Publications:

Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.

European Heart Journal

Marston, Nicholas A NA; Han, Larry L; Olivotto, Iacopo I; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Ingles, Jodie J; Semsarian, Christopher C; Jacoby, Daniel D; Colan, Steven D SD; Rossano, Joseph W JW; Wittekind, Samuel G SG; Ware, James S JS; Saberi, Sara S; Helms, Adam S AS; Ho, Carolyn Y CY

Publication Date: 2021-05-21

Variant appearance in text: MYH7: 968T>A; Ile323Asn

PubMed Link: 33769460

Variant Present in the following documents:

• ehab148_supplementary_appendix.pdf

View BVdb publication page

Genotype and Lifetime Burden of Disease in Hypertrophic Cardiomyopathy: Insights from the Sarcomeric Human Cardiomyopathy Registry (SHaRe).

Circulation

Ho, Carolyn Y CY; Day, Sharlene M SM; Ashley, Euan A EA; Michels, Michelle M; Pereira, Alexandre C AC; Jacoby, Daniel D; Cirino, Allison L AL; Fox, Jonathan C JC; Lakdawala, Neal K NK; Ware, James S JS; Caleshu, Colleen A CA; Helms, Adam S AS; Colan, Steven D SD; Girolami, Francesca F; Cecchi, Franco F; Seidman, Christine E CE; Sajeev, Gautam G; Signorovitch, James J; Green, Eric M EM; Olivotto, Iacopo I

Publication Date: 2018-10-02

Variant appearance in text: MYH7: 968T>A; Ile323Asn

PubMed Link: 30297972

Variant Present in the following documents:

• cir-138-1387-s001.pdf

View BVdb publication page

Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

Elife

Alamo, Lorenzo L; Ware, James S JS; Pinto, Antonio A; Gillilan, Richard E RE; Seidman, Jonathan G JG; Seidman, Christine E CE; Padrón, Raúl R

Publication Date: 2017-06-13

Variant appearance in text: MYH7: I323N

PubMed Link: 28606303

Variant Present in the following documents:

• Main text
• elife-24634.pdf

View BVdb publication page

PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.

Plos Computational Biology

Bendl, Jaroslav J; Musil, Miloš M; Štourač, Jan J; Zendulka, Jaroslav J; Damborský, Jiří J; Brezovský, Jan J

Publication Date: 2016-05

Variant appearance in text: MYH7: I323N

PubMed Link: 27224906

Variant Present in the following documents:

• pcbi.1004962.s004.xlsx, sheet 1

View BVdb publication page

Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.

Circulation. Cardiovascular Genetics

Helms, Adam S AS; Davis, Frank M FM; Coleman, David D; Bartolone, Sarah N SN; Glazier, Amelia A AA; Pagani, Francis F; Yob, Jaime M JM; Sadayappan, Sakthivel S; Pedersen, Ellen E; Lyons, Robert R; Westfall, Margaret V MV; Jones, Richard R; Russell, Mark W MW; Day, Sharlene M SM

Publication Date: 2014-08

Variant appearance in text: MYH7: Ile323Asn

PubMed Link: 25031304

Variant Present in the following documents:

• Main text

View BVdb publication page