Ender Karaca

4.5k citations

25 papers · 544 indexed · h-index 13

Impact in

Genetics top 10%
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Developmental Biology

Papers in ⓘ

Genetics 16
- Genomics and Rare Diseases 6
- Genomic variations and chromosomal abnormalities 6
- Connective tissue disorders research 2
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities 2
- Genetic Syndromes and Imprinting 2
Developmental Biology 1

Co-authors: James R. Lupski (11 shared papers)Richard A. Gibbs (10 shared papers)Shalini N. Jhangiani (10 shared papers)Yavuz Bayram (8 shared papers)Zeynep Coban‐Akdemir (8 shared papers)Davut Pehli̇van (8 shared papers)Tomasz Gambin (6 shared papers)Arif Yönem (1 shared paper)
Journals: Genetics in Medicine (4 papers)Gene (1 paper)European Journal of Human Genetics (1 paper)Human Genetics (1 paper)Pediatric Neurology (1 paper)
Partner nations: Türkiye United States Chile

In The Last Decade

Ender Karaca

24 papers receiving 532 citations

Peers

Countries citing papers authored by Ender Karaca

Since Specialization

Citations

This map shows the geographic impact of Ender Karaca'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 Ender Karaca with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Ender Karaca more than expected).

Fields of papers citing papers by Ender Karaca

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Ender Karaca. 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 Ender Karaca. The network helps show where Ender Karaca may publish in the future.

Co-authors

The 25 scholars most cited alongside Ender Karaca, 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 Ender Karaca Line = papers co-authored together Ender Karaca links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

Showing the 20 most-cited of 25 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles The American Journal of Human Genetics ·Zeynep Coban‐Akdemir, Janson J. White, Xiaofei Song, Shalini N. Jhangiani, Jawid M. Fatih, Tomasz Gambin, Yavuz Bayram, Iván K. Chinn, Ender Karaca, Jaya Punetha, M. Cecilia Poli, Eric Boerwinkle, Chad A. Shaw, Jordan S. Orange, Richard A. Gibbs, Tuuli Lappalainen, James R. Lupski, Claudia M.B. Carvalho	2018	120
2	Whole-Exome Sequencing Identifies Homozygous GPR161 Mutation in a Family with Pituitary Stalk Interruption Syndrome The Journal of Clinical Endocrinology & Metabolism ·Ender Karaca, Ramazan Büyükkaya, Davut Pehli̇van, Wu‐Lin Charng, Kürşat Oğuz Yaykaşlı, Yavuz Bayram, Tomasz Gambin, Marjorie Withers, Mehmed M. Atik, İlknur Arslanoğlu, Semih Bolu, Serkan Erdin, Ayla Büyükkaya, Emine Yaykaşlı, Shalini N. Jhangiani, Donna M. Muzny, Richard A. Gibbs, James R. Lupski	2014	60
3	Phenotypic expansion illuminates multilocus pathogenic variation Genetics in Medicine ·Ender Karaca, Jennifer E. Posey, Zeynep Coban‐Akdemir, Davut Pehli̇van, Tamar Harel, Shalini N. Jhangiani, Yavuz Bayram, Xiaofei Song, Vahid Bahrambeigi, Özge Özalp Yüreğir, Sevcan Tuğ Bozdoğan, Gözde Yeşil, Sedat Işıkay, Donna M. Muzny, Richard A. Gibbs, James R. Lupski	2018	60
4	Whole-exome sequencing identifies novel homozygous mutation in NPAS2 in family with nonobstructive azoospermia Fertility and Sterility ·Ranjith Ramasamy, Emre Bakırcıoğlu, Cenk Cengiz, Ender Karaca, Jason M. Scovell, Shalini N. Jhangiani, Zeynep Coban‐Akdemir, Matthew N. Bainbridge, Yao Yu, Chad D. Huff, Richard A. Gibbs, James R. Lupski, Dolores J. Lamb	2015	49
5	Metabolic, Biochemical and Psychiatric Alterations in Healthy Subjects During Ramadan Pakistan Journal of Nutrition ·Yavuz Furuncuoğlu, Ender Karaca, Şükrü Aras, Arif Yönem	2007	48
6	Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome American Journal of Medical Genetics Part A ·Ender Karaca, Özge Özalp Yüreğir, Sevcan Tuğ Bozdoğan, Hüseyin Aslan, Davut Pehli̇van, Shalini N. Jhangiani, Zeynep Coban‐Akdemir, Tomasz Gambin, Yavuz Bayram, Mehmed M. Atik, Serkan Erdin, Donna M. Muzny, Richard A. Gibbs, James R. Lupski	2015	38
7	Points to consider in the detection of germline structural variants using next-generation sequencing: A statement of the American College of Medical Genetics and Genomics (ACMG) Genetics in Medicine ·Gordana Raca, Caroline Astbury, Andrea Behlmann, Mauricio De Castro, Scott E. Hickey, Ender Karaca, Chelsea Lowther, Erin Rooney Riggs, Bryce A. Seifert, Erik C. Thorland, Joshua L. Deignan	2022	24
8	Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy Annals of Clinical and Translational Neurology ·Jaya Punetha, Ender Karaca, Alper Gezdirici, Ryan E. Lamont, Davut Pehli̇van, Dana Marafi, Juan Pablo Appendino, Jill V. Hunter, Zeynep Coban‐Akdemir, Jawid M. Fatih, Shalini N. Jhangiani, Richard A. Gibbs, A. Micheil Innes, Jennifer E. Posey, James R. Lupski	2019	20
9	Exome sequencing reveals homozygous TRIM2 mutation in a patient with early onset CMT and bilateral vocal cord paralysis Human Genetics ·Davut Pehli̇van, Zeynep Coban‐Akdemir, Ender Karaca, Yavuz Bayram, Shalini N. Jhangiani, Edibe Pembegül Yıldız, Donna M. Muzny, Kayıhan Uluç, Richard A. Gibbs, Nursel Elçioğlu, James R. Lupski, Tamar Harel	2015	17
10	Whole exome sequencing identifies three novel mutations in ANTXR1 in families with GAPO syndrome American Journal of Medical Genetics Part A ·Yavuz Bayram, Davut Pehli̇van, Ender Karaca, Tomasz Gambin, Shalini N. Jhangiani, Serkan Erdin, Claudia Gonzaga‐Jauregui, Wojciech Wiszniewski, Donna M. Muzny, Nursel Elçioğlu, Mahmut Selman Yıldırım, Banu Bozkurt, Ayşe Gül Zamanı, Eric Boerwinkle, Richard A. Gibbs, James R. Lupski	2014	17
11	Identification of a novel mutation in ZAP70 and prenatal diagnosis in a Turkish family with severe combined immunodeficiency disorder Gene ·Ender Karaca, Elif Karakoç-Aydıner, Ömer Faruk Bayrak, Sevgi Keleş, Serhat Sevli, Işıl Barlan, Adnan Yüksel, Talal A. Chatila, Mustafa Özen	2012	15
12	Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle‐opathies with Microcephaly, Dwarfism and Skeletal Abnormalities American Journal of Medical Genetics Part A ·Ender Karaca, Jennifer E. Posey, Bret L. Bostwick, Pengfei Liu, Alper Gezdirici, Gözde Yeşil, Zeynep Coban‐Akdemir, Yavuz Bayram, Frederike L. Harms, Peter Meinecke, Malik Alawi, Carlos A. Bacino, V. Reid Sutton, Fanny Kortüm, James R. Lupski	2019	14
13	Whole-exome sequencing links TMCO1 defect syndrome with cerebro-facio-thoracic dysplasia European Journal of Human Genetics ·Davut Pehli̇van, Ender Karaca, Hatip Aydın, Christine R. Beck, Tomasz Gambin, Donna M. Muzny, Bilgen Bilge Geçkinli, Ali̇ Karaman, Shalini N. Jhangiani, Richard A. Gibbs, James R. Lupski	2014	13
14	Exome sequencing identifies a homozygous C5orf42 variant in a Turkish kindred with oral‐facial‐digital syndrome type VI American Journal of Medical Genetics Part A ·Yavuz Bayram, Hatip Aydın, Tomasz Gambin, Zeynep Coban‐Akdemir, Mehmed M. Atik, Ender Karaca, Ali̇ Karaman, Davut Pehli̇van, Shalini N. Jhangiani, Richard A. Gibbs, James R. Lupski	2015	9
15	Fibular aplasia, tibial campomelia, and oligosyndactyly Clinical Dysmorphology ·Özlem Sezer, Ismet Gebesoglu, Bo Yuan, Ender Karaca, Erkan Gökçe, Sezgin Güneş	2014	8
16	Circumferential skin folds and multiple anomalies Clinical Dysmorphology ·Hakan Ulucan, Erkan Koparir, Asuman Koparır, Ender Karaca, Ramazan Emre, Alper Gezdirici, Elif Yosunkaya, Mehmet Seven, Mustafa Özen, Adnan Yüksel	2013	7
17	Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, and Facial Dysmorphism in a Case of Lowe Syndrome with Novel OCRL1 Gene Mutation Journal of Child Neurology ·Adnan Yüksel, Ender Karaca, Sait Albayram	2009	7
18	MicroRNA profiling in lymphocytes and serum of tyrosinemia type-I patients Molecular Biology Reports ·Ömer Faruk Karataş, Esra Güzel, Ender Karaca, Serhat Sevli, Erdoğan Soyuçen, Adnan Yüksel, Mustafa Özen	2013	6
19	Cleidocranial dysplasia with new additional findings. PubMed ·Özgür Çoğulu, D Munanoglu, Ender Karaca, Hüseyin Önay, Ferda Özkınay	2004	3
20	TWINS WITH KLEEFSTRA SYNDROME DUE TO CHROMOSOME 9q34.3 MICRODELETION. PubMed ·Tahir Atık, Ender Karaca, E Ozkinay, Özgür Çoğulu	2015	3

About Ender Karaca

Ender Karaca is a scholar working on Genetics, Developmental Biology, Cancer Research, Cellular and Molecular Neuroscience and Pediatrics, Perinatology and Child Health, having authored 25 papers that have together received 544 indexed citations. Recurring topics across this work include Genomics and Rare Diseases (6 papers), Genomic variations and chromosomal abnormalities (6 papers), Connective tissue disorders research (2 papers), Hedgehog Signaling Pathway Studies (2 papers), Prenatal Screening and Diagnostics (2 papers), Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities (2 papers), Genetic Neurodegenerative Diseases (2 papers) and Genetic Syndromes and Imprinting (2 papers). The work is most often cited by research in Genetics (247 citations), Developmental Biology (12 citations), Reproductive Medicine (40 citations), Molecular Biology (265 citations) and Endocrinology, Diabetes and Metabolism (63 citations). Ender Karaca has collaborated with scholars based in Türkiye, United States and Chile. Frequent co-authors include James R. Lupski, Richard A. Gibbs, Shalini N. Jhangiani, Yavuz Bayram, Zeynep Coban‐Akdemir, Davut Pehli̇van, Tomasz Gambin, Arif Yönem, Yavuz Furuncuoğlu and Xiaofei Song. Their work appears in journals such as Genetics in Medicine, Gene, European Journal of Human Genetics, Human Genetics and Pediatric Neurology.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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