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Elif Yilmaz Gulec
Elif Yilmaz Gulec
İstanbul Medeniyet Üniversitesi, Tıbbi Genetik Anabilim Dalı
Verified email at medeniyet.edu.tr
Title
Cited by
Cited by
Year
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
2152015
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
862018
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
752018
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
622019
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
502018
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
422015
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
382019
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
372018
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
312018
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
282016
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
272007
Cernunnos/XLF deficiency: a syndromic primary immunodeficiency
FE Çipe, C Aydogmus, A Babayigit Hocaoglu, M Kilic, GD Kaya, ...
Case Reports in Pediatrics 2014, 2014
202014
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
172021
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
142016
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
132019
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
112021
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
112019
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
82021
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
82015
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
72021
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