Ewa Goljan

Ewa Goljan

King Faisal Specialist Hospital and Research Centre - Riyadh / Saudi Arabia
Medical and Health Sciences / Pharmacy & Pharmaceutical Sciences
AD Scientific Index ID: 4618285
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person_outline Ewa Goljan's MOST POPULAR ARTICLES
1-) Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous familiesAM Alazami, N Patel, HE Shamseldin, S Anazi, MS Al-Dosari, F Alzahrani, ...Cell reports 10 (2), 148-161, 20153772015
2-) The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomesD Monies, M Abouelhoda, M AlSayed, Z Alhassnan, M Alotaibi, H Kayyali, ...Human genetics 136 (8), 921-939, 20172102017
3-) Lessons learned from large-scale, first-tier clinical exome sequencing in a highly consanguineous populationD Monies, M Abouelhoda, M Assoum, N Moghrabi, R Rafiullah, ...The American Journal of Human Genetics 104 (6), 1182-1201, 20191612019
4-) Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic ArthritisSM Wakil, DM Monies, M Abouelhoda, N Al‐Tassan, H Al‐Dusery, ...Arthritis & rheumatology 67 (1), 288-295, 20151362015
5-) Expanding the clinical, allelic, and locus heterogeneity of retinal dystrophiesN Patel, MA Aldahmesh, H Alkuraya, S Anazi, H Alsharif, AO Khan, ...Genetics in Medicine 18 (6), 554-562, 20161122016