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Uzma Shamim

Institute of Genomics and Integrative Biology

21

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Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel LOXL3 Mutation.

2021 The Cleft Palate-Craniofacial Journal
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Next-Generation Sequencing for Congenital Nephrotic Syndrome: A Multi-Center Cross-Sectional Study from India.

2021 Indian Pediatrics
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6q13q14.3 Microdeletion Syndrome with Severe Hypotonia and Facial Dysmorphism: Genotype–Phenotype Correlation

2021 Journal of pediatric genetics
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Distinct and Recognisable Muscle MRI Pattern in a Series of Adults Harbouring an Identical GMPPB Gene Mutation.

2021 Journal of neuromuscular diseases
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Generation of induced pluripotent stem cell line (IGIBi007-A) from a patient with a novel acromesomelic dysplasia, PRKG2 type (AMDP).

2021 Stem Cell Research
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SCA2 in the Indian population: Unified haplotype and variable phenotypic patterns in a large case series.

2021 Parkinsonism & Related Disorders
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Genomic analysis of patients in a South Indian Community with autosomal dominant cortical tremor, myoclonus and epilepsy suggests a founder repeat expansion mutation in the SAMD12 gene

2021
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A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.

2021 Neurogenetics
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C9orf72 Hexanucleotide repeat expansion in Indian ALS patients: A common founder and its geographical predilection.

2020 Neurobiology of Aging
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Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.

2020 Journal of Medical Genetics
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