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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
2942015
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
1132018
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
1112018
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
852019
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
732018
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
592019
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
542015
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
482018
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
462021
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
352021
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
352016
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
332021
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
282007
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
262021
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
252019
Cernunnos/XLF deficiency: a syndromic primary immunodeficiency
FE Çipe, C Aydogmus, A Babayigit Hocaoglu, M Kilic, GD Kaya, ...
Case Reports in Pediatrics 2014, 2014
252014
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
192016
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
172022
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
162017
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
152022
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