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Ayça Dilruba Aslanger

Observed names: A D Aslanger, A. D. Aslanger, A.D., Aslanger, Aslanger, Ayca Dilruba, Aslanger, Ayça Dilruba, Ayca Dilruba Aslanger, Ayca Aslanger, Ayca D. Aslanger, Ayca Dilruba Aslanger, Ayça Aslanger
Observed institutions: Koç University, Bezmiâlem Vakıf Üniversitesi, İstanbul Eğitim ve Araştırma Hastanesi, Istanbul University-Cerrahpaşa, Health Sciences University Derince Training and Research Hospital, Istanbul University
ORCID: 0000-0003-1770-1762
Observed ORCID: 0000-0003-1770-1762
OpenAlex ID: A5017572323
LRP4 Mutations Alter Wnt/β-Catenin Signaling and Cause Limb and Kidney Malformations in Cenani-Lenz Syndrome
2010 · Yun Li, Barbara Pawlik, et al. · The American Journal of Human Genetics · 172
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Natural History of Congenital Generalized Lipodystrophy: A Nationwide Study From Turkey
2016 · Baris Akinci, Huseyin Onay, et al. · The Journal of Clinical Endocrinology & Metabolism · 99
Loss of NARS1 impairs progenitor proliferation in cortical brain organoids and leads to microcephaly
2020 · Lu Wang, Zhen Li, et al. · Nature Communications · 91
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Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome
2017 · Rasim Ozgur Rosti, Bethany N Sotak, et al. · Journal of Medical Genetics · 90
Mutations in ACTRT1 and its enhancer RNA elements lead to aberrant activation of Hedgehog signaling in inherited and sporadic basal cell carcinomas
2017 · Elodie Bal, Hyun-Sook Park, et al. · Nature Medicine · 76
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De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects
2020 · Andreea Manole, Stephanie Efthymiou, et al. · The American Journal of Human Genetics · 64
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Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases
2009 · T Furuichi, H Kayserili, et al. · Journal of Medical Genetics · 49
Challenges in the clinical management of rare diseases and center-based multidisciplinary approach to creating solutions
2025 · D. Gunes, M. Karaca, et al. · European Journal of Pediatrics · 34
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Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders
2023 · Reza Maroofian, Rauan Kaiyrzhanov, et al. · Brain · 23
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Newly described clinical features in two siblings with MACS syndrome and a novel mutation in RIN2
2013 · Ayca D. Aslanger, Umut Altunoglu, et al. · American Journal of Medical Genetics Part A · 16
A Rare Cause of Adrenal Insufficiency – Isolated ACTH Deficiency Due to TBX19 Mutation: Long-Term Follow-Up of Two Cases and Review of the Literature
2019 · Aslı Derya Kardelen Al, Şükran Poyrazoğlu, et al. · Hormone Research in Paediatrics · 15
Should Patients with Down Syndrome be Screened for Testicular Microlithiasis?
2014 · Ayca Aslanger, Mustafa Ozdemir, et al. · European Journal of Pediatric Surgery · 15
Biallelic loss of TRAPPC9 function links vesicle trafficking pathway to autosomal recessive intellectual disability
2022 · Ayca Dilruba Aslanger, Beyza Goncu, et al. · Journal of Human Genetics · 13
Clinical and bi-genomic DNA findings of patients suspected to have mitochondrial diseases
2023 · Asuman Gedikbasi, Guven Toksoy, et al. · Frontiers in Genetics · 12
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A Second Family with Myhre Syndrome Caused by the Same Recurrent SMAD4 Pathogenic Variation (p.Arg496Cys)
2023 · Şenol Demir, Ceren Alavanda, et al. · Molecular Syndromology · 12
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Febrile seizures in children with familial Mediterranean fever: Coincidence or association?
2015 · Elif Çomak, Özlem Tüfekçi, et al. · European Journal of Paediatric Neurology · 12
An investigation of the etiology and follow‐up findings in 35 children with overgrowth syndromes, including biallelic SUZ12 variant
2023 · Aylin Yüksel Ülker, Dilek Uludağ Alkaya, et al. · American Journal of Medical Genetics Part A · 9
A novel shoulder disability staging system for scapulothoracic arthrodesis in patients with facioscapulohumeral dystrophy
2020 · İlker Eren, Olgar Birsel, et al. · Orthopaedics & Traumatology Surgery & Research · 9
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Voltage-gated sodium channel epilepsies in a tertiary care center: Phenotypic spectrum with correlation to predicted functional effects
2024 · Fulya Kurekci, Mehmet Akif Kilic, et al. · Epilepsy & Behavior · 8
Expanding Clinical Phenotype of TRAPPC12-Related Childhood Encephalopathy: Two Cases and Review of Literature
2020 · Ayca Dilruba Aslanger, Emine Demiral, et al. · Neuropediatrics · 8
Comprehensive clinical and molecular characterization with long-term outcomes in 40 patients with congenital hyperinsulinism
2025 · Zehra Yavas Abali, Firdevs Bas, et al. · Endocrine · 5
Phenotype-Genotype Correlations of GH1 Gene Variants in Patients with Isolated Growth Hormone Deficiency or Multiple Pituitary Hormone Deficiency
2023 · Ayşe Pınar Öztürk, Zehra Yavas Abali, et al. · Hormone Research in Paediatrics · 5
Functional characterization of KCNMA1 mutation associated with dyskinesia, seizure, developmental delay, and cerebellar atrophy
2023 · Emrah Yucesan, Beyza Goncu, et al. · International Journal of Neuroscience · 5
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A Novel Mutation in the TRIP11 Gene: Diagnostic Approach from Relatively Common Skeletal Dysplasias to an Extremely Rare Odontochondrodysplasia
2021 · Burcu Yeter, Ayca Dilruba Aslanger, et al. · Journal of Clinical Research in Pediatric Endocrinology · 4
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First Observation of Hb South Florida [beta 1(NA1) Val>Met] in Turkey
2013 · Ayça Dilruba Aslanger, Aynur Akbulut, et al. · Turkish Journal of Hematology · 4
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Works count: 96
Citation count: 885
H-index: 13
I10-index: 16
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