| Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta Y Alanay, H Avaygan, N Camacho, GE Utine, K Boduroglu, D Aktas, ... The American Journal of Human Genetics 86 (4), 551-559, 2010 | 362 | 2010 |
| Genes that affect brain structure and function identified by rare variant analyses of Mendelian neurologic disease E Karaca, T Harel, D Pehlivan, SN Jhangiani, T Gambin, ZC Akdemir, ... Neuron 88 (3), 499-513, 2015 | 293 | 2015 |
| Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia E Uz, Y Alanay, D Aktas, I Vargel, S Gucer, G Tuncbilek, F von Eggeling, ... The American Journal of Human Genetics 86 (5), 789-796, 2010 | 161 | 2010 |
| Neural tube defects in Turkey: prevalence, distribution and risk factors. E Tuncbilek, K Boduroğlu, M Alikaşifoğlu The Turkish journal of pediatrics 41 (3), 299-305, 1999 | 142 | 1999 |
| ALX4 dysfunction disrupts craniofacial and epidermal development H Kayserili, E Uz, C Niessen, I Vargel, Y Alanay, G Tuncbilek, G Yigit, ... Human molecular genetics 18 (22), 4357-4366, 2009 | 140 | 2009 |
| Tumour necrosis factor α G→ A− 238 and G→ A− 308 polymorphisms in juvenile idiopathic arthritis S Ozen, M Alikasifoglu, A Bakkaloglu, A Duzova, K Jarosova, D Nemcova, ... Rheumatology 41 (2), 223-227, 2002 | 121 | 2002 |
| A case series of adenosine deaminase 2-deficient patients emphasizing treatment and genotype-phenotype correlations ED Batu, O Karadag, EZ Taskiran, U Kalyoncu, I Aksentijevich, ... The Journal of rheumatology 42 (8), 1532-1534, 2015 | 107 | 2015 |
| Implications of certain genetic polymorphisms in scarring in vesicoureteric reflux: importance of ACE polymorphism S Ozen, M Alikasifoglu, U Saatci, A Bakkaloglu, N Besbas, N Kara, ... American journal of kidney diseases 34 (1), 140-145, 1999 | 107 | 1999 |
| Methylene tetrahydrofolate reductase genotype and the risk and extent of coronary artery disease in a population with low plasma folate SL Tokgözoğlu, M Alikaşifoğlu, E Atalar, K Aytemir, N Özer, K Övünç, ... Heart 81 (5), 518-522, 1999 | 103 | 1999 |
| CYP1A1 gene polymorphism and risk of epithelial ovarian neoplasm D Aktas, I Guney, M Alikasifoglu, K Yüce, E Tuncbilek, A Ayhan Gynecologic oncology 86 (2), 124-128, 2002 | 80 | 2002 |
| A Homozygous Deletion in GRID2 Causes a Human Phenotype With Cerebellar Ataxia and Atrophy GE Utine, G Haliloğlu, B Salancı, A Çetinkaya, PÖ Kiper, Y Alanay, ... Journal of child neurology 28 (7), 926-932, 2013 | 77 | 2013 |
| Paralog studies augment gene discovery: DDX and DHX genes I Paine, JE Posey, CM Grochowski, SN Jhangiani, S Rosenheck, ... The American Journal of Human Genetics 105 (2), 302-316, 2019 | 62 | 2019 |
| Genotype and phenotype evaluation of patients with primary ciliary dyskinesia: first results from Turkey N Emiralioğlu, EZ Taşkıran, C Koşukcu, E Bilgiç, P Atilla, B Kaya, ... Pediatric pulmonology 55 (2), 383-393, 2020 | 61 | 2020 |
| Variable pathogenicity of exon 43del (FAA) in four Fanconi anaemia patients within a consanguineous family A Koc, JC Pronk, M Alikasifoglu, H Joenje, Ç Altay British journal of haematology 104 (1), 127-130, 1999 | 58 | 1999 |
| Results of the Turkish congenital malformation survey. E Tunçbilek, K Boduroğlu, M Alikaşifoğlu The Turkish Journal of Pediatrics 41 (3), 287-297, 1999 | 57 | 1999 |
| A multidisciplinary approach to the management of individuals with fragile X syndrome Y Alanay, F Ünal, G Turanlı, M Alikaşifoğlu, D Alehan, U Akyol, E Belgin, ... Journal of Intellectual Disability Research 51 (2), 151-161, 2007 | 53 | 2007 |
| Higher frequency of allele 2 of the interleukin‐1 receptor antagonist gene in patients with juvenile idiopathic arthritis J Vencovský, K Jarošová, šárka Růžičková, D Němcová, J Niederlová, ... Arthritis & Rheumatism 44 (10), 2387-2391, 2001 | 53 | 2001 |
| Association of the 677C→ T mutation on the methylenetetrahydrofolate reductase gene in Turkish patients with neural tube defects K Boduroglu, M Alikaşifoğlu, B Anar, E Tunçbilek Journal of child neurology 14 (3), 159-161, 1999 | 53 | 1999 |
| Serum PON-1 activity but not Q192R polymorphism is related to the extent of atherosclerosis A Bayrak, T Bayrak, SL Tokgözoglu, B Volkan-Salanci, A Deniz, B Yavuz, ... Journal of atherosclerosis and thrombosis 19 (4), 376-384, 2012 | 50 | 2012 |
| Whole exome sequencing in early-onset systemic lupus erythematosus ED Batu, C Koşukcu, E Taşkıran, S Sahin, S Akman, B Sözeri, E Ünsal, ... The Journal of Rheumatology 45 (12), 1671-1679, 2018 | 48 | 2018 |
