Publications
Whole Exome Sequencing in Atrial Fibrillation. PLoS Genet. 2016 ;12(9):e1006284.
. Whole genome sequence analysis of serum amino acid levels. Genome Biol. 2016 ;17(1):237.
. The whole genome sequence of the Mediterranean fruit fly, Ceratitis capitata (Wiedemann), reveals insights into the biology and adaptive evolution of a highly invasive pest species. Genome Biol. 2016 ;17(1):192.
. Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis. Am J Hum Genet. 2016 ;99(2):481-8.
. Whole-Exome Sequencing in Familial Parkinson Disease. JAMA Neurol. 2016 ;73(1):68-75.
. 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.
. Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genet Med. 2017 ;19(1):13-19.
. Erratum to: The whole genome sequence of the Mediterranean fruit fly, Ceratitis capitata (Wiedemann), reveals insights into the biology and adaptive evolution of a highly invasive pest species. Genome Biol. 2017 ;18(1):11.
. Evolutionary History of Chemosensory-Related Gene Families across the Arthropoda. Mol Biol Evol. 2017 ;34(8):1838-1862.
. Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children. Obesity (Silver Spring). 2017 ;25(7):1270-1276.
. An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a mutation. Cold Spring Harb Mol Case Stud. 2017 ;3(2):a000984.
. Extremely low-coverage whole genome sequencing in South Asians captures population genomics information. BMC Genomics. 2017 ;18(1):396.
. Generating Clinical Reports from Genomic Data on the Cloud-based Neptune Platform [Internet]. Phoenix: ACMG Annual Clinical Genetics Meeting 2017; 2017. http://epostersonline.com/acmg2017/node/2480
. Germline mutations in ABL1 cause an autosomal dominant syndrome characterized by congenital heart defects and skeletal malformations. Nat Genet. 2017 ;49(4):613-617.
. The gut mycobiome of the Human Microbiome Project healthy cohort. Microbiome. 2017 ;5(1):153.
. Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort. Nucleic Acids Res. 2017 ;45(4):1633-1648.
. The house spider genome reveals an ancient whole-genome duplication during arachnid evolution. BMC Biol. 2017 ;15(1):62.
. Hybrid de novo genome assembly and centromere characterization of the gray mouse lemur (Microcebus murinus). BMC Biol. 2017 ;15(1):110.
. Improved full-length killer cell immunoglobulin-like receptor transcript discovery in Mauritian cynomolgus macaques. Immunogenetics. 2017 ;69(5):325-339.
. Lessons learned from additional research analyses of unsolved clinical exome cases. Genome Med. 2017 ;9(1):26.
. Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration. Neuron. 2017 ;93(1):115-131.
. Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. Am J Med Genet A. 2017 ;173(10):2789-2794.
. The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing. Genet Med. 2017 ;19(8):936-944.
. An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell. 2017 ;168(5):830-842.e7.
. Practical Approaches for Whole-Genome Sequence Analysis of Heart- and Blood-Related Traits. Am J Hum Genet. 2017 ;100(2):205-215.
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