Expanding the phenotype of copy number variations involving NR0B1 (DAX1).

Autor: Veyt N; Center for Human Genetics, University Hospitals Leuven-KU Leuven, Leuven, Belgium. nathalie.veyt@uzleuven.be., Van Buggenhout G; Center for Human Genetics, University Hospitals Leuven-KU Leuven, Leuven, Belgium., Devriendt K; Center for Human Genetics, University Hospitals Leuven-KU Leuven, Leuven, Belgium., Van Den Bogaert K; Center for Human Genetics, University Hospitals Leuven-KU Leuven, Leuven, Belgium., Brison N; Center for Human Genetics, University Hospitals Leuven-KU Leuven, Leuven, Belgium.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Apr; Vol. 32 (4), pp. 421-425. Date of Electronic Publication: 2024 Jan 10.

Recent developments in Phelan-McDermid syndrome research: an update on cognitive development, communication and psychiatric disorders.

Autor: Vogels A; Center for Human Genetics, University Hospital Gasthuisberg.; Department of Human Genetics., Droogmans G; Research Unit for Parenting and Special Education., Vergaelen E; University Psychiatric Center, Mind Body Research Group, KU Leuven (University of Leuven), Leuven, Belgium., Van Buggenhout G; Center for Human Genetics, University Hospital Gasthuisberg.; Department of Human Genetics., Swillen A; Center for Human Genetics, University Hospital Gasthuisberg.; Department of Human Genetics.

Publikováno v: Current opinion in psychiatry [Curr Opin Psychiatry] 2021 Mar 01; Vol. 34 (2), pp. 118-122.

Rare autosomal trisomies detected by non-invasive prenatal testing: an overview of current knowledge.

Autor: Lannoo L; Department of Obstetrics and Gynaecology, Division Woman and Child, University Hospitals Leuven, Leuven, Belgium., van Straaten K; Faculty of Medicine, KU Leuven, Leuven, Belgium., Breckpot J; Department of Human Genetics, University Hospitals Leuven, Leuven, Belgium., Brison N; Department of Human Genetics, University Hospitals Leuven, Leuven, Belgium., De Catte L; Department of Obstetrics and Gynaecology, Division Woman and Child, University Hospitals Leuven, Leuven, Belgium., Dimitriadou E; Department of Human Genetics, University Hospitals Leuven, Leuven, Belgium., Legius E; Department of Human Genetics, University Hospitals Leuven, Leuven, Belgium., Peeters H; Department of Human Genetics, University Hospitals Leuven, Leuven, Belgium., Parijs I; Department of Human Genetics, University Hospitals Leuven, Leuven, Belgium., Tsuiko O; Department of Human Genetics, University Hospitals Leuven, Leuven, Belgium., Vancoillie L; Department of Human Genetics, University Hospitals Leuven, Leuven, Belgium., Vermeesch JR; Department of Human Genetics, University Hospitals Leuven, Leuven, Belgium., Van Buggenhout G; Department of Human Genetics, University Hospitals Leuven, Leuven, Belgium., Van Den Bogaert K; Department of Human Genetics, University Hospitals Leuven, Leuven, Belgium., Van Calsteren K; Department of Obstetrics and Gynaecology, Division Woman and Child, University Hospitals Leuven, Leuven, Belgium., Devriendt K; Department of Human Genetics, University Hospitals Leuven, Leuven, Belgium. koenraad.devriendt@uzleuven.be.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2022 Dec; Vol. 30 (12), pp. 1323-1330. Date of Electronic Publication: 2022 Jul 27.

Human OTULIN haploinsufficiency impairs cell-intrinsic immunity to staphylococcal α-toxin.

Autor: Spaan AN; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Department of Medical Microbiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands., Neehus AL; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France.; Institute of Experimental Hematology, REBIRTH Research Center for Translational and Regenerative Medicine, Hannover Medical School, 30625 Hannover, Germany., Laplantine E; Centre d'Immunologie et des Maladies Infectieuses, INSERM U1135, CNRS ERL8255, Sorbonne University, 75724 Paris, France.; Institut de Recherche St. Louis, Hôpital St. Louis, INSERM U944, CNRS U7212, Paris Cité University, 75010 Paris, France., Staels F; Laboratory for Adaptive Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium., Ogishi M; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA., Seeleuthner Y; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France., Rapaport F; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA., Lacey KA; Department of Microbiology, New York University Grossman School of Medicine, New York, NY 10016, USA., Van Nieuwenhove E; Laboratory for Adaptive Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.; Department of Pediatric Rheumatology and Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands., Chrabieh M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France., Hum D; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA., Migaud M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France., Izmiryan A; Imagine Institute, Paris Cité University, 75015 Paris, France.; Laboratory of Genetic Skin Diseases, INSERM U1163, 75015 Paris, France., Lorenzo L; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France., Kochetkov T; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA., Heesterbeek DAC; Department of Medical Microbiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands., Bardoel BW; Department of Medical Microbiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands., DuMont AL; Department of Microbiology, New York University Grossman School of Medicine, New York, NY 10016, USA., Dobbs K; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD 20852, USA., Chardonnet S; Plateforme Post-génomique de la Pitié-Salpêtrière, P3S, UMS Production et Analyse de données en Sciences de la vie et en Santé, PASS, INSERM, Sorbonne University, 75013 Paris, France., Heissel S; Proteomics Resource Center, The Rockefeller University, New York, NY 10065, USA., Baslan T; Cancer Biology and Genetics Program, Memorial Sloan Kettering Cancer Center, New York, NY 10065, USA., Zhang P; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA., Yang R; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA., Bogunovic D; Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA., Wunderink HF; Department of Medical Microbiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands., Haas PA; Department of Medical Microbiology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands., Molina H; Proteomics Resource Center, The Rockefeller University, New York, NY 10065, USA., Van Buggenhout G; Department of Human Genetics, KU Leuven, 3000 Leuven, Belgium.; Center for Human Genetics, University Hospitals Leuven, 3000 Leuven, Belgium., Lyonnet S; Imagine Institute, Paris Cité University, 75015 Paris, France.; Laboratory Embryology and Genetics of Malformations, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France., Notarangelo LD; Laboratory of Clinical Immunology and Microbiology, Division of Intramural Research, NIAID, NIH, Bethesda, MD 20852, USA., Seppänen MRJ; Rare Disease and Pediatric Research Centers, Children and Adolescents, University of Helsinki and HUS Helsinki University Hospital, 00260 Helsinki, Finland., Weil R; Centre d'Immunologie et des Maladies Infectieuses, INSERM U1135, CNRS ERL8255, Sorbonne University, 75724 Paris, France., Seminario G; Center for Clinical Immunology, Immunology Group Children's Hospital Ricardo Gutiérrez, C1425EFD Buenos Aires, Argentina., Gomez-Tello H; Immunology Department, Poblano Children's Hospital, 72190 Puebla, Mexico., Wouters C; Laboratory for Adaptive Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.; Department of Pediatrics, University Hospitals Leuven, 3000 Leuven, Belgium., Mesdaghi M; Department of Allergy and Clinical Immunology, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, 15468-155514 Tehran, Iran., Shahrooei M; Clinical and Diagnostic Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.; Specialized Immunology Laboratory of Dr. Shahrooei, Sina Medical Complex, 15468-155514 Ahvaz, Iran., Bossuyt X; Clinical and Diagnostic Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium., Sag E; Department of Pediatric Rheumatology, Hacettepe University, 06230 Ankara, Turkey., Topaloglu R; Department of Pediatric Nephrology, Hacettepe University School of Medicine, Hacettepe University, 06230 Ankara, Turkey., Ozen S; Department of Pediatric Rheumatology, Hacettepe University, 06230 Ankara, Turkey., Leavis HL; Department of Rheumatology and Clinical Immunology, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands., van Eijk MMJ; Department of Intensive Care Medicine, University Medical Center Utrecht, Utrecht University, 3584 CX Utrecht, Netherlands., Bezrodnik L; Center for Clinical Immunology, Immunology Group Children's Hospital Ricardo Gutiérrez, C1425EFD Buenos Aires, Argentina., Blancas Galicia L; Immune Deficiencies Laboratory National Institute of Pediatrics, 04530 Mexico City, Mexico., Hovnanian A; Imagine Institute, Paris Cité University, 75015 Paris, France.; Laboratory of Genetic Skin Diseases, INSERM U1163, 75015 Paris, France.; Department of Genetics, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France., Nassif A; Centre Médical, Institut Pasteur, 75724 Paris, France., Bader-Meunier B; Imagine Institute, Paris Cité University, 75015 Paris, France.; Pediatric Immunology, Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.; Laboratory of Immunogenetics of Pediatric Autoimmunity, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France., Neven B; Imagine Institute, Paris Cité University, 75015 Paris, France.; Pediatric Immunology, Hematology and Rheumatology Unit, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.; Laboratory of Immunogenetics of Pediatric Autoimmunity, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France., Meyts I; Laboratory of Inborn Errors of Immunity, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.; Department of Pediatrics, Jeffrey Modell Diagnostic and Research Network Center, University Hospitals Leuven, 3000 Leuven, Belgium., Schrijvers R; Allergy and Clinical Immunology Research Group, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium., Puel A; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France., Bustamante J; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France.; Study Center for Primary Immunodeficiencies, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France., Aksentijevich I; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD 20892, USA., Kastner DL; Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD 20892, USA., Torres VJ; Department of Microbiology, New York University Grossman School of Medicine, New York, NY 10016, USA., Humblet-Baron S; Laboratory for Adaptive Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium., Liston A; Laboratory for Adaptive Immunology, Department of Microbiology, Immunology and Transplantation, KU Leuven, 3000 Leuven, Belgium.; VIB Center for Brain and Disease Research, Leuven 3000, Belgium.; Immunology Programme, Babraham Institute, Babraham Research Campus, Cambridge CB22 3AT, UK., Abel L; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France., Boisson B; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France., Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY 10065, USA.; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM U1163, Necker Hospital for Sick Children, 75015 Paris, France.; Imagine Institute, Paris Cité University, 75015 Paris, France.; Department of Pediatrics, Necker Hospital for Sick Children, AP-HP, 75015 Paris, France.; Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10065, USA.

Publikováno v: Science (New York, N.Y.) [Science] 2022 Jun 17; Vol. 376 (6599), pp. eabm6380. Date of Electronic Publication: 2022 Jun 17.

Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development

Autor: Thuresson, A. C., Van Buggenhout, G., Sheth, F., Kamate, M., Andrieux, J., Clayton-Smith, Jill, Soussi Zander, C.

Publikováno v: Thuresson, A C, Van Buggenhout, G, Sheth, F, Kamate, M, Andrieux, J, Clayton-Smith, J & Soussi Zander, C 2016, ' Whole gene duplication of SCN2A and SCN3A is associated with neonatal seizures and a normal intellectual development ', Clinical Genetics . https://doi.org/10.1111/cge.12797

Duplications at 2q24.3 encompassing the voltage-gated sodium channel gene cluster are associated with early onset epilepsy. All cases described in the literature have presented in addition with different degrees of intellectual disability, and have i

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https://pure.manchester.ac.uk/ws/files/38535646/37112362.Thuresson_et_al_author_accepted.docx