Periyasamy Radhakrishnan

Also affiliated with University Hospital of Basel, Department of Biomedicine Basel, Kasturba Medical College, Manipal

MedicineBiochemistry, 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 11 papers. Top paper: “Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis”.

Mutations in MYLPF Cause a Novel Segmental Amyoplasia that Manifests as Distal Arthrogryposis

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.06.014

N/A

0DataRank · unranked

34 citations

Jared C. Talbot, Emily M. Teets, Samantha Beck Previs, Brit L. Martin, Kathryn M. Shively +26 more

Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.05.06.071555

N/A

0DataRank · unranked

1 citations

Jared C. Talbot, Emily M. Teets, Samantha Beck Previs, Brit L. Martin, Kathryn M. Shively +26 more

Response to Hall et al.

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.006

N/A

0DataRank · unranked

0 citations

Jared C. Talbot, Emily M. Teets, Samantha Beck Previs, Brit L. Martin, Kathryn M. Shively +26 more

Hedgehog acyl‐transferase‐related multiple congenital anomalies: Report of an additional family and delineation of the syndrome

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62186

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0DataRank · unranked

4 citations

Periyasamy Radhakrishnan, Naveenchandra M. Shetty, Anju Shukla, Katta M. Girisha, Shruti Pande

Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.11.007

N/A

0DataRank · unranked

7 citations

Robert Kopajtich, Leigh Demain, Alessandro Rea, Huw B. Thomas, Manuel Schiff +34 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

Genome sequencing enables diagnosis and treatment of SLC5A6 neuropathy

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

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0DataRank · unranked

6 citations

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

Biallelic Variants in LRRC45 Impair Ciliogenesis and Cause a Severe Neurological Disorder

Clinical Genetics(2024)10.1111/cge.14663

N/A

0DataRank · unranked

2 citations

Neha Quadri, Florian Erger, Nico Fuhrmann, Otilia‐Maria Geist, Christian Netzer +10 more

Biallelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype

medRxiv(2024)10.1101/2024.08.19.24312079

N/A

0DataRank · unranked

2 citations

Robert Kopajtich, Leigh Demain, Alessandro Rea, Huw B. Thomas, Manuel Schiff +35 more

Basic helix-loop-helix transcription factor BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, tone and movement abnormalities

medRxiv(2024)10.1101/2024.10.11.24312856

N/A

0DataRank · unranked

2 citations

Emanuela Argilli, Elizabeth George, Tuğba Kalaycı, Zehra Oya Uyguner, Birsen Karaman +21 more

Biallelic Variant, c.644‐13_644‐9del in UNC50 Is Associated With Congenital Myasthenia Syndrome

American Journal of Medical Genetics Part A(2025)10.1002/ajmg.a.64086

N/A

0DataRank · unranked

2 citations

Greeshma Purushothama, Periyasamy Radhakrishnan, Malavika Hebbar, Shyamala Guruvare, Mary Mathew +6 more