Center-Authored Papers

Filters: Author is Boyle, Evan A  [Clear All Filters]
Journal Article
Chong JX, McMillin MJ, Shively KM, Beck AE, Marvin CT, Armenteros JR, Buckingham KJ, Nkinsi NT, Boyle EA, Berry MN et al..  2015.  De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay.. American journal of human genetics. 96(3):462-73. Abstract
Kumar A, Boyle EA, Tokita M, Mikheev AM, Sanger MC, Girard E, Silber JR, Gonzalez-Cuyar LF, Hiatt JB, Adey A et al..  2014.  Deep sequencing of multiple regions of glial tumors reveals spatial heterogeneity for mutations in clinically relevant genes.. Genome biology. 15(12):530. Abstract
Weren RDA, Ligtenberg MJL, Kets MC, de Voer RM, Verwiel ETP, Spruijt L, van Zelst-Stams WAG, Jongmans MC, Gilissen C, Hehir-Kwa JY et al..  2015.  A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer.. Nature genetics. Abstract
Fitzgerald LM, Kumar A, Boyle EA, Zhang Y, McIntosh LM, Kolb S, Stott-Miller M, Smith T, Karyadi DM, Ostrander EA et al..  2013.  Germline Missense Variants in the BTNL2 Gene Are Associated with Prostate Cancer Susceptibility.. Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology. 22(9):1520-8. Abstract
Bachmann-Gagescu R, Phelps IG, Dempsey JC, Sharma VA, Ishak GE, Boyle EA, Wilson M, Marques Lourenço C, Arslan M, Shendure J et al..  2015.  KIAA0586 is Mutated in Joubert Syndrome.. Human mutation. Abstract
D'Gama AM, Geng Y, Couto JA, Martin B, Boyle EA, LaCoursiere CM, Hossain A, Hatem NE, Barry BJ, Kwiatkowski DJ et al..  2015.  Mammalian target of rapamycin pathway mutations cause hemimegalencephaly and focal cortical dysplasia.. Annals of neurology. 77(4):720-5. Abstract
Boyle EA, O'Roak BJ, Martin BK, Kumar A, Shendure J.  2014.  MIPgen: Optimized Modeling and Design of Molecular Inversion Probes for Targeted Resequencing.. Bioinformatics (Oxford, England). Abstract
Wheway G, Schmidts M, Mans DA, Szymanska K, Nguyen T-MT, Racher H, Phelps IG, Toedt G, Kennedy J, Wunderlich KA et al..  2015.  An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes.. Nature cell biology. Abstract