Ultrarare Variants in DNA Damage Repair Genes in Pediatric Acute-Onset Neuropsychiatric Syndrome or Acute Behavioral Regression in Neurodevelopmental Disorders.

Autor: Cunningham JL; Department of Medical Sciences, Psychiatry, Uppsala University, Uppsala, Sweden., Frankovich J; Department of Pediatrics, Division of Pediatric Allergy, Immunology, Rheumatology and Immune Behavioral Health Program, Stanford Children's Health and Stanford University School of Medicine, Palo Alto, California, USA., Dubin RA; Center for Epigenomics, Computational Genomics Core, Albert Einstein College of Medicine, New York, New York, USA., Pedrosa E; Department of Psychiatry and Behavioral Sciences, Albert Einstein College of Medicine, New York, New York, USA., Baykara RN; Department of Psychiatry and Behavioral Sciences, Albert Einstein College of Medicine, New York, New York, USA., Schlenk NC; Stanford Children's Health, PANS Clinic and Research Program, Stanford University School of Medicine, Stanford, California, USA., Maqbool SB; Department of Genetics Epigenetics Shared Facility, Albert Einstein College of Medicine, New York, New York, USA., Dolstra H; Department of Psychiatry and Behavioral Sciences, Albert Einstein College of Medicine, New York, New York, USA., Marino J; Department of Psychiatry and Behavioral Sciences, Albert Einstein College of Medicine, New York, New York, USA., Edinger J; Department of Psychiatry and Behavioral Sciences, Albert Einstein College of Medicine, New York, New York, USA., Shea JM; Department of Psychiatry and Behavioral Sciences, Albert Einstein College of Medicine, New York, New York, USA., Laje G; Department of Psychiatry, Permian Basin, Texas Tech University Health Sciences Center School of Medicine, Lubbock, Texas, USA., Swagemakers SMA; Department of Pathology and Clinical Bioinformatics, Erasmus MC, Rotterdam, The Netherlands., Sinnadurai S; Department of Pathology and Clinical Bioinformatics, Erasmus MC, Rotterdam, The Netherlands.; Department of Epidemiology and Health Promotion at the School of Public Health Medical Center for Postgraduate Education, Warsaw, Poland., Zhang ZD; Department of Genetics, Albert Einstein College of Medicine, New York, New York, USA., Lin JR; Department of Genetics, Albert Einstein College of Medicine, New York, New York, USA., van der Spek PJ; Department of Pathology and Clinical Bioinformatics, Erasmus MC, Rotterdam, The Netherlands., Lachman HM; Department of Psychiatry and Behavioral Sciences, Department of Medicine, Department of Genetics, Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, New York, New York, USA.

Publikováno v: Developmental neuroscience [Dev Neurosci] 2024 Oct 11, pp. 1-20. Date of Electronic Publication: 2024 Oct 11.

KDM5-mediated transcriptional activation of ribosomal protein genes alters translation efficiency to regulate mitochondrial metabolism in neurons.

Autor: Yheskel M; Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA., Hatch HAM; Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY 10461, USA., Pedrosa E; Department of Psychiatry and Behavioral Sciences, Albert Einstein College of Medicine, Bronx, NY 10461, USA., Terry BK; Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA., Siebels AA; Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY 10461, USA., Zheng XY; Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA., Blok LER; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 Nijmegen, GA, The Netherlands., Fencková M; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 Nijmegen, GA, The Netherlands.; Department of Molecular Biology and Genetics, Faculty of Science, University of South Bohemia, Ceske Budejovice 370 05, Czechia., Sidoli S; Department of Biochemistry, Albert Einstein College of Medicine, Bronx, NY 10461, USA., Schenck A; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, 6525 Nijmegen, GA, The Netherlands., Zheng D; Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.; Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY 10461, USA.; Department of Neurology, Albert Einstein College of Medicine, 1300 Morris Park Ave., Bronx, NY 10461, USA., Lachman HM; Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.; Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY 10461, USA.; Department of Psychiatry and Behavioral Sciences, Albert Einstein College of Medicine, Bronx, NY 10461, USA.; Department of Medicine, Albert Einstein College of Medicine, 1300 Morris Park Ave., Bronx, NY 10461, USA., Secombe J; Department of Genetics, Albert Einstein College of Medicine, Bronx, NY 10461, USA.; Dominick P. Purpura Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY 10461, USA.

Publikováno v: Nucleic acids research [Nucleic Acids Res] 2024 Jun 24; Vol. 52 (11), pp. 6201-6219.

Positive association of schizophrenia to JARID2 genePlease cite this article as follows: Pedrosa E, Ye K, Nolan KA, Morrell Lauren, Okun JM, Persky AD, Saito T, Lachman HM. 2007. Positive association of schizophrenia to JARID2 Gene. Am J Med Genet Part B 144B:45–51.

Autor: Pedrosa, Erika, Ye, Kenny, Nolan, Karen A., Morrell, Lauren, Okun, Jeffrey M., Persky, Adam D., Saito, Takuya, Lachman, Herbert M.

Publikováno v: American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics: The Official Publication of the International Society of Psychiatric Genetics; January 2007, Vol. 144 Issue: 1 p45-51, 7p

Molecular and network disruptions in neurodevelopment uncovered by single cell transcriptomics analysis of CHD8 heterozygous cerebral organoids.

Autor: Astorkia M; Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA., Liu Y; Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA., Pedrosa EM; Department of Psychiatry and Behavioral Science, Albert Einstein College of Medicine, Bronx, NY, USA., Lachman HM; Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA.; Department of Psychiatry and Behavioral Science, Albert Einstein College of Medicine, Bronx, NY, USA.; Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY, USA., Zheng D; Department of Genetics, Albert Einstein College of Medicine, Bronx, NY, USA.; Department of Neuroscience, Albert Einstein College of Medicine, Bronx, NY, USA.; Department of Neurology, Albert Einstein College of Medicine, Bronx, NY, USA.

Publikováno v: BioRxiv : the preprint server for biology [bioRxiv] 2023 Sep 27. Date of Electronic Publication: 2023 Sep 27.

Jansen-de Vries syndrome: Expansion of the PPM1D clinical and phenotypic spectrum in 34 families.

Autor: Wojcik MH; Division of Newborn Medicine, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Srivastava S; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA., Agrawal PB; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.; Division of Neonatology, Department of Pediatrics, Miller School of Medicine, University of Miami and Holtz Children's Hospital, Jackson Health System, Miami, Florida, USA., Balci TB; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada., Callewaert B; Center for Medical Genetics, Pediatrics Department, Ghent University Hospital, Ghent, Belgium., Calvo PL; Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy., Carli D; Department of Public Health and Pediatrics, University of Torino, Torino, Italy., Caudle M; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada., Colaiacovo S; Medical Genetics Program of Southwestern Ontario, London Health Sciences Centre, London, Ontario, Canada., Cross L; Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA., Demetriou K; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia., Drazba K; Greenwood Genetic Center, Greenwood, South Carolina, USA., Dutra-Clarke M; Division of Genetics, Department of Pediatrics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA., Edwards M; Paediatrics, School of Medicine, Western Sydney University, Hunter Genetics, Newcastle, New South Wales, Australia., Genetti CA; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA.; Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA., Grange DK; Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, USA., Hickey SE; Department of Pediatrics, The Ohio State University College of Medicine, Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Isidor B; Department of Medical Genetics, Nantes Hospital, Nantes, France., Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France; Nantes Université, CHU Nantes, CNRS, INSERM, L'institut du thorax, Nantes, France., Lachman HM; Departments of Behavioral Science, Medicine, and Psychiatry, Albert Einstein College of Medicine, Bronx, New York, USA., Lavillaureix A; Service de Génétique Clinique, Centre de Référence Maladies Rares CLAD-Ouest, ERN ITHACA, CHU Rennes, Hôpital Sud, Rennes, France., Lyons MJ; Greenwood Genetic Center, Greenwood, South Carolina, USA., Marcelis C; Department of Human Genetics, Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands., Marco EJ; Cortica Healthcare, Marin Center, San Rafael, California, USA., Martinez-Agosto JA; Division of Genetics, Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA., Nowak C; Division of Genetics and Genomics, Department of Pediatrics and Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts, USA., Pizzol A; Pediatric Gastroenterology Unit, Regina Margherita Children's Hospital, Azienda Ospedaliera-Universitaria Città della Salute e della Scienza, Turin, Italy., Planes M; Service de Génétique Clinique, University Hospital Morvan, Brest, France., Prijoles EJ; Greenwood Genetic Center, Greenwood, South Carolina, USA., Riberi E; Department of Public Health and Pediatrics, University of Torino, Torino, Italy., Rush ET; UKMC School of Medicine, University of Missouri Kansas City, Kansas City, Missouri, USA.; Division of Genetics, Children's Mercy Kansas City, Kansas City, Missouri, USA.; Department of Internal Medicine, University of Kansas School of Medicine, Kansas City, Missouri, USA., Russell BE; Division of Genetics, Departments of Pediatrics and Human Genetics, David Geffen School of Medicine, University of California at Los Angeles, Los Angeles, California, USA., Sachdev R; Centre for Clinical Genetics, Sydney Children's Hospital, Sydney, New South Wales, Australia.; School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia., Schmalz B; Department of Pediatrics, The Ohio State University College of Medicine, Division of Genetic & Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA., Shears D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Stevenson DA; Division of Medical Genetics, Department of Pediatrics, Stanford University, Stanford, California, USA., Wilson K; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK., Jansen S; Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands., de Vries BBA; Donders Centre for Neuroscience, Radboud University Medical Center, Nijmegen, The Netherlands., Curry CJ; Genetic Medicine, Department of Pediatrics, University of California San Francisco/Fresno, Fresno, California, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jul; Vol. 191 (7), pp. 1900-1910. Date of Electronic Publication: 2023 May 14.