Makia J Marafi (Makia J Marafie)

Publication Activity (10 Years)

Years Active: 2018-2019
Publications (10 Years): 3

Top Topics

Dna Methylation

Intellectual Disability

Breast Cancer Risk

Top Venues

European journal of human genetics : EJHG

Familial cancer

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

Publications

Yael Laitman, Tara M Friebel, Drakoulis Yannoukakos, Florentia Fostira, Irene Konstantopoulou, Gisella Figlioli, Bernardo Bonanni, Siranoush Manoukian, Monica Zuradelli, Carlo Alberto Tondini, Barbara Pasini, Paolo Peterlongo, Dijana Plaseska-Karanfilska, Milena Jakimovska Özdemir, Keivan Majidzadeh-A, Shiva Zarinfam, Maria A Loizidou, Andreas Hadjisavvas, Kyriaki Michailidou, Kyriacos Kyriacou, Doron M Behar, Rinat Bernstein Molho, Patricia A Ganz, Paul A James, Michael T Parsons, Aminah Sallam, Olufunmilayo I Olopade, Arun Seth, Georgia Chenevix-Trench, Goska Leslie, Lesley McGuffog, Makia J Marafi, Andre Megarbane, Fahd Al-Mulla, Timothy R Rebbeck, Eitan Friedman
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries. Human mutation 40 (11) (2019)
Aida M Bertoli-Avella, Jose M Garcia-Aznar, Oliver Brandau, Fahad Al-Hakami, Zafer Yüksel, Anett Marais, Nana-Maria Grüning, Lia Abbasi Moheb, Omid Paknia, Nahla Alshaikh, Seham Alameer, Makia J Marafi, Fahd Al-Mulla, Nouriya Al-Sannaa, Arndt Rolfs, Peter Bauer
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability. European journal of human genetics : EJHG 26 (4) (2018)
Makia J Marafi, Mohammed Dashti, Fahd Al-Mulla
Identification of a rare germline NBN gene mutation by whole exome sequencing in a lung-cancer survivor from a large family with various types of cancer. Familial cancer 16 (3) (2018)