Sheela Nampoothiri

Amrita Institute of Medical Sciences and Research Centre

Biochemistry, Genetics and Molecular BiologyMedicine

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 12 papers. Top paper: “Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology”.

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology

Nature Communications(2020)10.1038/s41467-020-18146-9

N/A

0DataRank · unranked

64 citations

Karim Harhouri, Morgane Le Mao, Geneviève Baujat, Sheela Nampoothiri, Hülya Kayserili +25 more

Protein instability associated with AARS1 and MARS1 mutations causes trichothiodystrophy

Human Molecular Genetics(2021)10.1093/hmg/ddab123

N/A

0DataRank · unranked

49 citations

Arjan F. Theil, Anja Raams, Giuseppina Caligiuri, Sarah Giachetti, Silvia Bione +15 more

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

Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta

PLoS Genetics(2021)10.1371/journal.pgen.1009339

N/A

0DataRank · unranked

24 citations

Yoshihiro Ishikawa, Jan M. Gebauer, Sergei P. Boudko, Brecht Guillemyn, Tim Van Damme +8 more

Clinical and genetic spectrum of 104 Indian families with central nervous system white matter abnormalities

Clinical Genetics(2021)10.1111/cge.14037

N/A

0DataRank · unranked

18 citations

Michelle C. do Rosario, Malavika Hebbar, Suvasini Sharma, Neethukrishna Kausthubham, Karthik Vijay Nair +27 more

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanisms

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63247

N/A

0DataRank · unranked

41 citations

Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Audrey Lawrence +92 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

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

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

Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy

European Journal of Human Genetics(2024)10.1038/s41431-024-01641-8

N/A

0DataRank · unranked

6 citations

Subrata Sabui, Hamid M. Said, Aram Niaz, Katta M. Girisha, Periyasamy Radhakrishnan +10 more

Loss of TBC1D2B causes a progressive neurological disorder with gingival overgrowth

European Journal of Human Genetics(2024)10.1038/s41431-024-01563-5

N/A

0DataRank · unranked

4 citations

Jessica E. Rexach, Stéphanie Efthymiou, Büşra Aynekin, Hüseyin Per, Ayten Güleç +12 more

Evaluating and monitoring liver disease severity in glycogen storage disease type IX: Performance of novel and established clinical scores

Genetics in Medicine Open(2025)10.1016/j.gimo.2025.103455

N/A

0DataRank · unranked

0 citations

Rebecca L. Koch, Alisha Mavis, Leticia S. Flores, Rajan T. Gupta, William R. Jeck +13 more