Publications:

Defining the diagnostic effectiveness of genes for inclusion in panels: the experience of two decades of genetic testing for hypertrophic cardiomyopathy at a single center.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Mazzarotto, Francesco F; Girolami, Francesca F; Boschi, Beatrice B; Barlocco, Fausto F; Tomberli, Alessia A; Baldini, Katia K; Coppini, Raffaele R; Tanini, Ilaria I; Bardi, Sara S; Contini, Elisa E; Cecchi, Franco F; Pelo, Elisabetta E; Cook, Stuart A SA; Cerbai, Elisabetta E; Poggesi, Corrado C; Torricelli, Francesca F; Walsh, Roddy R; Olivotto, Iacopo I

Publication Date: 2019-02

Variant appearance in text: MYH7: 2795T>A; M932K

PubMed Link: 29875424

Variant Present in the following documents:

• 41436_2018_46_MOESM1_ESM.xlsx, sheet 3

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A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation.

Plos One

Sana, Maria Elena ME; Quilliam, Lawrence A LA; Spitaleri, Andrea A; Pezzoli, Laura L; Marchetti, Daniela D; Lodrini, Chiara C; Candiago, Elisabetta E; Lincesso, Anna Rita AR; Ferrazzi, Paolo P; Iascone, Maria M

Publication Date: 2016

Variant appearance in text: MYH7: 2795T>A; Met932Lys

PubMed Link: 28002430

Variant Present in the following documents:

• Main text
• pone.0168501.pdf

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Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

Journal Of Cardiovascular Translational Research

Kassem, Heba Sh HSh; Azer, Remon S RS; Saber-Ayad, Maha M; Ayad, Maha S MS; Moharem-Elgamal, Sarah S; Magdy, Gehan G; Elguindy, Ahmed A; Cecchi, Franco F; Olivotto, Iacopo I; Yacoub, Magdi H MH

Publication Date: 2013-02

Variant appearance in text: MYH7: Met932Lys

PubMed Link: 23233322

Variant Present in the following documents:

• Main text
• 12265_2012_Article_9425.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: MYH7: M932K

PubMed Link: 21302287

Variant Present in the following documents:

• jcp0226-2894.pdf

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