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Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology|March 30, 2026
Selective muscle involvement quantification in late-onset Tay Sachs and Sandhoff disease using neuromuscular ultrasound imagingAfreen Mushtaheed, Paige M Lind, Yonathan M Assefa, et al.
Plos One|March 19, 2016
ATP1A3 Mutation in Adult Rapid-Onset AtaxiaKathleen J Sweadner, Camilo Toro, Christopher T Whitlow, et al.
Human Mutation|February 2, 2012
Detecting false-positive signals in exome sequencingKarin V Fuentes Fajardo, David Adams, , et al.
The British Journal of Ophthalmology|August 6, 2020
A sialidosis type I cohort and a quantitative approach to multimodal ophthalmic imaging of the macular cherry-red spotMalena Daich Varela, Wadih M Zein, Camilo Toro, et al.
BMC Neurology|March 22, 2013
Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic originsCamilo Toro, Montse Olivé, Marinos C Dalakas, et al.
Molecular Genetics and Metabolism|February 6, 2016
The NIH Undiagnosed Diseases Program and Network: Applications to modern medicineWilliam A Gahl, John J Mulvihill, Camilo Toro, et al.
BMC Genomics|January 26, 2024
LUSTR: a new customizable tool for calling genome-wide germline and somatic short tandem repeat variantsJinfeng Lu, Camilo Toro, David R Adams, et al.
Molecular Genetics and Metabolism|October 24, 2020
Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndromeThomas Johnstone, Jennifer Wang, Daron Ross, et al.
Channels (Austin, Tex.)|August 11, 2025
BK channel activity in skin fibroblasts from patients with neurological disorderRia L Dinsdale, Thomas R Middendorf, Deborah Disilvestre, et al.
Birth Defects Research|October 19, 2019
Circle of Willis anomalies in Turner syndrome: Absent A1 segment of the anterior cerebral arteryPaul Kruszka, Ashley Buscetta, Maria T Acosta, et al.
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