Seena Vengalil

9PUBLICATIONS
72CO-AUTHORS
Neurology and neuromuscular diseasesMedical and biological physics not elsewhere classifiedMedical mycologyMedical molecular engineering of nucleic acids and proteinsMedical devices
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Publications (9)

|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.

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

Dipti Baskar, Kiran Polavarapu, Ananthapadmanabha Kotambail

|Feb 20, 2025
MICU1 related myopathy - a rare report from India.

Dipti Baskar, Suma Reddy Ganji, Aneesha Thomas

|Feb 20, 2025
A rare case of myopathy with fatigability due to PYROXD1 variation.

Dipti Baskar, Aneesha Thomas, Vijay Kumar Boddu

|Feb 23, 2023
TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease.

Lindsey Van Haute, Emily O'Connor, Héctor Díaz-Maldonado

|Jul 25, 2022
Whole exome sequencing and transcript analysis discover a novel pathogenic splice site mutation in DCAF17 gene underlying Woodhouse-Sakati syndrome.

Riyanka Kumari, Vikram V Holla, Prashant Phulpagar

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Frequent Collaborators

5 joint publications

Kiran Polavarapu

4 joint publications

Dipti Baskar

4 joint publications

Atchayaram Nalini

3 joint publications

Veeramani Preethish-Kumar