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Novel mutation as a cause of anterior segment dysgenesis leading to blindness in progeny: the genetics decoded

The Egyptian journal of medical human genetics, 2024-12, Vol.25 (1), p.20

2024

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P598: Gene-disease validity assessments in pediatric movement disorders: Prospective experience and retrospective analysis of concordance with expert curated panels

Genetics in Medicine Open, 2024, Vol.2, p.101504, Article 101504

2024

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Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

BMC medical genetics, 2018-10, Vol.19 (1), p.178-178, Article 178

2018

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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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Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India

BMC medical genetics, 2018-07, Vol.19 (1), p.109-5, Article 109

2018

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Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India

Journal of human genetics, 2019-10, Vol.64 (10), p.985-994

2019

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Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients

BMC neurology, 2018-12, Vol.18 (1), p.203-203, Article 203

2018

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Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India

PloS one, 2012-06, Vol.7 (6), p.e39122-e39122

2012

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Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease

Journal of human genetics, 2014-04, Vol.59 (4), p.223-228

2014

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Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease

Journal of human genetics, 2016-02, Vol.61 (2), p.163-166

2016

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Expanding the spectrum of ADNP‐related disorder‐Antenatally diagnosed congenital diaphragmatic hernia and a novel de novo mutation in ADNP gene

American journal of medical genetics. Part A, 2023-01, Vol.191 (1), p.275-279

2023

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Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease

Molecular genetics and metabolism reports, 2014-01, Vol.1 (C), p.425-430

2014

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The diagnostic utility of exome‐based carrier screening in families with a positive family history

American journal of medical genetics. Part A, 2022-04, Vol.188 (4), p.1323-1333

2022

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Bi‐allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family

Clinical genetics, 2021-12, Vol.100 (6), p.748-751

2021

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Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature

BMC medical genetics, 2017-01, Vol.18 (1), p.5-5, Article 5

2017

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Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting

European journal of medical genetics, 2023-05, Vol.66 (5), p.104730-104730, Article 104730

2023

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GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review

BMC pediatrics, 2016-07, Vol.16 (1), p.88-88, Article 88

2016

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Novel mutation in the XPC gene: a case report of a patient with xeroderma pigmentosum

International journal of dermatology, 2015-11, Vol.54 (11), p.e487-e491

2015

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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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Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centre

Orphanet journal of rare diseases, 2024-08, Vol.19 (1), p.295-17, Article 295

2024

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Identification of novel and known mutation in 19 patients with mucolipidosis type II and III from India and validation of novel method of screening for mucolipidosis-II and III screening

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S96-S96

2018

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Molecular characterization and identification of novel mutations in the PPT1 gene causing neuronal ceroid lipofuscinosis-1 (NCL1) in children from India

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S28-S28

2016

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Lysosomal storage disorders in Indian children with neuroregression attending a genetic center

Indian pediatrics, 2015-12, Vol.52 (12), p.1029-1033

2015

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Disease-causing novel mutations in the HEXA gene: study of 7 children with Tay-Sachs disease from India

Molecular genetics and metabolism, 2014-02, Vol.111 (2), p.S77-S78

2014

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Occurrence and screening strategy of lysosomal storage disorders in India: Our experience

Molecular genetics and metabolism, 2011-02, Vol.102 (2), p.S41-S41

2011

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Novel mutation as a cause of anterior segment dysgenesis leading to blindness in progeny: the genetics decoded

P598: Gene-disease validity assessments in pediatric movement disorders: Prospective experience and retrospective analysis of concordance with expert curated panels

Biochemical and molecular characterization of adult patients with type I Gaucher disease and carrier frequency analysis of Leu444Pro - a common Gaucher disease mutation in India

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

Identification of deletion-duplication in HEXA gene in five children with Tay-Sachs disease from India

Identification of novel variants in a large cohort of children with Tay-Sachs disease: An initiative of a multicentric task force on lysosomal storage disorders by Government of India

Batten disease: biochemical and molecular characterization revealing novel PPT1 and TPP1 gene mutations in Indian patients

Identification of novel mutations in HEXA gene in children affected with Tay Sachs disease from India

Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease

Clinical, biochemical and mutation profile in Indian patients with Sandhoff disease

Expanding the spectrum of ADNP‐related disorder‐Antenatally diagnosed congenital diaphragmatic hernia and a novel de novo mutation in ADNP gene

Expanding the spectrum of HEXA mutations in Indian patients with Tay-Sachs disease

The diagnostic utility of exome‐based carrier screening in families with a positive family history

Bi‐allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family

Pulmonary manifestations in Niemann-Pick type C disease with mutations in NPC2 gene: case report and review of literature

Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting

GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review

Novel mutation in the XPC gene: a case report of a patient with xeroderma pigmentosum

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

Burden of rare genetic disorders in India: twenty-two years’ experience of a tertiary centre

Identification of novel and known mutation in 19 patients with mucolipidosis type II and III from India and validation of novel method of screening for mucolipidosis-II and III screening

Molecular characterization and identification of novel mutations in the PPT1 gene causing neuronal ceroid lipofuscinosis-1 (NCL1) in children from India

Lysosomal storage disorders in Indian children with neuroregression attending a genetic center

Disease-causing novel mutations in the HEXA gene: study of 7 children with Tay-Sachs disease from India

Occurrence and screening strategy of lysosomal storage disorders in India: Our experience

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