| The transcription factor Forkhead Box P3 gene variants affect idiopathic recurrent pregnancy loss D Saxena, MK Misra, F Parveen, SR Phadke, S Agrawal Placenta 36 (2), 226-231, 2015 | 55 | 2015 |
| Pycnodysostosis: mutation spectrum in five unrelated Indian children K Mandal, S Ray, D Saxena, P Srivastava, A Moirangthem, P Ranganath, ... Clinical Dysmorphology 25 (3), 113-120, 2016 | 17 | 2016 |
| Utility and limitations of multiplex ligation-dependent probe amplification technique in the detection of cytogenetic abnormalities in products of conception D Saxena, M Agarwal, D Gupta, S Agrawal, V Das, SR Phadke Journal of postgraduate medicine 62 (4), 239-241, 2016 | 14 | 2016 |
| Genetic heterogeneity of disorders with overgrowth and intellectual disability: experience from a center in North India A Moirangthem, K Mandal, D Saxena, P Srivastava, PS Gambhir, ... American Journal of Medical Genetics Part A 185 (8), 2345-2355, 2021 | 7 | 2021 |
| Phenotypic and genotypic spectrum of CTSK variants in a cohort of twenty-five Indian patients with pycnodysostosis H Sait, P Srivastava, N Gupta, M Kabra, S Kapoor, P Ranganath, ... European Journal of Medical Genetics 64 (7), 104235, 2021 | 6 | 2021 |
| Novel pathogenic variants in an Indian cohort with epidermolysis bullosa: Expanding the genotypic spectrum M Nilay, D Saxena, K Mandal, A Moirangthem, SR Phadke European Journal of Medical Genetics 64 (12), 104345, 2021 | 5 | 2021 |
| Deciphering the molecular landscape of microcephaly in 87 Indian families by exome sequencing S Masih, A Moirangthem, A Shambhavi, A Rai, K Mandal, D Saxena, ... European Journal of Medical Genetics 65 (6), 104520, 2022 | 4 | 2022 |
| A novel heterozygous missense mutation in uromodulin gene in an Indian family with familial juvenile hyperuricemic nephropathy D Saxena, P Srivastava, SR Phadke Indian Journal of Nephrology 26 (5), 364-367, 2016 | 4 | 2016 |
| Consanguinity as an adjunct diagnostic tool P Srivastava, D Saxena, S Joshi, SR Phadke The Indian Journal of Pediatrics 83, 258-260, 2016 | 4 | 2016 |
| Williams syndrome: a case series S Kandasamy, D Saxena, Y Kishore, SR Phadke Indian Pediatr 51, 411-2, 2014 | 4 | 2014 |
| Meckel Gruber and Joubert Syndrome Diagnosed Prenatally: Allelism between the Two Ciliopathies, Complexities of Mutation Types and Digenic Inheritance S Srivastava, R Manisha, A Dwivedi, H Agarwal, D Saxena, V Agrawal, ... Fetal and Pediatric Pathology 41 (6), 1041-1051, 2022 | 3 | 2022 |
| Genotype-phenotype spectrum of 130 unrelated Indian families with Mucopolysaccharidosis type II N Agrawal, G Verma, D Saxena, M Kabra, N Gupta, K Mandal, ... European Journal of Medical Genetics 65 (3), 104447, 2022 | 3 | 2022 |
| Integrated Management Strategies for Epidermolysis Bullosa: Current Insights H Sait, S Srivastava, D Saxena International Journal of General Medicine, 5133-5144, 2022 | 2 | 2022 |
| Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants N Agrawal, R Kumar, S Masih, P Srivastava, P Singh, SK Jaiswal, ... International Journal of Laboratory Hematology 44 (1), 186-192, 2022 | 2 | 2022 |
| Variable neurological phenotypes of homocystinuria caused by biallelic methylenetetrahydrofolate reductase variants A Moirangthem, D Saxena, S Masih, A Shambhavi, M Nilay, SR Phadke Clinical Dysmorphology 31 (2), 59-65, 2022 | 1 | 2022 |
| Retrospective diagnosis by parental testing in the next generation sequencing era and utility of reanalysis of exome data D Saxena, S Srivastava, RK Maurya, A Moirangthem, K Mandal, ... Prenatal Diagnosis 43 (5), 579-595, 2023 | | 2023 |
| Monosomy 1p36: Report of a cohort of 13 Asian Indian patients N Gupta, R Kaur, S Phadke, P Sharma, S Nampoothiri, D Saxena, ... American Journal of Medical Genetics Part A 188 (4), 1317-1322, 2022 | | 2022 |
| Variants in DOK7 results in fetal akinesia deformation sequence: A case report and review of literature | | |
| Koolen-de Vries syndrome: First report of two unrelated Indian patients. | | |
| Von Hippel–Lindau (VHL) disease and VHL-associated tumors in Indian subjects: VHL gene testing in a resource constraint setting. | | |
