| Biallelic mutations in the death domain of PIDD1 impair caspase-2 activation and are associated with intellectual disability TI Sheikh, N Vasli, S Pastore, K Kharizi, R Harripaul, Z Fattahi, S Pande, ... Translational Psychiatry 11 (1), 1, 2021 | 15 | 2021 |
| Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling DL Narayanan, D Udyawar, P Kaur, S Sharma, N Suresh, S Nampoothiri, ... European Journal of Human Genetics 29 (12), 1774-1780, 2021 | 11 | 2021 |
| The E262K mutation in Lamin A links nuclear proteostasis imbalance to laminopathy‐associated premature aging DK Ghosh, S Pande, J Kumar, D Yesodharan, S Nampoothiri, ... Aging Cell 21 (11), e13688, 2022 | 9 | 2022 |
| Untapped opportunities for rare disease gene discovery in India KM Girisha, S Pande, A Dalal, SR Phadke Am J Med Genet A 182 (12), 3056-3059, 2020 | 4 | 2020 |
| Hedgehog acyl‐transferase‐related multiple congenital anomalies: Report of an additional family and delineation of the syndrome S Pande, P Radhakrishnan, NM Shetty, A Shukla, KM Girisha American Journal of Medical Genetics Part A 185 (9), 2756-2765, 2021 | 3 | 2021 |
| Trichothiodystrophy type 4 in an Indian family S Pande, A Shukla, KM Girisha American Journal of Medical Genetics Part A 182 (10), 2226-2229, 2020 | 3 | 2020 |
| Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B‐related BAFopathy S Pande, S Mascarenhas, A Venkatraman, V Bhat, DL Narayanan, ... American Journal of Medical Genetics Part A 191 (8), 2175-2180, 2023 | 2 | 2023 |
| Nuclear proteostasis imbalance in laminopathy‐associated premature aging diseases S Pande, DK Ghosh The FASEB Journal 37 (8), e23116, 2023 | 1 | 2023 |
| HHAT-related multiple congenital anomalies: Report of an additional family and delineation of the syndrome S Pande, P Radhakrishnan, NM Shetty, A Shukla, KM Girisha EUROPEAN JOURNAL OF HUMAN GENETICS 30 (SUPPL 1), 342-343, 2022 | 1 | 2022 |
| Genetic and phenotypic landscape of pediatric‐onset epilepsy in 142 Indian families: Counseling and therapeutic implications P Majethia, N Kaur, S Mascarenhas, LP Rao, S Pande, DL Narayanan, ... Clinical Genetics, 2024 | | 2024 |
| Report of a third family with a novel biallelic lossof-function variant causing FAM160B1-related neurodevelopmental disorder S Mascarenhas, S Pande, K Girisha, A Shukla EUROPEAN JOURNAL OF HUMAN GENETICS 32, 480-480, 2024 | | 2024 |
| De novo variants underlying syndromes with intellectual disability in a neurodevelopmental cohort from India A Shukla, S Pande, K Nair, P Majethia, LP Rao, S Mascarenhas, N Kaur, ... EUROPEAN JOURNAL OF HUMAN GENETICS 32, 468-469, 2024 | | 2024 |
| De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India S Pande, P Majethia, K Nair, LP Rao, S Mascarenhas, N Kaur, ... European Journal of Human Genetics, 1-8, 2023 | | 2023 |
| Knobloch Syndrome in Siblings with Posterior Fossa Malformations Along with Cerebellar Midline Cleft Abnormality Caused by Biallelic COL18A1 Mutation: Case-Based Review SJ Patil, S Pande, J Matalia, V Bhat, M Kekatpure, KM Girisha Journal of Pediatric Genetics, 058-063, 2020 | | 2020 |
