| Gaucher disease: single gene molecular characterization of one-hundred Indian patients reveals novel variants and the most prevalent mutation J Sheth, R Bhavsar, M Mistri, D Pancholi, A Bavdekar, A Dalal, ... BMC medical genetics 20, 1-11, 2019 | 44 | 2019 |
| Current role of genetics in hematologic malignancies G Prakash, A Kaur, P Malhotra, A Khadwal, P Sharma, V Suri, N Varma, ... Indian Journal of Hematology and Blood Transfusion 32, 18-31, 2016 | 31 | 2016 |
| Locus and allelic heterogeneity and phenotypic variability in Waardenburg syndrome PH Somashekar, KM Girisha, S Nampoothiri, K Gowrishankar, RR Devi, ... Clinical Genetics 95 (3), 398-402, 2019 | 25 | 2019 |
| Cytochrome P450 (CYP2C9* 2,* 3) & vitamin-K epoxide reductase complex (VKORC1-1639G< A) gene polymorphisms & their effect on acenocoumarol dose in patients with mechanical … A Kaur, F Khan, SS Agrawal, A Kapoor, SK Agarwal, SR Phadke Indian Journal of Medical Research 137 (1), 203-209, 2013 | 25 | 2013 |
| Clinical and molecular features of 66 patients with musculocontractural Ehlers− Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14) M Minatogawa, A Unzaki, H Morisaki, D Syx, T Sonoda, AR Janecke, ... Journal of medical genetics 59 (9), 865-877, 2022 | 23 | 2022 |
| Long-term epilepsy control, motor function, cognition, sleep and quality of life in children with West syndrome S Bhanudeep, P Madaan, N Sankhyan, L Saini, P Malhi, R Suthar, ... Epilepsy Research 173, 106629, 2021 | 20 | 2021 |
| Assessment of Post-thaw Quality of Dental Mesenchymal Stromal Cells After Long-Term Cryopreservation by Uncontrolled Freezing BCS Raik S, Kumar A, Rattan V, Seth S, Kaur A Appl Biochem Biotechnol 191 (2), 728, 2020 | 20 | 2020 |
| Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism M Chopra, M McEntagart, J Clayton-Smith, K Platzer, A Shukla, ... The American Journal of Human Genetics 108 (6), 1138-1150, 2021 | 17 | 2021 |
| Analysis of short stature cases referred for genetic evaluation A Kaur, SR Phadke The Indian Journal of Pediatrics 79, 1597-1600, 2012 | 16 | 2012 |
| Epigenetics in Kawasaki disease K Sharma, P Vignesh, P Srivastava, J Sharma, H Chaudhary, S Mondal, ... Frontiers in Pediatrics 9, 673294, 2021 | 13 | 2021 |
| Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities P Kaur, MC do Rosario, M Hebbar, S Sharma, N Kausthubham, K Nair, ... Clinical genetics 100 (5), 542-550, 2021 | 12 | 2021 |
| Influence of Xmn 1Gγ (HBG2 c.-211 C → T) Globin Gene Polymorphism on Phenotype of Thalassemia Patients of North India R Kumar, A Kaur, S Agarwal Indian Journal of Hematology and Blood Transfusion 30, 286-290, 2014 | 12 | 2014 |
| X-Linked ALG13 Gene Variant as a Cause of Epileptic Encephalopathy in Girls.Indian J Pediatr. 2019 Aug 23. SJK Madaan P, Negi S, Sharma R, Kaur A .Indian J Pediatr., 2019 | 11 | 2019 |
| Novel mutation in the CHST14 gene causing musculocontractural type of Ehlers-Danlos syndrome S Sandal, A Kaur, I Panigrahi Case Reports 2018, bcr-2018-226165, 2018 | 10 | 2018 |
| Wolf–Hirschhorn syndrome: A case series from India C Chaudhry, A Kaur, I Panigrahi, A Kaur American Journal of Medical Genetics Part A 182 (12), 3048-3051, 2020 | 7 | 2020 |
| Myriad Faces of Chronic Granulomatous Disease: All in an Indian Family with Novel CYBB Defect. 2019 Aug;39(6):611-6 SS Vignesh P, Sharma M, Pilania RK, Shandilya JK, Kaur A, Goel S, Kaur A ... J Clin Immunol., 2019 | 7 | 2019 |
| Neonatal-Onset Congenital Ectropion Uveae May Be Caused by a Distinct CYP1B1 Pathologic Variant S Kaushik, S Choudhary, A Kaur, P Srivastava, B Pokharel, M Akella, ... American Journal of Ophthalmology 239, 54-65, 2022 | 6 | 2022 |
| CAUSES Study M Chopra, M McEntagart, J Clayton-Smith, K Platzer, A Shukla, ... Kleefstra T, Stuurman KE, Wilke M, Thompson ML, Bebin EM, Bijlsma EK, Hoffer …, 0 | 5 | |
| Association of ITPKC gene polymorphisms rs28493229 and rs2290692 in North Indian children with Kawasaki disease D Bhattarai, R Kumrah, A Kaur, A Kaur, P Srivastava, A Rawat, S Singh Pediatric Research 92 (4), 1090-1098, 2022 | 4 | 2022 |
| Association of SNP (rs1042579) in thrombomodulin gene and plasma thrombomodulin level in North Indian children with Kawasaki disease A Singh, A Rawat, A Kaur, A Kaur, R Kumrah, N Johnson, H Chaudhary, ... Molecular Biology Reports 49 (8), 7399-7407, 2022 | 4 | 2022 |
