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Molecular Genetics & Genomic Medicine|May 10, 2019
Whole exome sequencing reveals novel LEPR frameshift mutation in severely obese children from Western IndiaArpan Bhatt, Charul Purani, Poonam Bhargava, et al.Frontiers in Oncology|February 8, 2021
Mutational Landscape for Indian Hereditary Breast and Ovarian Cancer Cohort Suggests Need for Identifying Population Specific Genes and Biomarkers for ScreeningMohammed Shaad N Kadri, Komal M Patel, Poonam A Bhargava, et al.Journal of Neurology|May 10, 2019
Multi-gene testing in neurological disorders showed an improved diagnostic yield: data from over 1000 Indian patientsAparna Ganapathy, Avshesh Mishra, Megha Rani Soni, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 4, 2020
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patternsHannah Stamberger, Trine B Hammer, Elena Gardella, et al.Pageof 2