Publications

Scientific publications by MedGenome and featuring MedGenome services

Isolated Lateralized Overgrowth – Phenotypic Spectrum and Molecular Alterations

Indian J Pediatr, 2024

PMID: 39425824

To evaluate the molecular aberrations at 11p15.5 locus in thirty-two patients with isolated lateralized overgrowth (ILO). Among selected 32 cases of ILO, methylation-sensitive multiplex ligation-dependent probe amplification (MS-MLPA) was performed initially followed by short tandem repeats (STR) marker analysis to confirm uniparental disomy (UPD). In those patients with normal MLPA reports, cyclin dependent kinase inhibitor 1C (CDKN1C) gene and whole exome sequencing was performed.

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High rate of detected variants in male PLCZ1 and ACTL7A genes causing failed fertilization after ICSI

Hum Reprod Open, Vol. 2024, Issue 4, Article Number: hoae057, 2024

PMID: 39411542

What is the frequency of PLCZ1, ACTL7A, and ACTL9 variants in male patients showing fertilization failure after ICSI, and how effective is assisted oocyte activation (AOA) for them?. Male patients with fertilization failure after ICSI manifest variants in PLCZ1 (29.09%), ACTL7A (14.81%), and ACTL9 (3.70%), which can be efficiently overcome by AOA treatment with ionomycin.

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KBG Syndrome in 16 Indian Individuals

Am J Med Genet A, Article Number: e63907, 2024

PMID: 39404460

We aimed to describe the clinical and genetic characteristics of 16 individuals with KBG syndrome (KBGS) from 13 Indian families. We retrospectively analyzed the clinical details of individuals with KBGS harboring a likely pathogenic/pathogenic variant in ANKRD11. We also analyzed their facial gestalt using Face2Gene and recorded the top three differential disorders suggested by the application.

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Movement disorders in Megalencephalic Leukoencephalopathy with subcortical cysts – A case series

Parkinsonism Relat Disord, Vol. 128, Article Number: 107152, 2024

PMID: 39326284

Megalencephalic leukoencephalopathy with subcortical cysts (MLC) has been described in the literature mostly as early-onset leukodystrophy with cerebellar ataxia being the main clinical phenotype. However, other associated movement disorders have also been reported discretely. Here, we present seven cases of MLC.

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Spectrum of Alport syndrome in an Indian cohort

Pediatr Nephrol, 2024

PMID: 39278986

Next-generation sequencing has enabled non-invasive diagnosis of type IV collagen disease in clinical settings other than the typical presentation of Alport syndrome (AS). We reviewed the clinical and histological records of children diagnosed with Alport syndrome based on next-generation sequencing. Variants on clinical exome sequencing were categorized using ACMG 2015 criteria.

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Navigating the clinical landscape: Update on the diagnostic and prognostic biomarkers in multiple myeloma

Mol Biol Rep, Vol. 51, Issue 1, Article Number: 972, 2024

PMID: 39249557

Multiple myeloma, a complex hematologic malignancy, has devastating consequences for patients, including dramatic bone loss, severe bone pain, and pathological fractures that markedly decrease the quality of life and impact the survival of affected patients. This necessitates a refined understanding of biomarkers for accurate diagnosis and prognosis of such severe malignancy. Therefore, this article comprehensively covers current research, elucidating the diverse spectrum of biomarkers employed in clinical settings.

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Identification of nine novel HLA alleles by next-generation sequencing in individuals from India

HLA, Vol. 104, Issue 3, Article Number: e15676, 2024

PMID: 39234804

Nine novel HLA alleles were identified when HLA typing individuals from the Indian population.

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GNE Myopathy: Genotype – Phenotype Correlation and Disease Progression in an Indian Cohort

J Neuromuscul Dis, 2024

PMID: 39213088

GNE myopathy is a rare slowly progressive adult-onset distal myopathy with autosomal recessive inheritance. It has distinctive features of quadriceps sparing with preferential anterior tibial involvement. Most patients eventually become wheelchair bound by 10-20 years after onset. This study analyzes the phenotype-genotype characteristics and disease progression in a large cohort of GNEM patients from India.

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Extending HLA allele sequences using next-generation sequencing technology

HLA, Vol. 104, Issue 2, Article Number: e15656, 2024

PMID: 39189248

Extended sequences for 13 HLA alleles were found which had limited coverage previously.

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