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 | 294 | 2015 |
WNT signaling perturbations underlie the genetic heterogeneity of Robinow syndrome JJ White, JF Mazzeu, Z Coban-Akdemir, Y Bayram, V Bahrambeigi, ... The American Journal of Human Genetics 102 (1), 27-43, 2018 | 113 | 2018 |
Recessive DNAH9 loss-of-function mutations cause laterality defects and subtle respiratory ciliary-beating defects NT Loges, D Antony, A Maver, MA Deardorff, EY Güleç, A Gezdirici, ... The American Journal of Human Genetics 103 (6), 995-1008, 2018 | 111 | 2018 |
The genomics of arthrogryposis, a complex trait: candidate genes and further evidence for oligogenic inheritance D Pehlivan, Y Bayram, N Gunes, ZC Akdemir, A Shukla, T Bierhals, ... The American Journal of Human Genetics 105 (1), 132-150, 2019 | 85 | 2019 |
Phenotypic expansion in DDX3X – a common cause of intellectual disability in females X Wang, JE Posey, JA Rosenfeld, CA Bacino, F Scaglia, LD Immken, ... Annals of clinical and translational neurology 5 (10), 1277-1285, 2018 | 73 | 2018 |
Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease A Jolly, Y Bayram, S Turan, Z Aycan, T Tos, ZY Abali, B Hacihamdioglu, ... The Journal of Clinical Endocrinology & Metabolism 104 (8), 3049-3067, 2019 | 59 | 2019 |
The phenotypic and molecular genetic spectrum of Alström syndrome in 44 Turkish kindreds and a literature review of Alström syndrome in Turkey A Ozantürk, JD Marshall, GB Collin, S Düzenli, RP Marshall, Ş Candan, ... Journal of human genetics 60 (1), 1-9, 2015 | 54 | 2015 |
Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility A Ta-Shma, R Hjeij, Z Perles, GW Dougherty, I Abu Zahira, SJF Letteboer, ... PLoS genetics 14 (8), e1007602, 2018 | 48 | 2018 |
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population T Mitani, S Isikay, A Gezdirici, EY Gulec, J Punetha, JM Fatih, I Herman, ... The American Journal of Human Genetics 108 (10), 1981-2005, 2021 | 46 | 2021 |
SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype M Motta, G Fasano, S Gredy, J Brinkmann, AA Bonnard, PO Simsek-Kiper, ... The American Journal of Human Genetics 108 (11), 2112-2129, 2021 | 35 | 2021 |
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease L Ma, Y Bayram, HM McLaughlin, MT Cho, A Krokosky, CE Turner, ... Human genetics 135, 1399-1409, 2016 | 35 | 2016 |
Effect of different storage conditions on COVID‐19 RT‐PCR results E Yilmaz Gulec, NP Cesur, G Yesilyurt Fazlioğlu, C Kazezoğlu Journal of Medical Virology 93 (12), 6575-6581, 2021 | 33 | 2021 |
Detection of Y chromosomal material in patients with a 45, X karyotype by PCR method CN Semerci, NL Satiroglu-Tufan, S Turan, A Bereket, B Tuysuz, E Yilmaz, ... The Tohoku Journal of Experimental Medicine 211 (3), 243-249, 2007 | 28 | 2007 |
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome L Pottie, CS Adamo, A Beyens, S Lütke, P Tapaneeyaphan, A De Clercq, ... The American Journal of Human Genetics 108 (6), 1095-1114, 2021 | 26 | 2021 |
ATP6V0A2‐related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype A Beyens, E Moreno‐Artero, C Bodemer, H Cox, A Gezdirici, ... Experimental dermatology 28 (10), 1142-1145, 2019 | 25 | 2019 |
Cernunnos/XLF deficiency: a syndromic primary immunodeficiency FE Çipe, C Aydogmus, A Babayigit Hocaoglu, M Kilic, GD Kaya, ... Case Reports in Pediatrics 2014, 2014 | 25 | 2014 |
Prenatal diagnosis of persistent hyperplastic primary vitreous: report of 2 cases and review of the literature AC Esmer, TS Sivrikoz, EY Gulec, S Sezer, I Kalelioglu, R Has, A Yuksel Journal of Ultrasound in Medicine 35 (10), 2285-2291, 2016 | 19 | 2016 |
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis CS Adamo, A Beyens, A Schiavinato, DR Keene, SF Tufa, M Mörgelin, ... The American Journal of Human Genetics 109 (12), 2230-2252, 2022 | 17 | 2022 |
How necessary is to analyze PTPN11 gene in fetuses with first trimester cystic hygroma and normal karyotype? A Gezdirici, A Ekiz, EY Güleç, B Kaya, S Sezer, A Atış Aydın The Journal of Maternal-Fetal & Neonatal Medicine 30 (8), 938-941, 2017 | 16 | 2017 |
The evaluation of potential global impact of the N501Y mutation in SARS‐COV‐2 positive patients SZM Komurcu, Y Artik, NP Cesur, A Tanriverdi, DC Erdogan, S Celik, ... Journal of Medical Virology 94 (3), 1009-1019, 2022 | 15 | 2022 |