrative Genomics, University of Lausanne, Lausanne, Switzerland., Schwager CR; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO, USA., Sellars EA; Genetics and Metabolism, Arkansas Children's Hospital, Little Rock, AR 72202, USA., Scheuerle AE; Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, TX, USA., Shukarova-Angelovska E; Department of Endocrinology and Genetics, University Clinic for Children's Diseases, Medical Faculty, University Sv. Kiril i Metodij, Skopje, Republic of Macedonia., Skraban C; Childrens Hospital of Philadelphia, Philadelphia, PA, USA., Stolerman E; Greenwood Genetic Center, Greenwood, SC 29646, USA., Sullivan BR; Division of Genetics, Children's Mercy Kansas City, Kansas City, MO, USA., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Thiffault I; Children's Mercy Kansas City, Center for Pediatric Genomic Medicine, Kansas City, KS, USA., Uguen K; Univ Brest, Inserm, EFS, UMR 1078, GGB, 29200 Brest, France; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France; Centre de Référence Déficiences Intellectuelles de causes rares, Brest, France., Umaña LA; Department of Pediatrics, Division of Genetics and Metabolism, University of Texas Southwestern Medical Center, Dallas, TX, USA., van Bever Y; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., van der Crabben SN; Amsterdam University Medical Centers, Department of Clinical Genetics, Amsterdam, the Netherlands., van Slegtenhorst MA; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Waisfisz Q; Department of Human Genetics, Amsterdam University Medical Centers, VU University Amsterdam, Amsterdam, The Netherlands; Amsterdam Neuroscience, Amsterdam, The Netherlands., Washington C; Greenwood Genetic Center, Greenwood, SC 29646, USA., Rodan LH; Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA 02115, USA., Myers RM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA., Cooper GM; HudsonAlpha Institute for Biotechnology, Huntsville, AL 35806, USA. Electronic address: gcooper@hudsonalpha.org.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2023 Feb 02; Vol. 110 (2), pp. 215-227. Date of Electronic Publication: 2022 Dec 30.
Autor:
Huang Y, Lemire G, Briere LC, Liu F, Wessels MW, Wang X, Osmond M, Kanca O, Lu S, High FA, Walker MA, Rodan LH, Wangler MF, Yamamoto S, Kernohan KD, Sweetser DA, Boycott KM, Bellen HJ
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2022 Nov 03; Vol. 109 (11), pp. 2092.
Autor:
Lai A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA., Soucy A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA., El Achkar CM; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA., Barkovich AJ; Department of Radiology, University of California, San Francisco, CA., Cao Y; Department of Pathology and Immunology, Washington University School of Medicine in St. Louis, St. Louis, MO., DiStefano M; Broad Institute of MIT and Harvard, Cambridge, MA; Precision Health Program, Geisinger, Danville, PA., Evenson M; Department of Pathology and Immunology, Washington University School of Medicine in St. Louis, St. Louis, MO., Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, Meyer Children's University Hospital, University of Florence, Florence, Italy., Knight D; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA., Lee YS; Department of Pathology and Immunology, Washington University School of Medicine in St. Louis, St. Louis, MO., Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Hospital, Memphis, TN., Miller DT; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA., Mirzaa G; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA; Department of Pediatrics, University of Washington, Seattle, WA., Mochida G; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA., Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA., Patel M; Broad Institute of MIT and Harvard, Cambridge, MA., Smith L; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA., Spencer S; Division of Reproductive Genetics, Northwestern Medicine, Chicago, IL., Walsh CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA., Yang E; Department of Radiology, Boston Children's Hospital and Harvard Medical School, Boston, MA., Yuskaitis CJ; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA., Yu T; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA. Electronic address: timothy.yu@childrens.harvard.edu., Poduri A; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA. Electronic address: annapurna.poduri@childrens.harvard.edu.
Publikováno v:
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Nov; Vol. 24 (11), pp. 2240-2248. Date of Electronic Publication: 2022 Aug 23.
Autor:
Thomas Q; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France. Electronic address: quentin.thomas@chu-dijon.fr., Motta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Gautier T; University Grenoble Alpes, Inserm, CNRS, Institute for Advanced Biosciences, 38000 Grenoble, France., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt; Armed Forces College of Medicine, Cairo, Egypt., Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Paccaud J; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France., Girodon F; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Biology Division, Department of Biological Hematology, Dijon Hospital, 21000 Dijon, France., Boespflug-Tanguy O; Université Paris Cité, UMR 1141 NeuroDiderot, Inserm, 75019 Paris, France; Service de Neuropédiatrie, reference center for leukodystrophies, APHP, Hopital Robert Debré, 75019 Paris, France., Besnard T; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CHU Nantes, CNRS, Inserm, l'Institut du Thorax, 44000 Nantes, France., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada., McConkey H; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada., Masson A; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France., Denommé-Pichon AS; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Cogné B; Service de Génétique Médicale, CHU Nantes, Nantes, France; Université de Nantes, CHU Nantes, CNRS, Inserm, l'Institut du Thorax, 44000 Nantes, France., Trochu E; Service de Génétique Médicale, CHU Nantes, Nantes, France., Vignard V; Université de Nantes, CHU Nantes, CNRS, Inserm, l'Institut du Thorax, 44000 Nantes, France., El It F; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France., Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA., Alkhateeb MA; Women Wellness and Research Center Hamad Medical Corporation, Doha, Qatar., Jamra RA; Institute of Human Genetics, University Medical Center, Leipzig, Germany., Duplomb L; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France., Tisserant E; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France., Duffourd Y; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France., Bruel AL; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Jackson A; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., Banka S; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester, UK; Manchester Centre for Genomic Medicine, St Mary's Hospital, Manchester University NHS Foundation Trust, Health Innovation Manchester, Manchester, UK., McEntagart M; Medical Genetics, St George's University Hospitals NHS FT, London SW17 0RE, UK., Saggar A; Medical Genetics, St George's University Hospitals NHS FT, London SW17 0RE, UK; The Portland Hospital, 205-209 Great Portland St, London W1W 5AH, UK., Gleeson JG; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA; Rady Children's Institute for Genomic Medicine, San Diego, La Jolla, CA 92093, USA., Sievert D; Department of Neurosciences, University of California, San Diego, La Jolla, CA 92093, USA., Bae H; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea., Lee BH; Department of Pediatrics, Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, Republic of Korea., Kwon K; 3billion, Inc, Seoul, South Korea., Seo GH; 3billion, Inc, Seoul, South Korea., Lee H; 3billion, Inc, Seoul, South Korea., Saeed A; Children's Hospital and University of Child Health Lahore, Lahore, Pakistan., Anjum N; Children's Hospital and University of Child Health Lahore, Lahore, Pakistan., Cheema H; Children's Hospital and University of Child Health Lahore, Lahore, Pakistan., Alawbathani S; CENTOGENE GmbH, 18055 Rostock, Germany., Khan I; CENTOGENE GmbH, 18055 Rostock, Germany., Pinto-Basto J; CENTOGENE GmbH, 18055 Rostock, Germany., Teoh J; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore, A(∗)STAR, Singapore, Singapore., Wong J; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore, A(∗)STAR, Singapore, Singapore., Sahari UBM; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore, A(∗)STAR, Singapore, Singapore., Houlden H; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Zhelcheska K; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Pannetier M; Service d'Hématologie cellulaire et hémostase bioclinique, CHU Rennes, Rennes, France., Awad MA; Clinical and Chemical Pathology Department, Medical Research and Clinical Studies Institute National Research Centre, Cairo, Egypt., Lesieur-Sebellin M; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfant Malades, AP-HP, Paris, France., Barcia G; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfant Malades, AP-HP, Paris, France., Amiel J; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfant Malades, AP-HP, Paris, France., Delanne J; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Centre de Référence maladies rares « Anomalies du Développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Philippe C; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Faivre L; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Centre de Référence maladies rares « Anomalies du Développement et syndromes malformatifs », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Odent S; Service de Génétique Clinique, Centre Référence Anomalies du Développement CLAD Ouest, Univ Rennes, Rennes, France; Institut de Génétique et Développement de Rennes, CNRS Inserm UMR 6290, ERL 1305, Univ Rennes, Rennes, France., Bertoli-Avella A; CENTOGENE GmbH, 18055 Rostock, Germany., Thauvin C; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France; Centre de référence maladies rares « déficiences intellectuelles de causes rares », Centre de Génétique, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Sadikovic B; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON N6A 5W9, Canada; Department of Pathology and Laboratory Medicine, Western University, London, ON N6A 3K7, Canada., Reversade B; Laboratory of Human Genetics & Therapeutics, Genome Institute of Singapore, A(∗)STAR, Singapore, Singapore; Medical Genetics Department, School of Medicine, Koç University, Istanbul, Turkey; Smart-Health Initiative, King Abdullah University of Science and Technology, Thuwal, Saudi Arabia., Maroofian R; Department of Neuromuscular Disease, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK., Govin J; University Grenoble Alpes, Inserm, CNRS, Institute for Advanced Biosciences, 38000 Grenoble, France., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, 00146 Rome, Italy., Vitobello A; UMR1231 GAD, Inserm, Université Bourgogne-Franche Comté, Dijon, France; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, FHU-TRANSLAD, CHU Dijon Bourgogne, Dijon, France. Electronic address: antonio.vitobello@u-bourgogne.fr.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2022 Oct 06; Vol. 109 (10), pp. 1909-1922. Date of Electronic Publication: 2022 Aug 30.
Autor:
Andzelm MM; Department of Neurology Children's Hospital Boston Boston Massachusetts USA., Balasubramaniam S; Western Sydney Genetics Program The Children's Hospital at Westmead Sydney New South Wales Australia.; Department of Metabolic Medicine and Rheumatology Perth Children's Hospital Perth Western Australia Australia., Yang E; Department of Radiology Children's Hospital Boston Boston Massachusetts USA., Compton AG; Murdoch Children's Research Institute Melbourne Victoria Australia.; Department of Paediatrics University of Melbourne Melbourne Victoria Australia., Millington K; Division of Endocrinology, Department of Pediatrics Children's Hospital Boston Boston Massachusetts USA., Zhu J; Division of Endocrinology, Department of Pediatrics Children's Hospital Boston Boston Massachusetts USA., Anselm I; Department of Neurology Children's Hospital Boston Boston Massachusetts USA., Rodan LH; Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Department of Pediatrics Children's Hospital Boston Boston Massachusetts USA., Thorburn DR; Murdoch Children's Research Institute Melbourne Victoria Australia.; Department of Paediatrics University of Melbourne Melbourne Victoria Australia.; Victorian Clinical Genetic Services Melbourne Victoria Australia., Christodoulou J; Murdoch Children's Research Institute Melbourne Victoria Australia.; Department of Paediatrics University of Melbourne Melbourne Victoria Australia.; Victorian Clinical Genetic Services Melbourne Victoria Australia., Srivastava S; Department of Neurology Children's Hospital Boston Boston Massachusetts USA.
Publikováno v:
JIMD reports [JIMD Rep] 2022 Aug 23; Vol. 63 (5), pp. 391-399. Date of Electronic Publication: 2022 Aug 23 (Print Publication: 2022).