Pascal Joset

3.1k total citations
26 papers, 640 citations indexed

About

Pascal Joset is a scholar working on Molecular Biology, Genetics and Pediatrics, Perinatology and Child Health. According to data from OpenAlex, Pascal Joset has authored 26 papers receiving a total of 640 indexed citations (citations by other indexed papers that have themselves been cited), including 15 papers in Molecular Biology, 15 papers in Genetics and 4 papers in Pediatrics, Perinatology and Child Health. Recurrent topics in Pascal Joset's work include Genomics and Rare Diseases (6 papers), Congenital heart defects research (5 papers) and Genetics and Neurodevelopmental Disorders (4 papers). Pascal Joset is often cited by papers focused on Genomics and Rare Diseases (6 papers), Congenital heart defects research (5 papers) and Genetics and Neurodevelopmental Disorders (4 papers). Pascal Joset collaborates with scholars based in Switzerland, Germany and United Kingdom. Pascal Joset's co-authors include Esther T. Stoeckli, Anita Rauch, Vladimír Pekařík, Nicola Miglino, Dimitrios Bourikas, Katharina Steindl, Heinrich Sticht, Alessandra Baumer, Sorina Mihaela Papuc and Lisa M. Crowther and has published in prestigious journals such as Nature Biotechnology, PLoS ONE and The American Journal of Human Genetics.

In The Last Decade

Pascal Joset

26 papers receiving 632 citations

Peers — A (Enhanced Table)

Peers by citation overlap · career bar shows stage (early→late) cites · hero ref

Name h Career Trend Papers Cites
Pascal Joset Switzerland 14 412 245 78 62 61 26 640
Nathalie Van der Aa Belgium 19 412 1.0× 388 1.6× 84 1.1× 43 0.7× 89 1.5× 26 809
Markus Zweier Switzerland 12 582 1.4× 547 2.2× 80 1.0× 40 0.6× 50 0.8× 23 937
Piotr Stawiński Poland 15 514 1.2× 203 0.8× 77 1.0× 119 1.9× 76 1.2× 58 782
Maja Hempel Germany 19 511 1.2× 342 1.4× 90 1.2× 112 1.8× 68 1.1× 58 855
Katharina Steindl Switzerland 18 411 1.0× 323 1.3× 49 0.6× 38 0.6× 52 0.9× 50 698
Imen Dorboz France 14 492 1.2× 94 0.4× 59 0.8× 50 0.8× 67 1.1× 30 650
Monika Cohen Germany 11 551 1.3× 488 2.0× 113 1.4× 19 0.3× 55 0.9× 13 859
Gerarda Cappuccio Italy 15 348 0.8× 287 1.2× 48 0.6× 73 1.2× 47 0.8× 59 611
Sigrid Fuchs Germany 16 584 1.4× 148 0.6× 168 2.2× 76 1.2× 69 1.1× 35 790
Shino Shimada Japan 15 315 0.8× 318 1.3× 68 0.9× 33 0.5× 23 0.4× 36 545

Countries citing papers authored by Pascal Joset

Since Specialization
Citations

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

Fields of papers citing papers by Pascal Joset

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Pascal Joset

This figure shows the co-authorship network connecting the top 25 collaborators of Pascal Joset. A scholar is included among the top collaborators of Pascal Joset 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 Pascal Joset. Pascal Joset is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

20 of 20 papers shown
1.
Zanoni, Paolo, Katharina Steindl, Heinrich Sticht, et al.. (2023). The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort. European Journal of Human Genetics. 31(7). 784–792. 6 indexed citations
2.
Ivanovski, Ivan, Anaïs Begemann, Katharina Steindl, et al.. (2023). The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies. Molecular Genetics & Genomic Medicine. 11(5). e2148–e2148. 10 indexed citations
3.
Joset, Pascal, et al.. (2022). Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies. European Journal of Human Genetics. 31(8). 953–961. 6 indexed citations
4.
Steindl, Katharina, Pascal Joset, Alessandra Baumer, et al.. (2021). Confirmation of Ogden syndrome as an X‐linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature. American Journal of Medical Genetics Part A. 185(8). 2546–2560. 11 indexed citations
5.
Joset, Pascal, Anja Heinze, Julia Hentschel, et al.. (2021). Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy. European Journal of Human Genetics. 29(5). 808–815. 8 indexed citations
6.
Joset, Pascal, Anja Heinze, Julia Hentschel, et al.. (2021). Correction: Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy. European Journal of Human Genetics. 29(5). 887–887. 2 indexed citations
7.
Lang, Elena, Samuel Koller, James V. M. Hanson, et al.. (2020). Genotype–phenotype spectrum in isolated and syndromic nanophthalmos. Acta Ophthalmologica. 99(4). e594–e607. 19 indexed citations
8.
Oneda, Beatrice, Pietro Sirleto, Rosa Baldinger, et al.. (2020). Genome-wide non-invasive prenatal testing in single- and multiple-pregnancies at any risk: Identification of maternal polymorphisms to reduce the number of unnecessary invasive confirmation testing. European Journal of Obstetrics & Gynecology and Reproductive Biology. 252. 19–29. 9 indexed citations
9.
Meinecke, Peter, Iris Marquardt, Malik Alawi, et al.. (2020). Bi-allelic Pathogenic Variants in HS2ST1 Cause a Syndrome Characterized by Developmental Delay and Corpus Callosum, Skeletal, and Renal Abnormalities. The American Journal of Human Genetics. 107(6). 1044–1061. 14 indexed citations
10.
Hiatt, Susan M., Michelle L. Thompson, Jeremy W. Prokop, et al.. (2019). Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. The American Journal of Human Genetics. 104(4). 701–708. 15 indexed citations
11.
Konrad, Daniel, et al.. (2019). A novel GATA6 variant in a boy with neonatal diabetes and diaphragmatic hernia: a familial case with a review of the literature. Journal of Pediatric Endocrinology and Metabolism. 32(9). 1027–1030. 6 indexed citations
12.
Azzarello‐Burri, Silvia, Katharina Steindl, Markus Zweier, et al.. (2019). Prevalence of genetic susceptibility for breast and ovarian cancer in a non-cancer related study population: secondary germline findings from a Swiss single centre cohort. Swiss Medical Weekly. 149(3334). w20092–w20092. 5 indexed citations
13.
Abela, Lucia, Ronen Spiegel, Lisa M. Crowther, et al.. (2017). Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency. PLoS ONE. 12(5). e0176363–e0176363. 34 indexed citations
14.
Reuter, Miriam S., Angelika Rieß, Ute Moog, et al.. (2016). FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum. Journal of Medical Genetics. 54(1). 64–72. 56 indexed citations
15.
Abela, Lucia, Katharina Steindl, Bernhard Schmitt, et al.. (2015). N8‐acetylspermidine as a potential plasma biomarker for Snyder‐Robinson syndrome identified by clinical metabolomics. Journal of Inherited Metabolic Disease. 39(1). 131–137. 26 indexed citations
16.
Fauth, Christine, Katharina Steindl, Annick Toutain, et al.. (2015). A recurrent germline mutation in the PIGA gene causes Simpson‐Golabi‐Behmel syndrome type 2. American Journal of Medical Genetics Part A. 170(2). 392–402. 30 indexed citations
17.
Rosin, Nicole L., Nursel Elçioğlu, Filippo Beleggia, et al.. (2015). Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability. Human Molecular Genetics. 24(13). 3708–17. 25 indexed citations
18.
Asadollahi, Reza, Beatrice Oneda, Frenny Sheth, et al.. (2013). Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability. European Journal of Human Genetics. 21(10). 1100–1104. 47 indexed citations
19.
Joset, Pascal, et al.. (2011). Rostral growth of commissural axons requires the cell adhesion molecule MDGA2. Neural Development. 6(1). 22–22. 28 indexed citations
20.
Pekařík, Vladimír, et al.. (2002). Screening for gene function in chicken embryo using RNAi and electroporation. Nature Biotechnology. 21(1). 93–96. 160 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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