Publications
Draft genome sequences and description of Lactobacillus rhamnosus strains L31, L34, and L35. Stand Genomic Sci. 2014 ;9(3):744-54.
. Incidental copy-number variants identified by routine genome testing in a clinical population. Genet Med. 2013 ;15(1):45-54.
. Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res. 2013 ;23(9):1383-94.
. Hutterite-type cataract maps to chromosome 6p21.32-p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death. Mol Genet Genomic Med. 2016 ;4(1):77-94.
. The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. Am J Hum Genet. 2014 ;95(2):143-61.
. Haplotypes at ATM identify coding-sequence variation and indicate a region of extensive linkage disequilibrium. Am J Hum Genet. 2000 ;67(6):1437-51.
. Haplotype and linkage disequilibrium architecture for human cancer-associated genes. Genome Res. 2002 ;12(12):1846-53.
. Evaluating potential for whole-genome studies in Kosrae, an isolated population in Micronesia. Nat Genet. 2006 ;38(2):214-7.
. European admixture on the Micronesian island of Kosrae: lessons from complete genetic information. Eur J Hum Genet. 2010 ;18(3):309-16.
. Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance. Am J Hum Genet. 2013 ;93(3):471-81.
. Investigation of the conformation of lactate dehydrogenase and of its catalytic activity. Biochim Biophys Acta. 1967 ;132(2):271-81.
. SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability. Am J Hum Genet. 2023 ;110(5):790-808.
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Rare Variants in Genes Encoding Subunits of the Epithelial Na Channel Are Associated With Blood Pressure and Kidney Function. Hypertension. 2022 ;79(11):2573-2582.
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Novel patient-derived xenograft and cell line models for therapeutic testing of pediatric liver cancer. J Hepatol. 2016 ;65(2):325-33.
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Whole exome sequencing study identifies novel rare and common Alzheimer's-Associated variants involved in immune response and transcriptional regulation. Mol Psychiatry. 2020 ;25(8):1859-1875.
. . Genome-Wide Analysis of Structural Variants in Parkinson Disease. Ann Neurol. 2023 ;93(5):1012-1022.
. Cohort Profile: The Right Drug, Right Dose, Right Time: Using Genomic Data to Individualize Treatment Protocol (RIGHT Protocol). Int J Epidemiol. 2020 ;49(1):23-24k.
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Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature. 2020 ;586(7831):763-768.
. Author Correction: Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature. 2021 ;591(7851):E27.
. Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature. 2012 ;491(7424):399-405.
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