| Cardiac spectrum, cytogenetic analysis and thyroid profile of 418 children with Down syndrome from South India: a cross-sectional study DL Narayanan, D Yesodharan, M Kappanayil, S Kuthiroly, MV Thampi, ... The Indian Journal of Pediatrics 81, 547-551, 2014 | 27 | 2014 |
| Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy E Botta, AF Theil, A Raams, G Caligiuri, S Giachetti, S Bione, M Accadia, ... Human Molecular Genetics 30 (18), 1711-1720, 2021 | 26 | 2021 |
| Jansen metaphyseal chondrodysplasia due to heterozygous H223R-PTH1R mutations with or without overt hypercalcemia S Nampoothiri, E Fernández-Rebollo, D Yesodharan, TJ Gardella, ... The Journal of Clinical Endocrinology & Metabolism 101 (11), 4283-4289, 2016 | 26 | 2016 |
| Turner syndrome in diverse populations P Kruszka, YA Addissie, C Tekendo‐Ngongang, KL Jones, SK Savage, ... American Journal of Medical Genetics Part A 182 (2), 303-313, 2020 | 24 | 2020 |
| Eight years experience from a skeletal dysplasia referral center in a tertiary hospital in Southern India: a model for the diagnosis and treatment of rare diseases in a … S Nampoothiri, D Yesodharan, G Sainulabdin, D Narayanan, ... American Journal of Medical Genetics Part A 164 (9), 2317-2323, 2014 | 21 | 2014 |
| Ptosis as a unique hallmark for autosomal recessive WNT1‐associated osteogenesis imperfecta S Nampoothiri, B Guillemyn, N Elcioglu, S Jagadeesh, D Yesodharan, ... American Journal of Medical Genetics Part A 179 (6), 908-914, 2019 | 17 | 2019 |
| Osteoglophonic dysplasia: phenotypic and radiological clues S Kuthiroly, D Yesodharan, A Ghosh, KE White, S Nampoothiri Journal of pediatric genetics 6 (04), 247-251, 2017 | 17 | 2017 |
| Elsahy–Waters syndrome is caused by biallelic mutations in CDH11 FL Harms, S Nampoothiri, S Anazi, D Yesodharan, M Alawi, K Kutsche, ... American journal of medical genetics Part A 176 (2), 477-482, 2018 | 14 | 2018 |
| Lipoprotein lipase deficiency S Kuthiroly, D Yesodharan, N Radhakrishnan, A Ganapathy, AU Mannan, ... The Indian Journal of Pediatrics 88, 147-153, 2021 | 13 | 2021 |
| Fabry disease in India: A multicenter study of the clinical and mutation spectrum in 54 patients S Nampoothiri, D Yesodharan, A Bhattacherjee, H Ahamed, RD Puri, ... JIMD reports 56 (1), 82-94, 2020 | 13 | 2020 |
| Novel biallelic variants expand the SLC5A6-related phenotypic spectrum T Holling, S Nampoothiri, B Tarhan, PE Schneeberger, KP Vinayan, ... European Journal of Human Genetics 30 (4), 439-449, 2022 | 12 | 2022 |
| Does the clinical phenotype of mucolipidosis-IIIγ differ from its αβ counterpart?: supporting facts in a cohort of 18 patients S Nampoothiri, NH Elcioglu, SS Koca, D Yesodharan, KK Chandrababu, ... Clinical dysmorphology 28 (1), 7-16, 2019 | 12 | 2019 |
| Cortical atrophy and hypofibrinogenemia due to FGG and TBCD mutations in a single family: a case report J Stephen, S Nampoothiri, KP Vinayan, D Yesodharan, P Remesh, ... BMC medical genetics 19, 1-6, 2018 | 10 | 2018 |
| Subtelomeric rearrangements in Indian children with idiopathic intellectual disability/developmental delay: Frequency estimation & clinical correlation using fluorescence: in … S Mohan, T Koshy, P Vekatachalam, S Nampoothiri, D Yesodharan, ... Indian Journal of Medical Research 144 (2), 206-214, 2016 | 10 | 2016 |
| 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 |
| Biallelic variants in VPS50 cause a neurodevelopmental disorder with neonatal cholestasis PE Schneeberger, S Nampoothiri, T Holling, D Yesodharan, M Alawi, ... Brain 144 (10), 3036-3049, 2021 | 6 | 2021 |
| Goltz-Gorlin syndrome: revisiting the clinical spectrum D Yesodharan, UM Büschenfelde, K Kutsche, K Mohandas Nair, ... The Indian Journal of Pediatrics 85, 1067-1072, 2018 | 6 | 2018 |
| Plexiform neurofibroma of clitoris D Yesodharan, B Sudarsanan, A Jojo, M Abraham, N Bhavani, ... Journal of Pediatric Genetics 6 (04), 244-246, 2017 | 6 | 2017 |
| Recurrence of Angelman syndrome in siblings: challenges in genetic counseling D Yesodharan, MV Thampi, T Koshy, S Nampoothiri The Indian Journal of Pediatrics 81, 292-295, 2014 | 6 | 2014 |
| Novel truncating mutation in TENM3 in siblings with motor developmental delay, ocular coloboma, oval cornea, without microphthalmia J Stephen, S Nampoothiri, S Kuppa, D Yesodharan, N Radhakrishnan, ... American Journal of Medical Genetics Part A 176 (12), 2930-2933, 2018 | 5 | 2018 |
