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Author

Hatip Aydın

Observed names: H Aydin, Hatip AYDIN, Hatip Aydin
ORCID: 0000-0003-4488-3186
Observed ORCID: 0000-0003-4488-3186
OpenAlex ID: A5102933153
Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
2015 · Ender Karaca, Tamar Harel, et al. · Neuron · 316
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Global transcriptional disturbances underlie Cornelia de Lange syndrome and related phenotypes
2015 · Bo Yuan, Davut Pehlivan, et al. · Journal of Clinical Investigation · 161
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Genotype and phenotype in patients with Noonan syndrome and a RIT1 mutation
2016 · Karim Kouz, Christina Lissewski, et al. · Genetics in Medicine · 111
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Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin
2016 · Yavuz Bayram, Ender Karaca, et al. · Journal of Clinical Investigation · 110
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Ankle2, a Target of Zika Virus, Controls Asymmetric Cell Division of Neuroblasts and Uncovers a Novel Microcephaly Pathway
2019 · Nichole Link, Hyunglok Chung, et al. · Developmental Cell · 109
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Paralog Studies Augment Gene Discovery: DDX and DHX Genes
2019 · Ingrid Paine, Jennifer E. Posey, et al. · The American Journal of Human Genetics · 106
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High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
2021 · Tadahiro Mitani, Sedat Isikay, et al. · The American Journal of Human Genetics · 100
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DNA damage is increased in lymphocytes of patients with metabolic syndrome
2015 · Ali Karaman, Hatip Aydın, et al. · Mutation Research/Genetic Toxicology and Environmental Mutagenesis · 53
Loss of non-motor kinesin KIF26A causes congenital brain malformations via dysregulated neuronal migration and axonal growth as well as apoptosis
2022 · Xuyu Qian, Ellen M. DeGennaro, et al. · Developmental Cell · 32
Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia
2014 · Davut Pehlivan, Ender Karaca, et al. · European Journal of Human Genetics · 24
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Alternative genomic diagnoses for individuals with a clinical diagnosis of Dubowitz syndrome
2020 · David A. Dyment, Anne O'Donnell‐Luria, et al. · American Journal of Medical Genetics Part A · 21
Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral‐facial‐digital syndrome type VI
2015 · Yavuz Bayram, Hatip Aydin, et al. · American Journal of Medical Genetics Part A · 15
CLINICAL REPORT OF A PATIENT WITH DE NOVO TRISOMY 12q23.1q24.33.
2015 · B B Geckinli, H Aydin, et al. · PubMed · 12
Pure gonadal dysgenesis (Swyer syndrome) due to microdeletion in the SRY gene: a case report
2014 · Gül Yesiltepe Mutlu, Heves Kırmızıbekmez, et al. · Journal of Pediatric Endocrinology and Metabolism · 11
A novel missense mutation, p.(R102W) in WNT7A causes Al-Awadi Raas-Rothschild syndrome in a fetus
2016 · Mehmet Burak Mutlu, Arda Cetinkaya, et al. · European Journal of Medical Genetics · 10
A novel frameshift mutation and infrequent clinical findings in two cases with Dyggve–Melchior–Clausen syndrome
2013 · Mehmet Seven, Erkan Koparir, et al. · Clinical Dysmorphology · 10
22.5 MB DELETION OF 13q31.1-q34 ASSOCIATED WITH HPE, DWM, AND HSCR: A CASE REPORT AND REDEFINING THE SMALLEST DELETED REGIONS.
2016 · M Y Alp, A H Çebi, et al. · PubMed · 7
A Turkish patient of typical Loeys-Dietz syndrome with a TGFBR2 mutation.
2010 · E Tug, B Loeys, et al. · PubMed · 6
A Turkish patient with large 17p11.2 deletion presenting with Smith Magenis syndrome.
2011 · E Tug, N Cine, et al. · PubMed · 4
Tetrasomy 12p presenting with long appendix: a prenatal case.
2013 · H Aydin, R Arisoy, et al. · PubMed · 3
MICROARRAY DELINEATION OF DE NOVO DUPLICATION 1q32q42 IN A CHILD SHOWING MULTIPLE ANOMALIES AND DYSMORPHISM.
2015 · O Gorukmez, H Aydin, et al. · PubMed · 1
İskelet Displazilerine Özgü Array-CGH Dizaynı ve Uygulaması
2019 · Hatip AYDIN, Aysel KALAYCI YİĞİN, et al. · Phoenix Medical Journal
Geç Tanılı Rubinstein-Taybi Sendromlu Bir Olgu
2017 · Hatip AYDIN, Arda ÇETİNKAYA, et al. · Zeynep Kamil Tıp Bülteni
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A case of osteogenesis imperfecta mimicking the features of mucopolysaccharidosis IVA
2015 · Yesiltepe Mutlu Gul, Hatip Aydin, et al. · Bone Abstracts
Anensefalide Gebelerin Folat ve Vitamin B12 Düzeyleri ile Faktör V Leiden, Faktör II G20210A, MTHFR C667T ve MTHFR A1298C Polimorfizlerinin Önemi
2015 · Hatip Aydın, Resul Arısoy, et al. · DergiPark (Istanbul University)
Works count: 30
Citation count: 1,222
H-index: 12
I10-index: 16
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