Balıkesir Üniversitesi — ana sayfa AKADEMİK BİLGİ SİSTEMİ

Arş.Gör. ELİF YILMAZ

MÜHENDİSLİK FAKÜLTESİ, ENDÜSTRİ MÜHENDİSLİĞİ BÖLÜMÜ, ENDÜSTRİ MÜHENDİSLİĞİ ANABİLİM DALI

Balıkesir Üniversitesi

Araştırmacı Kimlikleri

Akademik Göstergeler

  • Web of Science: 51 yayın, 1207 atıf, h-indeks 15
  • Scopus: 1 yayın
  • YÖKSİS: 3 yayın, 3 atıf, h-indeks 1

Makaleler (51)

  1. Risk-based internal audit planning in banking: A multi-period assignment model
    YILMAZ ELİF,AYYILDIZ ERTUĞRUL · The EDP Audit, Control, and Security Newsletter (EDPACS) · 2026 · Uluslararası · Q3 · DOI: 10.1080/07366981.2026.2656368
  2. EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis
    Adamo, Christin S., Beyens, Aude, Schiavinato, Alvise, Keene, Douglas R., Tufa, Sara F. · AMERICAN JOURNAL OF HUMAN GENETICS · 2022 · Uluslararası · Q1 · DOI: 10.1016/j.ajhg.2022.10.010
  3. A New Variant of the IER3IP1 Gene: The First Case of Microcephaly, Epilepsy, and Diabetes Syndrome 1 from Turkey
    Sobu, Elif, Ozcora, Gul Demet Kaya, Gulec, Elif Yilmaz, Sahinoglu, Bahtiyar, Bucak, Feride Tahmiscioglu · JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY · 2024 · Uluslararası · Q2 · DOI: 10.4274/jcrpe.galenos.2022.2022-8-12
  4. Biallelic variants in the noncoding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes
    Rius, Rocio, Blakes, Alexander J. M., Chen, Yuyang, De Jonghe, Joachim, Lecoquierre, Francois · NATURE GENETICS · 2026 · Uluslararası · Q1 · DOI: 10.1038/s41588-026-02554-6
  5. An intermediate phenotype in IDH related enchondromatosis spectrum
    Yilmaz-Gulec, Elif, Marzin, Pauline, Huber-Lequesne, Celine, Cormier-Daire, Valerie · EUROPEAN JOURNAL OF MEDICAL GENETICS · 2023 · Uluslararası · Q2 · DOI: 10.1016/j.ejmg.2023.104697
  6. Homozygous loss-of-function mutations in MNS1 cause laterality defects and likely male infertility
    Ta-Shma, Asaf, Hjeij, Rim, Perles, Zeev, Dougherty, Gerard W., Abu Zahira, Ibrahim · PLOS GENETICS · 2018 · Uluslararası · Q1 · DOI: 10.1371/journal.pgen.1007602
  7. Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects
    Loges, Niki T., Antony, Dinu, Maver, Ales, Deardorff, Matthew A., Gulec, Elif Yylmaz · AMERICAN JOURNAL OF HUMAN GENETICS · 2018 · Uluslararası · Q1 · DOI: 10.1016/j.ajhg.2018.10.020
  8. Detection of Y chromosomal material in patients with a 45,X karyotype by PCR method
    Semerci, C. Nur, Satiroglu-Tufan, N. Lale, Turan, Serap, Bereket, Abdullah, Tuysuz, Beyhan · TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE · 2007 · Uluslararası · Q2 · DOI: 10.1620/tjem.211.243
  9. An integrated clinical and molecular study of a cohort of Turkish patients with Marfan syndrome harboring known and novel FBN1 variants
    Gezdirici, Alper, Terali, Kerem, Gulec, Elif Yilmaz, Bornaun, Helen, Dogan, Mustafa · JOURNAL OF HUMAN GENETICS · 2021 · Uluslararası · Q2 · DOI: 10.1038/s10038-021-00899-w
  10. Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
    Karaca, Ender, Harel, Tamar, Pehlivan, Davut, Jhangiani, Shalini N., Gambin, Tomasz · NEURON · 2015 · Uluslararası · Q1 · DOI: 10.1016/j.neuron.2015.09.048
  11. Exome Sequencing of a Primary Ovarian Insufficiency Cohort Reveals Common Molecular Etiologies for a Spectrum of Disease
    Jolly, Angad, Bayram, Yavuz, Turan, Serap, Aycan, Zehra, Tos, Tulay · JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM · 2019 · Uluslararası · Q1 · DOI: 10.1210/jc.2019-00248
  12. SPRED2 loss-of-function causes a recessive Noonan syndrome-like phenotype
    Motta, Marialetizia, Fasano, Giulia, Gredy, Sina, Brinkmann, Julia, Bonnard, Adeline Alice · AMERICAN JOURNAL OF HUMAN GENETICS · 2021 · Uluslararası · Q1 · DOI: 10.1016/j.ajhg.2021.09.007
  13. WNT Signaling Perturbations Underlie the Genetic Heterogeneity of Robinow Syndrome
    White, Janson J., Mazzeu, Juliana F., Coban-Akdemir, Zeynep, Bayram, Yavuz, Bahrambeigi, Vahid · AMERICAN JOURNAL OF HUMAN GENETICS · 2018 · Uluslararası · Q1 · DOI: 10.1016/j.ajhg.2017.10.002
  14. Vater's papillary stenosis in a child with abdominal pain
    Yilmaz, Elif, Erkan, Tulay, Senturk, Hakan, Kutlu, Tufan, Cullu, Fugen Cokugras · PEDIATRICS INTERNATIONAL · 2006 · Uluslararası · Q2 · DOI: 10.1111/j.1442-200X.2006.02233.x
  15. Pi*M Palermo Mutation in Bronchiectasis due to Alpha-1 Antitrypsin Deficiency: A Rare Genetic Cause
    Yildirimli, Beyza, Dogan, Coskun, Yilmaz Gulec, Elif, Seven Yalcin, Gonul · MEDENIYET MEDICAL JOURNAL · 2025 · Uluslararası · Q3 · DOI: 10.4274/MMJ.galenos.2025.25594
  16. Phenotypic expansion in DDX3X - a common cause of intellectual disability in females
    Wang, Xia, Posey, Jennifer E., Rosenfeld, Jill A., Bacino, Carlos A., Scaglia, Fernando · ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY · 2018 · Uluslararası · Q1 · DOI: 10.1002/acn3.622
  17. Spondylometaepiphyseal Dysplasia Short Limb-Abnormal Calcification Type in Turkish Patients Reveals a Novel Mutation and New Features
    Gulec, Elif Yilmaz, Ali, Bassam R., John, Anne, Tuysuz, Beyhan · MOLECULAR SYNDROMOLOGY · 2022 · Uluslararası · Q4 · DOI: 10.1159/000517848
  18. High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
    Mitani, Tadahiro, Isikay, Sedat, Gezdirici, Alper, Gulec, Elif Yilmaz, Punetha, Jaya · AMERICAN JOURNAL OF HUMAN GENETICS · 2021 · Uluslararası · Q1 · DOI: 10.1016/j.ajhg.2021.08.009
  19. Long-term follow-up of growth and puberty in 3-M syndrome: effects of growth hormone therapy and response variability
    Ozturk, Ayse Pinar, Aslanger, Ayca Dilruba, Altunoglu, Umut, Gulec, Cagri, Ozturan, Esin Karakilic · ENDOCRINE · 2025 · Uluslararası · Q2 · DOI: 10.1007/s12020-025-04417-2
  20. ATP6V0A2-related cutis laxa in 10 novel patients: Focus on clinical variability and expansion of the phenotype
    Beyens, Aude, Moreno-Artero, Ester, Bodemer, Christine, Cox, Helen, Gezdirici, Alper · EXPERIMENTAL DERMATOLOGY · 2019 · Uluslararası · Q1 · DOI: 10.1111/exd.13723
  21. Predictive value of cardiothoracic ratio as a marker of severity of aortic regurgitation and mitral regurgitation
    Ouztunc, Funda, Babaoglu, Kadir, Yilmaz, Elif, Demir, Tevfik, Ahunbay, Guelay · ANATOLIAN JOURNAL OF CARDIOLOGY · 2007 · Uluslararası · Q3
  22. Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
    Pottie, Lore, Adamo, Christin S., Beyens, Aude, Luetke, Steffen, Tapaneeyaphan, Piyanoot · AMERICAN JOURNAL OF HUMAN GENETICS · 2021 · Uluslararası · Q1 · DOI: 10.1016/j.ajhg.2021.04.016
  23. Base editing-derived models of human WDR34 and WDR60 disease alleles replicate retrograde intraflagellar transport (IFT) and hedgehog signaling defects
    Antony, Dinu, Gulec, Elif Yilmaz, Klawonn, Anna, Bakey, Zeineb, Schule, Isabel · COMMUNICATIONS BIOLOGY · 2026 · Uluslararası · DOI: 10.1038/s42003-026-10507-2
  24. The phenotypic and molecular genetic spectrum of Alstrom syndrome in 44 Turkish kindreds and a literature review of Alstrom syndrome in Turkey
    Ozanturk, Aysegul, Marshall, Jan D., Collin, Gayle B., Duzenli, Selma, Marshall, Robert P. · JOURNAL OF HUMAN GENETICS · 2015 · Uluslararası · Q2 · DOI: 10.1038/jhg.2014.85
  25. Cernunnos/XLF Deficiency: A Syndromic Primary Immunodeficiency
    Cipe, Funda Erol, Aydogmus, Cigdem, Hocaoglu, Arzu Babayigit, Kilic, Merve, Kaya, Gul Demet · CASE REPORTS IN PEDIATRICS · 2014 · Uluslararası · DOI: 10.1155/2014/614238
  26. Left subclavian artery originating from left pulmonary artery in DiGeorge syndrome
    Tang, Nazlican Civilibal, Alacam, Nida Celik, Bornaun, Helen, Erdem, Abdullah, Gulec, Elif Yilmaz · TURK GOGUS KALP DAMAR CERRAHISI DERGISI-TURKISH JOURNAL OF THORACIC AND CARDIOVASCULAR SURGERY · 2020 · Uluslararası · Q4 · DOI: 10.5606/tgkdc.dergisi.2020.19613
  27. Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey
    Gulec, Elif Yilmaz, Turgut, Gozde Tutku, Gezdirici, Alper, Karaman, Volkan, Ozturk, Fatma Nihal · CLINICAL GENETICS · 2022 · Uluslararası · Q1 · DOI: 10.1111/cge.14177
  28. Common Polymorphisms of Growth Hormone: Growth Hormone Receptor Axis in Turkish Children with Short Stature
    Gulec, Elif Yilmaz, Ercan, Oya, Adal, Servet Erdal, Buyru, Ayse Nur, Yildiz, Metin · TURKISH ARCHIVES OF PEDIATRICS · 2022 · Uluslararası · DOI: 10.5152/TurkArchPediatr.2022.21129
  29. Clinical and Molecular Findings in Two Siblings with a Novel Homozygous DCAF17 Frameshift Variant and Review of the Literature: A Case Report
    Oner, Simge Tuana Ay, Gulec, Elif Yilmaz · MOLECULAR SYNDROMOLOGY · 2026 · Uluslararası · Q3 · DOI: 10.1159/000552786
  30. De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease
    Ma, Lijiang, Bayram, Yavuz, McLaughlin, Heather M., Cho, Megan T., Krokosky, Alyson · HUMAN GENETICS · 2016 · Uluslararası · Q1 · DOI: 10.1007/s00439-016-1731-1
  31. The clinical significance ofA2ML1variants in Noonan syndrome has to be reconsidered
    Brinkmann, Julia, Lissewski, Christina, Pinna, Valentina, Vial, Yoann, Pantaleoni, Francesca · EUROPEAN JOURNAL OF HUMAN GENETICS · 2021 · Uluslararası · Q1 · DOI: 10.1038/s41431-020-00743-3
  32. Saturation editing of RNU4-2 reveals distinct dominant and recessive disorders
    De Jonghe, Joachim, Kim, Hyung Chul, Adedeji, Ayanfeoluwa, Leitao, Elsa, Dawes, Ruebena · NATURE · 2026 · Uluslararası · Q1 · DOI: 10.1038/s41586-026-10334-9
  33. EFFECTS OF CHROMOSOMAL TRANSLOCATIONS ON SPERM COUNT IN AZOOSPERMIC AND OLIGOSPERMIC CASES
    Ayaz, Akif, Yalcintepe, Sinem, Ozalp, Ozge, Gulec, Elif Yilmaz, Gezdirici, Alper · JOURNAL OF BASIC AND CLINICAL HEALTH SCIENCES · 2022 · Uluslararası · DOI: 10.30621/jbachs.1069678
  34. How to Manage Low Estriol Levels in Pregnancies, One Center Experience
    Gulec, Elif Yilmaz, Gezdirici, Alper, Ayaz, Akif, Ozturk, Fatma Nihal, Polat, Ibrahim · MEDENIYET MEDICAL JOURNAL · 2022 · Uluslararası · Q4 · DOI: 10.4274/MMJ.galenos.2022.22747
  35. The clinical and genetic spectrum of autosomal-recessive TOR1A-related disorders
    Saffari, Afshin, Lau, Tracy, Tajsharghi, Homa, Karimiani, Ehsan Ghayoor, Kariminejad, Ariana · BRAIN · 2023 · Uluslararası · Q1 · DOI: 10.1093/brain/awad039
  36. A case of PRRT2 mutation with temporary cerebellar diffusion restriction that mimics acute cerebellitis
    Simsekoglu, Ruken, Varoglu, Asuman Orhan, Gulec, Elif Yilmaz, Aktas, Gizem Aynur, Oner, Ozge Gonul · IDEGGYOGYASZATI SZEMLE-CLINICAL NEUROSCIENCE · 2026 · Uluslararası · Q4 · DOI: 10.18071/isz.79.0213
  37. Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders
    Levine, Jesse M., Calame, Daniel G., Sangermano, Riccardo, Du, Haowei, Saad, Ahmed · AMERICAN JOURNAL OF HUMAN GENETICS · 2026 · Uluslararası · Q1 · DOI: 10.1016/j.ajhg.2025.12.011
  38. Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations
    Verlee, Maxim, Beyens, Aude, Gezdirici, Alper, Gulec, Elif Yilmaz, Pottie, Lore · GENES · 2021 · Uluslararası · DOI: 10.3390/genes12040510
  39. Revisiting Wiedemann-Steiner Syndrome: Novel KMT2A Variants and Broadened Clinical Spectrum
    BOLAT HİLMİ,MANAV YİĞİT ZEHRA,YILMAZ GÜLEÇ ELİF,ARSLAN ATEŞ ESRA,MENGÜBAŞ ERBAŞ AYDAN,TÜRKYILMAZ AYBERK,TEKİN İSMİHAN MERVE,KAYHAN GÜLSÜM,AYDIN GÜMÜŞ AYDENİZ,ÜÇTEPE EYYÜP,KAZANCIOĞLU ELVİN,ATEŞ KÜBRA,UYANIK BÜLENT,ACIR SAHRA,SÖBÜ ELİF,KAMER İBRAHİM,ÇEBİ ALPERHAN,ANIK AHMET,AYANOĞLU MÜGE,BOZKURT GÖKAY · Balkan Medical Journal · 2026 · Uluslararası · Q2 · DOI: 10.4274/balkanmedj.galenos.2025.2025-9-81
  40. Phenotypic and mutational spectrum of ROR2-related Robinow syndrome
    Lima, Ariadne R., Ferreira, Barbara M., Zhang, Chaofan, Jolly, Angad, Du, Haowei · HUMAN MUTATION · 2022 · Uluslararası · Q1 · DOI: 10.1002/humu.24375
  41. Down Syndrome: From Pregnancy through Childhood in Türkiye
    Gulec, Elif Yilmaz, Cetin, Sena, Gunes, Mustafa, Gezdirici, Alper · MOLECULAR SYNDROMOLOGY · 2026 · Uluslararası · Q3 · DOI: 10.1159/000548225
  42. A nucleotide deletion and frame-shift cause analbuminemia in a Turkish family
    Caridi, Gianluca, Gulec, Elif Yilmaz, Campagnoli, Monica, Lugani, Francesca, Onal, Hasan · BIOCHEMIA MEDICA · 2016 · Uluslararası · Q1 · DOI: 10.11613/BM.2016.031
  43. The evaluation of potential global impact of the N501Y mutation in SARS-COV-2 positive patients
    Komurcu, Selen Zeliha Mart, Artik, Yakup, Cesur, Nevra Pelin, Tanriverdi, Arzu, Erdogan, Derya Cakir · JOURNAL OF MEDICAL VIROLOGY · 2022 · Uluslararası · Q1 · DOI: 10.1002/jmv.27413
  44. Developmental genomics of limb malformations: Allelic series in association with gene dosage effects contribute to the clinical variability
    Duan, Ruizhi, Hijazi, Hadia, Gulec, Elif Yilmaz, Eker, Hatice Kocak, Costa, Silvia R. · HUMAN GENETICS AND GENOMICS ADVANCES · 2022 · Uluslararası · Q1 · DOI: 10.1016/j.xhgg.2022.100132
  45. The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance
    Pehlivan, Davut, Bayram, Yavuz, Gunes, Nilay, Akdemir, Zeynep Coban, Shukla, Anju · AMERICAN JOURNAL OF HUMAN GENETICS · 2019 · Uluslararası · Q1 · DOI: 10.1016/j.ajhg.2019.05.015
  46. The Effect of Maternal Age on the Incidence of Major Malformations and Operations in Children with Down Syndrome
    Gulec, Elif Yilmaz, Gezdirici, Alper · MEDENIYET MEDICAL JOURNAL · 2022 · Uluslararası · Q4 · DOI: 10.4274/MMJ.galenos.2022.09086
  47. Diagnostic Value of Microarray Method in Autism Spectrum Disorder, Intellectual Disability, and Multiple Congenital Anomalies and Some Candidate Genes for Autism: Experience of Two Centers
    Ayaz, Akif, Gezdirici, Alper, Gulec, Elif Yilmaz, Ozalp, Ozge, Koseoglu, Abdullah Huseyin · MEDENIYET MEDICAL JOURNAL · 2022 · Uluslararası · Q4 · DOI: 10.4274/MMJ.galenos.2022.70962
  48. Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases
    Antony, Dinu, Gulec Yilmaz, Elif, Gezdirici, Alper, Slagter, Lennart, Bakey, Zeineb · FRONTIERS IN GENETICS · 2022 · Uluslararası · DOI: 10.3389/fgene.2022.861236
  49. Effect of different storage conditions on COVID-19 RT-PCR results
    Gulec, Elif Yilmaz, Cesur, Nevra P., Fazlioglu, Gonca Yesilyurt, Kazezoglu, Cemal · JOURNAL OF MEDICAL VIROLOGY · 2021 · Uluslararası · Q1 · DOI: 10.1002/jmv.27204
  50. Prenatal Diagnosis of Persistent Hyperplastic Primary Vitreous Report of 2 Cases and Review of the Literature
    Esmer, Aytul Corbacioglu, Sivrikoz, Tugba Sarac, Gulec, Elif Yilmaz, Sezer, Salim, Kalelioglu, Ibrahim · JOURNAL OF ULTRASOUND IN MEDICINE · 2016 · Uluslararası · Q2 · DOI: 10.7863/ultra.15.11040
  51. How necessary is to analyze PTPN11 gene in fetuses with first trimester cystic hygroma and normal karyotype?
    Gezdirici, Alper, Ekiz, Ali, Gulec, Elif Yilmaz, Kaya, Basak, Sezer, Salim · JOURNAL OF MATERNAL-FETAL & NEONATAL MEDICINE · 2017 · Uluslararası · Q2 · DOI: 10.1080/14767058.2016.1191463

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