Publications
A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases. Cell. 2014 ;159(1):200-214.
. A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet. 1994 ;7(4):497-501.
. The Drosophila melanogaster Genetic Reference Panel. Nature. 2012 ;482(7384):173-8.
. Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21. Genomics. 1993 ;16(2):407-16.
. Yeast artificial chromosome cloning in the glycerol kinase and adrenal hypoplasia congenita region of Xp21. Genomics. 1993 ;16(2):407-16.
. Genomic scanning for expressed sequences in Xp21 identifies the glycerol kinase gene. Nat Genet. 1993 ;4(4):367-72.
. A comparative transcription map of the murine bare patches (Bpa) and striated (Str) critical regions and human Xq28. Genome Res. 1996 ;6(6):465-77.
. The sheep genome illuminates biology of the rumen and lipid metabolism. Science. 2014 ;344(6188):1168-1173.
. The sheep genome illuminates biology of the rumen and lipid metabolism. Science. 2014 ;344(6188):1168-1173.
. The sheep genome illuminates biology of the rumen and lipid metabolism. Science. 2014 ;344(6188):1168-1173.
. Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. Am J Med Genet A. 2020 ;182(6):1387-1399.
. Functional and evolutionary insights from the genomes of three parasitoid Nasonia species. Science. 2010 ;327(5963):343-8.
. Functional and evolutionary insights from the genomes of three parasitoid Nasonia species. Science. 2010 ;327(5963):343-8.
. Functional and evolutionary insights from the genomes of three parasitoid Nasonia species. Science. 2010 ;327(5963):343-8.
. Genetic Mechanisms of Immune Evasion in Colorectal Cancer. Cancer Discov. 2018 ;8(6):730-749.
. Genetic Mechanisms of Immune Evasion in Colorectal Cancer. Cancer Discov. 2018 ;8(6):730-749.
. Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis. Genet Med. 2016 ;18(11):1158-1162.
. Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A. 2021 ;185(12):3593-3600.
. Genomic Profiling of Childhood Tumor Patient-Derived Xenograft Models to Enable Rational Clinical Trial Design. Cell Rep. 2019 ;29(6):1675-1689.e9.
. Genomic Profiling of Childhood Tumor Patient-Derived Xenograft Models to Enable Rational Clinical Trial Design. Cell Rep. 2019 ;29(6):1675-1689.e9.
. Genomic Profiling of Childhood Tumor Patient-Derived Xenograft Models to Enable Rational Clinical Trial Design. Cell Rep. 2019 ;29(6):1675-1689.e9.
. Genomic Profiling of Childhood Tumor Patient-Derived Xenograft Models to Enable Rational Clinical Trial Design. Cell Rep. 2019 ;29(6):1675-1689.e9.
. The DNA sequence of human chromosome 7. Nature. 2003 ;424(6945):157-64.
. Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A. 2021 ;185(12):3593-3600.
. Inherited causes of clonal haematopoiesis in 97,691 whole genomes. Nature. 2020 ;586(7831):763-768.
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