Search Results - "Howrigan DP"

A blended genome and exome sequencing method captures genetic variation in an unbiased and cost-effective manner.

Authors: Boltz TA Chu BB DeFelice M et al.

Corporate Authors: Boltz TA Chu BB DeFelice M et al.

Source: Nature genetics [Nat Genet] 2026 Jul 08. Date of Electronic Publication: 2026 Jul 08.

Publication Type: Journal Article

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Tutorial: guidelines for quality filtering of whole-exome and whole-genome sequencing data for population-scale association analyses.

Authors: Sealock JM Ivankovic F Liao C et al.

Source: Nature protocols [Nat Protoc] 2025 Sep; Vol. 20 (9), pp. 2372-2382. Date of Electronic Publication: 2025 Mar 28.

Publication Type: Journal Article; Review

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101284307 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1750-2799 (Electronic) Linking ISSN: 17502799 NLM ISO Abbreviation: Nat Protoc Subsets: MEDLINE

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Authors: Chen S Abou-Khalil BW Afawi Z et al.

Source: MedRxiv : the preprint server for health sciences [medRxiv] 2024 Sep 20. Date of Electronic Publication: 2024 Sep 20.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

A blended genome and exome sequencing method captures genetic variation in an unbiased, high-quality, and cost-effective manner.

Authors: Boltz TA Chu BB Liao C et al.

Corporate Authors: Boltz TA Chu BB Liao C et al.

Source: BioRxiv : the preprint server for biology [bioRxiv] 2024 Sep 08. Date of Electronic Publication: 2024 Sep 08.

Publication Type: Journal Article; Preprint

Journal Info: Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Principled distillation of UK Biobank phenotype data reveals underlying structure in human variation.

Authors: Carey CE Shafee R Wedow R et al.

Source: Nature human behaviour [Nat Hum Behav] 2024 Aug; Vol. 8 (8), pp. 1599-1615. Date of Electronic Publication: 2024 Jul 04.

Publication Type: Journal Article

Journal Info: Publisher: Springer Nature Publishing Country of Publication: England NLM ID: 101697750 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2397-3374 (Electronic) Linking ISSN: 23973374 NLM ISO Abbreviation: Nat Hum Behav Subsets: MEDLINE

Epilepsy subtype-specific copy number burden observed in a genome-wide study of 17 458 subjects.

Authors: Niestroj LM Perez-Palma E Howrigan DP et al.

Corporate Authors: Niestroj LM Perez-Palma E Howrigan DP et al.

Source: Brain : a journal of neurology [Brain] 2020 Jul 01; Vol. 143 (7), pp. 2106-2118.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Paternal-age-related de novo mutations and risk for five disorders.

Authors: Taylor JL Debost JPG Morton SU et al.

Source: Nature communications [Nat Commun] 2019 Jul 10; Vol. 10 (1), pp. 3043. Date of Electronic Publication: 2019 Jul 10.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Functional equivalence of genome sequencing analysis pipelines enables harmonized variant calling across human genetics projects.

Authors: Regier AA Farjoun Y Larson DE et al.

Source: Nature communications [Nat Commun] 2018 Oct 02; Vol. 9 (1), pp. 4038. Date of Electronic Publication: 2018 Oct 02.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Validation Study

Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Systematic single-variant and gene-based association testing of thousands of phenotypes in 394,841 UK Biobank exomes.

Authors: Karczewski KJ Solomonson M Chao KR et al.

Source: Cell genomics [Cell Genom] 2022 Aug 15; Vol. 2 (9), pp. 100168. Date of Electronic Publication: 2022 Aug 15 (Print Publication: 2022).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier, Inc Country of Publication: United States NLM ID: 9918284260106676 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-979X (Electronic) Linking ISSN: 2666979X NLM ISO Abbreviation: Cell Genom Subsets: PubMed not MEDLINE

A cross-disorder dosage sensitivity map of the human genome.

Authors: Collins RL Glessner JT Porcu E et al.

Corporate Authors: Collins RL Glessner JT Porcu E et al.

Source: Cell [Cell] 2022 Aug 04; Vol. 185 (16), pp. 3041-3055.e25. Date of Electronic Publication: 2022 Aug 01.

Publication Type: Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 0413066 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-4172 (Electronic) Linking ISSN: 00928674 NLM ISO Abbreviation: Cell Subsets: MEDLINE

Exome sequencing in bipolar disorder identifies AKAP11 as a risk gene shared with schizophrenia.

Authors: Palmer DS Howrigan DP Chapman SB et al.

Source: Nature genetics [Nat Genet] 2022 May; Vol. 54 (5), pp. 541-547. Date of Electronic Publication: 2022 Apr 11.

Publication Type: Journal Article; Meta-Analysis; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Rare coding variants in ten genes confer substantial risk for schizophrenia.

Authors: Singh T Poterba T Curtis D et al.

Source: Nature [Nature] 2022 Apr; Vol. 604 (7906), pp. 509-516. Date of Electronic Publication: 2022 Apr 08.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

Mapping genomic loci implicates genes and synaptic biology in schizophrenia.

Authors: Trubetskoy V Pardiñas AF Qi T et al.

Corporate Authors: Trubetskoy V Pardiñas AF Qi T et al.

Source: Nature [Nature] 2022 Apr; Vol. 604 (7906), pp. 502-508. Date of Electronic Publication: 2022 Apr 08.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

No Reliable Association between Runs of Homozygosity and Schizophrenia in a Well-Powered Replication Study.

Authors: Johnson EC Bjelland DW Howrigan DP et al.

Corporate Authors: Johnson EC Bjelland DW Howrigan DP et al.

Source: PLoS genetics [PLoS Genet] 2016 Oct 28; Vol. 12 (10), pp. e1006343. Date of Electronic Publication: 2016 Oct 28 (Print Publication: 2016).

Publication Type: Journal Article

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: eCollection Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.

Authors: Bis JC Jian X Kunkle BW et al.

Corporate Authors: Bis JC Jian X Kunkle BW et al.

Source: Molecular psychiatry [Mol Psychiatry] 2020 Aug; Vol. 25 (8), pp. 1859-1875. Date of Electronic Publication: 2018 Aug 14.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5578 (Electronic) Linking ISSN: 13594184 NLM ISO Abbreviation: Mol Psychiatry Subsets: MEDLINE

Correction: Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation.

Authors: Bis JC Jian X Kunkle BW et al.

Corporate Authors: Bis JC Jian X Kunkle BW et al.

Source: Molecular psychiatry [Mol Psychiatry] 2020 Aug; Vol. 25 (8), pp. 1901-1903.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Publishing Group Specialist Journals Country of Publication: England NLM ID: 9607835 Publication Model: Print Cited Medium: Internet ISSN: 1476-5578 (Electronic) Linking ISSN: 13594184 NLM ISO Abbreviation: Mol Psychiatry Subsets: MEDLINE; PubMed not MEDLINE

Genome-Wide Association Study of Behavioral Disinhibition in a Selected Adolescent Sample.

Authors: Derringer J Corley RP Haberstick BC et al.

Source: Behavior genetics [Behav Genet] 2015 Jul; Vol. 45 (4), pp. 375-81. Date of Electronic Publication: 2015 Jan 31.

Publication Type: Journal Article

Journal Info: Publisher: Kluwer Academic/Plenum Publishers Country of Publication: United States NLM ID: 0251711 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-3297 (Electronic) Linking ISSN: 00018244 NLM ISO Abbreviation: Behav Genet Subsets: MEDLINE

Runs of homozygosity implicate autozygosity as a schizophrenia risk factor.

Authors: Keller MC Simonson MA Ripke S et al.

Corporate Authors: Keller MC Simonson MA Ripke S et al.

Source: PLoS genetics [PLoS Genet] 2012; Vol. 8 (4), pp. e1002656. Date of Electronic Publication: 2012 Apr 12.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Detecting autozygosity through runs of homozygosity: a comparison of three autozygosity detection algorithms.

Authors: Howrigan DP Simonson MA Keller MC

Source: BMC genomics [BMC Genomics] 2011 Sep 23; Vol. 12, pp. 460. Date of Electronic Publication: 2011 Sep 23.

Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164 (Electronic) Linking ISSN: 14712164 NLM ISO Abbreviation: BMC Genomics Subsets: MEDLINE

Publisher Correction: Exome sequencing in amyotrophic lateral sclerosis implicates a novel gene, DNAJC7, encoding a heat-shock protein.

Authors: Farhan SMK Howrigan DP Abbott LE et al.

Corporate Authors: Farhan SMK Howrigan DP Abbott LE et al.

Source: Nature neuroscience [Nat Neurosci] 2020 Feb; Vol. 23 (2), pp. 295.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9809671 Publication Model: Print Cited Medium: Internet ISSN: 1546-1726 (Electronic) Linking ISSN: 10976256 NLM ISO Abbreviation: Nat Neurosci Subsets: MEDLINE; PubMed not MEDLINE