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 | 215 | 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 | 86 | 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 | 75 | 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 | 62 | 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 | 50 | 2018 |
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 | 42 | 2015 |
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 | 38 | 2019 |
Megalencephalic leukoencephalopathy with subcortical cysts: Characterization of disease variants EMC Hamilton, P Tekturk, F Cialdella, DF van Rappard, NI Wolf, ... Neurology 90 (16), e1395-e1403, 2018 | 37 | 2018 |
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 | 31 | 2018 |
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 (12), 1399-1409, 2016 | 28 | 2016 |
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 | 27 | 2007 |
Cernunnos/XLF deficiency: a syndromic primary immunodeficiency FE Çipe, C Aydogmus, A Babayigit Hocaoglu, M Kilic, GD Kaya, ... Case Reports in Pediatrics 2014, 2014 | 20 | 2014 |
Ectopic calcification and hypophosphatemic rickets: natural history of ENPP1 and ABCC6 deficiencies CR Ferreira, K Kintzinger, ME Hackbarth, U Botschen, Y Nitschke, ... Journal of Bone and Mineral Research 36 (11), 2193-2202, 2021 | 17 | 2021 |
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 | 14 | 2016 |
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 | 13 | 2019 |
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 | 11 | 2021 |
Baylor-Hopkins Center for Mendelian Genomics D Pehlivan, Y Bayram, N Gunes, Z Coban Akdemir, A Shukla, T Bierhals, ... The genomics of arthrogryposis, a complex trait: candidate genes and further …, 2019 | 11 | 2019 |
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 | 8 | 2021 |
Novel mutations in PTPN11 gene in two girls with Noonan syndrome phenotype EY Gulec, Z Ocak, S Candan, E Ataman, C Yarar International journal of cardiology 186, 13-15, 2015 | 8 | 2015 |
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 | 7 | 2021 |