| 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 | 17 | 2021 |
| Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5 HC Happ, LG Sadleir, M Zemel, G de Valles-Ibáñez, MS Hildebrand, ... Neurology 100 (6), e603-e615, 2023 | 14 | 2023 |
| NAD (P) HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature P Majethia, S Mishra, LP Rao, R Rao, A Shukla European journal of medical genetics 64 (9), 104266, 2021 | 10 | 2021 |
| Expanding the electro-clinical phenotype of CARS2associated neuroregression D Kapoor, P Majethia, A Anand, A Shukla, S Sharma Epilepsy & Behavior Reports 16, 100485, 2021 | 9 | 2021 |
| Further evidence of muscle involvement in neurodevelopmental disorder with epilepsy, spasticity, and brain atrophy P Majethia, MC Do Rosario, P Kaur, Karanvir, R Shankar, S Sharma, ... Annals of human genetics 86 (2), 94-101, 2022 | 8 | 2022 |
| Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90 DL Narayanan, P Majethia, A Shrikiran, S Siddiqui, A Dalal, A Shukla European journal of medical genetics 65 (1), 104403, 2022 | 8 | 2022 |
| Biallelic start loss variant, c.1A > G in GCSH is associated with variant nonketotic hyperglycinemia P Majethia, PH Somashekar, M Hebbar, R Kadavigere, BK Praveen, ... Clinical genetics 100 (2), 201-205, 2021 | 7 | 2021 |
| Second report of SHMT2 related neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities P Majethia, V Bhat, BL Yatheesha, S Siddiqui, A Shukla European Journal of Medical Genetics 65 (6), 104481, 2022 | 5 | 2022 |
| KCTD7-related progressive myoclonic epilepsy: report of three Indian families and review of literature DL Narayanan, PH Somashekar, P Majethia, A Shukla Clinical dysmorphology 31 (1), 6-10, 2022 | 5 | 2022 |
| 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 32 (10), 1291-1298, 2024 | 4 | 2024 |
| Wiedemann–Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A P Majethia, KM Girisha American Journal of Medical Genetics Part A 185 (5), 1602-1605, 2021 | 3 | 2021 |
| Neurodegeneration with brain iron accumulation: a case series highlighting phenotypic and genotypic diversity in 20 Indian families H Sait, S Srivastava, M Pandey, D Ravichandran, A Shukla, K Mandal, ... neurogenetics 24 (2), 113-127, 2023 | 2 | 2023 |
| HBB gene mutation spectrum in an Indian cohort of 1530 cases using an in-house targeted next-generation sequencing assay K Kelkar, V Ramanan, S Anand, P Majethia, S Ranade, K Patil, ... Journal of Hematopathology 13 (4), 239-248, 2020 | 2 | 2020 |
| 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 105 (6), 639-654, 2024 | 1 | 2024 |
| Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus P Majethia, R Harish, DL Narayanan, BL Yatheesha, S Sharma, A Shukla Clinical Dysmorphology 32 (4), 147-150, 2023 | 1 | 2023 |
| From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants M Degoutin, C Angelini, C Bar, WA El Khedoud, C Barnerias, ... European Journal of Neurology 32 (1), e70025, 2025 | | 2025 |
| Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects EA Werren, G Rodriguez Bey, P Majethia, P Kaur, SJ Patil, MV Kekatpure, ... Brain 147 (12), 4033-4042, 2024 | | 2024 |
| Report of a novel recurrent homozygous variant c. 620A> T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature S Mascarenhas, M Yeole, LP Rao, MC do Rosario, P Majethia, KV Nair, ... Clinical Dysmorphology 33 (4), 160-166, 2024 | | 2024 |
| P21. 005. A CHD8 missense variants cause a variable neurodevelopmental disorder with incomplete penetrance M Godfrey, M Levy, E Leonardi, C Campbell, L Demain, S Jenkinson, ... European Journal of Human Genetics 32 (Supplement 1), 721, 2024 | | 2024 |
| Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population N Kaur, MC do Rosario, P Majethia, S Mascarenhas, LP Rao, KV Nair, ... American Journal of Medical Genetics Part A, e63914, 2024 | | 2024 |
