Krati Shah

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns

Hannah Stamberger, Trine Bjørg Hammer, Elena Gardella et al. · Genetics in Medicine · 2020 · 56 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patients

Aparna Ganapathy, Avshesh Mishra, Megha Rani Soni et al. · Journal of Neurology · 2019 · 39 citations

Life Sciences, Genetics, Neurology +16

Mutational Landscape for Indian Hereditary Breast and Ovarian Cancer Cohort Suggests Need for Identifying Population Specific Genes and Biomarkers for Screening

Mohammed Shaad N. Kadri, Komal Patel, Poonam A. Bhargava et al. · Frontiers in Oncology · 2021 · 25 citations · Full text

Life Sciences, Genetics, Oncology +17

Lysosomal Storage Disorders in Nonimmune Hydrops Fetalis (NIHF): An Indian Experience

Jayesh Sheth, Mehul Mistri, Krati Shah et al. · JIMD Reports · 2016 · 23 citations · Full text

Medicine, Obstetrics, Pathology +15

Novel <i>LINS1</i> missense mutation in a family with non‐syndromic intellectual disability

Jayesh Sheth, Gyan Ranjan, Krati Shah et al. · American Journal of Medical Genetics Part A · 2017 · 13 citations

Life Sciences, Genetics, Molecular Genetics +17