| Returning actionable genomic results in a research biobank: Analytic validity, clinical implementation, and resource utilization CLB Zawatsky, N Shah, K Machini, E Perez, KD Christensen, H Zouk, ... The American Journal of Human Genetics 108 (12), 2224-2237, 2021 | 57 | 2021 |
| Perspectives of rare disease experts on newborn genome sequencing NB Gold, SM Adelson, N Shah, S Williams, SL Bick, ES Zoltick, JI Gold, ... JAMA Network Open 6 (5), e2312231-e2312231, 2023 | 38 | 2023 |
| Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project RC Green, N Shah, CA Genetti, T Yu, B Zettler, MK Uveges, ... The American Journal of Human Genetics 110 (7), 1034-1045, 2023 | 36 | 2023 |
| Implementing Whole Genome Sequencing (WGS) in Clinical Practice: Advantages, Challenges, and Future Perspectives P Brlek, L Bulić, M Bračić, P Projić, V Škaro, N Shah, P Shah, D Primorac Cells 13 (6), 504, 2024 | 31 | 2024 |
| Validity of claims‐based algorithms to identify neurodevelopmental disorders in children L Straub, BT Bateman, S Hernandez‐Diaz, C York, Y Zhu, EA Suarez, ... Pharmacoepidemiology and Drug Safety 30 (12), 1635-1642, 2021 | 25 | 2021 |
| Mutation analysis of β-thalassemia in East-Western Indian population: a recent molecular approach PS Shah, ND Shah, HSP Ray, NB Khatri, KK Vaghasia, RJ Raval, ... The application of clinical genetics, 27-35, 2017 | 23 | 2017 |
| Gain‐of‐function pathogenic variants in SMAD4 are associated with neoplasia in Myhre syndrome AE Lin, A Alali, LJ Starr, N Shah, A Beavis, EM Pereira, ME Lindsay, ... American Journal of Medical Genetics Part A 182 (2), 328-337, 2020 | 22 | 2020 |
| Mutation analysis of BRCA1/2 mutations with special reference to polymorphic SNPs in Indian breast cancer patients ND Shah, PS Shah, YY Panchal, KH Katudia, NB Khatri, HSP Ray, ... The Application of Clinical Genetics, 59-67, 2018 | 15 | 2018 |
| Proband only exome sequencing in 403 Indian children with neurodevelopmental disorders: Diagnostic yield, utility and challenges in a resource-limited setting RP Chand, W Vinit, V Vaidya, AS Iyer, M Shelke, S Aggarwal, S Magar, ... European Journal of Medical Genetics 66 (5), 104730, 2023 | 9 | 2023 |
| Bi‐allelic loss of function variants in GOLGA2 are associated with a complex neurological phenotype: Report of a second family U Kotecha, M Mistri, N Shah, PS Shah, VA Gupta Clinical Genetics 100 (6), 748-751, 2021 | 8 | 2021 |
| Karyotypic analysis of chromosomal polymorphism in relation to reproductive failure K Vaghasia, ND Shah, PS Shah, VM Bhatt, SC Shah, MV Rao Int J Pharm Pharm Sci 9 (4), 140-3, 2017 | 7 | 2017 |
| Single-day HER2neu amplification assessment using chip-based digital PCR in formalin-fixed paraffin-embedded breast carcinoma tissue PS Shah, S Murarka, A Joshi, B Mehta, V Parmar, N Shah, K Patel, ... Breast Cancer: Targets and Therapy, 121-129, 2018 | 4 | 2018 |
| The diagnostic utility of exome‐based carrier screening in families with a positive family history UH Kotecha, M Mistri, P Rayabarapu, P Shah, N Shah American Journal of Medical Genetics Part A 188 (4), 1323-1333, 2022 | 3 | 2022 |
| Genomic sequencing for newborn screening: current perspectives and challenges N Shah, P Brlek, L Bulić, E Brenner, V Škaro, A Skelin, P Projić, P Shah, ... Croatian Medical Journal 65 (3), 261, 2024 | 2 | 2024 |
| Unlocking Infertility: Enhancing Pregnancy Rates With Personalized Embryo Transfers Using Optimal Time for Endometrial Receptivity Analysis in Recurrent Implantation Failure … H Gajjar, J Banker, S Murarka, P Shah, N Shah, L Bhaskaran Cureus 16 (2), 2024 | 2 | 2024 |
| Dengue and viral circulation in infected cases of Ahmedabad: a single centre study PS Shah, ND Shah, AS Patel, SM Kurtadikar, HD Dixit, KR Patel, ... Studies on Ethno-Medicine 11 (4), 297-301, 2017 | 2 | 2017 |
| Medical Evaluation of Unanticipated Monogenic Disease Risks Identified through Newborn Genomic Screening: Findings from the BabySeq Project RC Green, N Shah, CA Genetti, T Yu, B Zettler, TS Schwartz, MK Uveges, ... medRxiv, 2022.03. 18.22272284, 2022 | 1 | 2022 |
| Comparison of QF-PCR and FISH for Aneuploidy Detection in Prenatal Diagnosis. SC SHAH, ND SHAH, PS SHAH, HSP RAY, KK VAGHASIA, AK MEHTA, ... Journal of Clinical & Diagnostic Research 13 (8), 2019 | 1 | 2019 |
| Mutation Analysis of Beta-thalassaemia in 30 Families of India: A Report. PS Shah, ND Shah, HSP Ray, NB Khatri, KK Vaghasia, MV RAO, ... Journal of Clinical & Diagnostic Research 12 (5), 2018 | 1 | 2018 |
| The Impact of Progesterone Administration Routes on Endometrial Receptivity and Clinical Outcomes in Assisted Reproductive Technology Cycles H Gajjar, J Banker, S Murarka, P Shah, N Shah, L Bhaskaran Cureus 16 (6), 2024 | | 2024 |