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Medrxiv : the Preprint Server for Health Sciences|May 15, 2024
Systematic large-scale application of ClinGen InSiGHT APC -specific ACMG/AMP variant classification criteria substantially alleviates the burden of variants of uncertain significance in ClinVar and LOVD databasesXiaoyu Yin, Marcy Richardson, Andreas Laner, et al.
Physiological Measurement|May 21, 2024
Highly comparative time series analysis of oxygen saturation and heart rate to predict respiratory outcomes in extremely preterm infantsJiaxing Qiu, Juliann M Di Fiore, Narayanan Krishnamurthi, et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology|August 14, 2019
Type 8 long QT syndrome: pathogenic variants in CACNA1C-encoded Cav1.2 cluster in STAC protein binding siteGreg J Mellor, Pankaj Panwar, Andrea K Lee, et al.
JAMA Cardiology|April 5, 2023
Association of the Timing and Extent of Cardiac Implantable Electronic Device Infections With MortalityHui-Chen Han, Jia Wang, David H Birnie, et al.
Heart Rhythm|November 3, 2019
2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy: Executive summaryJeffrey A Towbin, William J McKenna, Dominic J Abrams, et al.
Circulation. Arrhythmia and Electrophysiology|August 11, 2017
Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation?Jason D Roberts, Andrew D Krahn, Michael J Ackerman, et al.
American Journal of Human Genetics|November 8, 2018
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal NeuropathyKatharina Danhauser, Bader Alhaddad, Christine Makowski, et al.
Human Mutation|June 20, 2019
Mutations in GDF11 and the extracellular antagonist, Follistatin, as a likely cause of Mendelian forms of orofacial clefting in humansTimothy C Cox, Andrew C Lidral, Jason C McCoy, et al.
CJC Open|September 18, 2023
Rationale and Design of the Randomized Bayesian Multicenter COME-TAVI Trial in Patients With a New Onset Left Bundle Branch BlockLena Rivard, Isabelle Nault, Andrew D Krahn, et al.
Heart Rhythm|May 13, 2019
2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathyJeffrey A Towbin, William J McKenna, Dominic J Abrams, et al.
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