| Year |
Citation |
Score |
| 2023 |
O'Brien TD, Potter AB, Driscoll CC, Goh G, Letaw JH, McCabe S, Thanner J, Kulkarni A, Wong R, Medica S, Week T, Buitrago J, Larson A, Camacho KJ, Brown K, et al. Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon. American Journal of Human Genetics. PMID 37506692 DOI: 10.1016/j.ajhg.2023.06.014 |
0.646 |
|
| 2022 |
Zhou X, Feliciano P, Shu C, Wang T, Astrovskaya I, Hall JB, Obiajulu JU, Wright JR, Murali SC, Xu SX, Brueggeman L, Thomas TR, Marchenko O, Fleisch C, Barns SD, et al. Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes. Nature Genetics. PMID 35982159 DOI: 10.1038/s41588-022-01148-2 |
0.559 |
|
| 2022 |
Co M, Barnard RA, Jahncke JN, Grindstaff S, Fedorov LM, Adey AC, Wright KM, O'Roak BJ. Shared and distinct functional effects of patient-specific mutations on cortical development. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. PMID 35944998 DOI: 10.1523/JNEUROSCI.0409-22.2022 |
0.808 |
|
| 2022 |
Mighell TL, Nishida A, O'Connell BL, Miller CV, Grindstaff S, Thornton CA, Adey AC, Doherty D, O'Roak BJ. Cas12a-Capture: A Novel, Low-Cost, and Scalable Method for Targeted Sequencing. The Crispr Journal. PMID 35833801 DOI: 10.1089/crispr.2021.0140 |
0.63 |
|
| 2021 |
Bates TA, Leier HC, Lyski ZL, McBride SK, Coulter FJ, Weinstein JB, Goodman JR, Lu Z, Siegel SAR, Sullivan P, Strnad M, Brunton AE, Lee DX, Adey AC, Bimber BN, et al. Neutralization of SARS-CoV-2 variants by convalescent and BNT162b2 vaccinated serum. Nature Communications. 12: 5135. PMID 34446720 DOI: 10.1038/s41467-021-25479-6 |
0.567 |
|
| 2021 |
Mulqueen RM, Pokholok D, O'Connell BL, Thornton CA, Zhang F, O'Roak BJ, Link J, Yardımcı GG, Sears RC, Steemers FJ, Adey AC. High-content single-cell combinatorial indexing. Nature Biotechnology. PMID 34226710 DOI: 10.1038/s41587-021-00962-z |
0.612 |
|
| 2020 |
Mighell TL, Thacker S, Fombonne E, Eng C, O'Roak BJ. An Integrated Deep-Mutational-Scanning Approach Provides Clinical Insights on PTEN Genotype-Phenotype Relationships. American Journal of Human Genetics. PMID 32442409 DOI: 10.1016/J.Ajhg.2020.04.014 |
0.302 |
|
| 2020 |
Chevarin M, Duffourd Y, A Barnard R, Moutton S, Lecoquierre F, Daoud F, Kuentz P, Cabret C, Thevenon J, Gautier E, Callier P, St-Onge J, Jouan T, Lacombe D, Delrue MA, et al. Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability. Journal of Medical Genetics. PMID 32277047 DOI: 10.1136/Jmedgenet-2019-106425 |
0.47 |
|
| 2020 |
Fombonne E, Goin-Kochel RP, O'Roak BJ. Beliefs in vaccine as causes of autism among SPARK cohort caregivers. Vaccine. PMID 31924427 DOI: 10.1016/J.Vaccine.2019.12.026 |
0.306 |
|
| 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 |
0.745 |
|
| 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 |
0.641 |
|
| 2018 |
Mighell TL, Evans-Dutson S, O'Roak BJ. A Saturation Mutagenesis Approach to Understanding PTEN Lipid Phosphatase Activity and Genotype-Phenotype Relationships. American Journal of Human Genetics. 102: 943-955. PMID 29706350 DOI: 10.1016/j.ajhg.2018.03.018 |
0.427 |
|
| 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 |
0.693 |
|
| 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 |
0.813 |
|
| 2016 |
Chahrour M, O'Roak BJ, Santini E, Samaco RC, Kleiman RJ, Manzini MC. Current Perspectives in Autism Spectrum Disorder: From Genes to Therapy. The Journal of Neuroscience : the Official Journal of the Society For Neuroscience. 36: 11402-11410. PMID 27911742 DOI: 10.1523/Jneurosci.2335-16.2016 |
0.417 |
|
| 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 |
0.544 |
|
| 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 |
0.594 |
|
| 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 |
0.603 |
|
| 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 |
0.771 |
|
| 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 |
0.641 |
|
| 2015 |
Bachmann-Gagescu R, Dempsey J, Phelps I, Isabella C, O'Day D, O'Roak B, Shendure J, Glass I, Doherty D. Genotype-Phenotype correlations in Joubert Syndrome in the Era of Next Generation Sequencing Cilia. 4. DOI: 10.1186/2046-2530-4-S1-P8 |
0.624 |
|
| 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 |
0.834 |
|
| 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 |
0.818 |
|
| 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 |
0.726 |
|
| 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 |
0.821 |
|
| 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 |
0.817 |
|
| 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 |
0.84 |
|
| 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 |
0.578 |
|
| 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 |
0.765 |
|
| 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 |
0.725 |
|
| 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 |
0.803 |
|
| 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 |
0.596 |
|
| 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 |
0.786 |
|
| 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. Erratum: Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without jeune asphyxiating thoracic dystrophy (American Journal of Human Genetics (2014) 94 (62-72)) American Journal of Human Genetics. 94. DOI: 10.1016/J.Ajhg.2014.01.003 |
0.617 |
|
| 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 |
0.829 |
|
| 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 |
0.705 |
|
| 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 |
0.814 |
|
| 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 |
0.766 |
|
| 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 |
0.798 |
|
| 2013 |
Carvill GL, Heavin SB, Yendle SC, O'Roak BJ, Cook J, Khan A, Dorschner MO, Weaver MA, Calvert S, Malone S, Wallace G, Stanley T, Bye AM, Bleasel A, Howell KB, et al. Targeted resequencing in epileptic encephalopathies reveals marked genetic heterogeneity and novel genes Epilepsia. 54: 16-16. DOI: 10.1111/Epi.12228 |
0.589 |
|
| 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 |
0.827 |
|
| 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 |
0.817 |
|
| 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 |
0.669 |
|
| 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 |
0.807 |
|
| 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 |
0.834 |
|
| 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 |
0.707 |
|
| 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 |
0.78 |
|
| 2012 |
Kumar A, MacKenzie AP, O'Roak BJ, Coleman I, Morrissey C, Lee C, White TA, Dumpit RF, True LD, Corey E, Vessella RL, Nelson PS, Shendure J. Abstract 5059: Exome and targeted sequencing to discover and validate candidate genes in advanced and lethal prostate cancer Cancer Research. 72: 5059-5059. DOI: 10.1158/1538-7445.Am2012-5059 |
0.678 |
|
| 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 |
0.836 |
|
| 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 |
0.794 |
|
| 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 |
0.852 |
|
| 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 |
0.797 |
|
| 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 |
0.748 |
|
| 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 |
0.696 |
|
| 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 |
0.73 |
|
| 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 |
0.831 |
|
| 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 |
0.709 |
|
| 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 |
0.521 |
|
| 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 |
0.811 |
|
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