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 |
Exome sequencing for perinatal phenotypes: the significance of deep phenotyping S Aggarwal, VS Vineeth, A Das Bhowmik, A Tandon, A Kulkarni, ... Prenatal Diagnosis 40 (2), 260-273, 2020 | 21 | 2020 |
Computer-aided facial analysis in diagnosing dysmorphic syndromes in Indian children DL Narayanan, P Ranganath, S Aggarwal, A Dalal, SR Phadke, K Mandal Indian Pediatrics 56, 1017-1019, 2019 | 21 | 2019 |
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 |
Bain type of X‐linked syndromic mental retardation in a male with a pathogenic variant in HNRNPH2 PH Somashekar, DL Narayanan, S Jagadeesh, B Suresh, RD Vaishnavi, ... American Journal of Medical Genetics Part A 182 (1), 183-188, 2020 | 18 | 2020 |
Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy DL Narayanan, D Matta, N Gupta, M Kabra, P Ranganath, S Aggarwal, ... Journal of Human Genetics 64 (4), 323-331, 2019 | 17 | 2019 |
Report of second case and clinical and molecular characterization of Eiken syndrome A Moirangthem, DL Narayanan, P Jacob, G Nishimura, G Mortier, ... Clinical Genetics 94 (5), 457-460, 2018 | 17 | 2018 |
Phenotypic diversity and genetic complexity of PAX3‐related Waardenburg syndrome PH Somashekar, P Upadhyai, DL Narayanan, N Kamath, S Bajaj, ... American Journal of Medical Genetics Part A 182 (12), 2951-2958, 2020 | 14 | 2020 |
Hotspots in PTPN11 gene among Indian children with Noonan syndrome DL Narayanan, H Pandey, A Moirangthem, K Mandal, R Gupta, RD Puri, ... Indian Pediatrics 54, 638-640, 2017 | 14 | 2017 |
Next generation sequencing in diagnosis of MLPA negative cases presenting as Duchenne/Becker muscular dystrophies B Singh, K Mandal, M Lallar, DL Narayanan, S Mishra, PS Gambhir, ... The Indian Journal of Pediatrics 85, 309-310, 2018 | 12 | 2018 |
Familial choreoathetosis due to novel heterozygous mutation in PDE10A DL Narayanan, D Deshpande, A Das Bhowmik, DR Varma, A Dalal American Journal of Medical Genetics Part A 176 (1), 146-150, 2018 | 12 | 2018 |
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 |
Genetic disorders with central nervous system white matter abnormalities: An update A Shukla, P Kaur, DL Narayanan, MC do Rosario, R Kadavigere, ... Clinical genetics 99 (1), 119-132, 2021 | 11 | 2021 |
Concepts, utility and limitations of cord blood banking: What clinicians need to know DL Narayanan, SR Phadke The Indian Journal of Pediatrics 86, 44-48, 2019 | 11 | 2019 |
A novel variant in MED12 gene: Further delineation of phenotype DL Narayanan, SR Phadke American Journal of Medical Genetics Part A 173 (8), 2257-2260, 2017 | 11 | 2017 |
Genomic Testing for Diagnosis of Genetic Disorders in Children: Chromosomal Microarray and Next—Generation Sequencing DL Narayanan, KM Girisha Indian Pediatrics 57 (6), 549-554, 2020 | 7 | 2020 |
Burn‐McKeown syndrome with biallelic promoter type 2 deletion in TXNL4A in two siblings DL Narayanan, G Purushothama, GSL Bhavani, A Shukla American Journal of Medical Genetics Part A 182 (6), 1313-1315, 2020 | 7 | 2020 |
A novel bi‐allelic loss‐of‐function variant in MYOD1: Further evidence for gene‐disease association and phenotypic variability in MYOD1‐related myopathy. A Shukla, DL Narayanan, U Asher, KM Girisha Clinical Genetics 96 (3), 2019 | 7 | 2019 |
Malan syndrome: Extension of genotype and phenotype spectrum A Rai, DL Narayanan, SR Phadke American Journal of Medical Genetics Part A 176 (12), 2896-2900, 2018 | 7 | 2018 |
Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly C Klöckner, JP Fernández-Murray, M Tavasoli, H Sticht, ... Brain 145 (6), 1916-1923, 2022 | 6 | 2022 |