Publications
NF-κB and STAT3 co-operation enhances high glucose induced aggressiveness of cholangiocarcinoma cells. Life Sci. 2020 ;262:118548.
. Neurodevelopmental disorder in an Egyptian family with a biallelic ALKBH8 variant. Am J Med Genet A. 2021 ;185(4):1288-1293.
. Neptune: an environment for the delivery of genomic medicine. Genet Med. 2021 ;23(10):1838-1846.
. Multiplex PCR: advantages, development, and applications. PCR Methods Appl. 1994 ;3(4):S65-75.
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Multiplex DNA amplification and solid-phase direct sequencing for mutation analysis at the hprt locus in Chinese hamster cells. Mutat Res. 1993 ;288(2):237-48.
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Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses. Hum Mutat. 2016 ;37(3):231-234.
. muCNV: Genotyping Structural Variants for Population-level Sequencing. Bioinformatics. 2021 ;37(14):2055-7.
. Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease. Am J Hum Genet. 2023 ;110(8):1394-1413.
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Molecular characterization of 125I decay and X-ray-induced HPRT mutants in CHO cells. Int J Radiat Biol Relat Stud Phys Chem Med. 1987 ;51(2):193-9.
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The molecular basis of the sparse fur mouse mutation. Science. 1987 ;237(4813):415-7.
. Molecular and phenotypic variation in patients with severe Hunter syndrome. Hum Mol Genet. 1997 ;6(3):479-86.
. missense mutations in Xia-Gibbs syndrome. HGG Adv. 2021 ;2(4).
. Microarray analysis of somatostatin receptor 5-regulated gene expression profiles in murine pancreas. World J Surg. 2009 ;33(4):630-7.
. Method for 96-well M13 DNA template preparations for large-scale sequencing. Biotechniques. 1996 ;20(6):1022-7.
. Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2. Cell. 2019 ;176(6):1310-1324.e10.
. Meeting the growing demands of genetic research. J Law Med Ethics. 2006 ;34(4):809-12.
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Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism. Hum Mutat. 2022 ;43(12):2033-2053.
. Long HIV-1 incubation periods and dynamics of transmission within a family. Lancet. 1990 ;336(8708):134-6.
. Loader Lite: a new software tool for the ABI PRISM 3700 DNA sequencer. Biotechniques. 2002 ;32(6):1366, 1368, 1370-1.
. Leveraging Human Microbiome Features to Diagnose and Stratify Children with Irritable Bowel Syndrome. J Mol Diagn. 2019 ;21(3):449-461.
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