Publications
Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome. Am J Hum Genet. 2015 ;97(5):691-707.
. The phenotypic variability of HK1-associated retinal dystrophy. Sci Rep. 2017 ;7(1):7051.
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CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels. Genet Med. 2020 ;22(10):1633-1641.
. Comparative Genomic Analyses of the Human NPHP1 Locus Reveal Complex Genomic Architecture and Its Regional Evolution in Primates. PLoS Genet. 2015 ;11(12):e1005686.
. Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes. J Clin Invest. 2015 ;125(2):636-51.
. A new case of adult Acute Myeloid Leukemia with t(3;3)(p24;q26) [Internet]. Atlas Genet Cytogenet Oncol Haematol. 2017 . http://atlasgeneticsoncology.org/case-report/208889/a-new-case-of-adult-acute-myeloid-leukemia-with-t(3;3)(p24;q26)
. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 ;21(3):663-675.
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Metabolomics Identifies Novel Blood Biomarkers of Pulmonary Function and COPD in the General Population. Metabolites. 2019 ;9(4).
. The Consortium of Metabolomics Studies (COMETS): Metabolomics in 47 Prospective Cohort Studies. Am J Epidemiol. 2019 ;188(6):991-1012.
. Comment on "Ongoing adaptive evolution of ASPM, a brain size determinant in Homo sapiens". Science. 2007 ;316(5823):370.
. A bidirectional Mendelian randomization study supports causal effects of kidney function on blood pressure. Kidney Int. 2020 ;98(3):708-716.
. Association Between Midlife Obesity and Kidney Function Trajectories: The Atherosclerosis Risk in Communities (ARIC) Study. Am J Kidney Dis. 2021 ;77(3):376-385.
. Positive selection of a pre-expansion CAG repeat of the human SCA2 gene. PLoS Genet. 2005 ;1(3):e41.
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Whole genome sequence analysis of serum amino acid levels. Genome Biol. 2016 ;17(1):237.
. Serum metabolomic profiling and incident CKD among African Americans. Clin J Am Soc Nephrol. 2014 ;9(8):1410-7.
. Loss-of-function variants influence the human serum metabolome. Sci Adv. 2016 ;2(8):e1600800.
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Functional analysis of miR-34c as a putative tumor suppressor in high-grade serous ovarian cancer. Biol Reprod. 2014 ;91(5):113.
. Population genomic analysis of 962 whole genome sequences of humans reveals natural selection in non-coding regions. PLoS One. 2015 ;10(3):e0121644.
. Association of Rare Loss-Of-Function Alleles in HAL, Serum Histidine: Levels and Incident Coronary Heart Disease. Circ Cardiovasc Genet. 2015 ;8(2):351-5.
. Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension Risk. Circ Cardiovasc Genet. 2016 ;9(1):64-70.
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