Publications:

Whole-exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases.

Molecular Genetics & Genomic Medicine

Lenarduzzi, Stefania S; Spedicati, Beatrice B; Alessandrini, Beatrice B; Tesolin, Paola P; Paldino, Alessia A; Gigli, Marta M; Sinagra, Gianfranco G; Gasparini, Paolo P; Ferro, Matteo Dal MD; Girotto, Giorgia G

Publication Date: 2023-02-14

Variant appearance in text: MYBPC3: 3034C>T; Gln1012*

PubMed Link: 36788754

Variant Present in the following documents:

• Main text
• MGG3-11-e2143.pdf

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Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: MYBPC3: Q1012X

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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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: MYBPC3: 3034C>T; Gln1012*

PubMed Link: 30297972

Variant Present in the following documents:

• cir-138-1387-s001.pdf

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A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.

International Journal Of Molecular Sciences

Rubattu, Speranza S; Bozzao, Cristina C; Pennacchini, Ermelinda E; Pagannone, Erika E; Musumeci, Beatrice Maria BM; Piane, Maria M; Germani, Aldo A; Savio, Camilla C; Francia, Pietro P; Volpe, Massimo M; Autore, Camillo C; Chessa, Luciana L

Publication Date: 2016-07-30

Variant appearance in text: MYBPC3: 3034C>T; Gln1012Ter; rs730880586

PubMed Link: 27483260

Variant Present in the following documents:

• Main text
• ijms-17-01239.pdf

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Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.

Journal Of Cellular Physiology

Roncarati, Roberta R; Latronico, Michael V G MV; Musumeci, Beatrice B; Aurino, Stefania S; Torella, Annalaura A; Bang, Marie-Louise ML; Jotti, Gloria Saccani GS; Puca, Annibale A AA; Volpe, Massimo M; Nigro, Vincenzo V; Autore, Camillo C; Condorelli, Gianluigi G

Publication Date: 2011-11

Variant appearance in text: MYBPC3: Q1012X

PubMed Link: 21302287

Variant Present in the following documents:

• jcp0226-2894.pdf

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