Publications
Novel CYP2A6 diplotypes identified through next-generation sequencing are associated with in-vitro and in-vivo nicotine metabolism. Pharmacogenet Genomics. 2018 ;28(1):7-16.
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A novel beta-thalassaemia mutation in the 5' untranslated region of the beta-globin gene. Br J Haematol. 1994 ;88(2):307-10.
. Novel Anaplastic Thyroid Cancer PDXs and Cell Lines: Expanding Preclinical Models of Genetic Diversity. J Clin Endocrinol Metab. 2021 ;106(11):e4652-e4665.
. Notch activation as a driver of osteogenic sarcoma. Cancer Cell. 2014 ;26(3):390-401.
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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.
. A non-mosaic mutation in a male with severe congenital anomalies overlapping focal dermal hypoplasia. Mol Genet Metab Rep. 2017 ;12:57-61.
. . Nonhuman primates as models for studies of prostate specific antigen and prostatic diseases. Prostate. 2008 ;68(14):1546-54.
. A nonhuman primate model of inherited retinal disease. J Clin Invest. 2019 ;129(2):863-874.
. Noncoding mutation in contributes to inherited retinal degenerations. Mol Vis. 2021 ;27:95-106.
. Non-coding genetic variants in human disease. Hum Mol Genet. 2015 ;24(R1):R102-10.
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NMNAT1 E257K variant, associated with Leber Congenital Amaurosis (LCA9), causes a mild retinal degeneration phenotype. Exp Eye Res. 2018 ;173:32-43.
. NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. Hum Mol Genet. 2021 ;29(21):3516-3531.
. Niacin therapy improves outcome and normalizes metabolic abnormalities in an NAXD-deficient patient. Brain. 2022 ;145(5):e36-e40.
. NGS-based Molecular diagnosis of 105 eyeGENE(®) probands with Retinitis Pigmentosa. Sci Rep. 2015 ;5:18287.
. NF-κB and STAT3 co-operation enhances high glucose induced aggressiveness of cholangiocarcinoma cells. Life Sci. 2020 ;262:118548.
. NextGenMap: fast and accurate read mapping in highly polymorphic genomes. Bioinformatics. 2013 ;29(21):2790-1.
. Next-generation sequencing-based molecular diagnosis of a Chinese patient cohort with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci. 2013 ;54(6):4158-66.
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Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proc Natl Acad Sci U S A. 2014 ;111(31):11473-8.
. Next-generation sequencing and novel variant determination in a cohort of 92 familial exudative vitreoretinopathy patients. Invest Ophthalmol Vis Sci. 2015 ;56(3):1937-46.
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