Whole genomic approach in mutation discovery of infantile spasms patients

Autor: Seungbok Lee, Sesong Jang, Jong-Il Kim, Jong Hee Chae, Ki Joong Kim, Byung Chan Lim

Publikováno v: Frontiers in Neurology, Vol 13 (2022)

Infantile spasms (IS) are a clinically and genetically heterogeneous group of epilepsy disorders in early infancy. The genetic backgrounds of IS have been gradually unraveled along with the increased application of next-generation sequencing (NGS). H

Externí odkaz: https://doaj.org/article/2b14e0fc4972457c9312c72f47f7c160

Additional file 1: Table S1. of Genetic association of APOA5 and APOE with metabolic syndrome and their interaction with health-related behavior in Korean men

Autor: Son, Ki Young, Son, Ho-Young, Jeesoo Chae, Jinha Hwang, SeSong Jang, Yun, Jae Moon, BeLong Cho, Park, Jin, Jong-Il Kim

The list of selected SNPs. Table S2. The logistic regression results for MetS and its components (Model 1). Table S3. The logistic regression results for MetS and its components (Model 2). Table S4. The linear regression results of significant SNPs f

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::465e07e42cc9c3b5e140986cdc954eb9

Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.

Autor: Herbst C; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Bothe V; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Wegler M; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Axer-Schaefer S; Department of Epileptology, Krankenhaus Mara Bethel Epilepsy Center Medical School OWL, Bielefeld University, Campus Bethel, Bielefeld, Germany., Audebert-Bellanger S; Department of Genetics, CHU Brest, 29000, Brest, France., Gecz J; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia., Cogne B; Service de Génétique Médicale, CHU Nantes, 44000, Nantes, France.; l'institut du Thorax, Nantes Université, CHU Nantes, CNRS, INSERM, 44000, Nantes, France., Feldman HB; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.; Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel., Horn AHC; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.; Erlangen National High Performance Computing Center, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Hurst ACE; Department of Genetics, University of Alabama at Birmingham, Birmingham, AL, USA., Kelly MA; HudsonAlpha Clinical Services Lab, HudsonAlpha Institute for Biotechnology, Huntsville, AL, USA., Kruer MC; Barrow Neurological Institute, Phoenix Children's Hospital University of Arizona College of Medicine, Phoenix, USA., Kurolap A; The Genetics Institute and Genomics Center, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel., Laquerriere A; Department of Anatomy, Inserm U1245 and CHU Rouen, Univ Rouen Normandie, 76000, Rouen, France., Li M; Invitae Corp, San Francisco, CA, USA., Mark PR; Division of Medical Genetics, Helen DeVos Children's Hospital, Corewell Health, Grand Rapids, MI, USA., Morawski M; Center of Neuropathology and Brain Research, Medical Faculty, Paul Flechsig Institute, University of Leipzig, Leipzig, Germany., Nizon M; Service de Génétique Médicale, CHU Nantes, 44000, Nantes, France.; l'institut du Thorax, Nantes Université, CHU Nantes, CNRS, INSERM, 44000, Nantes, France., Pastinen T; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, USA.; University of Missouri Kansas City School of Medicine, Kansas City, USA., Polster T; Department of Epileptology, Krankenhaus Mara Bethel Epilepsy Center Medical School OWL, Bielefeld University, Campus Bethel, Bielefeld, Germany., Saugier-Veber P; Department of Genetics and Reference Center for Developmental Disorders, Inserm U1245 and CHU Rouen, Univ Rouen Normandie, 76000, Rouen, France., SeSong J; Genomic Medicine Institute, Seoul National University, Seoul, Republic of Korea., Sticht H; Institute of Biochemistry, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany., Stieler JT; Center of Neuropathology and Brain Research, Medical Faculty, Paul Flechsig Institute, University of Leipzig, Leipzig, Germany., Thifffault I; Genomic Medicine Center, Children's Mercy Hospital, Kansas City, USA.; University of Missouri Kansas City School of Medicine, Kansas City, USA., van Eyk CL; Adelaide Medical School and Robinson Research Institute, The University of Adelaide, Adelaide, SA, Australia., Marcorelles P; Department of Anatomy, CHU Brest, 29000, Brest, France., Vezain-Mouchard M; Department of Genetics and Reference Center for Developmental Disorders, Inserm U1245 and CHU Rouen, Univ Rouen Normandie, 76000, Rouen, France., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany., Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, 04103, Leipzig, Germany. henry.oppermann@medizin.uni-leipzig.de.

Publikováno v: Human genetics [Hum Genet] 2024 Mar; Vol. 143 (3), pp. 455-469. Date of Electronic Publication: 2024 Mar 25.