Publications
Core planar cell polarity genes and in predisposition to congenital vertebral malformations. Proc Natl Acad Sci U S A. 2024 ;121(18):e2310283121.
. Absent B cells, agammaglobulinemia, and hypertrophic cardiomyopathy in folliculin-interacting protein 1 deficiency. Blood. 2021 ;137(4):493-499.
. . Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation. Am J Med Genet A. 2020 ;182(6):1387-1399.
. Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. Genet Med. 2019 ;21(3):663-675.
. Delineating the expanding phenotype associated with SCAPER gene mutation. Am J Med Genet A. 2019 ;179(8):1665-1671.
. SPATA7 maintains a novel photoreceptor-specific zone in the distal connecting cilium. J Cell Biol. 2018 ;217(8):2851-2865.
. Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. Hum Genet. 2017 ;136(4):377-386.
. Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails. J Hum Genet. 2017 ;62(4):465-471.
. PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment. Brain. 2017 ;140(4):940-952.
. Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability. Am J Hum Genet. 2016 ;98(1):202-9.
. Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern. Hum Mutat. 2016 ;37(8):804-11.
. Mutations in human IFT140 cause non-syndromic retinal degeneration. Hum Genet. 2015 ;134(10):1069-78.
. Transethnic meta-analysis suggests genetic variation in the HEME pathway influences potassium response in patients treated with hydrochlorothiazide. Pharmacogenomics J. 2015 ;15(2):153-7.
. . The genetic basis of DOORS syndrome: an exome-sequencing study. Lancet Neurol. 2014 ;13(1):44-58.
. Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease. PLoS One. 2014 ;9(6):e94661.
. Common and rare variants of DAOA in bipolar disorder. Am J Med Genet B Neuropsychiatr Genet. 2009 ;150B(7):960-6.
. Complete genome sequence of citrus huanglongbing bacterium, 'Candidatus Liberibacter asiaticus' obtained through metagenomics. Mol Plant Microbe Interact. 2009 ;22(8):1011-20.
. Mutation survey of known LCA genes and loci in the Saudi Arabian population. Invest Ophthalmol Vis Sci. 2009 ;50(3):1336-43.
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Consistent effects of genes involved in reverse cholesterol transport on plasma lipid and apolipoprotein levels in CARDIA participants. Arterioscler Thromb Vasc Biol. 2006 ;26(8):1828-36.
. Genetic diversity among type emm28 group A Streptococcus strains causing invasive infections and pharyngitis. J Clin Microbiol. 2005 ;43(8):4083-91.
. Pharmacogenetics of response to statins: where do we stand?. Curr Atheroscler Rep. 2005 ;7(3):204-8.
. Polymorphisms at the G72/G30 gene locus, on 13q33, are associated with bipolar disorder in two independent pedigree series. Am J Hum Genet. 2003 ;72(5):1131-40.
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