Publications
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Filters: First Letter Of Title is I and Author is Jhangiani, Shalini [Clear All Filters]
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease. Hum Genet. 2021 ;140(9):1299-1312.
. Integrated sequencing and array comparative genomic hybridization in familial Parkinson disease. Neurol Genet. 2020 ;6(5):e498.
. Insights into genetics, human biology and disease gleaned from family based genomic studies. Genet Med. 2019 ;21(4):798-812.
. . Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis. Mol Genet Metab. 2018 ;125(3):302-304.
. Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis. Hum Genet. 2018 ;137(9):689-703.
. Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles. Am J Hum Genet. 2018 ;103(2):171-187.
. Identification of a RAI1-associated disease network through integration of exome sequencing, transcriptomics, and 3D genomics. Genome Med. 2016 ;8(1):105.
. Identification of Intellectual Disability Genes in Female Patients with a Skewed X-Inactivation Pattern. Hum Mutat. 2016 ;37(8):804-11.
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