Kiran Polavarapu

17PUBLICATIONS
209CO-AUTHORS
Neurology and neuromuscular diseasesMedical and biological physics not elsewhere classifiedBiomechanicsEpigenetics (incl. genome methylation and epigenomics)Central nervous system
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Publications (17)

|Jul 20, 2026
Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene.

|Dec 30, 2025
Combined Histological and Proteomic Analysis Reveals Muscle Denervation in KMT5B-Related Neurodevelopmental Disorder: A Case Report.

Ozge Aksel Kilicarslan, Andrea Gangfuß, Heike Kölbel

|Dec 26, 2025
A systematic analysis of mitochondrial aminoacyl tRNA synthetase variants in a rare disease cohort.

Thiloka E Ratnaike, M Eren Kule, Ida Paramonov

|Sep 30, 2025
An interesting report of POPDC3 limb girdle muscular dystrophy R26 from India.

Dipti Baskar, Kiran Polavarapu, Ananthapadmanabha Kotambail

|Feb 19, 2025
Dominant rhabdomyolysis linked to a recurrent ATP2A2 variant reducing SERCA2 function in muscle.

Sivasankar Malaichamy, Romane Idoux, Kiran Polavarapu

|Jan 17, 2025
Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Steven Laurie, Wouter Steyaert, Elke de Boer

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Frequent Collaborators

10 joint publications

Hanns Lochmüller

9 joint publications

Rita Horvath

6 joint publications

Atchayaram Nalini

5 joint publications

Seena Vengalil