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Shubha R. Phadke

Sanjay Gandhi Post Graduate Institute of Medical Sciences

275

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Phenotypic and genotypic spectrum of CTSK variants in a cohort of Twenty-Five Indian patients with Pycnodysostosis

2021 European Journal of Medical Genetics
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Kallmann Syndrome and X-linked Ichthyosis Caused by Translocation Between Chromosomes X and Y: A Case Report

2021 JOURNAL OF REPRODUCTION AND INFERTILITY
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Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency.

2021 Human Mutation
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Clinical and molecular characterization of four patients with Robinow syndrome from different families.

2021 American Journal of Medical Genetics Part A
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Genetic heterogeneity of disorders with overgrowth and intellectual disability: Experience from a center in North India.

2021 American Journal of Medical Genetics Part A
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Monogenic Lupus with IgA Nephropathy Caused by Spondyloenchondrodysplasia with Immune Dysregulation.

2021 Indian Journal of Pediatrics
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A dataset of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.

2021 Human Mutation
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Partial Trisomy of Chromosome 8q and Partial Monosomy of Chromosome 6p with Robinow Syndrome-Like Phenotype.

2021 Indian Journal of Pediatrics
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Homozygous Missense Variation in PNPLA8 Causes Prenatal-Onset Severe Neurodegeneration

2021 Molecular Syndromology
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Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants.

2021 International Journal of Laboratory Hematology
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