Publications
A physical map of the human genome. Nature. 2001 ;409(6822):934-41.
. Phylogenomic analysis reveals bees and wasps (Hymenoptera) at the base of the radiation of Holometabolous insects. Genome Res. 2006 ;16(11):1334-8.
. The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A. 2018 ;176(6):1315-1326.
. Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation. JIMD Rep. 2016 ;26:7-12.
. Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Hum Mutat. 2020 ;41(12):2094-2104.
. Phenotypic expansion in - a common cause of intellectual disability in females. Ann Clin Transl Neurol. 2018 ;5(10):1277-1285.
. Phenotypic expansion illuminates multilocus pathogenic variation. Genet Med. 2018 ;20(12):1528-1537.
. Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. Hum Mutat. 2021 ;42(5):577-591.
. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Hum Mutat. 2022 ;43(7):900-918.
. Pharmacogenomics of statin-related myopathy: Meta-analysis of rare variants from whole-exome sequencing. PLoS One. 2019 ;14(6):e0218115.
. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet. 2014 ;95(1):96-107.
. Personalized copy number and segmental duplication maps using next-generation sequencing. Nat Genet. 2009 ;41(10):1061-7.
. Pentanucleotide repeat length polymorphism at the human CD4 locus. Nucleic Acids Res. 1991 ;19(17):4791.
. PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies. Pediatr Neurol. 2016 ;60:83-7.
. PDX-1 is a therapeutic target for pancreatic cancer, insulinoma and islet neoplasia using a novel RNA interference platform. PLoS One. 2012 ;7(8):e40452.
. PDX-1: demonstration of oncogenic properties in pancreatic cancer. Cancer. 2011 ;117(4):723-33.
. PDX-1 acts as a potential molecular target for treatment of human pancreatic cancer. Pancreas. 2008 ;37(2):210-20.
. PCR test for cystic fibrosis deletion. Nature. 1990 ;343(6255):220.
. PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia. Nat Commun. 2020 ;11(1):5903.
. Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature. 2012 ;485(7397):242-5.
. Patient and Clinician Perceptions of Precision Cardiology Care: Findings From the HeartCare Study. Circ Genom Precis Med. 2022 ;15(6):e003605.
. Parliament2: Accurate structural variant calling at scale. Gigascience. 2020 ;9(12).
. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 ;105(2):302-316.
. Pancreatic cancer genomes reveal aberrations in axon guidance pathway genes. Nature. 2012 ;491(7424):399-405.
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