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BMC Medical Genomics|June 6, 2026
Characterizing SMN1 hybrid and deletion alleles using large-scale SNP array-based SMA carrier screeningNoemi Vidal-Folch, Christian Stout, Jennifer Winters, et al.
Frontiers in Genetics|August 14, 2024
SMN1 c.5C>G (p.Ala2Gly) missense variant, a challenging molecular SMA diagnosis associated with mild disease, preserves SMN nuclear gems in patient-specific fibroblastsSara L Cook, Christian Stout, Lindsey Kirkeby, et al.
Neuromuscular Disorders : NMD|December 25, 2025
Clinically discordant siblings with spinal muscular atrophy: insights from their patient-specific iPSC-derived motor neurons and literature reviewSara L Cook, Tyller Mensa, Henry Noma, et al.
Clinical Chemistry|October 25, 2018
Multiplex Droplet Digital PCR Method Applicable to Newborn Screening, Carrier Status, and Assessment of Spinal Muscular AtrophyNoemi Vidal-Folch, Dimitar Gavrilov, Kimiyo Raymond, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 4, 2025
Rethinking the pathogenicity of intragenic DMD duplications detected by carrier screening: High prevalence of nontandem duplications revealed by long-read sequencingQiliang Ding, Jagadheshwar Balan, Noemi Vidal-Folch, et al.
The Journal of Molecular Diagnostics : JMD|August 27, 2025
Clinical Assessment of Next-Generation Sequencing Probe Reproducibility in Short-Read Sequencing (ClinRay) Using Digital TwinsRohan Gnanaolivu, Neiladri Saha, Noemi Vidal-Folch, et al.
The Journal of Molecular Diagnostics : JMD|August 23, 2017
A Droplet Digital PCR Method for Severe Combined Immunodeficiency Newborn ScreeningNoemi Vidal-Folch, Dragana Milosevic, Ramanath Majumdar, et al.
Clinical Epigenetics|April 29, 2025
Thirteen cases support the clinical significance of imprinting center 1 (IC1) microdeletions in Beckwith-Wiedemann syndromeQiliang Ding, Zinandre Stander, Brandon J Elizalde, et al.
Handbook of Clinical Neurology|February 22, 2023
Laboratory and metabolic investigationsEva Morava, Devin Oglesbee
Biorxiv : the Preprint Server for Biology|February 27, 2026
Multilevel impairment of mitochondrial respiration with sex-specific signatures in inclusion body myositisIbrahim Shammas, Hazem Iaali, Jens O Watzlawik, et al.
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