Publications
In Press
A novel Fanconi anemia subtype associated with a dominant-negative mutation in RAD51.. Nature Communications. .
In Press. |
2016
Discovery of a new repeat family in the Callithrix jacchus genome.. Genome Res. 26(5):649-59. .
2016. |
The Dfam database of repetitive DNA families.. Nucleic Acids Res. 44(D1):D81-9. .
2016. |
Parent-of-origin-specific signatures of de novo mutations.. Nat Genet. 48(8):935-9. .
2016. |
Genomic architecture of inflammatory bowel disease in five families with multiple affected individuals.. Hum Genome Var. 3:15060. .
2016. |
Personalized nutrition through big data.. Nat Biotechnol. 34(2):152-4. .
2016. |
2015
Identification of copy number variants in whole-genome data using Reference Coverage Profiles.. Front Genet. 6:45. .
2015. |
Rare variants in neuronal excitability genes influence risk for bipolar disorder.. Proc Natl Acad Sci U S A. 112(11):3576-81. .
2015. |