Nilay Güneş - Publications, H-index & Citations

Nilay Güneş

Istanbul University-Cerrahpaşa

12H指数

41论文数

458被引数

收录论文 17

发表时间

Age- and sex-specific serum creatinine reference curves in children and adolescents with Down syndrome 唐氏综合征儿童和青少年年龄和性别特异性血清肌酐参考曲线

European Journal of Pediatrics

IF2.6

2026-09-16

PREAI

Kutlay Gür; Seha Saygılı; Nilay Güneş; Dilek Uludağ Alkaya; Nilüfer Göknar; Birol Öztürk; Hazal Cansu Çulpan; Hilal Onur; Salih Türk; Esra Karabağ Yılmaz; Ayşe Ağbaş; Nur Canpolat; Beyhan Tüysüz

Diagnostic Yield of Genetic Disorders in Children with Hip Dysplasia Mimicking Bilateral Legg-Calvé-Perthes Disease 髋发育不良模拟双侧股骨头骨骺缺血坏死患儿中遗传性疾病的诊断检出率

Diagnostics

IF3.3

2026-09-08

OAAI

Beyhan Tüysüz; Nilay Güneş; Timur Yıldırım; Hasan Karakaş; Büşra Kasap; Hilal Onur; Dilek Uludağ Alkaya; Sezgin Şahin; Mehmet Müfit Orak; Gazi Zorer; Sebuh Kuruğoğlu; Özgür Kasapçopur

Acromelic dysplasias: similarities and differences in clinical and molecular findings in 12 Turkish patients 肢端异常发育不良：12例土耳其患者临床和分子发现的相似性与差异性

European Journal of Pediatrics

IF2.6

2026-05-19

OAAI

N. Güneş; S. Türk; H. Onur; K. Gür; C. Yüksel Elgin; E. Çifçi Sunamak; D. Uludağ Alkaya; A. Güler Eroğlu; B. Tüysüz

Elucidating the Genetic Landscape, Phenotypic Spectrum, and Pathogenic Mechanisms in a Turkish Cohort with Primary Microcephaly 揭示土耳其原发性小头畸形队列的遗传景观、表型谱及致病机制

Clinical Genetics

IF2.3

2026-05-15

PREAI

Beyhan Tüysüz; Ahmet Okay Çağlayan; Büşra Kasap; Dilek Uludağ Alkaya; Nilay Güneş; Hüseyin Kılıç; Sema Saltık; Ahmet Veysi Demirbilek; Naci Koçer; Cengiz Yalçınkaya

The Clinical and Molecular Spectrum of Turkish Patients with Syndromic Craniosynostosis: A Single Center Study 土耳其综合征性颅缝早闭患者的临床与分子谱：一项单中心研究

Turkish Archives of Pediatrics

IF1.7

2026-05-01

PREAI

Onur, Hilal; Alkaya, Dilek Uludag; Kafadar, Ali Metin; Tahmazoglu, Burak; Aykut, Ayca; Aydin, Yagmur; Gunes, Nilay; Tuysuz, Beyhan

Long-Term Follow-Up of a Patient with a Novel Homozygous ASTN1 Variant: A Case Report 新型纯合ASTN1变异患者长期随访：病例报告

Neurology International

IF3

2026-04-19

OAAI

Buşra Kasap; Dilek Uludağ Alkaya; Nilay Güneş; Salih Türk; Barış Korkmaz; Beyhan Tüysüz

Genes

IF2.8

2026-04-15

OAAI

Hasan Emir Taner; Dilek Uludağ Alkaya; Ayşe Kalyoncu Uçar; Ali Şeker; Tuncay Centel; Timur Yıldırım; Nilay Güneş; Beyhan Tüysüz

Insights into Natural History, Phenotypic, and Molecular Spectrum in a Large Cohort of Osteosclerotic Disorders

CALCIFIED TISSUE INTERNATIONAL

IF3.2

2025-04-08

OAAI

Alkaya, Dilek Uludag; Usluer, Esra; Unkar, Zeynep Alp; Seker, Ali; Adaletli, Ibrahim; Gunes, Nilay; Madazli, Riza; Kadioglu, Pinar; Derbent, Murat; Tuysuz, Beyhan

Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis

JOURNAL OF MEDICAL GENETICS

IF3.7

2024-03-26

PREAI

Altunoglu, Umut; Palencia-Campos, Adrian; Gunes, Nilay; Turgut, Gozde Tutku; Nevado, Julian; Lapunzina, Pablo; Valencia, Maria; Iturrate, Asier; Otaify, Ghada; Elhossini, Rasha; Ashour, Adel; K. Amin, Asmaa; Elnahas, Rania F.; Fernandez-Nunez, Elisa; Flores, Carmen-Lisset; Arias, Pedro; Tenorio, Jair; Chamorro Fernandez, Carlos Israel; Guven, Yeliz; Ozsu, Elif; Eklioglu, Beray Selver; Ibarra-Ramirez, Marisol; Diness, Birgitte Rode; Burnyte, Birute; Ajmi, Houda; Yuksel, Zafer; Yildirim, Ruken; Unal, Edip; Abdalla, Ebtesam; Aglan, Mona; Kayserili, Hulya; Tuysuz, Beyhan; Ruiz-Perez, Victor

Clinical features of generalized lipodystrophy in Turkey: A cohort analysis

DIABETES OBESITY & METABOLISM

IF5.7

2023-04-11

OAAI

Yildirim Simsir, Ilgin; Tuysuz, Beyhan; Ozbek, Mehmet Nuri; Tanrikulu, Seher; Celik Guler, Merve; Karhan, Asuman Nur; Denkboy Ongen, Yasemin; Gunes, Nilay; Soyaltin, Utku Erdem; Altay, Canan; Nur, Banu; Ozalkak, Servan; Akgun Dogan, Ozlem; Dursun, Fatma; Pekkolay, Zafer; Eren, Mehmet Ali; Usta, Yusuf; Ozisik, Secil; Ozgen Saydam, Basak; Adiyaman, Suleyman Cem; Unal, Mehmet Cagri; Gungor Semiz, Gokcen; Turan, Ihsan; Eren, Erdal; Kayserili, Hulya; Jeru, Isabelle; Vigouroux, Corinne; Atik, Tahir; Onay, Huseyin; Ozen, Samim; Arioglu Oral, Elif; Akinci, Baris

Early Diagnostic Signs and the Natural History of Typical Findings in Cohen Syndrome

JOURNAL OF PEDIATRICS

IF3.5

2023-01-01

PREAI

Gunes, Nilay; Alkaya, Dilek Uludag; Demirbilek, Veysi; Yalcinkaya, Cengiz; Tuysuz, Beyhan

An observational study of serum vitamin D status in critically ill children admitted to the pediatric intensive care unit 对入住儿科重症监护室的危重儿童血清维生素D状态的观察性研究

ARCHIVES OF MEDICAL SCIENCE

IF3.3

2022-10-06

OAAI

Gunes, Nilay; Cam, Halit

Osteogenesis imperfecta in 140 Turkish families: Molecular spectrum and, comparison of long-term clinical outcome of those with COL1A1/A2 and biallelic variants

BONE

IF3.6

2022-02-01

PREAI

Tuysuz, Beyhan; Elkanova, Leyla; Alkaya, Dilek Uludag; Gulec, Cagri; Toksoy, Guven; Gunes, Nilay; Yazan, Hakan; Bayhan, A. Ilhan; Yildirim, Timur; Yesil, Gozde; Uyguner, Z. Oya

Bi-allelic GAD1 variants cause a neonatal onset syndromic developmental and epileptic encephalopathy

BRAIN

IF11.7

2020-04-13

OAAI

Chatron, Nicolas; Becker, Felicitas; Morsy, Heba; Schmidts, Miriam; Hardies, Katia; Tuysuz, Beyhan; Roselli, Sandra; Najafi, Maryam; Alkaya, Dilek Uludag; Ashrafzadeh, Farah; Nabil, Amira; Omar, Tarek; Maroofian, Reza; Karimiani, Ehsan Ghayoor; Hussien, Haytham; Kok, Fernando; Ramos, Luiza; Gunes, Nilay; Bilguvar, Kaya; Labalme, Audrey; Alix, Eudeline; Sanlaville, Damien; de Bellescize, Julitta; Poulat, Anne-Lise; Moslemi, Ali-Reza; Lerche, Holger; May, Patrick; Lesca, Gaetan; Weckhuysen, Sarah; Tajsharghi, Homa

Combined in vitro and in silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta

HUMAN MUTATION

IF3.7

2019-10-14

OAAI

Danyukova, Tatyana; Ludwig, Nataniel F.; Velho, Renata V.; Harms, Frederike L.; Gunes, Nilay; Tidow, Henning; Schwartz, Ida V.; Tuysuz, Beyhan; Pohl, Sandra

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2019-07-01

OAAI

Pehlivan, Davut; Bayram, Yavuz; Gunes, Nilay; Akdemir, Zeynep Coban; Shukla, Anju; Bierhals, Tatjana; Tabakci, Burcu; Sahin, Yavuz; Gezdirici, Alper; Fatih, Jawid M.; Gulec, Elif Yilmaz; Yesil, Gozde; Punetha, Jaya; Ocak, Zeynep; Grochowski, Christopher M.; Karaca, Ender; Albayrak, Hatice Mutlu; Radhakrishnan, Periyasamy; Erdem, Haktan Bagis; Sahin, Ibrahim; Yildirim, Timur; Bayhan, Ilhan A.; Bursali, Aysegul; Elmas, Muhsin; Yuksel, Zafer; Ozdemir, Ozturk; Silan, Fatma; Yildiz, Onur; Yesilbas, Osman; Isikay, Sedat; Balta, Burhan; Gu, Shen; Jhangiani, Shalini N.; Doddapaneni, Harsha; Hu, Jianhong; Muzny, Donna M.; Boerwinkle, Eric; Gibbs, Richard A.; Tsiakas, Konstantinos; Hempel, Maja; Girisha, Katta Mohan; Gul, Davut; Posey, Jennifer E.; Elcioglu, Nursel H.; Tuysuz, Beyhan; Lupski, James R.

The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations

HUMAN MUTATION

IF3.7

2019-04-13

OAAI

Velho, Renata Voltolini; Harms, Frederike L.; Danyukova, Tatyana; Ludwig, Nataniel F.; Friez, Michael J.; Cathey, Sara S.; Filocamo, Mirella; Tappino, Barbara; Gunes, Nilay; Tuysuz, Beyhan; Tylee, Karen L.; Brammeier, Kathryn L.; Heptinstall, Lesley; Oussoren, Esmee; van der Ploeg, Ans T.; Petersen, Christine; Alves, Sandra; Duran Saavedra, Gloria; Schwartz, Ida V.; Muschol, Nicole; Kutsche, Kerstin; Pohl, Sandra

研究方向