45 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2019 Beighley JS, Hudac CM, Arnett AB, Peterson JL, Gerdts J, Wallace AS, Mefford HC, Hoekzema K, Turner TN, O'Roak BJ, Eichler EE, Bernier RA. Clinical Phenotypes of Carriers of Mutations in CHD8 or Its Conserved Target Genes. Biological Psychiatry. PMID 31526516 DOI: 10.1016/j.biopsych.2019.07.020  0.8
2019 Feliciano P, Zhou X, Astrovskaya I, Turner TN, Wang T, Brueggeman L, Barnard R, Hsieh A, Snyder LG, Muzny DM, Sabo A, Gibbs RA, Eichler EE, O'Roak BJ, et al. Exome sequencing of 457 autism families recruited online provides evidence for autism risk genes. Npj Genomic Medicine. 4: 19. PMID 31452935 DOI: 10.1038/s41525-019-0093-8  0.8
2018 Mulqueen RM, Pokholok D, Norberg SJ, Torkenczy KA, Fields AJ, Sun D, Sinnamon JR, Shendure J, Trapnell C, O'Roak BJ, Xia Z, Steemers FJ, Adey AC. Highly scalable generation of DNA methylation profiles in single cells. Nature Biotechnology. PMID 29644997 DOI: 10.1038/nbt.4112  0.8
2017 Krupp DR, Barnard RA, Duffourd Y, Evans SA, Mulqueen RM, Bernier R, Rivière JB, Fombonne E, O'Roak BJ. Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder. American Journal of Human Genetics. PMID 28867142 DOI: 10.1016/j.ajhg.2017.07.016  0.44
2015 Barnard RA, Pomaville MB, O'Roak BJ. Mutations and Modeling of the Chromatin Remodeler CHD8 Define an Emerging Autism Etiology. Frontiers in Neuroscience. 9: 477. PMID 26733790 DOI: 10.3389/fnins.2015.00477  1
2015 Schueler M, Halbritter J, Phelps IG, Braun DA, Otto EA, Porath JD, Gee HY, Shendure J, O'Roak BJ, Lawson JA, Nabhan MM, Soliman NA, Nabhan MM, Doherty D, Hildebrandt F. Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathies. Journal of Medical Genetics. PMID 26673778 DOI: 10.1136/jmedgenet-2015-103304  1
2015 Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, et al. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. Journal of Medical Genetics. PMID 26092869 DOI: 10.1136/jmedgenet-2015-103087  1
2015 Jansen LA, Mirzaa GM, Ishak GE, O'Roak BJ, Hiatt JB, Roden WH, Gunter SA, Christian SL, Collins S, Adams C, Rivière JB, St-Onge J, Ojemann JG, Shendure J, Hevner RF, et al. PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia. Brain : a Journal of Neurology. 138: 1613-28. PMID 25722288 DOI: 10.1093/brain/awv045  1
2015 Pino-Yanes M, Gignoux CR, Galanter JM, Levin AM, Campbell CD, Eng C, Huntsman S, Nishimura KK, Gourraud PA, Mohajeri K, O'Roak BJ, Hu D, Mathias RA, Nguyen EA, Roth LA, et al. Genome-wide association study and admixture mapping reveal new loci associated with total IgE levels in Latinos. The Journal of Allergy and Clinical Immunology. 135: 1502-10. PMID 25488688 DOI: 10.1016/j.jaci.2014.10.033  1
2014 Rehman AU, Santos-Cortez RL, Drummond MC, Shahzad M, Lee K, Morell RJ, Ansar M, Jan A, Wang X, Aziz A, Riazuddin S, Smith JD, Wang GT, Ahmed ZM, Gul K, et al. Challenges and solutions for gene identification in the presence of familial locus heterogeneity. European Journal of Human Genetics : Ejhg. PMID 25491636 DOI: 10.1038/ejhg.2014.266  1
2014 O'Roak BJ, Stessman HA, Boyle EA, Witherspoon KT, Martin B, Lee C, Vives L, Baker C, Hiatt JB, Nickerson DA, Bernier R, Shendure J, Eichler EE. Recurrent de novo mutations implicate novel genes underlying simplex autism risk. Nature Communications. 5: 5595. PMID 25418537 DOI: 10.1038/ncomms6595  1
2014 Iossifov I, O'Roak BJ, Sanders SJ, Ronemus M, Krumm N, Levy D, Stessman HA, Witherspoon KT, Vives L, Patterson KE, Smith JD, Paeper B, Nickerson DA, Dea J, Dong S, et al. The contribution of de novo coding mutations to autism spectrum disorder. Nature. 515: 216-21. PMID 25363768 DOI: 10.1038/nature13908  1
2014 Deriziotis P, O'Roak BJ, Graham SA, Estruch SB, Dimitropoulou D, Bernier RA, Gerdts J, Shendure J, Eichler EE, Fisher SE. De novo TBR1 mutations in sporadic autism disrupt protein functions. Nature Communications. 5: 4954. PMID 25232744 DOI: 10.1038/ncomms5954  1
2014 Coe BP, Witherspoon K, Rosenfeld JA, van Bon BW, Vulto-van Silfhout AT, Bosco P, Friend KL, Baker C, Buono S, Vissers LE, Schuurs-Hoeijmakers JH, Hoischen A, Pfundt R, Krumm N, Carvill GL, et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nature Genetics. 46: 1063-71. PMID 25217958 DOI: 10.1038/ng.3092  1
2014 Campbell CD, Mohajeri K, Malig M, Hormozdiari F, Nelson B, Du G, Patterson KM, Eng C, Torgerson DG, Hu D, Herman C, Chong JX, Ko A, O'Roak BJ, Krumm N, et al. Whole-genome sequencing of individuals from a founder population identifies candidate genes for asthma. Plos One. 9: e104396. PMID 25116239 DOI: 10.1371/journal.pone.0104396  1
2014 Bernier R, Golzio C, Xiong B, Stessman HA, Coe BP, Penn O, Witherspoon K, Gerdts J, Baker C, Vulto-van Silfhout AT, Schuurs-Hoeijmakers JH, Fichera M, Bosco P, Buono S, Alberti A, et al. Disruptive CHD8 mutations define a subtype of autism early in development. Cell. 158: 263-76. PMID 24998929 DOI: 10.1016/j.cell.2014.06.017  1
2014 Boyle EA, O'Roak BJ, Martin BK, Kumar A, Shendure J. MIPgen: optimized modeling and design of molecular inversion probes for targeted resequencing. Bioinformatics (Oxford, England). 30: 2670-2. PMID 24867941 DOI: 10.1093/bioinformatics/btu353  1
2014 Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Møller RS, Hjalgrim H, Cook J, Geraghty E, O'Roak BJ, Petrou S, Clarke A, Gill D, Sadleir LG, Muhle H, von Spiczak S, et al. GABRA1 and STXBP1: novel genetic causes of Dravet syndrome. Neurology. 82: 1245-53. PMID 24623842 DOI: 10.1212/WNL.0000000000000291  1
2014 Kircher M, Witten DM, Jain P, O'Roak BJ, Cooper GM, Shendure J. A general framework for estimating the relative pathogenicity of human genetic variants. Nature Genetics. 46: 310-5. PMID 24487276 DOI: 10.1038/ng.2892  1
2014 Krumm N, O'Roak BJ, Shendure J, Eichler EE. A de novo convergence of autism genetics and molecular neuroscience. Trends in Neurosciences. 37: 95-105. PMID 24387789 DOI: 10.1016/j.tins.2013.11.005  1
2014 Tuz K, Bachmann-Gagescu R, O'Day DR, Hua K, Isabella CR, Phelps IG, Stolarski AE, O'Roak BJ, Dempsey JC, Lourenco C, Alswaid A, Bönnemann CG, Medne L, Nampoothiri S, Stark Z, et al. Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. American Journal of Human Genetics. 94: 62-72. PMID 24360808 DOI: 10.1016/j.ajhg.2013.11.019  1
2014 He Z, O'Roak BJ, Smith JD, Wang G, Hooker S, Santos-Cortez RL, Li B, Kan M, Krumm N, Nickerson DA, Shendure J, Eichler EE, Leal SM. Rare-variant extensions of the transmission disequilibrium test: application to autism exome sequence data. American Journal of Human Genetics. 94: 33-46. PMID 24360806 DOI: 10.1016/j.ajhg.2013.11.021  1
2013 Krumm N, O'Roak BJ, Karakoc E, Mohajeri K, Nelson B, Vives L, Jacquemont S, Munson J, Bernier R, Eichler EE. Transmission disequilibrium of small CNVs in simplex autism. American Journal of Human Genetics. 93: 595-606. PMID 24035194 DOI: 10.1016/j.ajhg.2013.07.024  1
2013 Carvill GL, Regan BM, Yendle SC, O'Roak BJ, Lozovaya N, Bruneau N, Burnashev N, Khan A, Cook J, Geraghty E, Sadleir LG, Turner SJ, Tsai MH, Webster R, Ouvrier R, et al. GRIN2A mutations cause epilepsy-aphasia spectrum disorders. Nature Genetics. 45: 1073-6. PMID 23933818 DOI: 10.1038/ng.2727  1
2013 Nuttle X, Huddleston J, O'Roak BJ, Antonacci F, Fichera M, Romano C, Shendure J, Eichler EE. Rapid and accurate large-scale genotyping of duplicated genes and discovery of interlocus gene conversions. Nature Methods. 10: 903-9. PMID 23892896 DOI: 10.1038/nmeth.2572  1
2013 Carvill GL, Heavin SB, Yendle SC, McMahon JM, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver M, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, et al. Targeted resequencing in epileptic encephalopathies identifies de novo mutations in CHD2 and SYNGAP1. Nature Genetics. 45: 825-30. PMID 23708187 DOI: 10.1038/ng.2646  1
2013 Hiatt JB, Pritchard CC, Salipante SJ, O'Roak BJ, Shendure J. Single molecule molecular inversion probes for targeted, high-accuracy detection of low-frequency variation. Genome Research. 23: 843-54. PMID 23382536 DOI: 10.1101/gr.147686.112  1
2012 O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, et al. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (New York, N.Y.). 338: 1619-22. PMID 23160955 DOI: 10.1126/science.1227764  1
2012 Campbell CD, Chong JX, Malig M, Ko A, Dumont BL, Han L, Vives L, O'Roak BJ, Sudmant PH, Shendure J, Abney M, Ober C, Eichler EE. Estimating the human mutation rate using autozygosity in a founder population. Nature Genetics. 44: 1277-81. PMID 23001126 DOI: 10.1038/ng.2418  1
2012 Rivière JB, Mirzaa GM, O'Roak BJ, Beddaoui M, Alcantara D, Conway RL, St-Onge J, Schwartzentruber JA, Gripp KW, Nikkel SM, Worthylake T, Sullivan CT, Ward TR, Butler HE, Kramer NA, et al. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes. Nature Genetics. 44: 934-40. PMID 22729224 DOI: 10.1038/ng.2331  1
2012 Krumm N, Sudmant PH, Ko A, O'Roak BJ, Malig M, Coe BP, Quinlan AR, Nickerson DA, Eichler EE. Copy number variation detection and genotyping from exome sequence data. Genome Research. 22: 1525-32. PMID 22585873 DOI: 10.1101/gr.138115.112  1
2012 O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, et al. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature. 485: 246-50. PMID 22495309 DOI: 10.1038/nature10989  1
2012 Rivière JB, van Bon BW, Hoischen A, Kholmanskikh SS, O'Roak BJ, Gilissen C, Gijsen S, Sullivan CT, Christian SL, Abdul-Rahman OA, Atkin JF, Chassaing N, Drouin-Garraud V, Fry AE, Fryns JP, et al. De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nature Genetics. 44: 440-4, S1-2. PMID 22366783 DOI: 10.1038/ng.1091  1
2012 Karakoc E, Alkan C, O'Roak BJ, Dennis MY, Vives L, Mark K, Rieder MJ, Nickerson DA, Eichler EE. Detection of structural variants and indels within exome data. Nature Methods. 9: 176-8. PMID 22179552 DOI: 10.1038/nmeth.1810  1
2012 O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, MacKenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, et al. Corrigendum: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations (Nature Genetics (2011) 43, (585-589)) Nature Genetics. 44: 471. DOI: 10.1038/ng0412-471  1
2011 Sanders SJ, Ercan-Sencicek AG, Hus V, Luo R, Murtha MT, Moreno-De-Luca D, Chu SH, Moreau MP, Gupta AR, Thomson SA, Mason CE, Bilguvar K, Celestino-Soper PB, Choi M, Crawford EL, et al. Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism. Neuron. 70: 863-85. PMID 21658581 DOI: 10.1016/j.neuron.2011.05.002  1
2011 O'Roak BJ, Deriziotis P, Lee C, Vives L, Schwartz JJ, Girirajan S, Karakoc E, Mackenzie AP, Ng SB, Baker C, Rieder MJ, Nickerson DA, Bernier R, Fisher SE, Shendure J, et al. Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nature Genetics. 43: 585-9. PMID 21572417 DOI: 10.1038/ng.835  1
2010 Ercan-Sencicek AG, Stillman AA, Ghosh AK, Bilguvar K, O'Roak BJ, Mason CE, Abbott T, Gupta A, King RA, Pauls DL, Tischfield JA, Heiman GA, Singer HS, Gilbert DL, Hoekstra PJ, et al. L-histidine decarboxylase and Tourette's syndrome. The New England Journal of Medicine. 362: 1901-8. PMID 20445167 DOI: 10.1056/NEJMoa0907006  1
2010 O'Roak BJ, Morgan TM, Fishman DO, Saus E, Alonso P, Gratacòs M, Estivill X, Teltsh O, Kohn Y, Kidd KK, Cho J, Lifton RP, State MW. Additional support for the association of SLITRK1 var321 and Tourette syndrome. Molecular Psychiatry. 15: 447-50. PMID 20351724 DOI: 10.1038/mp.2009.105  1
2008 O'Roak BJ, State MW. Autism genetics: strategies, challenges, and opportunities. Autism Research : Official Journal of the International Society For Autism Research. 1: 4-17. PMID 19360646 DOI: 10.1002/aur.3  1
2008 Ji W, Foo JN, O'Roak BJ, Zhao H, Larson MG, Simon DB, Newton-Cheh C, State MW, Levy D, Lifton RP. Rare independent mutations in renal salt handling genes contribute to blood pressure variation. Nature Genetics. 40: 592-9. PMID 18391953 DOI: 10.1038/ng.118  1
2008 Bakkaloglu B, O'Roak BJ, Louvi A, Gupta AR, Abelson JF, Morgan TM, Chawarska K, Klin A, Ercan-Sencicek AG, Stillman AA, Tanriover G, Abrahams BS, Duvall JA, Robbins EM, Geschwind DH, et al. Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders. American Journal of Human Genetics. 82: 165-73. PMID 18179895 DOI: 10.1016/j.ajhg.2007.09.017  1
2008 Speed WC, O'Roak BJ, Tárnok Z, Barta C, Pakstis AJ, State MW, Kidd KK. Haplotype evolution of SLITRK1, a candidate gene for Gilles de la Tourette syndrome. American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics. 147: 463-6. PMID 18004766 DOI: 10.1002/ajmg.b.30641  1
2005 Guclu B, Ozturk AK, Pricola KL, Bilguvar K, Shin D, O'Roak BJ, Gunel M. Mutations in apoptosis-related gene, PDCD10, cause cerebral cavernous malformation 3. Neurosurgery. 57: 1008-13. PMID 16284570 DOI: 10.1227/01.NEU.0000180811.56157.E1  1
2005 Abelson JF, Kwan KY, O'Roak BJ, Baek DY, Stillman AA, Morgan TM, Mathews CA, Pauls DL, Rasin MR, Gunel M, Davis NR, Ercan-Sencicek AG, Guez DH, Spertus JA, Leckman JF, et al. Sequence variants in SLITRK1 are associated with Tourette's syndrome. Science (New York, N.Y.). 310: 317-20. PMID 16224024 DOI: 10.1126/science.1116502  1
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