The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries
Laitman, Yael, Friebel, Tara M., Yannoukakos, Drakoulis, Fostira, Florentia, Konstantopoulou, Irene, Figlioli, Gisella, Bonanni, Bernardo, Manoukian, Siranoush, Zuradelli, Monica, Tondini, Carlo, Pasini, Barbara, Peterlongo, Paolo, Plaseska‐Karanfilska, Dijana, Jakimovska, Milena, Majidzadeh, Keivan, Zarinfam, Shiva, Loizidou, Maria A., Hadjisavvas, Andreas, Michailidou, Kyriaki, Kyriacou, Kyriacos, Behar, Doron M., Molho, Rinat Bernstein, Ganz, Patricia, James, Paul, Parsons, Michael T., Sallam, Aminah, Olopade, Olufunmilayo I., Seth, Arun, Chenevix ‐ Trench, Georgia, Leslie, Goska, McGuffog, Lesley, Marafie, Makia J, Megarbane, Andre, Al‐Mulla, Fahd, Rebbeck, Timothy R., Friedman, Eitan
Published in Human mutation (01.11.2019)
Published in Human mutation (01.11.2019)
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Journal Article
Gender-associated genomic differences in colorectal cancer: clinical insight from feminization of male cancer cells
Ali, Rola H, Marafie, Makia J, Bitar, Milad S, Al-Dousari, Fahad, Ismael, Samar, Bin Haider, Hussain, Al-Ali, Waleed, Jacob, Sindhu P, Al-Mulla, Fahd
Published in International journal of molecular sciences (29.09.2014)
Published in International journal of molecular sciences (29.09.2014)
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Journal Article
Next-generation sequencing in familial breast cancer patients from Lebanon
Jalkh, Nadine, Chouery, Eliane, Haidar, Zahraa, Khater, Christina, Atallah, David, Ali, Hamad, Marafie, Makia J, Al-Mulla, Mohamed R, Al-Mulla, Fahd, Megarbane, Andre
Published in BMC medical genomics (15.02.2017)
Published in BMC medical genomics (15.02.2017)
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Journal Article
Identification and management of Lynch syndrome in the Middle East and North African countries: outcome of a survey in 12 countries
Sina, Mohammad, Ghorbanoghli, Zeinab, Abedrabbo, Amal, Al-Mulla, Fahd, Sghaier, Rihab Ben, Buisine, Marie-Pierre, Cortas, George, Goshayeshi, Ladan, Hadjisavvas, Andreas, Hammoudeh, Wail, Hamoudi, Waseem, Jabari, Carol, Loizidou, Maria A., Majidzadeh-A, Keivan, Marafie, Makia J., Muslumov, Gurbankhan, Rifai, Laila, Seir, Rania Abu, Talaat, Suzan M., Tunca, Berrin, Ziada-Bouchaar, Hadia, Velthuizen, Mary E., Sharara, Ala I., Ahadova, Aysel, Georgiou, Demetra, Vasen, Hans F. A.
Published in Familial cancer (01.07.2021)
Published in Familial cancer (01.07.2021)
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Journal Article
Functionally-focused algorithmic analysis of high resolution microarray-CGH genomic landscapes demonstrates comparable genomic copy number aberrations in MSI and MSS sporadic colorectal cancer
Ali, Hamad, Bitar, Milad S, Al Madhoun, Ashraf, Marafie, Makia, Al-Mulla, Fahd
Published in PloS one (23.02.2017)
Published in PloS one (23.02.2017)
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Journal Article
Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis
Walne, Amanda J, Collopy, Laura, Cardoso, Shirleny, Ellison, Alicia, Plagnol, Vincent, Albayrak, Canan, Albayrak, Davut, Kilic, Sara Sebnem, Patıroglu, Turkan, Akar, Haluk, Godfrey, Keith, Carter, Tina, Marafie, Makia, Vora, Ajay, Sundin, Mikael, Vulliamy, Thomas, Tummala, Hemanth, Dokal, Inderjeet
Published in Haematologica (Roma) (01.10.2016)
Published in Haematologica (Roma) (01.10.2016)
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Journal Article
The influence of admixture and consanguinity on population genetic diversity in Middle East
Yang, Xiong, Al-Bustan, Suzanne, Feng, Qidi, Guo, Wei, Ma, Zhiming, Marafie, Makia, Jacob, Sindhu, Al-Mulla, Fahd, Xu, Shuhua
Published in Journal of human genetics (01.11.2014)
Published in Journal of human genetics (01.11.2014)
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Journal Article
A germline RET proto-oncogene mutation in multiple members of an Arab family with variable onset of MEN type 2A-associated clinical manifestations
Marafie, Makia, Suliman, Ibrahim, Dashti, Mohammed, Redha, Abdulla, Alshati, Abdulrahman
Published in The Egyptian journal of medical human genetics (01.04.2017)
Published in The Egyptian journal of medical human genetics (01.04.2017)
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Journal Article
Recommendations for genetic variation data capture in developing countries to ensure a comprehensive worldwide data collection
Patrinos, George P., Al Aama, Jumana, Al Aqeel, Aida, Al-Mulla, Fahd, Borg, Joseph, Devereux, Andrew, Felice, Alex E., Macrae, Finlay, Marafie, Makia J., Petersen, Michael B., Qi, Ming, Ramesar, Rajkumar S., Zlotogora, Joel, Cotton, Richard G.H.
Published in Human mutation (01.01.2011)
Published in Human mutation (01.01.2011)
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Journal Article
Senior-Loken syndrome: A novel NPHP5 gene mutation in a family from Kuwait
Marafie, Makia J, Al-Mulla, Fahd
Published in The Egyptian journal of medical human genetics (01.04.2014)
Published in The Egyptian journal of medical human genetics (01.04.2014)
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Journal Article
Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project
Cotton, Richard G H, Al Aqeel, Aida I, Al-Mulla, Fahd, Carrera, Paola, Claustres, Mireille, Ekong, Rosemary, Hyland, Valentine J, Macrae, Finlay A, Marafie, Makia J, Paalman, Mark H, Patrinos, George P, Qi, Ming, Ramesar, Rajkumar S, Scott, Rodney J, Sijmons, Rolf H, Sobrido, María-Jesús, Vihinen, Mauno
Published in Genetics in medicine (01.12.2009)
Published in Genetics in medicine (01.12.2009)
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Journal Article
Primary ciliary dyskinesia: Kartagener syndrome in a family with a novel DNAH5 gene mutation and variable phenotypes
Marafie, Makia J., Al Suliman, Ibrahim S., Redha, Abdullah M., Alshati, Abdulrahman M.
Published in The Egyptian journal of medical human genetics (01.01.2015)
Published in The Egyptian journal of medical human genetics (01.01.2015)
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Journal Article
Impact of 226C>T MSH2 gene mutation on cancer phenotypes in two HNPCC-associated highly-consanguineous families from Kuwait: emphasis on premarital genetic testing
Marafie, Makia J., Al-Awadi, Sadiqa, Al-Mosawi, Fatemah, Elshafey, Alaa, Al-Ali, Waleed, Al-Mulla, Fahd
Published in Familial cancer (01.12.2009)
Published in Familial cancer (01.12.2009)
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Journal Article
Familial adenomatous polyposis: two different APC gene mutations in two unrelated Arab families with differing response to genetic counselling
Marafie, Makia J., Al-Elwani, Farah L., Al Suliman, Ibrahim S.
Published in Middle East Journal of Medical Genetics (01.01.2014)
Published in Middle East Journal of Medical Genetics (01.01.2014)
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Journal Article
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database
Thompson, Bryony A, Spurdle, Amanda B, Plazzer, John-Paul, Greenblatt, Marc S, Akagi, Kiwamu, Al-Mulla, Fahd, Bapat, Bharati, Bernstein, Inge, Capellá, Gabriel, den Dunnen, Johan T, du Sart, Desiree, Fabre, Aurelie, Farrell, Michael P, Farrington, Susan M, Frayling, Ian M, Frebourg, Thierry, Goldgar, David E, Heinen, Christopher D, Holinski-Feder, Elke, Kohonen-Corish, Maija, Robinson, Kristina Lagerstedt, Leung, Suet Yi, Martins, Alexandra, Moller, Pal, Morak, Monika, Nystrom, Minna, Peltomaki, Paivi, Pineda, Marta, Qi, Ming, Ramesar, Rajkumar, Rasmussen, Lene Juel, Royer-Pokora, Brigitte, Scott, Rodney J, Sijmons, Rolf, Tavtigian, Sean V, Tops, Carli M, Weber, Thomas, Wijnen, Juul, Woods, Michael O, Macrae, Finlay, Genuardi, Maurizio
Published in Nature genetics (01.02.2014)
Published in Nature genetics (01.02.2014)
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Journal Article
Wolcott-Rallison syndrome in a Bedouin boy
Marafie, Makia J, Redha, Mary A, Al-Naggar, Rezk L
Published in Annals of Saudi medicine (01.11.2004)
Published in Annals of Saudi medicine (01.11.2004)
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Journal Article
eP001: Newborn screening experience for very long chain Acyl-CoA Dehydrogenase (VLCAD) deficiency in Kuwait
Alabdulrazzaq, Fatima, AlSharhan, Hind, Ahmed, Amir, Marafie, Makia, Sulaiman, Ibrahim, Alshafie, Reem, AlAhmad, Ahmad, AlBash, Buthaina, Ali, Naser, Cyril, Parakkal, Alkazzaz, Usama, Ibrahim, Samia, Elfeky, Yasser, Salloum, Ayman, Alshammari, Asma, Abdelrahman, Rehab, Alsafi, Rasha, Ramadan, Dina, Al-Rushood, May, Bastaki, Laila
Published in Genetics in medicine (01.03.2022)
Published in Genetics in medicine (01.03.2022)
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Journal Article