Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
American Journal Of Human Genetics
Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,
Burst-Like Transcription of Mutant and Wildtype MYH7-Alleles as Possible Origin of Cell-to-Cell Contractile Imbalance in Hypertrophic Cardiomyopathy.
Frontiers In Physiology
Montag, Judith J; Kowalski, Kathrin K; Makul, Mirza M; Ernstberger, Pia P; Radocaj, Ante A; Beck, Julia J; Becker, Edgar E; Tripathi, Snigdha S; Keyser, Britta B; Mühlfeld, Christian C; Wissel, Kirsten K; Pich, Andreas A; van der Velden, Jolanda J; Dos Remedios, Cristobal G CG; Perrot, Andreas A; Francino, Antonio A; Navarro-López, Francesco F; Brenner, Bernhard B; Kraft, Theresia T
Intrinsic MYH7 expression regulation contributes to tissue level allelic imbalance in hypertrophic cardiomyopathy.
Journal Of Muscle Research And Cell Motility
Montag, Judith J; Syring, Mandy M; Rose, Julia J; Weber, Anna-Lena AL; Ernstberger, Pia P; Mayer, Anne-Kathrin AK; Becker, Edgar E; Keyser, Britta B; Dos Remedios, Cristobal C; Perrot, Andreas A; van der Velden, Jolanda J; Francino, Antonio A; Navarro-Lopez, Francesco F; Ho, Carolyn Yung CY; Brenner, Bernhard B; Kraft, Theresia T