A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders

JAMA Psychiatry
Andrea J Gonzalez-MantillaChrista Lese Martin

Abstract

Developmental brain disorders are a group of clinically and genetically heterogeneous disorders characterized by high heritability. Specific highly penetrant genetic causes can often be shared by a subset of individuals with different phenotypic features, and recent advances in genome sequencing have allowed the rapid and cost-effective identification of many of these pathogenic variants. To identify novel candidate genes for developmental brain disorders and provide additional evidence of previously implicated genes. The PubMed database was searched for studies published from March 28, 2003, through May 7, 2015, with large cohorts of individuals with developmental brain disorders. A tiered, multilevel data-integration approach was used, which intersects (1) whole-genome data from structural and sequence pathogenic loss-of-function (pLOF) variants, (2) phenotype data from 6 apparently distinct disorders (intellectual disability, autism, attention-deficit/hyperactivity disorder, schizophrenia, bipolar disorder, and epilepsy), and (3) additional data from large-scale studies, smaller cohorts, and case reports focusing on specific candidate genes. All candidate genes were ranked into 4 tiers based on the strength of evidence as fo...Continue Reading

Citations

Mar 19, 2016·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Jun EgawaToshiyuki Someya
Apr 7, 2016·Neuroscience and Biobehavioral Reviews·Judith R HombergAllan V Kalueff
Oct 19, 2016·Neurobiology of Disease·Ligia A PapaleReid S Alisch
Jan 28, 2017·Epigenetics : Official Journal of the DNA Methylation Society·Ligia A PapaleReid S Alisch
Dec 16, 2017·Genome Medicine·Matthew Jensen, Santhosh Girirajan
Oct 26, 2018·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Amanda BrignellAngela T Morgan
Mar 23, 2019·Molecular Genetics & Genomic Medicine·Tricia N ZionChristian Antolik
Dec 5, 2017·Psychological Medicine·Joanna MartinPaul Lichtenstein
Mar 16, 2019·Clinical Genetics·Paola CastronovoAntonio M Persico
Jun 12, 2019·Human Mutation·Angélique QuartierAmélie Piton
Aug 30, 2016·Current Genetic Medicine Reports·Brenda Finucane, Scott M Myers
Jan 31, 2020·American Journal of Medical Genetics. Part a·Pedro H LucenaRita Lucena
May 3, 2019·NPJ Genomic Medicine·Ada J S ChanStephen W Scherer
Mar 11, 2020·Journal of Medical Genetics·Matthew JensenSanthosh Girirajan
Jan 18, 2019·PLoS Genetics·Matthew Jensen, Santhosh Girirajan
Nov 30, 2019·Free Radical Research·Melissa ReitererSarah L Milton
Sep 16, 2017·Nucleic Acids Research·Andrea GazzoTom Lenaerts
Sep 8, 2018·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Lucilla PizzoSanthosh Girirajan
Oct 12, 2019·NPJ Genomic Medicine·Mehdi ZarreiStephen W Scherer
Dec 3, 2016·Nucleic Acids Research·Tychele N TurnerEvan E Eichler
Jan 4, 2017·Current Behavioral Neuroscience Reports·Anna R DochertyAyman H Fanous
Oct 28, 2019·Genome Medicine·Julie ChowFereydoun Hormozdiari
Aug 14, 2018·Briefings in Bioinformatics·Wenliang ZhangWeizhong Li
Apr 23, 2020·Nature Reviews. Genetics·Christian P SchaafJacob A S Vorstman
Feb 3, 2021·JAMA : the Journal of the American Medical Association·Andrés Moreno-De-LucaChrista L Martin
Mar 9, 2021·Frontiers in Pediatrics·Juliann M Savatt, Scott M Myers
Mar 12, 2021·Autism Research : Official Journal of the International Society for Autism Research·Jennifer D BrooksSusan E Bronskill
Feb 17, 2019·Journal of Psychiatric Research·Karin Vanessa Carias, Rachel Wevrick
May 2, 2021·Molecular and Cellular Neurosciences·Claire S LeblondThomas Bourgeron
May 11, 2021·Journal of Autism and Developmental Disorders·Kuokuo LiJinchen Li
Jul 3, 2021·International Journal of Molecular Sciences·Carla LiaciGiorgio R Merlo
Aug 5, 2021·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Jérémie CourraudAmélie Piton
May 4, 2020·American Journal of Human Genetics·Scott M MyersDavid H Ledbetter

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