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

Purvi Majethia

Manipal Academy of Higher Education

ORCID: 0000-0002-2364-4111

Also affiliated with 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 15 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

NAD(P)HX dehydratase (NAXD) deficiency due to a novel biallelic missense variant and review of literature

European Journal of Medical Genetics(2021)10.1016/j.ejmg.2021.104266

N/A

0DataRank · unranked

17 citations

Shivani Mishra, Lakshmi Priya Rao, Raghavendra Rao, Anju Shukla, Purvi Majethia

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

Biallelic start loss variant, c. 1A > G in GCSH is associated with variant nonketotic hyperglycinemia

Clinical Genetics(2021)10.1111/cge.13970

N/A

0DataRank · unranked

9 citations

Puneeth H. Somashekar, Malavika Hebbar, Rajagopal Kadavigere, B. K. Praveen, Katta M. Girisha +2 more

Wiedemann–Rautenstrauch syndrome in an Indian patient with biallelic pathogenic variants in POLR3A

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62115

N/A

0DataRank · unranked

7 citations

Katta M. Girisha, Purvi Majethia

Neurodevelopmental and Epilepsy Phenotypes in Individuals With Missense Variants in the Voltage-Sensing and Pore Domains of KCNH5

Neurology(2022)10.1212/wnl.0000000000201492

N/A

0DataRank · unranked

24 citations

Lynette G. Sadleir, Matthew Zemel, Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Allyn McConkie‐Rosell +50 more

Second report of SHMT2 related neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities

European Journal of Medical Genetics(2022)10.1016/j.ejmg.2022.104481

N/A

0DataRank · unranked

9 citations

Vivekananda Bhat, B.L. Yatheesha, Shahyan Siddiqui, Anju Shukla, Purvi Majethia

Missense variants in the voltage sensing and pore domain of KCNH5 cause neurodevelopmental phenotypes including epilepsy

medRxiv(2022)10.1101/2022.04.26.22274147

N/A

0DataRank · unranked

0 citations

Lynette G. Sadleir, Matthew Zemel, Guillem de Valles‐Ibáñez, Michael S. Hildebrand, Allyn McConkie‐Rosell +49 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 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

Biallelic EPB41L3 variants underlie a developmental disorder with seizures and myelination defects

Brain(2024)10.1093/brain/awae299

N/A

0DataRank · unranked

3 citations

Guillermo Rodríguez Bey, Purvi Majethia, Parneet Kaur, Siddaramappa J. Patil, Minal Kekatpure +18 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

N/A

0DataRank · unranked

1 citations

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