Publications
Demographic history and rare allele sharing among human populations. Proc Natl Acad Sci U S A. 2011 ;108(29):11983-8.
. An integrated map of genetic variation from 1,092 human genomes. Nature. 2012 ;491(7422):56-65.
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Stress, genomes, and evolution. Cell Stress Chaperones. 2010 ;15(5):463-6.
. Hsp90 modulates CAG repeat instability in human cells. Cell Stress Chaperones. 2010 ;15(5):753-9.
. Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes. Nature. 2012 ;483(7387):82-6.
. NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. Exp Eye Res. 2018 ;173:32-43.
. Corner fracture type spondylometaphyseal dysplasia: Overlap with type II collagenopathies. Am J Med Genet A. 2017 ;173(3):733-739.
. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel-Feil syndrome. Am J Med Genet A. 2015 ;167A(11):2795-9.
. A biallelic ANTXR1 variant expands the anthrax toxin receptor associated phenotype to tooth agenesis. Am J Med Genet A. 2018 ;176(4):1015-1022.
. A baboon (Papio hamadryas) with an isochromosome for the long arm of the X. Cytogenet Cell Genet. 1998 ;82(1-2):80-2.
. Fibular aplasia, tibial campomelia, and oligosyndactyly: a further patient with a 2-year follow-up. Clin Dysmorphol. 2014 ;23(4):121-6.
. TBX6 missense variants expand the mutational spectrum in a non-Mendelian inheritance disease. Hum Mutat. 2020 ;41(1):182-195.
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Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs. Am J Med Genet A. 2016 ;170(9):2440-4.
. Cloning and functional expression of the hNPY Y5 receptor in human endometrial cancer (HEC-1B) cells. Can J Physiol Pharmacol. 2000 ;78(2):134-42.
. Serotonin transporter binding and genotype in the nonhuman primate brain using [C-11]DASB PET. Neuroimage. 2009 ;47(4):1230-6.
. Loss of Rho GDIα and resistance to tamoxifen via effects on estrogen receptor α. J Natl Cancer Inst. 2011 ;103(7):538-52.
. Variants, N-Acetylated Amino Acids, and Progression of CKD. Clin J Am Soc Nephrol. 2020 ;16(1):37-47.
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The Matchmaker Exchange: a platform for rare disease gene discovery. Hum Mutat. 2015 ;36(10):915-21.
. Clinical genomics and contextualizing genome variation in the diagnostic laboratory. Expert Rev Mol Diagn. 2020 ;20(10):995-1002.
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A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers. Cell. 2019 ;177(1):32-37.
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