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Scientific Reports|December 3, 2017
Combined genetic approaches yield a 48% diagnostic rate in a large cohort of French hearing-impaired patientsD Baux, C Vaché, C Blanchet, et al.
Circulation|January 11, 2000
Spectrum of ST-T-wave patterns and repolarization parameters in congenital long-QT syndrome: ECG findings identify genotypesL Zhang, K W Timothy, G M Vincent, et al.
Plos Pathogens|November 3, 2020
Veterinary trypanocidal benzoxaboroles are peptidase-activated prodrugsFederica Giordani, Daniel Paape, Isabel M Vincent, et al.
Molecular Oncology|April 14, 2023
RNA cytosine methyltransferase NSUN5 promotes protein synthesis and tumorigenic phenotypes in glioblastomaJiesi Zhou, Yan Shu Kong, Krista M Vincent, et al.
International Journal of Pediatric Otorhinolaryngology|June 19, 2023
Audiological phenotyping evaluation in KBG syndrome: Description of a multicenter reviewL Rhamati, A Marcolla, A M Guerrot, et al.
Nature Communications|May 20, 2020
Translational control of breast cancer plasticityMichael Jewer, Laura Lee, Matthew Leibovitch, et al.
ESMO Open|August 15, 2025
Endocrine response assessment in HR-positive HER2-negative early breast cancer: concordance of local versus central Ki67 measurements in the WSG ADAPTcycle trial (n = 5292)M Hamann, M Christgen, O Gluz, et al.
Human Mutation|October 13, 2018
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretationEdgar A Rivera-Muñoz, Laura V Milko, Steven M Harrison, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 5, 2018
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert PanelMelissa A Kelly, Colleen Caleshu, Ana Morales, et al.
Circulation|January 4, 2001
Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmiasP J Schwartz, S G Priori, C Spazzolini, et al.
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