Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts

Autor: Sa, Schrier, Lj, Wong, Place E, Jq, Ji, Ea, Pierce, Golden J, Santi M, Anninger W, Marni Falk

Publikováno v: Europe PubMed Central

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6f29797e7d36d02bc41ed6e89214d33e
http://europepmc.org/abstract/med/22369973

ARID1B -related disorder in 87 adults: Natural history and self-sustainability.

Autor: van der Sluijs PJ; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Gösgens M; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands., Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Striano P; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genova, Italy.; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy., Riva A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova, Genova, Italy.; IRCCS Istituto Giannina Gaslini, Genova, Italy., Mignot C; Service de génétique médicale, APHP Pitié-Salpêtrière, Paris, France., Faudet A; Département de Génétique, Assistance publique - Hôpitaux de Paris Sorbonne Université, Hôpital Pitié-Salpêtrière et Trousseau, Paris, France., Vasileiou G; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany., Walther M; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany., Schrier Vergano SA; Children's Hospital of The King's Daughters, Norfolk, VA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA., Alders M; Section Clinical Genetics, Department of Human Genetics, Amsterdam University Medical Centers, Amsterdam, the Netherlands., Alkuraya FS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Alorainy I; Department of Radiology and Diagnostic Imaging, King Khalid University Hospital and College of Medicine, King Saud University, Riyadh, Saudi Arabia., Alsaif HS; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; Centre of Excellence for Biomedicine, Joint Centers of Excellence Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia., Anderlid B; Clinical Genetics Karolinska Universitet Hospital and Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Bache I; Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark., van Beek I; Section Clinical Genetics, Department of Human Genetics, Amsterdam University Medical Centers, Amsterdam, the Netherlands., Blanluet M; Service de Génétique Oncologique, Institut Curie, Paris, France., van Bon BW; Department of Human Genetics, Radboud University Medical Center, Nijmegen, the Netherlands., Brunet T; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany.; Department of Pediatric Neurology and Developmental Medicine and LMU Center for Children with Medical Complexity, Dr. von Hauner Children's Hospital, LMU Hospital, Ludwig-Maximilians-University, D-80337 Munich, Germany., Brunner H; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Carriero ML; Medical Genetics, University of Siena, Siena, Italy., Charles P; Service de génétique médicale, APHP Pitié-Salpêtrière, Paris, France., Chatron N; Service de génétique, Hospices Civils de Lyon ERN ITHACA, INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Université Claude Bernard Lyon 1, Bron, France.; Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France., Coccia E; Department of Medical and Surgical Science, Postgraduate School of Medical Genetics, Alma Mater Studiorum University of Bologna, Bologna, Italy., Dubourg C; Service de Génétique Moléculaire et Génomique Médicale, CHU de Rennes, Rennes, France.; Univ Rennes, CNRS, INSERM, IGDR (Institut de génétique et développement de Rennes) - UMR 6290, ERL U1305, RENNES, France., Earl RK; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA.; Howard Hughes Medical Institute, University of Washington, School of Medicine, Seattle, WA., Faivre L; Centre de Référence Anomalies du Développement et Syndromes Malformatifs, FHU TRANSLAD, CHU Dijon, Dijon, France.; Genetics of Developmental Disorders, INSERM - Bourgogne Franche-Comté University, UMR 1231 GAD Team, Dijon, France., Foulds N; Wessex Clinical Genetics Service, University Hospital Southampton, Princess Anne Hospital, Southampton, United Kingdom., Graziano C; Medical Genetics Unit, AUSL Romagna, Cesena, Italy., Guerrot AM; Department of Genetics and reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France., Hashem MO; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Heide S; Département de Génétique, Assistance publique - Hôpitaux de Paris Sorbonne Université, Hôpital Pitié-Salpêtrière et Trousseau, Paris, France., Heron D; Département de Génétique, Assistance publique - Hôpitaux de Paris Sorbonne Université, Hôpital Pitié-Salpêtrière et Trousseau, Paris, France., Hickey SE; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH., Hopman SMJ; Department of Genetics, University Medical Center Utrecht, Utrecht, the Netherlands., Kattentidt-Mouravieva A; Stichting Zuidwester, Middelharnis, the Netherlands., Kerkhof J; Verspeeten Clinical Genome Centre, London Health Sciences Centre, London, ON, Canada., Klein Wassink-Ruiter JS; Department of Genetics, University of Groningen, University Medical Center Groningen, the Netherlands., Kurtz-Nelson EC; Department of Psychiatry and Behavioral Sciences, University of Washington, Seattle, WA.; Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN., Kušíková K; Department of Pediatric Neurology, Faculty of Medicine, Comenius University and National Institute of Children's Diseases, Bratislava, Slovakia., Kvarnung M; Clinical Genetics Karolinska Universitet Hospital and Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden., Lecoquierre F; Department of Genetics and reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France., Leszinski GS; Institute of Human Genetics, Klinikum rechts der Isar, School of Medicine, Technical University of Munich, Munich, Germany., Loberti L; Medical Genetics, University of Siena, Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Centre, University of Siena, Siena, Italy., Magoulas PL; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX., Mari F; Medical Genetics, University of Siena, Siena, Italy., Maystadt I; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium., Merla G; Department of Molecular Medicine & Medical Biotechnology, University of Naples Federico II, Naples, Italy.; Laboratory of Regulatory & Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy., Milunsky JM; Center for Human Genetics Inc, Cambridge, MA., Moortgat S; Centre de Génétique Humaine, Institut de Pathologie et de Génétique, Gosselies, Belgium., Nicolas G; Department of Genetics and reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France., Leary MO'; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA., Odent S; Univ Rennes, CNRS, INSERM, IGDR (Institut de génétique et développement de Rennes) - UMR 6290, ERL U1305, RENNES, France.; Centre de Référence Maladies Rares CLAD-Ouest, ERN-ITHACA, FHU GenOMedS, CHU de Rennes, RENNES, France., Ozmore JR; Medical Genetics, Dartmouth Hitchcock Medical Center, Lebanon, NH., Parbhoo K; Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, OH.; The Steve and Cindy Rasmussen Institute for Genomic Medicine at Nationwide Children's Hospital, Columbus, OH., Pfundt R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Piccione M; Medical Genetics Unit, AOOR Villa Sofia-Cervello Hospitals, Palermo, Italy.; Department of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties, University of Palermo, Palermo, Italy., Pinto AM; Medical Genetics, University of Siena, Siena, Italy., Popp B; Berlin Institute of Health at Charitè, Universitätsklinikum Berlin, Centre of Functional Genomics, Berlin, Germany., Putoux A; Service de génétique, Hospices Civils de Lyon ERN ITHACA, INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Université Claude Bernard Lyon 1, Bron, France., Rehm HL; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA., Reis A; Institute of Human Genetics, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, 91054 Erlangen, Germany.; Centre for Rare Diseases Erlangen (ZSEER), Erlangen, Germany., Renieri A; Medical Genetics, University of Siena, Siena, Italy.; Department of Medical Biotechnologies, Med Biotech Hub and Competence Centre, University of Siena, Siena, Italy., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.; Baylor Genetics Laboratories, Houston, TX., Rossi M; Service de génétique, Hospices Civils de Lyon ERN ITHACA, INSERM U1028, CNRS UMR5292, Centre de Recherche en Neurosciences de Lyon, GENDEV Team, Université Claude Bernard Lyon 1, Bron, France., Salzano E; Medical Genetics Unit, AOOR Villa Sofia-Cervello Hospitals, Palermo, Italy., Saugier-Veber P; Department of Genetics and reference Center for Developmental Disorders, Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Rouen, France., Seri M; Department of Medical and Surgical Science, Postgraduate School of Medical Genetics, Alma Mater Studiorum University of Bologna, Bologna, Italy., Severi G; Department of Medical and Surgical Science, Postgraduate School of Medical Genetics, Alma Mater Studiorum University of Bologna, Bologna, Italy., Sonmez FM; Department of Child Neurology, Karadeniz Technical University Faculty of Medicine, Retired Lecturer, Trabzon, Turkey., Strobl-Wildemann G; MVZ Humangenetik Ulm, Ulm, Germany., Stuurman KE; Department of Clinical Genetics, Erasmus MC, University Medical Center Rotterdam, Rotterdam, the Netherlands., Uctepe E; Acıbadem Labmed Ankara Tissue Typing Laboratory, Ankara, Turkey., Van Esch H; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Vitetta G; Department of Medical and Surgical Science, Postgraduate School of Medical Genetics, Alma Mater Studiorum University of Bologna, Bologna, Italy., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands., Wahl D; Department of Clinical Genetics, MVZ Martinsried, Munich, Germany., Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA.; Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University, Beijing, China.; Neuroscience Research Institute, Peking University Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing, China.; Autism Research Center, Peking University Health Science Center, Beijing, China., Zacher P; Epilepsy Center Kleinwachau, Radeberg, Germany., Heitink KR; Department of Rehabilitation Medicine, Leiden University Medical Center, Leiden, the Netherlands., Ropers FG; Willem-Alexander Children's Hospital, department of Pediatrics, Leiden University Medical Center, the Netherlands., Steenbeek D; Department of Rehabilitation Medicine, Maastricht University Medical Center / Adelante Rehabilitation, Maastricht, The Netherlands., Rybak T; 's Heeren Loo Noordwijk, Noordwijk, the Netherlands., Santen GWE; Department of Clinical Genetics, Leiden University Medical Center, Leiden, the Netherlands.

Publikováno v: Genetics in medicine open [Genet Med Open] 2024 Jul 23; Vol. 2, pp. 101873. Date of Electronic Publication: 2024 Jul 23 (Print Publication: 2024).

Coffin-Siris syndrome and cancer susceptibility.

Autor: Borja NA; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL., Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of the King's Daughters, Norfolk, VA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, VA., Tekin M; Dr. John T. Macdonald Foundation Department of Human Genetics, Miller School of Medicine, University of Miami, Miami, FL.; John P. Hussmann Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL.

Publikováno v: Genetics in medicine open [Genet Med Open] 2023 May 16; Vol. 1 (1), pp. 100818. Date of Electronic Publication: 2023 May 16 (Print Publication: 2023).

Rare Cause of Arrhythmia and Seizures in a Late-Preterm Newborn.

Autor: Tiwari P; Eastern Virginia Medical School, Norfolk, VA.; Children's Hospital of the King's Daughters, Norfolk, VA., Dwyer K; Eastern Virginia Medical School, Norfolk, VA.; Children's Hospital of the King's Daughters, Norfolk, VA., Siegfried B; Eastern Virginia Medical School, Norfolk, VA.; Children's Hospital of the King's Daughters, Norfolk, VA.; Children's Specialty Group, Children's Hospital of the King's Daughters, Norfolk, VA.; Neonatal-Perinatal Medicine, Children's Hospital of the King's Daughters, Norfolk, VA., Schrier Vergano SA; Eastern Virginia Medical School, Norfolk, VA.; Children's Hospital of the King's Daughters, Norfolk, VA.; Children's Specialty Group, Children's Hospital of the King's Daughters, Norfolk, VA.

Publikováno v: NeoReviews [Neoreviews] 2022 Oct 01; Vol. 23 (10), pp. e696-e698.

Heterozygous variants in PRPF8 are associated with neurodevelopmental disorders.

Autor: O'Grady L; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.; MGH Institute of Health Professions, Charlestown, Massachusetts, USA., Schrier Vergano SA; Division of Medical Genetics and Metabolism, Children's Hospital of The King's Daughter, Norfolk, Virginia, USA.; Department of Pediatrics, Eastern Virginia Medical School, Norfolk, Virginia, USA., Hoffman TL; Department of Genetics, Southern California Kaiser Permanente Medical Group, Anaheim, California, USA., Sarco D; Department of Neurology, Kaiser Permanente-Los Angeles Medical Center, Los Angeles, California, USA., Cherny S; Division of Cardiology, Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois, USA., Bryant E; Division of Neurology, Ann & Robert H. Lurie Children's Hospital, Chicago, Illinois, USA., Schultz-Rogers L; Department of Pathology and Laboratory Medicine, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA., Chung WK; Department of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, New York, USA., Sacharow S; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA., Immken LL; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA., Holder S; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA., Blackwell RR; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA., Buchanan C; Department of Clinical & Metabolic Genetics, Dell Children's Medical Group, Austin, Texas, USA., Yusupov R; Division of Pediatric Genetics, Joe DiMaggio Children's Hospital, Hollywood, Florida, USA., Lecoquierre F; Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, Normandie University, UNIROUEN, Inserm U1245, CHU Rouen, Rouen, France., Guerrot AM; Department of Genetics and Reference Center for Developmental Disorders, FHU G4 Génomique, Normandie University, UNIROUEN, Inserm U1245, CHU Rouen, Rouen, France., Rodan L; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Harvard Medical School, Boston, Massachusetts, USA., de Vries BBA; Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands., Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center and Donders Institute for Brain, Cognition and Behavior, Nijmegen, The Netherlands., Santos Simarro F; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain., Palomares-Bralo M; Institute of Medical and Molecular Genetics (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain., Brown N; Department of Paediatrics, The University of Melbourne, Parkville, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville, Victoria, Australia., Pais L; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, Massachusetts, USA., Ferrer A; Center for Individualized Medicine, Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA., Klee EW; Center for Individualized Medicine, Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA., Babovic-Vuksanovic D; Center for Individualized Medicine, Quantitative Health Sciences, Mayo Clinic, Rochester, Minnesota, USA., Rhodes L; GeneDx, Inc., Gaithersburg, Maryland, USA., Person R; GeneDx, Inc., Gaithersburg, Maryland, USA., Begtrup A; GeneDx, Inc., Gaithersburg, Maryland, USA., Keller-Ramey J; GeneDx, Inc., Gaithersburg, Maryland, USA., Santiago-Sim T; GeneDx, Inc., Gaithersburg, Maryland, USA., Schnur RE; GeneDx, Inc., Gaithersburg, Maryland, USA., Sweetser DA; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, Massachusetts, USA., Gold NB; Division of Medical Genetics and Metabolism, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Sep; Vol. 188 (9), pp. 2750-2759. Date of Electronic Publication: 2022 May 11.