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Breakdown of Arabidopsis thaliana thioredoxins and glutaredoxins based on electrostatic similarity–Leads to common and unique interaction partners and functions

PloS one, 2023-09, Vol.18 (9), p.e0291272-e0291272

2023

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Synthetic transcription elongation factors license transcription across repressive chromatin

Science (American Association for the Advancement of Science), 2017-12, Vol.358 (6370), p.1617-1622

2017

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Generation of two human induced pluripotent stem cell lines, IGIBi012-A and IGIBi013-A from Friedreich’s ataxia (FRDA) patients with homozygous GAA repeat expansion in FXN gene

Stem cell research, 2024-04, Vol.76, p.103340-103340, Article 103340

2024

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Impact of SARS‐CoV‐2 Infection in Spinocerebellar Ataxia 12 Patients

Movement disorders, 2021-11, Vol.36 (11), p.2459-2460

2021

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Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by a novel MFF gene mutation in a young child

Clinical genetics, 2020-06, Vol.97 (6), p.933-937

2020

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Generation of an Induced pluripotent stem cell (iPSC) line (IGIBi011-A) from a Spinocerebellar ataxia type 12 gait dominant patient

Stem cell research, 2024-04, Vol.76, p.103319-103319, Article 103319

2024

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Generation and characterization of two human iPSC lines, IGIBi014-A and IGIBi015-A, from Friedreich's ataxia (FRDA) patients with pathogenic (GAA/TTC)n repeat expansion in first intron of the Frataxin (FXN) gene

Stem cell research, 2024-02, Vol.74, p.103289-103289, Article 103289

2024

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IL35 modulation altered survival, cytokine environment and histopathological consequences during malaria infection in mice

Malaria journal, 2019-12, Vol.18 (1), p.434-434, Article 434

2019

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Generation and characterization of iPSC lines from Friedreich’s ataxia patient (FRDA) with GAA.TTC repeat expansion in the Frataxin (FXN) gene’s first intron (IGIBi016-A) and a non-FRDA healthy control individual (IGIBi017-A)

Stem cell research, 2024-06, Vol.77, p.103382-103382, Article 103382

2024

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Genetic alterations related to BRAF‐FGFR genes and dysregulated MAPK/ERK/mTOR signaling in adult pilocytic astrocytoma

Brain pathology (Zurich, Switzerland), 2017-09, Vol.27 (5), p.580-589

2017

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The clinical diagnostic utility of array CGH in children with syndromic microcephaly

Annals of the Indian Academy of Neurology, 2022-11, Vol.25 (6), p.1067-1074

2022

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Lab resource: Single cell line generation and characterization of a human-derived induced pluripotent stem cell line (IGIBi005-A) from a patient with spastic paraplegia/ataxia/ALS phenotype due to the mutation of the gene Kinesin Family Member 5A (KIF5A)

Stem cell research, 2022-10, Vol.64, p.102904-102904, Article 102904

2022

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Repurposing Pathogenic Variants of DMD Gene and its Isoforms for DMD Exon Skipping Intervention

Current genomics, 2019-11, Vol.20 (7), p.519-530

2019

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Altered global histone-trimethylation code and H3F3A-ATRX mutation in pediatric GBM

Journal of neuro-oncology, 2015-02, Vol.121 (3), p.489-497

2015

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Microdeletion 12p12.1 involving SRY-related HMG-box 5 gene with developmental delay and autistic behavior: A rare case report

Saudi Journal for Health Sciences, 2023-01, Vol.12 (2), p.157-160

2023

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Generation of two induced pluripotent stem cell (iPSC) lines from patients with Duchenne muscular dystrophy (IGIBi006-A and IGIBi008-A) carrying exonic deletions in the dystrophin gene

Stem cell research, 2022-10, Vol.64, p.102927-102927, Article 102927

2022

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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

The Cleft palate-craniofacial journal, 2022-11, Vol.59 (11), p.1329-1339

2022

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Respiratory Co-Infections: Modulators of SARS-CoV-2 Patients’ Clinical Sub-Phenotype

Frontiers in microbiology, 2021-05, Vol.12, p.653399-653399

2021

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Intrafamilial variable spastic paraplegia/ataxia/ALS phenotype linked to a novel KIF5A mutation

Clinical genetics, 2019-09, Vol.96 (3), p.271-273

2019

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Clinical and Genetic Analysis of A Father-Son Duo with Monomelic Amyotrophy: Case Report

Annals of the Indian Academy of Neurology, 2023-11, Vol.26 (6), p.983-988

2023

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Genetics and Genomics of Neurological Disorders for precision Medicine

Indian journal of clinical biochemistry, 2022-05, Vol.36 (S1), p.S9

Faruq, Mohammed

2022

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A novel CYP27A1 frameshift mutation causing cerebrotendinous xanthomatosis in an Indian family

Annals of movement disorders, 2022-05, Vol.5 (2), p.125-130

2022

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Genetic testing and family screening in idiopathic pediatric cardiomyopathy: a prospective observational study from a tertiary care center in North India

The Egyptian journal of medical human genetics, 2023-12, Vol.24 (1), p.35

2023

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Molecular clues unveiling spinocerebellar ataxia type-12 pathogenesis

iScience, 2024-05, Vol.27 (5), p.109768-109768, Article 109768

2024

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Breakdown of Arabidopsis thaliana thioredoxins and glutaredoxins based on electrostatic similarity–Leads to common and unique interaction partners and functions

Synthetic transcription elongation factors license transcription across repressive chromatin

Generation of two human induced pluripotent stem cell lines, IGIBi012-A and IGIBi013-A from Friedreich’s ataxia (FRDA) patients with homozygous GAA repeat expansion in FXN gene

Impact of SARS‐CoV‐2 Infection in Spinocerebellar Ataxia 12 Patients

Encephalopathy due to defective mitochondrial and peroxisomal fission 2 caused by a novel MFF gene mutation in a young child

Generation of an Induced pluripotent stem cell (iPSC) line (IGIBi011-A) from a Spinocerebellar ataxia type 12 gait dominant patient

Generation and characterization of two human iPSC lines, IGIBi014-A and IGIBi015-A, from Friedreich's ataxia (FRDA) patients with pathogenic (GAA/TTC)n repeat expansion in first intron of the Frataxin (FXN) gene

IL35 modulation altered survival, cytokine environment and histopathological consequences during malaria infection in mice

Generation and characterization of iPSC lines from Friedreich’s ataxia patient (FRDA) with GAA.TTC repeat expansion in the Frataxin (FXN) gene’s first intron (IGIBi016-A) and a non-FRDA healthy control individual (IGIBi017-A)

Genetic alterations related to BRAF‐FGFR genes and dysregulated MAPK/ERK/mTOR signaling in adult pilocytic astrocytoma

The clinical diagnostic utility of array CGH in children with syndromic microcephaly

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

Lab resource: Single cell line generation and characterization of a human-derived induced pluripotent stem cell line (IGIBi005-A) from a patient with spastic paraplegia/ataxia/ALS phenotype due to the mutation of the gene Kinesin Family Member 5A (KIF5A)

Repurposing Pathogenic Variants of DMD Gene and its Isoforms for DMD Exon Skipping Intervention

Altered global histone-trimethylation code and H3F3A-ATRX mutation in pediatric GBM

Microdeletion 12p12.1 involving SRY-related HMG-box 5 gene with developmental delay and autistic behavior: A rare case report

Generation of two induced pluripotent stem cell (iPSC) lines from patients with Duchenne muscular dystrophy (IGIBi006-A and IGIBi008-A) carrying exonic deletions in the dystrophin gene

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

Respiratory Co-Infections: Modulators of SARS-CoV-2 Patients’ Clinical Sub-Phenotype

Intrafamilial variable spastic paraplegia/ataxia/ALS phenotype linked to a novel KIF5A mutation

Clinical and Genetic Analysis of A Father-Son Duo with Monomelic Amyotrophy: Case Report

Genetics and Genomics of Neurological Disorders for precision Medicine

A novel CYP27A1 frameshift mutation causing cerebrotendinous xanthomatosis in an Indian family

Genetic testing and family screening in idiopathic pediatric cardiomyopathy: a prospective observational study from a tertiary care center in North India

Molecular clues unveiling spinocerebellar ataxia type-12 pathogenesis

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