Pascal Joset

3.2k citations

59 papers · 2.3k · 1 hit paper · h-index 24

Impact in

Genetics top 2%
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
Molecular Biology top 10%
- Congenital heart defects research
- Epigenetics and DNA Methylation
- RNA modifications and cancer

Papers in

Genetics 32
- Genomics and Rare Diseases 17
- Genetics and Neurodevelopmental Disorders 14
- Genomic variations and chromosomal abnormalities 8
- Genetic and Kidney Cyst Diseases 4
Molecular Biology 31
- Congenital heart defects research 7
- Ubiquitin and proteasome pathways 5
- RNA modifications and cancer 4
- Genomics and Chromatin Dynamics 3

Co-authors: Anita M. Rauch (20 shared papers)Esther T. Stoeckli (2 shared papers)Nicola Miglino (1 shared paper)Vladimír Pekařík (1 shared paper)Dimitrios Bourikas (1 shared paper)Katharina Steindl (17 shared papers)Markus Zweier (10 shared papers)Heinrich Sticht (6 shared papers)
Journals: The American Journal of Human Genetics (10 papers)European Journal of Human Genetics (6 papers)Genetics in Medicine (6 papers)Journal of Medical Genetics (3 papers)Annals of Neurology (2 papers)
Partner nations: Switzerland Germany France

In The Last Decade

Pascal Joset

55 papers receiving 2.3k citations

Pascal Joset's Hit Papers

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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study 2012 · 841 citations

What are hit papers?

Paper score: A paper's citations measured against the top-1% bar of its own field and year: the square root of citations ÷ bar, so 1 means right at the bar and 2 means four times its citations. The bar blends the citation counts that enter the top 1% of the paper's subfields in its year (weighted 89.5%), of those subfields over all years (0.5%) and of its year across all fields (10%); a subfield and year with fewer than 400 papers takes its year's bar. Papers from 2026 are not scored yet: in an unfinished year, when a paper appeared matters more than how it is cited.

Hit paper: A paper cited at least 1.5× the top-1% bar of its field and year: a paper score of at least √1.5.

2012 The Lancet

Peers

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-authors

The 25 scholars most cited alongside Pascal Joset, 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 Pascal Joset Line = papers co-authored together Pascal Joset 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 59 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study The Lancet ·Anita M. Rauch, Dagmar Wieczorek, Elisabeth Graf, Thomas Wieland, Sabine U. Endele, Thomas Schwarzmayr, Beate Albrecht, Deborah Bartholdi Hit paper breakdown →	2012	841
2	Screening for gene function in chicken embryo using RNAi and electroporation Nature Biotechnology ·Vladimír Pekařík, Dimitrios Bourikas, Nicola Miglino, Pascal Joset, Stephan Preiswerk, Esther T. Stoeckli	2002	175
3	The clinical significance of small copy number variants in neurodevelopmental disorders Journal of Medical Genetics ·Reza Asadollahi, Beatrice Oneda, Pascal Joset, Silvia Miranda Azzarello-Burri, Deborah Bartholdi, Katharina Steindl, Marie Vincent, Joana Cobilanschi	2014	78
4	Confirmation of mutations in PROSC as a novel cause of vitamin B 6 -dependent epilepsy Journal of Medical Genetics ·Barbara Plecko, Markus Zweier, Anaïs Begemann, Déborah Mathis, Bernhard Schmitt, Pasquale Striano, Martina Baethmann, Maria Stella Vari	2017	68
5	Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly Genetics in Medicine ·Paranchai Boonsawat, Pascal Joset, Katharina Steindl, Beatrice Oneda, Laura Gogoll, Silvia Miranda Azzarello-Burri, Frenny J. Sheth, Chaitanya A. Datar	2019	64
6	FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum Journal of Medical Genetics ·Miriam S. Reuter, Angelika Rieß, Ute Moog, Tracy Ann Briggs, Kate Chandler, Anita M. Rauch, Miriam Stampfer, Katharina Steindl	2016	63
7	SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females The American Journal of Human Genetics ·Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi, Michael A. Levy, Andrés Hernández, Lucia Pedace, Francesca Pantaleoni, Zhandong Liu	2021	60
8	Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability European Journal of Human Genetics ·Reza Asadollahi, Beatrice Oneda, Frenny J. Sheth, Silvia Miranda Azzarello-Burri, Rosa Baldinger, Pascal Joset, Beatrix Latal, Walter Knirsch	2013	60
9	The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study European Journal of Human Genetics ·Sorina Mihaela Papuc, Lucia Abela, Katharina Steindl, Anaïs Begemann, Thomas Luke Simmons, Bernhard Schmitt, Markus Zweier, Beatrice Oneda	2018	57
10	Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling Biological Psychiatry ·Brett V. Johnson, Raman Kumar, Sabrina Oishi, Suzy Alexander, Maria A. Kasherman, Michelle Sanchez Vega, Atma M. Ivancevic, Alison E. Gardner	2019	53
11	Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome Molecular Psychiatry ·Joost Kummeling, Diante E. Stremmelaar, Nicholas Raun, Margot R.F. Reijnders, Marjolein H. Willemsen, Martina Ruiterkamp‐Versteeg, Marga T. Schepens, C Man	2020	50
12	Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency PLoS ONE ·Lucia Abela, Ronen Spiegel, Lisa M. Crowther, Andrea Klein, Katharina Steindl, Sorina Mihaela Papuc, Pascal Joset, Yoav Zehavi	2017	41
13	Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 Deletions The American Journal of Human Genetics ·Tiong Yang Tan, Claudia G. Gonzaga-Jauregui, Elizabeth J. K. Bhoj, Kevin A. Strauss, Karlla Welch Brigatti, Erik G. Puffenberger, Dong Li, Liqin Xie	2017	40
14	De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Callosum, Axon, Cardiac, Ocular, and Genital Defects The American Journal of Human Genetics ·Andrea Accogli, Sara Calabretta, Judith St‐Onge, Nassima Boudrahem‐Addour, Alexandre Dionne‐Laporte, Pascal Joset, Silvia Miranda Azzarello-Burri, Anita M. Rauch	2019	40
15	De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder The American Journal of Human Genetics ·Anne Gregor, Lynette Grant Sadleir, Reza Asadollahi, Silvia Miranda Azzarello-Burri, Agatino Battaglia, Lilian Bomme Ousager, Paranchai Boonsawat, Ange‐Line Bruel	2018	39
16	The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction Genetics in Medicine ·Lisa Lenaerts, Sara Reynhout, Iris Verbinnen, Frédéric Laumonnier, Annick Toutain, Frédérique Bonnet‐Brilhault, Yana Hoorne, Shelagh K. Joss	2020	38
17	A recurrent germline mutation in the PIGA gene causes Simpson‐Golabi‐Behmel syndrome type 2 American Journal of Medical Genetics Part A ·Christine Fauth, Katharina Steindl, Annick Toutain, Sandra A. Farrell, Martina Witsch‐Baumgartner, Daniela Karall, Pascal Joset, Sebastian W. Böhm	2015	35
18	Genetic Analysis in a Swiss Cohort of Bilateral Congenital Cataract JAMA Ophthalmology ·Delia Rechsteiner, Lydia S. Issler, Samuel Koller, Elena Lang, Luzy Bähr, Silke Feil, Christoph Martin Rüegger, Raimund Kottke	2021	34
19	Loss-of-function and missense variants in NSD2 cause decreased methylation activity and are associated with a distinct developmental phenotype Genetics in Medicine ·Paolo Zanoni, Katharina Steindl, Deepanwita Sengupta, Pascal Joset, Angela Bahr, Heinrich Sticht, Mariarosaria Lang‐Muritano, Conny M.A. van Ravenswaaij‐Arts	2021	33
20	N8‐acetylspermidine as a potential plasma biomarker for Snyder‐Robinson syndrome identified by clinical metabolomics Journal of Inherited Metabolic Disease ·Lucia Abela, Luke Simmons, Katharina Steindl, Bernhard Schmitt, Massimo Mastrangelo, Pascal Joset, Sorina Mihaela Papuc, Heinrich Sticht	2015	33

About Pascal Joset

Pascal Joset is a scholar working on Genetics, Molecular Biology, Pediatrics, Perinatology and Child Health, Rheumatology and Clinical Biochemistry, having authored 59 papers that have together received 2.3k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (17 papers), Genetics and Neurodevelopmental Disorders (14 papers), Genomic variations and chromosomal abnormalities (8 papers), Congenital heart defects research (7 papers), Ubiquitin and proteasome pathways (5 papers), RNA modifications and cancer (4 papers), Genetic and Kidney Cyst Diseases (4 papers) and Genomics and Chromatin Dynamics (3 papers). The work is most often cited by research in Genetics (1.3k citations), Molecular Biology (1.2k citations), Clinical Biochemistry (94 citations), Developmental Neuroscience (47 citations) and Cellular and Molecular Neuroscience (168 citations). Pascal Joset has collaborated with scholars based in Switzerland, Germany and France. Frequent co-authors include Anita M. Rauch, Esther T. Stoeckli, Nicola Miglino, Vladimír Pekařík, Dimitrios Bourikas, Katharina Steindl, Markus Zweier, Heinrich Sticht, Alessandra Baumer and Lisa M. Crowther. Their work appears in journals such as The American Journal of Human Genetics, European Journal of Human Genetics, Genetics in Medicine, Journal of Medical Genetics and Annals of 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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Pascal Joset

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Pascal Joset

Pascal Joset's Hit Papers

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Fields of papers citing papers by Pascal Joset

All Works

About Pascal Joset

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