Diana Bharucha‐Goebel

Author

Also Known As

D. Bharucha-Goebel, D.X. Bharucha-Goebel, Diana Bharucha-Goebel, Diana Bharucha‐Goebel, Diana X Bharucha-Goebel, Diana X. Bharucha-Goebel, Diana X. Bharucha‐Goebel, Diana Xerxes Bharucha-Goebel, Diana X. Bharucha‐Goebel, Todd, Joshua J.

101

Publications

2.4K

Citations

H-Index

Concepts

All Affiliations

National Institutes of Health Children's National National Institute of Neurological Disorders and Stroke Sorbonne Université Institut de Myologie

About

Diana Bharucha‐Goebel is an author at National Institutes of Health specializing in medicine, genetics, and neurology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	6	6	200
2	Neurology	3	3	104
3	Cell Biology	2	2	87
4	Molecular Genetics	2	2	47
5	Social Sciences	1	1	54

Diana Bharucha‐Goebel

Publications

2.1K

Citations

H-Index

Page 1

	Year	Citations
The Role of <i>PIEZO2</i> in Human Mechanosensation Alexander T. Chesler, Marcin Szczot, Diana Bharucha‐Goebel, New England Journal of Medicine	2016	455
PIEZO2 mediates injury-induced tactile pain in mice and humans Marcin Szczot, Jaquette Liljencrantz, Nima Ghitani, Science Translational Medicine	2018	287
Congenital Titinopathy: Comprehensive characterization and pathogenic insights Emily C. Oates, Kristi Jones, Sandra Donkervoort, Annals of Neurology	2018	152
Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy Vanessa Schartner, Norma B. Romero, Sandra Donkervoort, Acta Neuropathologica Congenital MyopathyMendelian DisorderDegenerative DiseaseGenetic Disorder	2016	132
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials Jordi Díaz‐Manera, Roberto Fernández‐Torrón, Jaume Llauger, Journal of Neurology Neurosurgery & Psychiatry	2018	111
The Clinical Outcome Study for dysferlinopathy Elizabeth Harris, Catherine L. Bladen, Anna Mayhew, Neurology Genetics	2016	108
Severe congenital <i>RYR1</i> -associated myopathy Diana Bharucha‐Goebel, Mariarita Santi, Līvija Medne, Neurology	2013	104
Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy D T Burns, Sandra Donkervoort, Juliane Müller, The American Journal of Human Genetics	2018	89
Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease U. Moore, Heather Gordish, Jordi Díaz‐Manera, Neuromuscular Disorders	2021	62
Peripheral motor neuropathy is associated with defective kinase regulation of the KCC3 cotransporter Kristopher T. Kahle, Bianca Flores, Diana Bharucha‐Goebel, Science Signaling Exome SequencingPeripheral NervePeripheral NervesPeripheral Nervous SystemSocial Sciences	2016	54

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