Zobrazeno 1 - 10
of 25
pro vyhledávání: '"Skraban CM"'
Autor:
Nomakuchi TT; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Teferedegn EY; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Li D; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Muirhead KJ; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Dubbs H; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Leonard J; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Muraresku C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Sergio E; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Arnold K; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Pizzino A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Wang K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Ganetzky RD; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Vanderver AL; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Ahrens-Nicklas RC; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Bhoj EJK; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul 19, pp. e63817. Date of Electronic Publication: 2024 Jul 19.
Autor:
Sisroe T; AU/UGA Medical Partnership of the Medical College of Georgia, University of Georgia Health Sciences Campus, Athens, Georgia, USA., Santos AD; AU/UGA Medical Partnership of the Medical College of Georgia, University of Georgia Health Sciences Campus, Athens, Georgia, USA., Rippert AL; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Gray C; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Skraban CM; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA., Nelson B; Clinical Teaching Unit, St. George's University School of Medicine, St. George's, Grenada., Tefft S; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Helbig I; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Li D; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Bhoj EJ; Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.; Center for Applied Genomics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Sobering AK; AU/UGA Medical Partnership of the Medical College of Georgia, University of Georgia Health Sciences Campus, Athens, Georgia, USA.; Department of Biochemistry, St. George's University School of Medicine, St. George's, Grenada.; Windward Islands Research and Education Foundation, True Blue, St. George's, Grenada.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul 15, pp. e63816. Date of Electronic Publication: 2024 Jul 15.
Autor:
Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Rosenfelt C; Department of Pediatrics, University of Alberta, Edmonton, AB T6G 1C9, Canada., Vignard V; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Papendorf JJ; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Möller S; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Wendlandt M; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Studencka-Turski M; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Cogné B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Ruffier L; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Toutain B; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Poirier L; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Cuinat S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Kritzer A; Division of Genetics and Genomics, Department of Medicine, Boston Children's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA, USA., Crunk A; GeneDx, Gaithersburg, MD 20877, USA., diMonda J; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA., Vengoechea J; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, USA., Mercier S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Kleinendorst L; Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Emma Center for Personalized Medicine, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., van Haelst MM; Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Emma Center for Personalized Medicine, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Human Genetics, Amsterdam UMC, Amsterdam UMC, Location AMC, Amsterdam, the Netherlands., Zuurbier L; Amsterdam Reproduction & Development Research Institute, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands; Department of Human Genetics, Amsterdam UMC, Amsterdam UMC, Location AMC, Amsterdam, the Netherlands., Sulem T; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland., Katrínardóttir H; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland., Friðriksdóttir R; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland., Sulem P; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland., Stefansson K; deCODE Genetics/Amgen, Inc., Reykjavik, Iceland., Jonsdottir B; Childrens Hospital Hringurinn, National University Hospital of Iceland, Reykjavik, Iceland., Zeidler S; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, the Netherlands., Sinnema M; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Stegmann APA; Department of Clinical Genetics, Maastricht University Medical Center, Maastricht, the Netherlands., Naveh N; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Gray C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Murrell JR; Department of Pathology and Laboratory Medicine, Children's Hospital of the University of Pennsylvania, Philadelphia, PA, USA., Isikay S; Division of Pediatric Neurology, Department of Pediatrics, Gaziantep Islam, Science and Technology University Faculty of Medicine, Gaziantep, Türkiye., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX 77030, USA., Calame DG; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX 77030, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA., Nizon M; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., McWalter K; GeneDx, Gaithersburg, MD 20877, USA., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA., Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Bolduc FV; Department of Pediatrics, University of Alberta, Edmonton, AB T6G 1C9, Canada; Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB T6G 2E1, Canada; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada., Bézieau S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Krüger E; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany. Electronic address: elke.krueger@uni-greifswald.de., Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Ebstein F; Nantes Université, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany. Electronic address: frederic.ebstein@univ-nantes.fr.
Publikováno v:
American journal of human genetics [Am J Hum Genet] 2024 Jul 11; Vol. 111 (7), pp. 1352-1369. Date of Electronic Publication: 2024 Jun 11.
Autor:
Iwata-Otsubo A; Division of Human Genetics/Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. aotsubo@med.umich.edu.; Department of Pathology, University of Michigan, 2800 Plymouth Rd, Ann Arbor, MI, 48109, USA. aotsubo@med.umich.edu., Skraban CM; Division of Human Genetics/Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Department of Pediatrics, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA, 19104, USA., Yoshimura A; Laboratory of Genome Structure and Function, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo, 113-0032, Japan., Sakata T; Laboratory of Genome Structure and Function, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo, 113-0032, Japan., Alves CAP; Department of Radiology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Fiordaliso SK; Division of Human Genetics/Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Kuroda Y; Division of Human Genetics/Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Vengoechea J; Department of Human Genetics, Emory University, Atlanta, GA, 30322, USA., Grochowsky A; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, 37232, USA., Ernste P; Department of Pediatrics, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.; Invitae, San Francisco, CA, 94103, USA., Lulis L; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Nesbitt A; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Veritas Genetics, Danvers, MA, 01923, USA., Tayoun AA; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Genomics Center of Excellence, Al Jalila Children's Specialty Hospital, Dubai Health, Center for Genomic Discovery, Mohammed Bin Rashid University, Dubai Health, UAE., Gray C; Division of Human Genetics/Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Towne MC; Ambry Genetics, Aliso Viejo, CA, 92656, USA., Radtke K; Ambry Genetics, Aliso Viejo, CA, 92656, USA., Normand EA; GeneDx, Gaithersburg, MD, 20877, USA., Rhodes L; GeneDx, Gaithersburg, MD, 20877, USA., Seiler C; Zebrafish Core, The Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Shirahige K; Laboratory of Genome Structure and Function, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo, 113-0032, Japan., Izumi K; Division of Human Genetics/Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. Kosuke.Izumi@UTsouthwestern.edu.; Department of Pediatrics, Perelman School of Medicine, The University of Pennsylvania, Philadelphia, PA, 19104, USA. Kosuke.Izumi@UTsouthwestern.edu.; Laboratory of Rare Disease Research, Institute for Quantitative Biosciences, The University of Tokyo, Tokyo, 113-0032, Japan. Kosuke.Izumi@UTsouthwestern.edu.; Division of Genetics and Metabolism, Department of Pediatrics, University of Texas Southwestern Medical Center, 5323 Harry Hines Blvd., Dallas, TX, 75390-8573, USA. Kosuke.Izumi@UTsouthwestern.edu.
Publikováno v:
Human genetics [Hum Genet] 2024 Mar; Vol. 143 (3), pp. 437-453. Date of Electronic Publication: 2024 Mar 23.
Autor:
Regan-Fendt KE; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Rippert AL; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Medne L; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., DeJesse J; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Gray C; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Reichert SL; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Staropoli NP; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Santos FJR; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Krantz ID; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Murrell JR; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Departments of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Izumi K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2023 Aug; Vol. 191 (8), pp. 2149-2155. Date of Electronic Publication: 2023 May 22.
Autor:
Saffari A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Division of Child Neurology and Inherited Metabolic Diseases, Heidelberg University Hospital, Heidelberg, Germany., Lau T; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Tajsharghi H; School of Health Sciences, Division of Biomedicine, University of Skovde, Skovde, Sweden., 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., Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran., Efthymiou S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Zifarelli G; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany., Sultan T; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Toosi MB; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad, Iran., Sedighzadeh S; Department of Biological Sciences, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran.; KaryoGen, Isfahan, Iran., Siu VM; Division of Medical Genetics, Department of Pediatrics, Schulich School of Medicine and Dentistry, Western University, London, ON, Canada., Ortigoza-Escobar JD; Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain., AlShamsi AM; Genetic Division, Pediatrics Department, Tawam Hospital, Al Ain, UAE., Ibrahim S; Department of pediatrics and child Health, Aga Khan University, Karachi, Pakistan., Al-Sannaa NA; Pediatric Services, John Hopkins Aramco Health Care, Dhahran, Saudi Arabia., Al-Hertani W; Harvard Medical School, Boston Children's Hospital, Department of Pediatrics, Division of Genetics and Genomics, Boston, MA, USA., Sandra W; APHP UF de Génétique Clinique, Centre de Référence des Anomalies du Développement et Syndromes Malformatifs, APHP, Hôpital Armand Trousseau, ERN ITHACA, Sorbonne Université, Paris, France., Tarnopolsky M; Department of Pediatrics (MT - Neuromuscular and Neurometabolics, CL - Medical Genetics), McMaster Children's Hospital, Hamilton, Ontario, Canada., Alavi S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Li C; Department of Pediatrics (MT - Neuromuscular and Neurometabolics, CL - Medical Genetics), McMaster Children's Hospital, Hamilton, Ontario, Canada., Day-Salvatore DL; The Department of Medical Genetics and Genomic Medicine at Saint Peter's University Hospital, New Brunswick, NJ, USA., Martínez-González MJ; Pediatric Neurology Unit, Cruces University Hospital, Barakaldo, Vizcaya, Spain., Levandoski KM; The Department of Medical Genetics and Genomic Medicine at Saint Peter's University Hospital, New Brunswick, NJ, USA., Bedoukian E; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Madan-Khetarpal S; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Idleburg MJ; Division of Genetic and Genomic Medicine, Department of Pediatrics, UPMC Children's Hospital of Pittsburgh, Pittsburgh, Pennsylvania, USA., Menezes MJ; Department of Anaesthesia, the Children's Hospital at Westmead, Sydney, NSW, Australia.; Discipline of Child and Adolescent Health, and Specialty of Genomic Medicine, Sydney Medical School, Sydney University, Sydney, NSW, Australia., Siddharth A; Harvard Medical School, Boston Children's Hospital, Department of Pediatrics, Division of Genetics and Genomics, Boston, MA, USA., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Smitka M; Department of Neuropediatrics, Medical Faculty Carl Gustav Carus, Technical University Dresden, Dresden, Germany., Collins F; Discipline of Child and Adolescent Health, and Specialty of Genomic Medicine, Sydney Medical School, Sydney University, Sydney, NSW, Australia.; Department of Clinical Genetics, Children's Hospital at Westmead, Sydney, NSW, Australia., Lek M; Department of Genetics, Yale School of Medicine, New Haven, Connecticut, USA., Shahrooei M; Medical Laboratory of Dr. Shahrooei, Tehran, Iran.; Department of Microbiology and Immunology, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium., Ghavideldarestani M; Medical Laboratory of Dr. Shahrooei, Tehran, Iran., Herman I; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Division of Pediatric Neuroscience, Boys Town National Research Hospital, Boys Town, NE, USA., Rendu J; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Grenoble, France., Faure J; Univ. Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, Grenoble Institut Neurosciences, Grenoble, France., Baker J; Division of Genetics and Genomic Medicine, Children's Hospital and Clinics of Minnesota, Minneapolis, Minnesota, USA., Bhambhani V; Division of Genetics and Genomic Medicine, Children's Hospital and Clinics of Minnesota, Minneapolis, Minnesota, USA., Calderwood L; Lucile Packard Children's Hospital Stanford, Palo Alto, CA, USA.; Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA., Akhondian J; Pediatric Neurology Department, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran., Imannezhad S; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Mirzadeh HS; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Hashemi N; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Doosti M; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Safi M; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Ahangari N; Innovative medical research centre, Mashhad branch, Islamic Azad University, Mashhad, Iran., Torbati PN; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran., Abedini S; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Salpietro V; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Gulec EY; Istanbul Medeniyet University Medical School, Department of Medical Genetics, Istanbul, Turkey., Eshaghian S; Isfahan Fertility and Infertility Center, Isfahan, Iran., Ghazavi M; Department of Pediatric Neurology, Imam Hossein Children's Hospital, Isfahan University of Medical Sciences, Isfahan, Iran., Pascher MT; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany., Vogel M; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany.; Deutsches Krebsforschungszentrum, Heidelberg, Germany., Abicht A; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany.; Medizinisch Genetisches Zentrum, Munich, German., Moutton S; Multidisciplinary Center for Prenatal Diagnosis, Pôle Mère Enfant, Maison de Santé Protestante Bordeaux Bagatelle, Talence, France., Bruel AL; Équipe Génétique des Anomalies du Développement (GAD), INSERM UMR1231, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic génomique des maladies rares, FHU-TRANSLAD, Dijon University Hospital, Dijon, France., Rieubland C; Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Switzerland., Gallati S; Division of Human Genetics, Department of Pediatrics, Inselspital, University of Bern, Switzerland., Strom TM; Institute of Human Genetics, Klinikum rechts der Isar, Technical University Munich, Munich, Germany., Lochmüller H; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada., Mohammadi MH; Department of pediatrics, Zabol University of medical sciences, Zabol, Iran., Alvi JR; Department of Pediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Pakistan., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA., Keena BA; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA., Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, University of Pennsylvania School of Medicine, Philadelphia, PA, USA., Berger SI; Children's National Research Institute, Washington DC, USA., Andrew EH; Children's National Research Institute, Washington DC, USA., Rahimian E; Haghighat Medical Imaging center-Tehran, Tehran, Iran., Morrow MM; GeneDx, Gaithersburg, MD, USA., Wentzensen IM; GeneDx, Gaithersburg, MD, USA., Millan F; GeneDx, Gaithersburg, MD, USA., Henderson LB; GeneDx, Gaithersburg, MD, USA., Dafsari HS; Department of Pediatrics, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Max-Planck-Institute for Biology of Ageing and CECAD, Cologne, Germany.; Department of Paediatric Neurology - Neuromuscular Service, Evelina London Children's Hospital, Guy's & St Thomas' Hospital NHS Foundation Trust, London, UK., Jungbluth H; Department of Paediatric Neurology - Neuromuscular Service, Evelina London Children's Hospital, Guy's & St Thomas' Hospital NHS Foundation Trust, London, UK.; Randall Centre for Cell and Molecular Biophysics, Muscle Signalling Section, Faculty of Life Sciences and Medicine (FoLSM), King's College London, London, UK., Gomez-Ospina N; Department of Pediatrics, Stanford University, Stanford, CA, USA., McRae A; Division of Genetics, Genomics, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, USA., Peter M; Division of Genetics, Genomics, and Metabolism, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, USA., Veltra D; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Marinakis NM; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Sofocleous C; Laboratory of Medical Genetics, Medical School, National and Kapodistrian University of Athens, St. Sophia's Children's Hospital, Athens, Greece., Ashrafzadeh F; Department of Pediatric Neurology, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran., Pehlivan D; Section of Pediatric Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Lemke JR; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Center for Rare Diseases, University of Leipzig Medical Center, Leipzig, Germany., Melki J; Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin Bicêtre, 94276, Paris, France., Benezit A; Neurologie et réanimation pédiatrique, Hôpital Raymond Poincaré, APHP, Garches, France., Bauer P; CENTOGENE GmbH, Am Strande 7, 18055 Rostock, Germany., Weis D; Department of Medical Genetics, Kepler University Hospital, Johann Kepler University, Linz, Austria., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Department of Pediatrics, Baylor College of Medicine, Houston, TX, USA., Senderek J; Friedrich-Baur-Institute at the Department of Neurology, University Hospital, LMU Munich, Munich, Germany., Christodoulou J; Discipline of Child and Adolescent Health, and Specialty of Genomic Medicine, Sydney Medical School, Sydney University, Sydney, NSW, Australia.; Murdoch Children's Research Institute, Melbourne and Department of Paediatrics, Melbourne Medical School, University of Melbourne, Melbourne, VIC, Australia., Chung WK; Department of Pediatrics and Medicine, Columbia University New York, NY, USA., Goodchild R; KU Leuven Department of Neurosciences, Leuven Brain Institute, Leuven, Belgium.; VIB-KU Leuven Center for Brain and Disease Research, Laboratory for Dystonia Research, Leuven, Belgium., Offiah AC; Department of Oncology & Metabolism, University of Sheffield, UK., Moreno-De-Luca A; Autism & Developmental Medicine Institute, Genomic Medicine Institute, Department of Radiology, Diagnostic Medicine Institute, Geisinger, Danville, PA, USA., Suri M; Clinical Genetics Service, Nottingham University Hospitals NHS Trust, Nottingham, UK., Ebrahimi-Fakhari D; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Movement Disorders Program, Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA, USA.; Intellectual and Developmental Disabilities Research Center, Boston Children's Hospital, Boston, MA, USA., Houlden H; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK., Maroofian R; Department of Neuromuscular Diseases, Queen Square Institute of Neurology, University College London, London, UK.
Publikováno v:
Brain : a journal of neurology [Brain] 2023 Aug 01; Vol. 146 (8), pp. 3273-3288.
Autor:
Izumi K; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Ganetzky RD; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Wertheim GBW; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Skraban CM; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Bedoukian EC; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Wilkens A; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Fincher C; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Thomas NH; Department of Child and Adolescent Psychiatry and Behavioral Sciences, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Psychiatry, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Ginsberg JP; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Divisions of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Rheingold SR; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Divisions of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Conlin LK; Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA., Deardorff MA; Divisions of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Departments of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.
Publikováno v:
Molecular syndromology [Mol Syndromol] 2023 Aug; Vol. 14 (4), pp. 303-309. Date of Electronic Publication: 2023 May 05.
Autor:
Katz OL; Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA; Division of Human Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA., Wild KT; Division of Human Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA; Division of Neonatology, The Children's Hospital of Philadelphia, Philadelphia, PA., McEldrew D; Division of Human Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA., Kaur M; Division of Human Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA., Raible S; Division of Human Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA., Skraban CM; Division of Human Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Zackai EH; Division of Human Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Medne L; Division of Human Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA., Izumi K; Division of Human Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Fortunato S; Division of Human Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA., Weatherly J; Division of Human Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA., Hartman T; Division of Human Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA., Deppen P; Division of Human Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA., Blair J; Division of Human Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA., Devkota B; Division of Human Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Biomedical and Health Informatics, The Children's Hospital of Philadelphia, Philadelphia, PA., Schindler E; Division of Human Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA., Hedrick HL; Center for Fetal Research, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Peranteau W; Center for Fetal Research, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA., Krantz ID; Division of Human Genetics, Roberts Individualized Medical Genetics Center, The Children's Hospital of Philadelphia, Philadelphia, PA; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. Electronic address: krantz@chop.edu.
Publikováno v:
The Journal of pediatrics [J Pediatr] 2022 Jul; Vol. 246, pp. 251-265.e2. Date of Electronic Publication: 2022 Mar 18.
Autor:
Murrell JR; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Nesbitt AMI; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Baker SW; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Pechter KB; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Balciuniene J; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Zhao X; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Denenberg EH; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., DeChene ET; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Wu C; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Jayaraman P; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Cao K; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Gonzalez M; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Devoto M; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Department of Translational and Precision Medicine, University of Rome Sapienza, Rome, Italy., Testori A; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Dipartimento di Medicina Molecolare e Biotecnologie Mediche, Università degli Studi di Napoli Federico II, Naples, Italy., Monos JD; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Dulik MC; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Conlin LK; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Luo M; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., McDonald Gibson K; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Guan Q; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Sarmady M; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Bhoj E; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Zackai EH; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Bedoukian EC; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Wilkens A; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Tarpinian J; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Izumi K; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Skraban CM; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Deardorff MA; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Medne L; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Krantz ID; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania; Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania., Krock BL; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Santani AB; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania. Electronic address: asantani@veritasgenetics.com.
Publikováno v:
The Journal of molecular diagnostics : JMD [J Mol Diagn] 2022 Mar; Vol. 24 (3), pp. 274-286. Date of Electronic Publication: 2022 Jan 19.
Autor:
Wade EM; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Jenkins ZA; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Morgan T; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Gimenez G; Department of Pathology, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Gibson H; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Peng H; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand., Sanchez Russo R; Department of Human Genetics, Emory University, Atlanta, Georgia, USA., Skraban CM; Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.; The Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Bedoukian E; The Roberts Individualized Medical Genetics Center, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA., Robertson SP; Department of Women's and Children's Health, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2021 Dec; Vol. 185 (12), pp. 3675-3682. Date of Electronic Publication: 2021 Jul 17.