Publications
The genetic determinants of recurrent somatic mutations in 43,693 blood genomes. Sci Adv. 2023 ;9(17):eabm4945.
. Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple Diseases. JAMA Oncol. 2022 ;8(6):835-844.
. Clinical and molecular features of pediatric cancer patients with Lynch syndrome. Pediatr Blood Cancer. 2022 ;69(11):e29859.
. Examining the Effects of Hibernation on Germline Mutation Rates in Grizzly Bears. Genome Biol Evol. 2022 ;14(10).
. Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children's Oncology Group. J Natl Cancer Inst. 2021 ;113(7):875-883.
. Population sequencing data reveal a compendium of mutational processes in the human germ line. Science. 2021 ;373(6558):1030-1035.
. Ancestry-specific predisposing germline variants in cancer. Genome Med. 2020 ;12(1):51.
. Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature. 2020 ;586(7831):763-768.
. Paternal age in rhesus macaques is positively associated with germline mutation accumulation but not with measures of offspring sociability. Genome Res. 2020 ;30(6):826-834.
. A robust benchmark for detection of germline large deletions and insertions. Nat Biotechnol. 2020 ;38(11):1347-1355.
. Framework for microRNA variant annotation and prioritization using human population and disease datasets. Hum Mutat. 2019 ;40(1):73-89.
. Elucidating the molecular pathogenesis of glioma: integrated germline and somatic profiling of a familial glioma case series. Neuro Oncol. 2018 ;20(12):1625-1633.
. Genetic Mechanisms of Immune Evasion in Colorectal Cancer. Cancer Discov. 2018 ;8(6):730-749.
. Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nat Genet. 2017 ;49(4):613-617.
. Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencing. Eur J Hum Genet. 2017 ;25(11):1246-1252.
. Whole-genome landscape of pancreatic neuroendocrine tumours. Nature. 2017 ;543(7643):65-71.
. Coexistence of gain-of-function JAK2 germ line mutations with JAK2V617F in polycythemia vera. Blood. 2016 ;128(18):2266-2270.
. Germline or somatic GPR101 duplication leads to X-linked acrogigantism: a clinico-pathological and genetic study. Acta Neuropathol Commun. 2016 ;4(1):56.
. Whole-exome sequencing reveals an inherited R566X mutation of the epithelial sodium channel β-subunit in a case of early-onset phenotype of Liddle syndrome. Cold Spring Harb Mol Case Stud. 2016 ;2(6):a001255.
. Germline mutations in shelterin complex genes are associated with familial glioma. J Natl Cancer Inst. 2015 ;107(1):384.
. Response. J Natl Cancer Inst. 2015 ;107(8).
. Germline rearrangements in families with strong family history of glioma and malignant melanoma, colon, and breast cancer. Neuro Oncol. 2014 ;16(10):1333-40.
. Novel somatic and germline mutations in intracranial germ cell tumours. Nature. 2014 ;511(7508):241-5.
. Parent of origin, mosaicism, and recurrence risk: probabilistic modeling explains the broken symmetry of transmission genetics. Am J Hum Genet. 2014 ;95(4):345-59.
. Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am J Hum Genet. 2014 ;95(2):173-82.
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