Mert Karakaya

930 citations

22 papers · 358 indexed · h-index 11

Genetics top 5%
- Neurogenetic and Muscular Disorders Research 6
Clinical Biochemistry
- Metabolism and Genetic Disorders 3
Molecular Biology
- RNA modifications and cancer 4
- Mitochondrial Function and Pathology 3
- Muscle Physiology and Disorders 3
Neurology
- Neurological diseases and metabolism 4
Neurology
- Neurological diseases and metabolism 4
Cellular and Molecular Neuroscience
- Hereditary Neurological Disorders 3
Cell Biology
- Cellular transport and secretion 3

Co-authors: Brunhilde Wirth Natalia Mendoza-Ferreira Min Jeong Kye Uluç Yiş Haluk Topaloğlu Alan H. Beggs Ozge Ceyhan‐Birsoy Hölger Thiele
Cited by: Genetics Clinical Biochemistry Molecular Biology
Journals: Neuromuscular Disorders (3 papers)Molecular Case Studies (2 papers)Journal of Neuromuscular Diseases (1 paper)
Partner nations: Germany Türkiye United States

In The Last Decade

Mert Karakaya

22 papers receiving 356 citations

Peers

Countries citing papers authored by Mert Karakaya

Since Specialization

Citations

This map shows the geographic impact of Mert Karakaya's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Mert Karakaya with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Mert Karakaya more than expected).

Fields of papers citing papers by Mert Karakaya

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Mert Karakaya. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Mert Karakaya. The network helps show where Mert Karakaya may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Mert Karakaya, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Mert Karakaya Line = papers co-authored together Mert Karakaya links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	The POLG Variant c.678G>C; p.(Gln226His) Is Associated with Mitochondrial Abnormalities in Fibroblasts Derived from a Patient Compared to a First-Degree Relative Genes ·Mohammad Akber Kazi,بابک سوری,Amal Babu,Keil Gentry,Yong Zhu,Mert Karakaya,Hans Zempel	2025	1
2	Smart Garbage Collection System for Smart Cities Mert Karakaya,郑建兰	2022	1
3	Clinical, electrophysiological and genetic characteristics of childhood hereditary polyneuropathies Revue Neurologique ·Ariunzaya Shijirbaatar,Mert Karakaya,Souza, Fernando Falci de, 1979-,Marie‐Christine Fischer,Sattwik Barua,Tatuhiko Saito,(unknown),Albena Jordanova,Semra Hız,Brunhilde Wirth,Uluç Yiş	2020	4
4	Hereditary polyneuropathy with optic atrophy due to PDXK variant leading to impaired Vitamin B6 metabolism Neuromuscular Disorders ·Sattwik Barua,Natalia Mendoza-Ferreira,Reza Maroofian,Viorica Chelban,Vittoria Noviello,Philippa B. Mills,Reza Boostani,Yun Li,Ehsan Ghayoor Karimiani,Holger Thiele,Henry Houlden,Brunhilde Wirth,Mert Karakaya	2020	11
5	De novo DNM1L variant presenting with severe muscular atrophy, dystonia and sensory neuropathy European Journal of Medical Genetics ·Sattwik Barua,Ariunzaya Shijirbaatar,Souza, Fernando Falci de, 1979-,Holger Thiele,Uluç Yiş,Brunhilde Wirth,Mert Karakaya	2020	12
6	Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next Annual Review of Genomics and Human Genetics ·Brunhilde Wirth,Mert Karakaya,Min Jeong Kye,Natalia Mendoza-Ferreira	2020	167
7	Novel mutations in SLC6A5 with benign course in hyperekplexia Molecular Case Studies ·Hormos Salimi Dafsari,Amit Kawalia,Rosanne Sprute,Mert Karakaya,Yin Ping Ren,Peter Herkenrath,Peter Nürnberg,Susanne Motameny,Hölger Thiele,Sebahattin Çırak	2019	10
8	Report of a novel ATP7A mutation causing distal motor neuropathy Neuromuscular Disorders ·Francesca Gualandi,Elisabetta Sette,F. Fortunato,Stefania Bigoni,D. De Grandis,C. Scotton,Rita Selvatici,Marcella Neri,Alex Incensi,Rocco Liguori,Markus Storbeck,Mert Karakaya,V. Simioni,Stefano Squarzoni,Vincent Timmerman,Brunhilde Wirth,Vincenzo Donadio,V. Tugnoli,Alessandra Ferlini	2019	13
9	Giant axonal neuropathy: A differential diagnosis of consideration The Turkish Journal of Pediatrics ·Souza, Fernando Falci de, 1979-,Mert Karakaya,Brunhilde Wirth,Oisin Mac Aodha,Uluç Yiş	2019	6
10	Biallelic variant in AGTPBP1 causes infantile lower motor neuron degeneration and cerebellar atrophy American Journal of Medical Genetics Part A ·Mert Karakaya,Ariunzaya Shijirbaatar,Janine Altmueller,Hölger Thiele,ChristinaM Runyon,Uluç Yiş,Brunhilde Wirth	2019	31
11	Biallelic CHP1 mutation causes human autosomal recessive ataxia by impairing NHE1 function Neurology Genetics ·Natalia Mendoza-Ferreira,Marie Coutelier,Alexandre Lädermann,Seyyedmohsen Hosseinibarkooie,Heiko Löhr,Svenja Schneider,Ben Crow,Mert Karakaya,Markus Rießland,C. Pichlo,Laura Torres‐Benito,Stephanie Roser,Stephan Züchner,Alexis Brice,Alexandra Dürr,Matthias Hammerschmidt,Giovanni Stévanin,Brunhilde Wirth	2018	15
12	P385 Hypotonic infant with riboflavin transporter deficiency due to slc52a2 mutations HighWire Press Open Archive ·Baba Arisa,Hacer Ergin,Sharan Sethuraman,Uluç Yiş,Mert Karakaya,Janine Altmüller,Peter Nürnberg,Brunhilde Wirth,Rolando Martínez Mora	2017	3
13	Occipital cortex dysgenesis with white matter changes due to mutations in Laminin a2 The Turkish Journal of Pediatrics ·Uluç Yiş,Ганяев Александр Матвеевич,Sedat Işıkay,Mert Karakaya,Murelle Harrison,Firda Ayuni Safyentri,Jingcheng Hou,K. Krishna kumar,Sebahattin Çırak	2017	1
14	Late diagnosis of a truncating WISP3 mutation entails a severe phenotype of progressive pseudorheumatoid dysplasia Molecular Case Studies ·Jesus M. Rodilla,Amit Kawalia,Mert Karakaya,Janine Altmüller,Peter Nürnberg,Sebahattin Çırak	2017	5
15	A Novel Missense Variant in the AGRN Gene; Congenital Myasthenic Syndrome Presenting With Head Drop Journal of Clinical Neuromuscular Disease ·Mert Karakaya,Ozge Ceyhan‐Birsoy,Alan H. Beggs,Haluk Topaloğlu	2017	21
16	Mendeliome sequencing enables differential diagnosis and treatment of neonatal lactic acidosis PubMed ·Walid Fazeli,Mert Karakaya,Peter Herkenrath,Anne Vierzig,Jörg Dötsch,Jürgen‐Christoph von Kleist-Retzow,Sebahattin Çırak	2016	10
17	Importance of Skin Changes in the Differential Diagnosis of Congenital Muscular Dystrophies BioMed Research International ·Uluç Yiş,Murelle Harrison,Mert Karakaya,Semra Hız Kurul,Sebahattin Çırak	2016	7
18	Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone Neuropediatrics ·Mert Karakaya,Raoul Heller,Isabelle Soucy,Klaus‐Peter Zimmer,Cho‐Ming Chao,Peter Nürnberg,Sebahattin Çırak	2016	12
19	Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement Journal of Neuromuscular Diseases ·Ozge Ceyhan‐Birsoy,Beril Talim,Lindsay C. Swanson,Mert Karakaya,Y.Q. Liu,Alan H. Beggs,Haluk Topaloğlu	2015	10
20	G.P.140 Neuromuscular Disorders ·Mert Karakaya,Ozge Ceyhan‐Birsoy,Jaime Chacon,Haluk Topaloğlu	2014	2

About Mert Karakaya

Mert Karakaya is a scholar working on Genetics, Neurology and Clinical Biochemistry, having authored 22 papers that have together received 358 indexed citations. Recurring topics across this work include Neurogenetic and Muscular Disorders Research (6 papers), Neurological diseases and metabolism (4 papers), RNA modifications and cancer (4 papers), Mitochondrial Function and Pathology (3 papers), Muscle Physiology and Disorders (3 papers), Metabolism and Genetic Disorders (3 papers), Hereditary Neurological Disorders (3 papers) and Cellular transport and secretion (3 papers). The work is most often cited by research in Genetics (186 citations), Clinical Biochemistry (27 citations) and Molecular Biology (245 citations). Mert Karakaya has collaborated with scholars based in Germany, Türkiye and United States. Frequent co-authors include Brunhilde Wirth, Natalia Mendoza-Ferreira, Min Jeong Kye, Uluç Yiş, Haluk Topaloğlu, Alan H. Beggs, Ozge Ceyhan‐Birsoy, Hölger Thiele, Sebahattin Çırak and Janine Altmueller. Their work appears in journals such as Neuromuscular Disorders, Molecular Case Studies, Journal of Neuromuscular Diseases, European Journal of Medical Genetics and Annual Review of Genomics and Human Genetics.

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