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An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics

Acta neuropathologica communications, 2021-05, Vol.9 (1), p.98-20, Article 98

2021

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Targeting Mitochondrial Impairment in Parkinson's Disease: Challenges and Opportunities

Frontiers in cell and developmental biology, 2021-01, Vol.8, p.615461-615461

2021

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A novel approach to unsupervised pattern discovery in speech using Convolutional Neural Network

Computer speech & language, 2022-01, Vol.71, p.101259, Article 101259

2022

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Myelin protein zero–related autosomal dominant peripheral neuropathy presenting as hereditary neuropathy with liability to pressure palsies

Muscle & nerve, 2023-09, Vol.68 (3), p.E34-E36

2023

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Optimizing Nutrition in Preterm Low Birth Weight Infants-Consensus Summary

Frontiers in nutrition (Lausanne), 2017-05, Vol.4, p.20-20

2017

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New insights into the complex role of mitochondria in Parkinson's disease

Progress in neurobiology, 2019-06, Vol.177, p.73-93

2019

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Reduced acetylated α-tubulin in SPAST hereditary spastic paraplegia patient PBMCs

Frontiers in neuroscience, 2023-03, Vol.17, p.1073516-1073516

2023

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Informing a value care model: lessons from an integrated adult neurogenomics clinic

Internal medicine journal, 2023-12, Vol.53 (12), p.2198-2207

2023

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Pharmacological rescue of mitochondrial and neuronal defects in SPG7 hereditary spastic paraplegia patient neurons using high throughput assays

Frontiers in neuroscience, 2023-09, Vol.17, p.1231584-1231584

2023

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Genetics of Parkinson disease and other movement disorders

Current opinion in neurology, 2012-08, Vol.25 (4), p.466-474

2012

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A robust unsupervised pattern discovery and clustering of speech signals

Pattern recognition letters, 2018-12, Vol.116, p.254-261

2018

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Oxygen for the delivery room respiratory support of moderate‐to‐late preterm infants. An international survey of clinical practice from 21 countries

Acta Paediatrica, 2021-12, Vol.110 (12), p.3261-3268

2021

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Next-Generation Sequencing and Emerging Technologies

Seminars in thrombosis and hemostasis, 2019-10, Vol.45 (7), p.661-673

2019

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Racially equitable diagnosis of cystic fibrosis using next-generation DNA sequencing: a case report

BMC pediatrics, 2021-03, Vol.21 (1), p.154-154, Article 154

2021

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Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review

Genes, 2023-09, Vol.14 (9), p.1756

2023

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New gene implicated in early‐onset generalized dystonia: Lysine‐specific methyltransferase 2B (KMT2B)

Movement disorders, 2017-03, Vol.32 (3), p.395-395

2017

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Motor Evoked Potentials in Hereditary Spastic Paraplegia—A Systematic Review

Frontiers in neurology, 2019-09, Vol.10, p.967-967

2019

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Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia

Journal of neurology, 2013-10, Vol.260 (10), p.2516-2522

2013

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Newborn Screening for Congenital Adrenal Hyperplasia in India: What Do We Need to Watch Out for?

Journal of obstetrics and gynaecology of India, 2016-12, Vol.66 (6), p.415-419

2016

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Ankyloglossia in infancy: An Indian experience

Indian pediatrics, 2017-02, Vol.54 (2), p.125-127

2017

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Home Vaccination - The way forward in a Pandemic

Indian pediatrics, 2021-10, Vol.58 (10), p.998-998

Kumar, R. Kishore

2021

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Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing

Neurogenetics, 2016-10, Vol.17 (4), p.265-270

2016

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Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2)

NPJ Parkinson's Disease, 2023-06, Vol.9 (1), p.100-5, Article 100

2023

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Transoral versus extraoral approach for mandibular angle fractures: A comparative study

Indian journal of plastic surgery, 2014-09, Vol.47 (3), p.354-361

2014

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An update on the neurological short tandem repeat expansion disorders and the emergence of long-read sequencing diagnostics

Targeting Mitochondrial Impairment in Parkinson's Disease: Challenges and Opportunities

A novel approach to unsupervised pattern discovery in speech using Convolutional Neural Network

Myelin protein zero–related autosomal dominant peripheral neuropathy presenting as hereditary neuropathy with liability to pressure palsies

Optimizing Nutrition in Preterm Low Birth Weight Infants-Consensus Summary

New insights into the complex role of mitochondria in Parkinson's disease

Reduced acetylated α-tubulin in SPAST hereditary spastic paraplegia patient PBMCs

Informing a value care model: lessons from an integrated adult neurogenomics clinic

Pharmacological rescue of mitochondrial and neuronal defects in SPG7 hereditary spastic paraplegia patient neurons using high throughput assays

Genetics of Parkinson disease and other movement disorders

A robust unsupervised pattern discovery and clustering of speech signals

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene

Oxygen for the delivery room respiratory support of moderate‐to‐late preterm infants. An international survey of clinical practice from 21 countries

Next-Generation Sequencing and Emerging Technologies

Racially equitable diagnosis of cystic fibrosis using next-generation DNA sequencing: a case report

Outcome Measures and Biomarkers for Clinical Trials in Hereditary Spastic Paraplegia: A Scoping Review

New gene implicated in early‐onset generalized dystonia: Lysine‐specific methyltransferase 2B (KMT2B)

Motor Evoked Potentials in Hereditary Spastic Paraplegia—A Systematic Review

Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia

Newborn Screening for Congenital Adrenal Hyperplasia in India: What Do We Need to Watch Out for?

Ankyloglossia in infancy: An Indian experience

Home Vaccination - The way forward in a Pandemic

Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing

Elucidating causative gene variants in hereditary Parkinson's disease in the Global Parkinson's Genetics Program (GP2)

Transoral versus extraoral approach for mandibular angle fractures: A comparative study

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