Publications
A dosage sensitive locus at chromosome Xp21 is involved in male to female sex reversal. Nat Genet. 1994 ;7(4):497-501.
. Multiplex PCR: advantages, development, and applications. PCR Methods Appl. 1994 ;3(4):S65-75.
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Cloning and characterization of the region III flagellar operons of the four Shigella subgroups: genetic defects that cause loss of flagella of Shigella boydii and Shigella sonnei. J Bacteriol. 1997 ;179(14):4493-500.
. Isolation and characterization of the platelet-derived growth factor beta receptor promoter. Dev Dyn. 1997 ;208(2):211-9.
. Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum Mol Genet. 1997 ;6(3):479-86.
. Characterization of fsr, a regulator controlling expression of gelatinase and serine protease in Enterococcus faecalis OG1RF. J Bacteriol. 2001 ;183(11):3372-82.
. A simple model host for identifying Gram-positive virulence factors. Proc Natl Acad Sci U S A. 2001 ;98(19):10892-7.
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Strict evolutionary conservation followed rapid gene loss on human and rhesus Y chromosomes. Nature. 2012 ;483(7387):82-6.
. Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles. Genome Res. 2013 ;23(9):1383-94.
. Evidence for replicative mechanism in a CHD7 rearrangement in a patient with CHARGE syndrome. Am J Med Genet A. 2013 ;161A(12):3182-6.
. Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders. Neuron. 2013 ;77(2):235-42.
. PBHoney: identifying genomic variants via long-read discordance and interrupted mapping. BMC Bioinformatics. 2014 ;15:180.
. Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina. Hum Mol Genet. 2015 ;24(6):1584-601.
. Genetic Variants in LRP1 and ULK4 Are Associated with Acute Aortic Dissections. Am J Hum Genet. 2016 ;99(3):762-769.
. Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy. Hum Genet. 2016 ;135(10):1161-74.
. Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations. Am J Hum Genet. 2016 ;98(2):347-57.
. CHRNA7 Deletions are Enriched in Risperidone-Treated Children and Adolescents. J Child Adolesc Psychopharmacol. 2017 ;27(10):908-915.
. De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2017 ;100(2):352-363.
. The SWI/SNF Protein PBRM1 Restrains VHL-Loss-Driven Clear Cell Renal Cell Carcinoma. Cell Rep. 2017 ;18(12):2893-2906.
. Discovery and population genomics of structural variation in a songbird genus. Nat Commun. 2020 ;11(1):3403.
. Complicated Diagnosis and Treatment of HA20 due to Contiguous Gene Deletions involving 6q23.3. J Clin Immunol. 2021 ;41(6):1420-1423.
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