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Dental stem cells: Hope or hype?

Indian journal of dental research, 2016-03, Vol.27 (2), p.113-114

Dalal, Ashwin

2016

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Mitochondria in biology and medicine – 2023

Mitochondrion, 2024-05, Vol.76, p.101853-101853, Article 101853

2024

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A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4

European journal of human genetics : EJHG, 2020-05, Vol.28 (5), p.669-673

2020

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Identification of three novel mutations in SLCO2A1 in Asian-Indians with Pachydermoperiostosis

Indian journal of medical research (New Delhi, India : 1994), 2023-09, Vol.158 (3), p.319-323

2023

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Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy

Journal of human genetics, 2019-04, Vol.64 (4), p.323-331

2019

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Genotype first approach & familial segregation analysis help in the elucidation of disease-causing variant for fucosidosis

Indian journal of medical research (New Delhi, India : 1994), 2023-04, Vol.157 (4), p.363-366

2023

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Rare mutation in ELOVL4 gene in SCA34 and cognitive affection: Expounding the role of cerebellum

Clinical neurology and neurosurgery, 2021-11, Vol.210, p.106983-106983, Article 106983

2021

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Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI)

Gene, 2017-01, Vol.599, p.19-27

2017

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Scope of Genetic Testing for Inherited Cardiovascular Diseases in the Clinical Practice

Journal of Indian College of Cardiology, 2021-01, Vol.11 (1), p.5-12

2021

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Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants

American journal of medical genetics. Part A, 2022-04, Vol.188 (4), p.1287-1292

2022

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Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis

Journal of human genetics, 2023-04, Vol.68 (4), p.287-290

2023

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Long-range PCR amplification-based targeted enrichment & next generation sequencing: A cost-effective testing strategy for lysosomal storage disorders

Indian journal of medical research (New Delhi, India : 1994), 2023-06, Vol.157 (6), p.577

2023

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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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Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III

Journal of human genetics, 2020-11, Vol.65 (11), p.971-984

2020

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Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency

Human mutation, 2021-10, Vol.42 (10), p.1336-1350

2021

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A case of fatal familial edema

IHJ cardiovascular case reports, 2023-01, Vol.7 (1), p.29-32

2023

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Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in Southern region of India: report and review

Journal of assisted reproduction and genetics, 2011-02, Vol.28 (2), p.145-149

2011

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Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79

Journal of human genetics, 2018-08, Vol.63 (8), p.927-933

2018

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Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly

American journal of medical genetics. Part A, 2018-01, Vol.176 (1), p.34-40

2018

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Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism

Journal of human genetics, 2019-02, Vol.64 (2), p.183-189

2019

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Title-molecular diagnostics of dystrophinopathies in Sri Lanka towards phenotype predictions: an insight from a South Asian resource limited setting

European journal of medical research, 2024-01, Vol.29 (1), p.37-37, Article 37

2024

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Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis

Journal of human genetics, 2018-01, Vol.63 (1), p.19-25

2018

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Genetic Counseling for Inborn Errors of Metabolism

Indian journal of clinical biochemistry, 2022-05, Vol.29 (S1), p.S7

Dalal, Ashwin

2022

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Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

BMC medical genetics, 2019-02, Vol.20 (1), p.31-11, Article 31

2019

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Dental stem cells: Hope or hype?

Mitochondria in biology and medicine – 2023

A newly recognized multiple malformation syndrome with caudal regression associated with a biallelic c.402G>A variant in TBX4

Identification of three novel mutations in SLCO2A1 in Asian-Indians with Pachydermoperiostosis

Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy

Genotype first approach & familial segregation analysis help in the elucidation of disease-causing variant for fucosidosis

Rare mutation in ELOVL4 gene in SCA34 and cognitive affection: Expounding the role of cerebellum

Functional characterization of arylsulfatase B mutations in Indian patients with Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI)

Scope of Genetic Testing for Inherited Cardiovascular Diseases in the Clinical Practice

Fetal presentation of chondrodysplasia with joint dislocations, GPAPP type, caused by novel biallelic IMPAD1 variants

Genome sequencing identifies a large non-coding region deletion of SNX10 causing autosomal recessive osteopetrosis

Long-range PCR amplification-based targeted enrichment & next generation sequencing: A cost-effective testing strategy for lysosomal storage disorders

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism

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

Identification and characterization of 30 novel pathogenic variations in 69 unrelated Indian patients with Mucolipidosis Type II and Type III

Functional characterization of novel variants in SMPD1 in Indian patients with acid sphingomyelinase deficiency

A case of fatal familial edema

Cytogenetic abnormalities in 1162 couples with recurrent miscarriages in Southern region of India: report and review

Novel splice-site variant of UCHL1 in an Indian family with autosomal recessive spastic paraplegia-79

Whole exome sequencing reveals a mutation in ARMC9 as a cause of mental retardation, ptosis, and polydactyly

Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism

Title-molecular diagnostics of dystrophinopathies in Sri Lanka towards phenotype predictions: an insight from a South Asian resource limited setting

Homozygosity for a nonsense variant in AIMP2 is associated with a progressive neurodevelopmental disorder with microcephaly, seizures, and spastic quadriparesis

Genetic Counseling for Inborn Errors of Metabolism

Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation

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