Michelle C. do Rosario

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 8 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

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

Variants in the zinc transporterTMEM163cause a hypomyelinating leukodystrophy

Brain(2022)10.1093/brain/awac295

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0DataRank · unranked

19 citations

Guillermo Rodríguez Bey, Bruce Nmezi, Fang Liu, Talia DeFrancesco Oranburg, Ana S.A. Cohen +13 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

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0DataRank · unranked

19 citations

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

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

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0DataRank · unranked

2 citations

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

Report of a novel recurrent homozygous variant c.620A>T in three unrelated families with thiamine metabolism dysfunction syndrome 5 and review of literature

Clinical Dysmorphology(2024)10.1097/mcd.0000000000000490

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0DataRank · unranked

1 citations

Mayuri Yeole, Lakshmi Priya Rao, Michelle C. do Rosario, Purvi Majethia, Karthik Vijay Nair +7 more

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