2024
Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes
Olfson E, Farhat L, Liu W, Vitulano L, Zai G, Lima M, Parent J, Polanczyk G, Cappi C, Kennedy J, Fernandez T. Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes. Nature Communications 2024, 15: 5870. PMID: 38997333, PMCID: PMC11245598, DOI: 10.1038/s41467-024-50247-7.Peer-Reviewed Original ResearchConceptsDNA sequencesRisk genesHigh-confidence risk genesWhole-exome DNA sequencingSequencing of familiesIdentified de novoLysine demethylase 5BDNA variantsTrio cohortBiological pathwaysGenesSequencing cohortGenetic factorsChildhood neurodevelopmental disordersAttention-deficit/hyperactivity disorderSequenceVariantsADHD riskNeurodevelopmental disordersKDM5BDNAMutationsFamilyLysineDiscovery
2023
Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene
Fernandez T, Williams Z, Kline T, Rajendran S, Augustine F, Wright N, Sullivan C, Olfson E, Abdallah S, Liu W, Hoffman E, Gupta A, Singer H. Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify KDM5B as a risk gene. PLOS ONE 2023, 18: e0291978. PMID: 37788244, PMCID: PMC10547198, DOI: 10.1371/journal.pone.0291978.Peer-Reviewed Original ResearchConceptsRisk genesDe novo damaging variantsGene expression patternsWhole-exome DNA sequencingMid-fetal developmentAdditional risk genesHigh-confidence risk genesParent-child triosGene OntologyCell signalingExpression patternsCalcium ion transportFunctional convergenceCell cycleDamaging variantsGenesDNA sequencingDe novoASD probandsGenetic etiologyBiological mechanismsSequencingDNANetwork analysisIon transport
2019
De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette’s Disorder and Autism
Cappi C, Oliphant ME, Péter Z, Zai G, Conceição do Rosário M, Sullivan CAW, Gupta AR, Hoffman EJ, Virdee M, Olfson E, Abdallah SB, Willsey AJ, Shavitt RG, Miguel EC, Kennedy JL, Richter MA, Fernandez TV. De Novo Damaging DNA Coding Mutations Are Associated With Obsessive-Compulsive Disorder and Overlap With Tourette’s Disorder and Autism. Biological Psychiatry 2019, 87: 1035-1044. PMID: 31771860, PMCID: PMC7160031, DOI: 10.1016/j.biopsych.2019.09.029.Peer-Reviewed Original Research
2015
Identification of Medically Actionable Secondary Findings in the 1000 Genomes
Olfson E, Cottrell CE, Davidson NO, Gurnett CA, Heusel JW, Stitziel NO, Chen LS, Hartz S, Nagarajan R, Saccone NL, Bierut LJ. Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLOS ONE 2015, 10: e0135193. PMID: 26332594, PMCID: PMC4558085, DOI: 10.1371/journal.pone.0135193.Peer-Reviewed Original ResearchConceptsSecondary findingsAdditional truncating variantsRelevant secondary findingsCancer predisposition syndromeClinical laboratory specialistsActionable secondary findingsCardiac conditionsAmerican CollegeFamilial hypercholesterolemiaPredisposition syndromeAfrican ancestry groupPathogenic variantsTruncating variantsClinical standardsLiterature reviewActionable conditionsImportant secondary findingActionable findingsDiseaseACMG genesLaboratory specialistsUnderstudied populationAncestry groupsCandidate variantsExpert physicians
2014
Summaries of oral sessions at the XXI World Congress of Psychiatric Genetics, Boston, Massachusetts, 17–21 October 2013
Akpudo H, Aleksic B, Alkelai A, Burton C, Roa T, Chen DT, Cheng MC, Cocchi E, Davis LK, Giori IG, Hubbard LM, Merikangas A, Moily NS, Okewole A, Olfson E, Pappa I, Reitt M, Singh AB, Steinberg J, Strohmaier J, Ting TT, van Hulzen KJ, O’Shea A, DeLisi LE. Summaries of oral sessions at the XXI World Congress of Psychiatric Genetics, Boston, Massachusetts, 17–21 October 2013. Psychiatric Genetics 2014, 24: 125-150. PMID: 24912047, DOI: 10.1097/ypg.0000000000000043.Peer-Reviewed Original Research