Publications

Variable Expressivity and Response to Bisphosphonate Therapy in a Family with Osteoporosis Pseudoglioma Syndrome

Indian Pediatr. 2017; 54: 681 – 683.

An unexpected cause of microcephaly in a child with leukodystrophy.

Genetic Clinics 2017;10 (1): 7-11.

GWAS identifies population-specific new regulatory variants in FUT6 associated with plasma B12 concentrations in Indians

Hum Mol Genet. 2017 Jul 1;26(13):2551-2564. doi: 10.1093/hmg/ddx071.

DRB4 dsRBD1 drives dsRNA recognition in Arabidopsis thaliana tasi/siRNA pathway

Nucleic Acids Research, 45(14), 8551-8563

A Low-Frequency Inactivating AKT2 Variant Enriched in the Finnish Population Is Associated With Fasting Insulin Levels and Type 2 Diabetes Risk

Diabetes. 2017 Jul;66(7):2019-2032. doi: 10.2337/db16-1329. Epub 2017 Mar 24.

GWAS identifies population-specific new regulatory variants in FUT6 associated with plasma B12 concentrations in Indians

Hum Mol Genet. 2017 Jul 1;26(13):2589. doi: 10.1093/hmg/ddx156.

Identification of a functional enhancer variant within the chronic pancreatitis-associated SPINK1 c.101A>G (p.Asn34Ser)-containing haplotype

Hum Mutat. 2017 Aug;38(8):1014-1024. doi: 10.1002/humu.23269. Epub 2017 Jun 15.

Hypermethylated CpG sites in the MTR gene promoter in preterm placenta

Epigenomics. 2017 Jul;9(7):985-996. doi: 10.2217/epi-2016-0173. Epub 2017 Jun 15.

C-State: An interactive web app for simultaneous multi-gene visualization and comparative epigenetic pattern search

BMC Bioinformatics, 18 (Suppl 10):392. doi: 10.1186/s12859-017-1786-6

Mimicking muscle stem cell quiescence in culture: methods for synchronization in reversible arrest

Muscle Stem Cells: Methods and Protocols, 1556:283-302. doi: 10.1007/978-1-4939-6771-1_15