Faculty

Institution

Unit

Venue

Brian O'Roak

Professor of Molecular and Medical Genetics

Oregon Health & Science University

Affiliations

Division Of Genetics

Oregon Health & Science University

Oregon National Primate Research Center

Brian O'Roak is a Professor of Molecular and Medical Genetics at Oregon Health & Science University. His research integrates human genetics, genomics, and molecular neuroscience to elucidate the genetic architecture of autism spectrum disorder and other neurodevelopmental disorders. His recent work includes large-scale genomic analyses of de novo and inherited variants in over 42,000 autism cases, identifying moderate-risk genes, and functional studies of patient-specific Tbr1 mutations on cortical development. He also leads the Healthy Oregon Project, a statewide population cohort for cancer and inherited disease screening, and has contributed to studies on aerosol delivery of SARS-CoV-2 monoclonal antibodies.

Honors

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Experiences

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Education

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Brian O'Roak

Oregon Health & Science University

Professor of Molecular and Medical Genetics

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genetics human genetics genomics molecular biology autism neuroscience medical genetics molecular genetics neurogenetics genome biology genetic disorders neurology neurodevelopmental disorders bioinformatics population genetics psychiatric genetics gene expression developmental system syndromic autism next-generation sequencing developmental cell molecular cell biology genome sequencing single-cell analysis chromatin remodeling genome-wide association studies disease gene identification stem cell research mammalian biology cell research behavioral disorders psychiatric research molecular diagnostics molecular neurodegeneration biological psychiatry child neurology genotype-phenotype association developmental genetics protein genetics genome analysis epigenomics sequence analysis single cell sequencing developmental disorders dna sequencing autism spectrum disorders novo mutations exome sequence data autism genetics autism spectrum disorder exome sequencing evolutionary applications biomedical informatics variant interpretation human variation complex diseases splicing variant genome studies in vivo systems renal function renal pathophysiology plant genetics allelic variant brain science brain pathology brain mapping general framework human genetic variants relative pathogenicity spectrum disorder protein network sporadic autism exomes williams syndrome region sequence variants rare independent mutations pressure variation

Notable Scholarly Works

Notable Federal Grants

Collaborators

Detailed Phenotyping of Tbr1‐2A‐Creer Knock‐in Mice Demonstrates Significant Impacts on Tbr1 Protein Levels and Axon Development. Autism Research (2024)

genomic mechanismsmolecular neurobiologydevelopmental biologydevelopmental systemcell researchgeneticsneurogeneticsknockout micesignificant impactscell signalingcell biologygene expressiondevelopmental cellgene regulationaxon developmentdevelopmental neurobiologydetailed phenotypingmolecular cell biologygene function

Novel Recruitment Approaches and Operational Results for a Statewide Population Cohort for Cancer Research: The Healthy Oregon Project. Journal of Clinical and Translational Science (2024)

Zhenzhen ZhangAutumn ShaferKatie Johnson-CamachoAndrew AdeyPavana AnurKim A. BrownCasey ConradRachel CristPaige E. FarrisChristina A. HarringtonLisa K. MarriottAsia MitchellBrian O’RoakVanessa SerratoC. Sue RichardsPaul T. SpellmanJackilen Shannon

health communicationepidemiologyhealthy oregon projectclinical epidemiologyclinical populationscancer researchclinical researchhealth sciencesstatisticsstate-wide population cohort

Aerosol Delivery of Sars-Cov-2 Human Monoclonal Antibodies in Macaques Limits Viral Replication and Lung Pathology. Nature Communications (2023)

Daniel N. StreblowAlec J. HirschJeffrey J. StantonAnne D. LewisLois ColginAnn J. HessellCraig N. KreklywichJessica L. SmithWilliam F. SuttonDavid ChauvinJennifer WooBenjamin N. BimberCierra N. LeBlancSonia N. AcharyaBrian J. O’RoakHarjinder SardarMohammad M. SajadiZahra R. TehraniMark R. WalterLuis Martinez-SobridoJames J. KobieRachel J. ReaderKatherine J. OlstadTheodore R. HobbsErica Ollmann SaphireSharon L. SchendelRobert H. CarnahanJonas KnochLuis M. BrancoJames E. CroweKoen K. A. Van RompayPhillip LovalentiNone Vu TruongDonald N. ForthalNancy L. Haigwood

aerosol transportaerosol deliveryinfectious diseasesvirologyviral replicationlung pathologyimmunologyaerosol sciencerespiratory medicinesars-cov-2covid-19

Population Screening Shows Risk of Inherited Cancer and Familial Hypercholesterolemia in Oregon. The American Journal of Human Genetics (2023)

public healthepidemiologyclinical lipidologyinherited cancerpopulation healthcancer riskepidemiology of cancerlipid disordersgenetic epidemiologygenetic testingfamilial hypercholesterolemia

Cas12A-Capture: A Novel, Low-Cost, and Scalable Method for Targeted Sequencing. The CRISPR Journal (2022)

genome editingtargeted sequencingbiomedical analysisnext-generation sequencingnucleic acidsmicrobiologymolecular diagnosticshigh throughput sequencingmolecular biologylong-read sequencingsystems biologybioinformaticsgenome biology

Integrated Gene Analyses of De Novo Variants From 46,612 Trios With Autism and Developmental Disorders. Proceedings of the National Academy of Sciences (2022)

Tianyun WangChang N. KimTrygve E. BakkenMadelyn A. GillentineBarbara HenningYafei MaoChristian GilissenTomasz J. NowakowskiEvan E. EichlerJohn AcampadoAndrea J. AceAlpha AmatyaIrina AstrovskayaAsif BasharElizabeth BrooksMartin E. ButlerLindsey A. CartnerWubin ChinWendy K. ChungAmy M. DanielsPamela FelicianoChris FleischSwami GanesanWilliam JensenAlex E. LashRichard MariniVincent J. MyersEirene O'ConnorChris RigbyBeverly E. RobertsonNeelay ShahSwapnil ShahEmily SingerLeeAnne G. SnyderAlexandra N. StephensJennifer TjernagelBrianna M. VernoiaNatalia VolfovskyLoran Casey WhiteAlexander HsiehYufeng ShenXueya ZhouTychele N. TurnerEthan BahlTaylor R. ThomasLeo BrueggemanTanner KoomarJacob J. MichaelsonBrian J. O'RoakRebecca A. BarnardRichard A. GibbsDonna MuznyAniko SaboKelli L. Baalman AhmedEvan E. EichlerMatthew SiegelLeonard AbbedutoDavid G. AmaralBrittani A. HilscherDeana LiKaitlin SmithSamantha ThompsonCharles AlbrightEric M. ButterSara EldredNathan HannaMark JonesDaniel Lee CouryJessica ScherrTaylor PifherErin RobyBrandy DennisLorrin HigginsMelissa BrownMichael AlessandriAnibal GutierrezMelissa N. HaleLynette M. HerbertHoa Lam SchneiderGiancarla DavidRobert D. AnnettDustin E. SarverIvette ArriagaAlexies CambaAmanda C. GulsrudMonica HaleyJames T. McCrackenSophia SandhuMaira TafollaWha S. YangLaura A. CarpenterCatherine C. BradleyFrampton GwynettePatricia ManningRebecca ShafferCarrie ThomasRaphael A. BernierEmily A. FoxJennifer A. GerdtsMicah Pepper

biostatisticsgenomicsgene analysesgeneticshuman geneticsautism

Integrating De Novo and Inherited Variants in 42,607 Autism Cases Identifies Mutations in New Moderate-Risk Genes. Nature Genetics (2022)

Xueya ZhouPamela FelicianoChang ShuTianyun WangIrina AstrovskayaJacob B. HallJoseph U. ObiajuluJessica R. WrightShwetha C. MuraliSimon Xuming XuLeo BrueggemanTaylor R. ThomasOlena MarchenkoChristopher FleischSarah D. BarnsLeeAnne Green SnyderBing HanTimothy S. ChangTychele N. TurnerWilliam T. HarveyAndrew NishidaBrian J. O’RoakDaniel H. GeschwindAdrienne AdamsAlpha AmatyaAlicia AndrusAsif BasharAnna BermanAlison BrownAlexies CambaAmanda C. GulsrudAnthony D. KrentzAmanda D. ShockleeAmy EslerAlex E. LashAnne FantaAli FatemiAngela FishAlexandra GolerAntonio GonzalezAnibal GutierrezAntonio HardanAmy HessAnna HirshmanAlison HolbrookAndrea J. AceAnthony J. GriswoldAngela J. GruberAndrea JarrattAnna JelinekAlissa JorgensonA. Pablo JuarezAnnes KimAlex KitaygorodskyAddie LuoAngela L. RachubinskiAllison L. WainerAmy M. DanielsAnup MankarAndrew MasonAlexandra MiceliAnna MillikenAmy Morales-LaraAlexandra N. StephensAi Nhu NguyenAmy NicholsonAnna Marie PaolicelliAlexander P. McKenzieAbha R. GuptaAshley RavenAnna RheaAndrea SimonAubrie SoucyAmy SwansonAnthony SziklayAmber TallbullAngela TesngAudrey WardAllyson ZickBrittani A. HilscherBrandi BellBarbara EnrightBeverly E. RobertsonBrenda HaufBill JensenBrandon LobisiBrianna M. VernoiaBrady SchwindBonnie VanMetreCraig A. EricksonCatherine A. W. SullivanCharles AlbrightClaudine AngloCate BuescherCatherine C. BradleyClaudia Campo-SoriaCheryl CohenCostanza ColombiChris DigginsCatherine Edmonson

inherited variantsgenomicsallelic variantgenetic variationmolecular geneticsgeneticshuman geneticsmedical geneticsautism

Shared and Distinct Functional Effects of Patient-Specific Tbr1 Mutations on Cortical Development. Journal of Neuroscience (2022)

neurosciencedevelopmental biologybehavioural geneticsdevelopmental systemhuman geneticsgeneticsneurogeneticsmutagenesis (molecular biology technique)distinct functional effectscortical developmentmolecular neurodegenerationdevelopmental cognitive neurosciencedevelopmental neurobiologymedical geneticsgenetic disordersneurodevelopmental disordersdisease gene identificationabnormal developmentpsychiatric genetics

High-Content Single-Cell Combinatorial Indexing. Nature Biotechnology (2021)

Ryan M. MulqueenDmitry PokholokBrendan L. O’ConnellCasey A. ThorntonFan ZhangBrian J. O’RoakJason LinkGalip Gürkan YardımcıRosalie C. SearsFrank J. SteemersAndrew C. Adey

combinatoricsgraph theoryknowledge discoverycombinatorial optimizationcombinatorial theorycell biologyfunctional genomicssingle-cell analysiscombinatorial data analysismicrobiologybiotechnologydata indexingcombinatorial pattern matchingmachine learning researchdata managementcell researchsingle cell sequencingbiomolecular engineering

Neutralization of Sars-Cov-2 Variants by Convalescent and Bnt162B2 Vaccinated Serum. Nature Communications (2021)

medical virologyvaccine targetsinfectious diseasesvirologyvaccinesviral diagnosticsvaccine developmentvaccine safetyvaccinationimmunologysars-cov-2 variantssars-cov-2vaccine researchimmunity (medicine)communicable diseasescovid-19virus research

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Brian O'Roak

Professor of Molecular and Medical Genetics

Oregon Health & Science University

Affiliations

Division Of Genetics

Oregon Health & Science University

Oregon National Primate Research Center

Honors

Create free account to unlock more features

Experiences

Create free account to unlock more features

Education

Create free account to unlock more features

Brian O'Roak

Oregon Health & Science University

Professor of Molecular and Medical Genetics

You can click a keyword to filter the displayed items

Notable Scholarly Works

Notable Federal Grants

Collaborators

Detailed Phenotyping of Tbr1‐2A‐Creer Knock‐in Mice Demonstrates Significant Impacts on Tbr1 Protein Levels and Axon Development. Autism Research (2024)

Novel Recruitment Approaches and Operational Results for a Statewide Population Cohort for Cancer Research: The Healthy Oregon Project. Journal of Clinical and Translational Science (2024)

health communicationepidemiologyhealthy oregon projectclinical epidemiologyclinical populationscancer researchclinical researchhealth sciencesstatisticsstate-wide population cohort

Aerosol Delivery of Sars-Cov-2 Human Monoclonal Antibodies in Macaques Limits Viral Replication and Lung Pathology. Nature Communications (2023)

aerosol transportaerosol deliveryinfectious diseasesvirologyviral replicationlung pathologyimmunologyaerosol sciencerespiratory medicinesars-cov-2covid-19

Population Screening Shows Risk of Inherited Cancer and Familial Hypercholesterolemia in Oregon. The American Journal of Human Genetics (2023)

public healthepidemiologyclinical lipidologyinherited cancerpopulation healthcancer riskepidemiology of cancerlipid disordersgenetic epidemiologygenetic testingfamilial hypercholesterolemia

Cas12A-Capture: A Novel, Low-Cost, and Scalable Method for Targeted Sequencing. The CRISPR Journal (2022)

Integrated Gene Analyses of De Novo Variants From 46,612 Trios With Autism and Developmental Disorders. Proceedings of the National Academy of Sciences (2022)

biostatisticsgenomicsgene analysesgeneticshuman geneticsautism

Integrating De Novo and Inherited Variants in 42,607 Autism Cases Identifies Mutations in New Moderate-Risk Genes. Nature Genetics (2022)

inherited variantsgenomicsallelic variantgenetic variationmolecular geneticsgeneticshuman geneticsmedical geneticsautism

Shared and Distinct Functional Effects of Patient-Specific Tbr1 Mutations on Cortical Development. Journal of Neuroscience (2022)

High-Content Single-Cell Combinatorial Indexing. Nature Biotechnology (2021)

Ryan M. MulqueenDmitry PokholokBrendan L. O’ConnellCasey A. ThorntonFan ZhangBrian J. O’RoakJason LinkGalip Gürkan YardımcıRosalie C. SearsFrank J. SteemersAndrew C. Adey

Neutralization of Sars-Cov-2 Variants by Convalescent and Bnt162B2 Vaccinated Serum. Nature Communications (2021)

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