Marina T DiStefano

Publication Activity (10 Years)

Years Active: 2019-2019
Publications (10 Years): 2

Top Topics

Smoking Cessation

Tyrosine Kinase

Top Venues

Genetics in medicine : official journal of the American College of Medical Genetics

This page only lists publications with an associated author ORCID identifier.

Publications

Michael A Iacocca, Joana Rita Chora, Alain Carrié, Tomáš Freiberger, Sarah E Leigh, Joep C Defesche, C Lisa Kurtz, Marina T DiStefano, Raul Dias Dos Santos Filho, Steve E Humphries, Pedro Mata, Cinthia E Jannes, Amanda J Hooper, Katherine A Wilemon, Pascale Benlian, Robert O'Connor, John Garcia, Hannah Wand, Lukáš Tichy, Eric J G Sijbrands, Robert A Hegele, Mafalda Bourbon, Joshua W Knowles, null null
ClinVar database of global familial hypercholesterolemia-associated DNA variants. Human mutation 39 (11) (2019)
Jun Shen, Andrea M Oza, Ignacio Del Castillo, Hatice Duzkale, Tatsuo Matsunaga, Arti Pandya, Hyunseok P Kang, Rebecca Mar-Heyming, Saurav Guha, Krista Moyer, Christine Lo, Margaret Kenna, John J Alexander, Yan Zhang, Yoel Hirsch, Minjie Luo, Ye Cao, Kwong-Wai Choy, Yen-Fu Cheng, Karen B Avraham, Xinhua Hu, Gema Garrido, Miguel Angel Moreno-Pelayo, John Greinwald, Kejian Zhang, Yukun Zeng, Zippora Brownstein, Lina Basel-Salmon, Bella Davidov, Moshe Frydman, Tzvi Weiden, Narasimhan Nagan, Alecia Willis, Sarah E Hemphill, Andrew R Grant, Rebecca K Siegert, Marina T DiStefano, Sami S Amr, Michael J Bamshad, Ahmad N Abou Tayoun, null null
Consensus interpretation of the p.Met34Thr and p.Val37Ile variants in GJB2 by the ClinGen Hearing Loss Expert Panel. Genetics in medicine : official journal of the American College of Medical Genetics 21 (11) (2019)