M. Marafie

发表

Planning the Human Variome Project: The Spain report

Toshio Kojima, John M. Hancock, Sue Povey, 2009, Human mutation.

Capturing all disease-causing mutations for clinical and research use: Toward an effortless system for the Human Variome Project

Mauno Vihinen, George P Patrinos, Rodney J Scott, 2009, Genetics in Medicine.

The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries

K. Kyriacou, B. Bonanni, O. Olopade, 2019, Human mutation.

Next-generation sequencing in familial breast cancer patients from Lebanon

E. Chouery, A. Mégarbané, F. Al-Mulla, 2017, BMC Medical Genomics.

Identification and management of Lynch syndrome in the Middle East and North African countries: outcome of a survey in 12 countries

M. Loizidou, A. Hadjisavvas, K. Majidzadeh-A, 2020, Familial Cancer.

Senior-Loken syndrome: A novel NPHP5 gene mutation in a family from Kuwait

F. Al-Mulla, M. Marafie, 2014 .

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

F. Al-Mulla, M. Marafie, Mohammed Dashti, 2017, Familial Cancer.

Wolcott-Rallison syndrome in a Bedouin boy

M. Marafie, M. Redha, R. L. al-Naggar, 2004, Annals of Saudi medicine.

Primary ciliary dyskinesia: Kartagener syndrome in a family with a novel DNAH5 gene mutation and variable phenotypes

M. Marafie, I. Suliman, A. Redha, 2015 .

Brachmann-de Lange syndrome in sibs.

M. Marafie, S. Al‐Awadi, A. Teebi, 1987, Journal of medical genetics.

Marked overlap of four genetic syndromes with dyskeratosis congenita confounds clinical diagnosis

K. Godfrey, V. Plagnol, T. Vulliamy, 2016, Haematologica.

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Rodney J Scott, John-Paul Plazzer, Finlay Macrae, 2013, Nature Genetics.

Functionally-focused algorithmic analysis of high resolution microarray-CGH genomic landscapes demonstrates comparable genomic copy number aberrations in MSI and MSS sporadic colorectal cancer

F. Al-Mulla, M. Marafie, M. Bitar, 2017, PloS one.

Autosomal recessive congenital diaphragmatic defects in the Arabs.

M. Marafie, S. Al‐Awadi, T. Farag, 1994, American journal of medical genetics.

The newly recognised limb/pelvis-hypoplasia/aplasia syndrome: report of a Bedouin patient and review.

M. Marafie, S. Al‐Awadi, T. Farag, 1993, Journal of medical genetics.

Identification of 42 Genes Linked to Stage II Colorectal Cancer Metastatic Relapse

T. Tan, J. Thiery, P. Quirke, 2016, International journal of molecular sciences.

Greig cephalopolysyndactyly syndrome with dysgenesis of the corpus callosum in a Bedouin family.

M. Marafie, S. Al‐Awadi, S. Temtamy, 1996, American journal of medical genetics.

Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association.

M. Marafie, S. Al‐Awadi, A. Teebi, 1988, Journal of medical genetics.

Raf Kinase Inhibitory Protein Role in the Molecular Subtyping of Breast Cancer

F. Al-Mulla, M. Marafie, Tuan Zea Tan, 2014, Journal of cellular biochemistry.

Clustering of cri du chat syndrome among the Bedouins.

M. Marafie, S. Al‐Awadi, A. A. Reda, 1993, American journal of medical genetics.

Baraitser-Winter syndrome: An additional Arab patient

M. Marafie, Maha M. Abou Henedy, Sawsan J. Abulhasan, 2010 .

Recommendations for Genetic Variation Data Capture in Developing Countries to Ensure a Comprehensive Worldwide Data Collection

George P Patrinos, Finlay Macrae, G. Patrinos, 2010, Human mutation.

Gender-Associated Genomic Differences in Colorectal Cancer: Clinical Insight from Feminization of Male Cancer Cells

F. Al-Mulla, M. Marafie, M. Bitar, 2014, International journal of molecular sciences.

Uncle-niece/aunt-nephew marriages are not existing in Muslim Arabs.

M. Marafie, A. Teebi, 1988, American journal of medical genetics.

The influence of admixture and consanguinity on population genetic diversity in Middle East

Xiong Yang, Qidi Feng, Shuhua Xu, 2014, Journal of Human Genetics.

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

F. Al-Mulla, M. Marafie, Mohammed Dashti, 2016, Familial Cancer.

Impact of 226C>T MSH2 gene mutation on cancer phenotypes in two HNPCC-associated highly-consanguineous families from Kuwait: emphasis on premarital genetic testing

F. Al-Mulla, M. Marafie, W. Al-Ali, 2009, Familial Cancer.

Next-generation sequencing in familial breast cancer patients from Lebanon

E. Chouery, A. Mégarbané, F. Al-Mulla, 2017, BMC Medical Genomics.

Autosomal Recessive Duchenne-Like Muscular Dystrophy in Arabs

M. Marafie, S. Al‐Awadi, M. Şimşek, 1989 .

Disease profile of 400 institutionalized mentally retarded patients in Kuwait

M. Marafie, S. Al‐Awadi, T. Farag, 1993, Clinical genetics.

A germline RET proto-oncogene mutation in multiple members of an Arab family with variable onset of MEN type 2A-associated clinical manifestations

M. Marafie, Mohammed Dashti, I. Suliman, 2017 .

Human variome project country nodes: Documenting genetic information within a country

L. Jorde, T. de Ravel, W. Grody, 2012, Human mutation.

Familial adenomatous polyposis: two different APC gene mutations in two unrelated Arab families with differing response to genetic counselling

M. Marafie, Farah L. Al-Elwani, Ibrahim S. Al Suliman, 2014 .

Intestinal malformations and Down's syndrome in Arabs

M. Marafie, S. Al‐Awadi, A. Teebi, 1987, Journal of the Royal Society of Medicine.