Nursel Elçioğlu

6.2k citations

70 papers · 2.0k indexed · 1 hit paper · h-index 19

Genetics top 1%
- Connective tissue disorders research 12
- Genomics and Rare Diseases 7
- Ocular Disorders and Treatments 5
- Craniofacial Disorders and Treatments 5
Developmental Biology top 5%
- Congenital limb and hand anomalies 5
Molecular Biology top 10%
- RNA modifications and cancer 5
- Hedgehog Signaling Pathway Studies 4
Cell Biology top 10%
Rheumatology top 10%
Physiology
- Lysosomal Storage Disorders Research 4

Co-authors: Philip L. Beales Adrian S. Woolf D. S. Parker Frances Flinter C. Michael Hall Christine M Hall Beyhan Tüysüz Beat Steinmann
Cited by: Genetics Developmental Biology Molecular Biology
Partner nations: Türkiye Cyprus United States

In The Last Decade

Nursel Elçioğlu

66 papers receiving 2.0k citations

Hit Papers

align trajectories log scale

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

1999 New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey

Peers

Countries citing papers authored by Nursel Elçioğlu

Since Specialization

Citations

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

Fields of papers citing papers by Nursel Elçioğlu

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network

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

All Works

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20 of 20 papers shown

#	Work
1	Clinical and molecular results in 15 Turkish patients with Wiedemann-Steiner syndrome: identification of eight novel KMT2A variants and a case of dual molecular diagnosis in the CSNK2A1 Burcu Yeter,Yasemin Kendir Demirkol,Esra Usluer,Sümeyra Oğuz,Metin Eser,Murat Hakkı Yarar,Sezin Canbek,Batın Ilgıt Sezgin,Akçahan Akalın,Gökçen Karamık,Enise Avcı Durmuşalioğlu,Zeynep Ocak,Mutlu Karkucak,Nuray Öztürk,Funda Kökali,Şirin Sedef Baş,Sarp Özcan,(unknown),Ercan Mıhçı,Nursel Elçioğlu	2025	0
2	Clinical and molecular spectrum along with genotype–phenotype correlation of 25 patients diagnosed with 3 M syndrome: a study from Turkey Akçahan Akalın,Şervan Özalkak,Ruken Yıldırım,Amine Aktar Karakaya,Barış Kolbaşı,Enise Avcı Durmuşalioğlu,Funda Kökali,Gizem Ürel Demir,Veysel Öz,Edip Ünal,Tahir Atık,Pelin Özlem Şimşek‐Kiper,Nursel Elçioğlu	2024	1
3	Further defining the molecular spectrum and long‐term follow‐up of 17 patients with Dyggve–Melchior–Clausen and Smith–McCort dysplasia type 2 Akçahan Akalın,Ercan Ayaz,Merve Soğukpınar,Enise Avcı Durmuşalioğlu,Gizem Ürel Demir,Adalet Elçin Yıldız,Tahir Atık,Nursel Elçioğlu,Gülen Eda Ütine,Pelin Özlem Şimşek‐Kiper	2024	0
4	Clinical and Molecular Characterization of Mucopolysaccharidosis Type 3A and 3B in a Turkish Series Bilge Noyan,Nursel Elçioğlu,Abdellah Tebani,Soumeya Bekri	2024	1
5	HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data Haowei Du,Zain Dardas,Angad Jolly,Christopher M. Grochowski,Shalini N. Jhangiani,He Li,Donna M. Muzny,Jawid M. Fatih,Gözde Yeşil,Nursel Elçioğlu,Alper Gezdirici,Dana Marafi,Davut Pehli̇van,Daniel G. Calame,Claudia M.B. Carvalho,Jennifer E. Posey,Tomasz Gambin,Zeynep Coban‐Akdemir,James R. Lupski	2023	2
6	Phenotypic spectrum of BLM ‐ and RMI1 ‐related Bloom syndrome Ipek Ilgin Gönenç,Nursel Elçioğlu,Carolina Martínez Grijalva,Seda Aras,Nadine Großmann,Inka Praulich,Janine Altmüller,Silke Kaulfuß,Yun Li,Peter Nürnberg,Peter Burfeind,Gökhan Yiğit,Bernd Wollnik	2022	8
7	MFSD2A-associated primary microcephaly - Expanding the clinical and mutational spectrum of this ultra-rare disease Katharina Khuller,Gökhan Yigit,Carolina Martínez Grijalva,Janine Altmüller,Hölger Thiele,Peter Nürnberg,Nursel Elçioğlu,Burcu Yeter,Ute Hehr,Anja Stein,Adela Della Marina,Angela Köninger,Christel Depienne,Frank J. Kaiser,Bernd Wollnik,Alma Kuechler	2021	6
8	Insights into Mutation Effect in Three Poikiloderma with Neutropenia Patients by Transcript Analysis and Disease Evolution of Reported Patients with the Same Pathogenic Variants Elisa Adele Colombo,Nursel Elçioğlu,Claudio Graziano,Pamela Farinelli,Elisabetta Di Fede,Iria Neri,Elena Facchini,Mariangela Greco,Cristina Gervasini,Lidia Larizza	2018	6
9	Novel EYA1 variants causing Branchio-oto-renal syndrome Kyle D. Klingbeil,Christopher M. Greenland,Selçuk Arslan,Arianne Llamos Paneque,Hakan Gürkan,Selma Demır,Reza Maroofian,Andrea Carrera-Gonzalez,Stefany Montufar-Armendariz,Rosario Paredes,Nursel Elçioğlu,Ibis Menéndez,Mahdiyeh Behnam,Joseph Foster,Shengru Guo,Sebastian Escarfuller,Filiz Başak Cengiz,Duygu Duman,Güney Bademci,Mustafa Tekin	2017	15
10	Novel and recurrent COL11A1 and COL2A1 mutations in the Marshall–Stickler syndrome spectrum Long Guo,Nursel Elçioğlu,Zheng Wang,Yasemin Kendir Demirkol,Pınar İşgüven,Naomichi Matsumoto,Gen Nishimura,Noriko Miyake,Shiro Ikegawa	2017	14
11	A role for repressive complexes and H3K9 di-methylation in PRDM5-associated brittle cornea syndrome Louise F. Porter,Giorgio Giacomo Galli,Sally Williamson,J. Selley,David Knight,Nursel Elçioğlu,Ali Aydın,Mustafa Nuri Elçioğlu,Hanka Venselaar,Anders H. Lund,R E Bonshek,Graeme C. Black,Forbes Manson	2015	16
12	Decreased subfoveal choroidal thickness and failure of emmetropisation in patients with oculocutaneous albinism Levent Karabaş,Fehim Esen,Hande Çeliker,Nursel Elçioğlu,Eren Çerman,Muhsin Eraslan,Haluk Kazokoğlu,Özlem Şahin	2014	10
13	Molecular Analysis of Turkish Maroteaux-Lamy Patients and Identification of One Novel Mutation in the Arylsulfatase B (ARSB) Gene Alessandra Zanetti,Neslihan Önenli Mungan,Nursel Elçioğlu,Mehmet Nuri Özbek,Deniz Kör,Elisabetta Lenzini,Maurizio Scarpa,Rosella Tomanin	2013	8
14	Spondylocheiro Dysplastic Form of the Ehlers-Danlos Syndrome—An Autosomal-Recessive Entity Caused by Mutations in the Zinc Transporter Gene SLC39A13 Cecilia Giunta,Nursel Elçioğlu,Beate Albrecht,Georg Eich,Céline Chambaz,Andreas Janecke,Heather N. Yeowell,MaryAnn Weis,David R. Eyre,Marius Kraenzlin,Beat Steinmann	2008	149
15	IFT80, which encodes a conserved intraflagellar transport protein, is mutated in Jeune asphyxiating thoracic dystrophy Philip L. Beales,Elizabeth Bland,Jonathan L. Tobin,Chiara Bacchelli,Beyhan Tüysüz,Josephine Hill,Suzanne Rix,Chad G. Pearson,Masatake Kai,Jane Hartley,Colin A. Johnson,Melita Irving,Nursel Elçioğlu,Mark Winey,Masazumi Tada,Peter Scambler	2007	227
16	Colobomatous macrophthalmia with microcornea syndrome maps to the 2p23‐p16 region Nursel Elçioğlu,Burcu Akin,Ebru Toker,Mustafa Nuri Elçioğlu,Ali Kaya,Timur Tunçalı,Bernd Wollnik,Stella Hornby,Nurten Akarsu	2007	3
17	Novel truncating and missense mutations of the KCC3 gene associated with Andermann syndrome G. Uyanık,Nursel Elçioğlu,Johannes Penzien,(unknown),Yasin Yılmaz,Akgün Ölmez,Ercan Demir,Dennis Wahl,K. Scheglmann,Beate Winner,Ulrich Bogdahn,Haluk Topaloğlu,Ute Hehr,Jürgen Winkler	2006	51
18	Neonatal Marfan syndrome caused by an exon 25 mutation of the fibrillin-1 gene. Nursel Elçioğlu,Figen Akalın,Mustafa Nuri Elçioğlu,Paolo Comeglio,Anne H. Child	2004	9
19	Genetic and Mutational Analyses of a Large Multiethnic Bardet-Biedl Cohort Reveal a Minor Involvement of BBS6 and Delineate the Critical Intervals of Other Loci Philip L. Beales,Nicholas Katsanis,Richard A. Lewis,Stephen J. Ansley,Nursel Elçioğlu,Jamal Raza,Michael O. Woods,Jane S. Green,Patrick S. Parfrey,William S. Davidson,James R. Lupski	2001	57
20	Case Report: Partial trisomy of 15q due to inserted inverted duplication Nursel Elçioğlu,Claudine Fear,Andrew C. Berry	1997	7

About Nursel Elçioğlu

Nursel Elçioğlu is a scholar working on Developmental Biology, Genetics and Molecular Biology, having authored 70 papers that have together received 2.0k indexed citations. Recurring topics across this work include Connective tissue disorders research (12 papers), Genomics and Rare Diseases (7 papers), Congenital limb and hand anomalies (5 papers), Ocular Disorders and Treatments (5 papers), RNA modifications and cancer (5 papers), Craniofacial Disorders and Treatments (5 papers), Lysosomal Storage Disorders Research (4 papers) and Hedgehog Signaling Pathway Studies (4 papers). The work is most often cited by research in Genetics (1.3k citations), Developmental Biology (77 citations) and Molecular Biology (1.2k citations). Nursel Elçioğlu has collaborated with scholars based in Türkiye, Cyprus and United States. Frequent co-authors include Philip L. Beales, Adrian S. Woolf, D. S. Parker, Frances Flinter, C. Michael Hall, Christine M Hall, Beyhan Tüysüz, Beat Steinmann, Masatake Kai and Céline Chambaz.

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