Padmini Parthasarathy

AgResearch Ltd - Hamilton / New Zealand

Natural Sciences / Molecular Biology & Genetics

AD Scientific Index ID: 5457491

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Padmini Parthasarathy's MOST POPULAR ARTICLES

1-) Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphismM Chopra, M McEntagart, J Clayton-Smith, K Platzer, A Shukla, ...The American Journal of Human Genetics 108 (6), 1138-1150, 2021182021

2-) Biallelic loss‐of‐function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowthFL Harms, P Parthasarathy, D Zorndt, M Alawi, S Fuchs, BJ Halliday, ...Human mutation 41 (9), 1645-1661, 2020142020

3-) ncVarDB: a manually curated database for pathogenic non-coding variants and benign controlsH Biggs, P Parthasarathy, A Gavryushkina, PP GardnerDatabase 2020, baaa105, 2020122020

4-) Deletion of the last two exons of FGF10 in a family with LADD syndrome and pulmonary acinar hypoplasiaEM Wade, P Parthasarathy, J Mi, T Morgan, B Wollnik, SP Robertson, ...European Journal of Human Genetics 30 (4), 480-484, 202292022

5-) Deletion of Exon 1 in AMER1 in Osteopathia Striata with Cranial SclerosisJ Mi, P Parthasarathy, BJ Halliday, T Morgan, J Dean, MJM Nowaczyk, ...Genes 11 (12), 1439, 202082020

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