Estelle Colin

3.5k total citations
36 papers, 546 citations indexed

About

Estelle Colin is a scholar working on Genetics, Molecular Biology and Clinical Biochemistry. According to data from OpenAlex, Estelle Colin has authored 36 papers receiving a total of 546 indexed citations (citations by other indexed papers that have themselves been cited), including 24 papers in Genetics, 17 papers in Molecular Biology and 5 papers in Clinical Biochemistry. Recurrent topics in Estelle Colin's work include Genomics and Rare Diseases (9 papers), Genetics and Neurodevelopmental Disorders (8 papers) and Genomic variations and chromosomal abnormalities (6 papers). Estelle Colin is often cited by papers focused on Genomics and Rare Diseases (9 papers), Genetics and Neurodevelopmental Disorders (8 papers) and Genomic variations and chromosomal abnormalities (6 papers). Estelle Colin collaborates with scholars based in France, United States and Netherlands. Estelle Colin's co-authors include Dominique Bonneau, Carrie M Louie, David Goudenège, Deepti Trivedi, David Williams, Alban Ziegler, Céline Bris, Patrizia Amati‐Bonneau, Pascal Reynier and Guy Lenaers and has published in prestigious journals such as Journal of Neuroscience, Molecular and Cellular Biology and The Journal of Clinical Endocrinology & Metabolism.

In The Last Decade

Estelle Colin

35 papers receiving 531 citations

Peers

Estelle Colin

GENET

SURGE

PPCH

Gerarda Cappuccio Italy

Pagon Ra United States

Flavio Faletra Italy

Morad Khayat Israel

Gülen Eda Ütine Türkiye

Maja Hempel Germany

Nathalie Van der Aa Belgium

Amal Y. Kentab Saudi Arabia

Marion Gérard France

Damien Lederer Belgium

Gerarda Cappuccio Italy

Estelle Colin

348 ×1.1

287 ×1.2

GENET

62 ×0.7

SURGE

55 ×0.9

PPCH

47 ×0.8

Citations per year, relative to Estelle Colin Estelle Colin (= 1×) peers Gerarda Cappuccio

Countries citing papers authored by Estelle Colin

Since Specialization

Citations

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

Fields of papers citing papers by Estelle Colin

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Estelle Colin

This figure shows the co-authorship network connecting the top 25 collaborators of Estelle Colin. A scholar is included among the top collaborators of Estelle Colin based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Estelle Colin. Estelle Colin is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

Tusseau, Maud, Mélanie Eyries, Nicolas Chatron, et al.. (2024). Genome sequencing identify chromosome 9 inversions disrupting ENG in 2 unrelated HHT families. European Journal of Medical Genetics. 68. 104919–104919. 3 indexed citations

Takatsu, Hiroyuki, Yusuke Kosugi, Haruo Ogawa, et al.. (2024). De Novo Missense Variations of ATP8B2 Impair Its Phosphatidylcholine Flippase Activity. Molecular and Cellular Biology. 44(11). 473–488. 1 indexed citations

Malinge, Marie‐Claire, et al.. (2024). Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature. European Journal of Human Genetics. 32(12). 1590–1598. 3 indexed citations

Riquin, Élise, Magalie Barth, Estelle Colin, et al.. (2022). Neuropsychological Features of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series. Frontiers in Psychiatry. 13. 864445–864445.

Alsaif, Hessa S., Eissa Faqeih, Magalie Barth, et al.. (2021). ZNF668 deficiency causes a recognizable disorder of DNA damage repair. Human Genetics. 140(9). 1395–1401. 1 indexed citations

Riquin, Élise, Magalie Barth, Estelle Colin, et al.. (2021). Psychiatric Symptoms of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series. Frontiers in Psychiatry. 12. 685532–685532. 2 indexed citations

Taillandier, A., Estelle Colin, Anya Rothenbühler, et al.. (2021). Utility of genetic testing for prenatal presentations of hypophosphatasia. Molecular Genetics and Metabolism. 132(3). 198–203. 4 indexed citations

Chassaing, Nicolas, Consolato Sergi, Tania Attié‐Bitach, et al.. (2020). Re-focusing on Agnathia-Otocephaly complex. Clinical Oral Investigations. 25(3). 1353–1362. 3 indexed citations

Ziegler, Alban, Patricia I. Bader, Kirsty McWalter, et al.. (2019). Confirmation that variants in TTI2 are responsible for autosomal recessive intellectual disability. Clinical Genetics. 96(4). 354–358. 8 indexed citations

10.

Vuillaume, Marie‐Laure, Marie‐Pierre Moizard, Jean‐Luc Alessandri, et al.. (2018). Mutation update for theGPC3gene involved in Simpson-Golabi-Behmel syndrome and review of the literature. Human Mutation. 39(6). 790–805. 22 indexed citations

11.

Moortgat, Stéphanie, Damien Lederer, Marie Deprez, et al.. (2018). Expanding the phenotypic spectrum associated with OPHN1 mutations: Report of 17 individuals with intellectual disability but no cerebellar hypoplasia. European Journal of Medical Genetics. 61(8). 442–450. 8 indexed citations

12.

Bris, Céline, David Goudenège, Valérie Desquiret‐Dumas, et al.. (2018). Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing. Frontiers in Genetics. 9. 632–632. 46 indexed citations

13.

Scheidecker, Sophie, M. Köhler, Anne‐Lise Delezoide, et al.. (2016). Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature. American Journal of Medical Genetics Part A. 173(2). 479–486. 5 indexed citations

14.

Milh, Mathieu, Caroline Lacoste, Pierre Cacciagli, et al.. (2015). Variable clinical expression in patients with mosaicism for KCNQ2 mutations. American Journal of Medical Genetics Part A. 167(10). 2314–2318. 38 indexed citations

15.

Pasquier, Laurent, Mélanie Fradin, Dominique Martin‐Coignard, et al.. (2015). Karyotype is not dead (yet)!. European Journal of Medical Genetics. 59(1). 11–15. 31 indexed citations

16.

Ziegler, Alban, Agnès Guichet, Magalie Barth, et al.. (2014). Extensive Mongolian spots in 4p16.3 deletion (Wolf–Hirschhorn syndrome). Clinical Dysmorphology. 23(3). 109–110. 1 indexed citations

17.

Colin, Estelle, Manuèle Miné, Agnès Guichet, et al.. (2013). Fetal intracerebral hemorrhage and cataract: think COL4A1. Journal of Perinatology. 34(1). 75–77. 23 indexed citations

18.

Trivedi, Deepti, Estelle Colin, Carrie M Louie, & David Williams. (2012). Live-Cell Imaging Evidence for the Ciliary Transport of Rod Photoreceptor Opsin by Heterotrimeric Kinesin-2. Journal of Neuroscience. 32(31). 10587–10593. 56 indexed citations

19.

Colin, Estelle, Renaud Touraine, J.‐M. Levaillant, et al.. (2011). Binder phenotype in mothers affected with autoimmune disorders. The Journal of Maternal-Fetal & Neonatal Medicine. 25(8). 1413–1418. 11 indexed citations

20.

Krug, Pauline, Vincent Morinière, Sandrine Marlin, et al.. (2010). Mutation screening of the EYA1, SIX1, and SIX5 genes in a large cohort of patients harboring branchio-oto-renal syndrome calls into question the pathogenic role of SIX5 mutations. Human Mutation. 32(2). 183–190. 74 indexed citations

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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