Publications
Filters: Author is Jhangiani, Shalini N [Clear All Filters]
NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy. Genome Med. 2024 ;16(1):53.
. A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function. J Exp Med. 2019 ;216(12):2778-2799.
. Novel genetic causes for cerebral visual impairment. Eur J Hum Genet. 2016 ;24(5):660-5.
. Novel Heterozygous Mutation in Is Associated With Early Onset CVID and a Functional Defect in NK Cells Complicated by Disseminated CMV Infection and Severe Nephrotic Syndrome. Front Pediatr. 2019 ;7:303.
. A novel homozygous SLC13A5 whole-gene deletion generated by Alu/Alu-mediated rearrangement in an Iraqi family with epileptic encephalopathy. Am J Med Genet A. 2021 ;185(7):1972-1980.
. Novel LSS variants in alopecia and intellectual disability syndrome: New case report and clinical spectrum of LSS-related rare disease traits. Clin Genet. 2023 ;104(3):344-349.
. Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis. Genet Med. 2016 ;18(11):1158-1162.
. A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy. Eur J Hum Genet. 2018 ;26(9):1294-1305.
. Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome. Am J Med Genet A. 2021 ;185(12):3593-3600.
. Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability. HGG Adv. 2022 ;3(1):100074.
. Novel RETREG1 (FAM134B) founder allele is linked to HSAN2B and renal disease in a Turkish family. Am J Med Genet A. 2022 ;188(7):2153-2161.
. NR2F1 mutations cause optic atrophy with intellectual disability. Am J Hum Genet. 2014 ;94(2):303-9.
. An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell. 2017 ;168(5):830-842.e7.
. Paralog Studies Augment Gene Discovery: DDX and DHX Genes. Am J Hum Genet. 2019 ;105(2):302-316.
. Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins. Hum Genet. 2016 ;135(5):569-586.
. A Patient with Berardinelli-Seip Syndrome, Novel Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy. J Clin Res Pediatr Endocrinol. 2019 ;11(3):319-326.
. PEHO Syndrome May Represent Phenotypic Expansion at the Severe End of the Early-Onset Encephalopathies. Pediatr Neurol. 2016 ;60:83-7.
. PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia. Am J Hum Genet. 2014 ;95(1):96-107.
. PhenoDB, GeneMatcher and VariantMatcher, tools for analysis and sharing of sequence data. Orphanet J Rare Dis. 2021 ;16(1):365.
. Phenotype expansion and development in Kosaki overgrowth syndrome. Clin Genet. 2018 ;93(4):919-924.
. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome. Hum Mutat. 2022 ;43(7):900-918.
. Phenotypic expansion illuminates multilocus pathogenic variation. Genet Med. 2018 ;20(12):1528-1537.
. Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases. Hum Mutat. 2020 ;41(12):2094-2104.
. Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation. JIMD Rep. 2016 ;26:7-12.
. Phenotypic expansion of TBX4 mutations to include acinar dysplasia of the lungs. Am J Med Genet A. 2016 ;170(9):2440-4.
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