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Clinical case report: mosaic ANK3 pathogenic variant in a patient with autism spectrum disorder and neurodevelopmental delay.

Autor: Fang X; Greenwood Genetic Center, Greenwood, South Carolina 29646, USA., Fee T; Greenwood Genetic Center, Greenwood, South Carolina 29646, USA., Davis J; Greenwood Genetic Center, Greenwood, South Carolina 29646, USA., Stolerman ES; Greenwood Genetic Center, Greenwood, South Carolina 29646, USA., Caylor RC; Greenwood Genetic Center, Greenwood, South Carolina 29646, USA rcaylor@ggc.org.

Publikováno v: Cold Spring Harbor molecular case studies [Cold Spring Harb Mol Case Stud] 2023 Jul 11; Vol. 9 (3). Date of Electronic Publication: 2023 Jul 11 (Print Publication: 2023).

De novo missense variants in the E3 ubiquitin ligase adaptor KLHL20 cause a developmental disorder with intellectual disability, epilepsy, and autism spectrum disorder.

Autor: Sleyp Y; Department of Human Genetics, KU Leuven, Leuven, Belgium., Valenzuela I; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain., Accogli A; Medical Genetics Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy., Ballon K; Centre for Developmental Disabilities, University Hospitals Leuven, Leuven, Belgium., Ben-Zeev B; Pediatric Neurology Institute, The Edmond & Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Tel-Hashomer, Israel; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Berkovic SF; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia., Broly M; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Nantes, Nantes, France; Medigenome, Swiss Institute of Genomic Medicine, Geneva, Switzerland., Callaerts P; Department of Human Genetics, KU Leuven, Leuven, Belgium., Caylor RC; Greenwood Genetic Center, Greenwood, SC., Charles P; Salpêtrière Hospital Genetic Department and Reference Center for Rare Intellectual Disabilities, APHP, Paris, France., Chatron N; Department of Medical Genetics, Hospices Civils de Lyon and NeuroMyogene Institute, CNRS UMR 5310 - INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Cohen L; Genetic Institute, Barzilai University Medical Center, Ashkelon, Israel; Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheba, Israel., Coppola A; Department of Neuroscience and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy., Cordeiro D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada., Cuccurullo C; Department of Neuroscience and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy., Cuscó I; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain., Janette diMonda; Department of Human Genetics, Emory Clinic, Emory Healthcare, Atlanta, GA., Duran-Romaña R; Switch Laboratory, VIB-KU Leuven Center for Brain & Disease Research, Leuven, Belgium; Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium., Ekhilevitch N; Genetics Institute, Rambam Health Care Campus, Haifa, Israel., Fernández-Alvarez P; Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital and Medicine Genetics Group, Vall d'Hebron Research Institute, Barcelona, Spain., Gordon CT; Laboratory of Embryology and Genetics of Human Malformations, Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Imagine, Université de Paris, Paris, France., Isidor B; Service de Génétique Médicale, Centre Hospitalier Universitaire (CHU) de Nantes, Nantes, France., Keren B; Département de Génétique, AP-HP.Sorbonne Université, Hôpital Pitié-Salpêtrière, Paris, France., Lesca G; Department of Medical Genetics, Hospices Civils de Lyon and NeuroMyogene Institute, CNRS UMR 5310 - INSERM U1217, Université Claude Bernard Lyon 1, Lyon, France., Maljaars J; Parenting and Special Education Research Unit, KU Leuven, Leuven, Belgium., Mercimek-Andrews S; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, Alberta, Canada., Morrow MM; GeneDx, Inc, Gaithersburg, MD., Muir AM; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA., Rousseau F; Switch Laboratory, VIB-KU Leuven Center for Brain & Disease Research, Leuven, Belgium; Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium., Salpietro V; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, Genoa, Italy., Scheffer IE; Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria, Australia; Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Victoria, Australia; Florey and Murdoch Children's Research Institutes, Melbourne, Victoria, Australia., Schnur RE; GeneDx, Inc, Gaithersburg, MD., Schymkowitz J; Switch Laboratory, VIB-KU Leuven Center for Brain & Disease Research, Leuven, Belgium; Department of Cellular and Molecular Medicine, KU Leuven, Leuven, Belgium., Souche E; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium., Steyaert J; Center for Developmental Psychiatry, KU Leuven, Leuven, Belgium., Stolerman ES; Greenwood Genetic Center, Greenwood, SC., Vengoechea J; Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA., Ville D; Pediatric Neurology Department, Lyon University Hospital, Lyon, France., Washington C; Greenwood Genetic Center, Greenwood, SC., Weiss K; Genetics Institute, Rambam Health Care Campus, Haifa, Israel; The Ruth and Bruce Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa, Israel., Zaid R; Genetics Institute, Rambam Health Care Campus, Haifa, Israel., Sadleir LG; Department of Paediatrics and Child Health, University of Otago, Wellington, New Zealand., Mefford HC; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA; Center for Pediatric Neurological Disease Research, St. Jude Children's Research Hospital, Memphis, TN., Peeters H; Department of Human Genetics, KU Leuven, Leuven, Belgium; Center for Human Genetics, University Hospitals Leuven, Leuven, Belgium. Electronic address: hilde.peeters@uzleuven.be.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Dec; Vol. 24 (12), pp. 2464-2474. Date of Electronic Publication: 2022 Oct 11.

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder.

Autor: Kour S; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Rajan DS; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Fortuna TR; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Anderson EN; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Ward C; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA., Lee Y; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea., Lee S; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea., Shin YB; Department of Rehabilitative Medicine, Pusan National University School of Medicine, Pusan, Republic of Korea., Chae JH; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea., Choi M; Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Republic of Korea.; Department of Pediatrics, Seoul National University College of Medicine, Seoul, Republic of Korea., Siquier K; Developmental Brain Disorders Laboratory, Paris University, Imagine Institute, INSERM UMR, Paris, France., Cantagrel V; Developmental Brain Disorders Laboratory, Paris University, Imagine Institute, INSERM UMR, Paris, France., Amiel J; Department of Genetics, AP-HP, Necker Enfants Malades Hospital, Paris University, Imagine Institute, Paris, France., Stolerman ES; Greenwood Genetic Center, Greenwood, SC, USA., Barnett SS; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN, USA., Cousin MA; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA., Castro D; Department of Pediatrics and Neurology, University of Texas Southwestern Medical Center, Dallas, TX, USA., McDonald K; University of Mississippi Medical Center, Jackson, MS, USA., Kirmse B; Division of Genetics, University of Mississippi Medical Center, Jackson, MS, USA., Nemeth AH; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.; Oxford Centre for Genomic Medicine, Oxford University Hospitals National Health Service Foundation Trust, Oxford, UK., Rajasundaram D; Department of Pediatrics, Division of Health Informatics, Childrens Hospital of Pittsburgh, Pittsburgh, PA, USA., Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada., Lynch D; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Canada., Frosk P; Department of Biochemistry and Medical Genetics, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, MB, Canada., Collins A; Department of Pediatrics and Neurology, Children's Hospital of Colorado, University of Colorado School of Medicine, Aurora, CO, USA., Gibbons M; Department of Pediatrics and Neurology, Children's Hospital of Colorado, University of Colorado School of Medicine, Aurora, CO, USA., Yang M; Department of Pediatrics and Neurology, Children's Hospital of Colorado, University of Colorado School of Medicine, Aurora, CO, USA., Desguerre I; Department of Pediatric Neurology, AP-HP, Necker Enfants Malades Hospital, Paris University Imagine Institute, Paris, France., Boddaert N; Department of Pediatric Radiology, AP-HP, Necker Enfants Malades Hospital, Paris University Imagine Institute, Paris, France., Gitiaux C; Department of Pediatric Neurophysiology AP-HP, Necker Enfants Malades Hospital, Paris University, Paris, France., Rydning SL; Department of Neurology, Oslo University Hospital, Oslo, Norway., Selmer KK; Department of Research and Development, Division of Neuroscience, Oslo University Hospital and the University of Oslo, Oslo, Norway., Urreizti R; Department of Clinical Biochemistry, Institut de Recerca Sant Joan de Déu and CIBERER, Barcelona, Spain., Garcia-Oguiza A; Hospital Universitario Miguel Servet, Zaragoza, Spain., Osorio AN; Hospital Sant Joan de Déu, Barcelona, Spain., Verdura E; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain., Pujol A; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Catalan Institution for Research and Advanced Studies (ICREA), Barcelona, Spain., McCurry HR; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Landers JE; Department of Neurology, University of Massachusetts Medical School, Worcester, MA, USA., Agnihotri S; Department of Neurological Surgery, University of Pittsburgh School of Medicine, Pittsburgh, PA, USA., Andriescu EC; Department of Pediatrics, University of Texas Health Science Center, Houston, TX, USA., Moody SB; Department of Pediatrics, University of Texas Health Science Center, Houston, TX, USA., Phornphutkul C; Department of Pediatrics, Division of Human Genetics, Rhode Island Hospital and Warren Alpert Medical School of Brown University, Providence, RI, USA., Sacoto MJG; GeneDx, Gaithersburg, MD, USA., Begtrup A; GeneDx, Gaithersburg, MD, USA., Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Kirschner J; Department of Neuropediatrics and Muscle Disorders, Medical Center,, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Schorling D; Department of Neuropediatrics and Muscle Disorders, Medical Center,, Faculty of Medicine, University of Freiburg, Freiburg, Germany., Rudnik-Schöneborn S; Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria., Strom TM; Institute of Human Genetics, Faculty of Medicine, Technical University Munich, Munich, Germany., Leiz S; Clinic for Children and Adolescents Dritter Orden, Divison of Neuropediatrics, Munchen, Germany., Juliette K; Department of Neurology, Gillette Children's Specialty Healthcare, St Paul, MN, USA., Richardson R; Department of Neurology, Gillette Children's Specialty Healthcare, St Paul, MN, USA., Yang Y; Department of Pediatrics, Peking University First Hospital, Beijing, China., Zhang Y; Department of Pediatrics, Peking University First Hospital, Beijing, China., Wang M; The First People's Hospital of Changde City, Hunan, China., Wang J; Cipher Gene Ltd, Beijing, China., Wang X; Cipher Gene Ltd, Beijing, China., Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA., Wagner M; Institute of Human Genetics, Klinikum rechts der IsarTechnical, University of Munich, Munich, Germany., Issa MY; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Elbendary HM; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Stanley V; Departments of Neurosciences and Pediatrics, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, USA., Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK., Gleeson JG; Departments of Neurosciences and Pediatrics, Rady Children's Institute for Genomic Medicine, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, CA, USA., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt., Senderek J; Department of Neurology, Friedrich-Baur-Institute, University Hospital, LMU Munich, Munich, Germany., Pandey UB; Department of Pediatrics, Childrens Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA. udai@pitt.edu.; Department of Human Genetics, Graduate School of Public Health, University of Pittsburgh, Pittsburgh, PA, USA. udai@pitt.edu.; Children's Neuroscience Institute, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA. udai@pitt.edu.

Publikováno v: Nature communications [Nat Commun] 2021 May 07; Vol. 12 (1), pp. 2558. Date of Electronic Publication: 2021 May 07.

CHD8 intragenic deletion associated with autism spectrum disorder.

Autor: Stolerman ES; Greenwood Genetic Center, Greenwood, SC, 29646, USA. Electronic address: estolerman@ggc.org., Smith B; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Chaubey A; Greenwood Genetic Center, Greenwood, SC, 29646, USA., Jones JR; Greenwood Genetic Center, Greenwood, SC, 29646, USA.

Publikováno v: European journal of medical genetics [Eur J Med Genet] 2016 Apr; Vol. 59 (4), pp. 189-94. Date of Electronic Publication: 2016 Feb 26.