Publications:

---

Myocardial ultrastructure can augment genetic testing for sporadic dilated cardiomyopathy with initial heart failure.

Esc Heart Failure

Saito, Tsunenori T; Sato, Naoko Saito NS; Mozawa, Kosuke K; Adachi, Akiko A; Sasaki, Yoshihiro Y; Nakamura, Kotoka K; Oka, Eiichiro E; Otsuka, Toshiaki T; Kodani, Eitaro E; Asai, Kuniya K; Mizuno, Kyoichi K; Shimizu, Wataru W; Gottlieb, Roberta A RA

Publication Date: 2021-09-06

Variant appearance in text: MYBPC3: 2882C>T

PubMed Link: 34486814

Variant Present in the following documents:

• Main text
• EHF2-8-5178.pdf

View BVdb publication page

---

Myocardial ultrastructure can augment genetic testing for sporadic dilated cardiomyopathy with initial heart failure.

Esc Heart Failure

Saito, Tsunenori T; Sato, Naoko Saito NS; Mozawa, Kosuke K; Adachi, Akiko A; Sasaki, Yoshihiro Y; Nakamura, Kotoka K; Oka, Eiichiro E; Otsuka, Toshiaki T; Kodani, Eitaro E; Asai, Kuniya K; Mizuno, Kyoichi K; Shimizu, Wataru W; Gottlieb, Roberta A RA

Publication Date: 2021-12

Variant appearance in text: MYBPC3: 2882C>T

PubMed Link: 34486814

Variant Present in the following documents:

• Main text
• EHF2-8-5178.pdf

View BVdb publication page

---

Yield of Rare Variants Detected by Targeted Next-Generation Sequencing in a Cohort of Romanian Index Patients with Hypertrophic Cardiomyopathy.

Diagnostics (Basel, Switzerland)

Micheu, Miruna Mihaela MM; Popa-Fotea, Nicoleta-Monica NM; Oprescu, Nicoleta N; Bogdan, Stefan S; Dan, Monica M; Deaconu, Alexandru A; Dorobantu, Lucian L; Gheorghe-Fronea, Oana O; Greavu, Maria M; Iorgulescu, Corneliu C; Scafa-Udriste, Alexandru A; Ticulescu, Razvan R; Vatasescu, Radu Gabriel RG; Dorobanțu, Maria M

Publication Date: 2020-12-07

Variant appearance in text: MYBPC3: 2882C>T; Pro961Leu; rs373056282

PubMed Link: 33297573

Variant Present in the following documents:

• Main text
• diagnostics-10-01061.pdf

View BVdb publication page

---

The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort.

Npj Genomic Medicine

Aguib, Yasmine Y; Allouba, Mona M; Afify, Alaa A; Halawa, Sarah S; El-Khatib, Mohamed M; Sous, Marina M; Galal, Aya A; Abdelrahman, Eslam E; Shehata, Nairouz N; El Sawy, Amr A; Elmaghawry, Mohamed M; Anwer, Shehab S; Kamel, Omnia O; El Mozy, Wesam W; Khedr, Hadir H; Kharabish, Ahmed A; Thabet, Nagwa N; Theotokis, Pantazis I PI; Buchan, Rachel R; Govind, Risha R; Whiffin, Nicola N; Walsh, Roddy R; Aguib, Heba H; Elguindy, Ahmed A; O'Regan, Declan P DP; Cook, Stuart A SA; Barton, Paul J PJ; Ware, James S JS; Yacoub, Magdi M

Publication Date: 2020

Variant appearance in text: MYBPC3: 2882C>T; Pro961Leu

PubMed Link: 33110626

Variant Present in the following documents:

• 41525_2020_153_MOESM1_ESM.pdf

View BVdb publication page

---

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Circulation. Genomic And Precision Medicine

Ingles, Jodie J; Goldstein, Jennifer J; Thaxton, Courtney C; Caleshu, Colleen C; Corty, Edward W EW; Crowley, Stephanie B SB; Dougherty, Kristen K; Harrison, Steven M SM; McGlaughon, Jennifer J; Milko, Laura V LV; Morales, Ana A; Seifert, Bryce A BA; Strande, Natasha N; Thomson, Kate K; Peter van Tintelen, J J; Wallace, Kathleen K; Walsh, Roddy R; Wells, Quinn Q; Whiffin, Nicola N; Witkowski, Leora L; Semsarian, Christopher C; Ware, James S JS; Hershberger, Ray E RE; Funke, Birgit B

Publication Date: 2019-02

Variant appearance in text: MYBPC3: P961L

PubMed Link: 30681346

Variant Present in the following documents:

• hcg-12-e002460-s002.xlsx, sheet 8

View BVdb publication page

---

Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: MYBPC3: 2882C>T; Pro961Leu

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

---