Publications
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Filters: Keyword is Genetic Linkage and Author is Jhangiani, Shalini [Clear All Filters]
A diagnostic ceiling for exome sequencing in cerebellar ataxia and related neurological disorders. Hum Mutat. 2020 ;41(2):487-501.
. Whole-Exome Sequencing Identifies Novel Variants for Tooth Agenesis. J Dent Res. 2018 ;97(1):49-59.
. Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing. Eur J Hum Genet. 2017 ;25(1):73-78.
. Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2. Am J Hum Genet. 2015 ;97(5):647-60.
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