🏆 Finalist — NIH Data Sharing Index (“S-Index”) Challenge

Dhanya Lakshmi Narayanan

Manipal Academy of Higher Education

ORCID: 0000-0002-1627-3252

Also affiliated with The University of Melbourne, Walter and Eliza Hall Institute of Medical Research, Hudson Institute of Medical Research, Kasturba Medical College, Manipal

Biochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile
0Author DataRank

Indexed papers

0in pilot corpus
datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 13 papers. Top paper: “Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling”.

Multilocus disease-causing genomic variations for Mendelian disorders: role of systematic phenotyping and implications on genetic counselling

European Journal of Human Genetics(2021)10.1038/s41431-021-00933-7
N/A
0DataRank · unranked
43 citations

Divya Udyawar, Parneet Kaur, Suvasini Sharma, Narayanaswamy Suresh, Sheela Nampoothiri +12 more

Further evidence of affected females with a heterozygous variant in FGF13 causing X-linked developmental and epileptic encephalopathy 90

European Journal of Medical Genetics(2021)10.1016/j.ejmg.2021.104403
N/A
0DataRank · unranked
15 citations

Purvi Majethia, Shrikiran Aroor, Shahyan Siddiqui, Ashwin Dalal, Anju Shukla +1 more

Report of rapid diagnosis and precise management of MMADHC-related intracellular cobalamin defect

BMJ Case Reports(2021)10.1136/bcr-2020-239755
N/A
0DataRank · unranked
1 citations

Dhanya Lakshmi Narayanan, Anju Shukla, Vivekananda Bhat

Bi-allelic variants in CHKA cause a neurodevelopmental disorder with epilepsy and microcephaly

Brain(2022)10.1093/brain/awac074
N/A
0DataRank · unranked
15 citations

J. Pedro Fernández-Murray, Mahtab Tavasoli, Heinrich Sticht, Gisela Stoltenburg‐Didinger, Leila Motlagh Scholle +24 more

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India

European Journal of Human Genetics(2023)10.1038/s41431-023-01513-7
N/A
0DataRank · unranked
19 citations

Purvi Majethia, Karthik Vijay Nair, Lakshmi Priya Rao, Selinda Mascarenhas, Namanpreet Kaur +26 more

Further validation of craniosynostosis as a part of phenotypic spectrum of BCL11B‐related BAFopathy

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63330
N/A
0DataRank · unranked
5 citations

Selinda Mascarenhas, A. Venkatraman, Vivekananda Bhat, Dhanya Lakshmi Narayanan, Shahyan Siddiqui +4 more

Extended analysis of exome sequencing data reveals a novel homozygous deletion of exons 3 and 4 in FUCA1 gene causing fucosidosis in an Indian family

Clinical Dysmorphology(2023)10.1097/mcd.0000000000000452
N/A
0DataRank · unranked
4 citations

Greeshma Purushothama, Dhanya Lakshmi Narayanan, Shahyan Siddiqui, Katta M. Girisha, Anju Shukla +1 more

Further evidence of biallelic variants in KCNK18 as a cause of intellectual disability and epilepsy with febrile seizure plus

Clinical Dysmorphology(2023)10.1097/mcd.0000000000000463
N/A
0DataRank · unranked
3 citations

Rhea Harish, Dhanya Lakshmi Narayanan, B.L. Yatheesha, Suvasini Sharma, Anju Shukla +1 more

Genetic and phenotypic landscape of pediatric‐onset epilepsy in 142 Indian families: Counseling and therapeutic implications

Clinical Genetics(2024)10.1111/cge.14495
N/A
0DataRank · unranked
7 citations

Namanpreet Kaur, Selinda Mascarenhas, Lakshmi Priya Rao, Shruti Pande, Dhanya Lakshmi Narayanan +27 more

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants

European Journal of Neurology(2024)10.1111/ene.70025
N/A
0DataRank · unranked
6 citations

Chloé Angelini, Claire Bar, Wahiba Amer El Khedoud, Christine Barnérias, Razika Boulariah‐Hadjou +15 more

Neuroimaging to Genotype: Delineating the Spectrum of Disorders With Deficient Myelination in the Indian Population

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63914
N/A
0DataRank · unranked
2 citations

Michelle C. do Rosario, Purvi Majethia, Selinda Mascarenhas, Lakshmi Priya Rao, Karthik Vijay Nair +17 more

Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A

Neurogenetics(2024)10.1007/s10048-024-00743-1
N/A
0DataRank · unranked
1 citations

Khyati Arora, Periyasamy Radhakrishnan, Dhanya Lakshmi Narayanan, Anju Shukla, Namanpreet Kaur

c.202_204del in NUP214 causes late onset form of febrile encephalopathy

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63529
N/A
0DataRank · unranked
1 citations

Dhanya Lakshmi Narayanan, Selinda Mascarenhas, Michelle C. do Rosario, Karthik Vijay Nair, Radhakrishnan Periyasamy +2 more