Anju Shukla

Noonan syndrome in diverse populations

Paul Kruszka, Antonio R. Porras, Yonit A. Addissie et al. · American Journal of Medical Genetics Part A · 2017 · 92 citations · Full text

Life Sciences, Genetics, Pediatrics +13

Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia

Long Guo, Katta M. Girisha, Aritoshi Iida et al. · Journal of Human Genetics · 2016 · 41 citations

Medicine, Genetics, Molecular Genetics +10

Cytokine gene polymorphisms in northern Indian women with recurrent miscarriages

Farah Parveen, Anju Shukla, Suraksha Agarwal · Fertility and Sterility · 2012 · 33 citations · Full text

Life Sciences, Genetics, Obstetrics +16

A neurodegenerative mitochondrial disease phenotype due to biallelic loss‐of‐function variants in <i>PNPLA8</i> encoding calcium‐independent phospholipase A2γ

Anju Shukla, Russell P. Saneto, Malavika Hebbar et al. · American Journal of Medical Genetics Part A · 2018 · 31 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Biallelic variants p.Arg1133Cys and p.Arg1379Cys in <i>COL2A1</i>: Further delineation of phenotypic spectrum of recessive Type 2 collagenopathies

Katta M. Girisha, Gandham SriLakshmi Bhavani, Hitesh Shah et al. · American Journal of Medical Genetics Part A · 2019 · 10 citations

Medicine, Genetics, Molecular Genetics +17