M. H. Shah

发表

Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome

V. Bhat, Arun Kumar, M. H. Shah, 2014, Molecular vision.

Genetic analysis of ATP7B in 102 south Indian families with Wilson disease

Saketh Kapoor, A. Taly, S. Sinha, 2019, PloS one.

Genetic Analysis of PLA2G6 in 22 Indian Families with Infantile Neuroaxonal Dystrophy, Atypical Late-Onset Neuroaxonal Dystrophy and Dystonia Parkinsonism Complex

A. Mahadevan, R. Bharath, Saketh Kapoor, 2016, PloS one.

Identification and characterization of variants and a novel 4 bp deletion in the regulatory region of SIX6, a risk factor for primary open‐angle glaucoma

P. Bovolenta, Periasamy Sundaresan, N. Tabanera, 2017, Molecular genetics & genomic medicine.

Whole-exome sequencing identifies multiple pathogenic variants in a large South Indian family with primary open-angle glaucoma

S. R. Krishnadas, Periasamy Sundaresan, M. H. Shah, 2021, Indian journal of ophthalmology.

Identification of genetic heterogeneity in a South Indian family affected by primary open angle glaucoma

S. R. Krishnadas, R. Ramakrishnan, M. H. Shah, 2020 .

Whole-exome sequencing identifies multiple pathogenic variants in a large South Indian family with primary open-angle glaucoma

S. R. Krishnadas, R. Ramakrishnan, Periasamy Sundaresan, 2021, Indian journal of ophthalmology.

Whole Exome Sequencing of a large family with Primary Open Angle Glaucoma reveals its vast complexity

S. R. Krishnadas, R. Ramakrishnan, Periasamy Sundaresan, 2020, bioRxiv.

Clinical phenotype and the lack of mutations in the CHRNG, CHRND, and CHRNA1 genes in two Indian families with Escobar syndrome

V. Bhat, Arun Kumar, M. H. Shah, 2013, Clinical dysmorphology.

Genetic analysis of ATP7B in 102 south Indian families with Wilson disease

Saketh Kapoor, A. Taly, S. Sinha, 2019, PloS one.