Pascal Joset

3.1k citations

26 papers · 640 indexed · h-index 14

Impact in

Clinical Biochemistry top 10%
- Metabolism and Genetic Disorders
Genetics top 10%
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Animal Genetics and Reproduction

Papers in ⓘ

Genetics 15
- Genomics and Rare Diseases 6
- Genetics and Neurodevelopmental Disorders 4
- Ocular Disorders and Treatments 2
Clinical Biochemistry 2
- Metabolism and Genetic Disorders 2

Co-authors: Esther T. Stoeckli (2 shared papers)Anita Rauch (19 shared papers)Dimitrios Bourikas (1 shared paper)Vladimír Pekařík (1 shared paper)Nicola Miglino (1 shared paper)Katharina Steindl (18 shared papers)Heinrich Sticht (6 shared papers)Alessandra Baumer (6 shared papers)
Journals: European Journal of Human Genetics (5 papers)Journal of Medical Genetics (2 papers)The American Journal of Human Genetics (2 papers)Journal of Inherited Metabolic Disease (1 paper)Acta Ophthalmologica (1 paper)
Partner nations: Switzerland Germany United Kingdom

In The Last Decade

Pascal Joset

26 papers receiving 632 citations

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 26 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	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	160
2	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, Francesca Beccaria, Federico Zara, Lisa M. Crowther, Pascal Joset, Heinrich Sticht, Sorina Mihaela Papuc, Anita Rauch	2017	58
3	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 A. Briggs, Kate Chandler, Anita Rauch, Miriam Stampfer, Katharina Steindl, Dieter Gläser, Pascal Joset, (unknown), Mandy Krumbiegel, Harald Rabe, Uta Schulte-Mattler, Peter Bauer, Stefanie Beck‐Wödl, Jürgen Kohlhase, André Reis, Christiane Zweier	2016	56
4	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 Sheth, Silvia Azzarello‐Burri, Rosa Baldinger, Pascal Joset, Beatrice Latal, Walter Knirsch, Soaham Desai, Alessandra Baumer, Gunnar Houge, Joris Andrieux, Anita Rauch	2013	47
5	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, Anita Rauch, Barbara Plecko, Thomas L. Simmons	2017	34
6	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 Böhm, Alessandra Baumer, Oliver Maier, Johannes Zschocke, Rosanna Weksberg, Christian R. Marshall, Anita Rauch	2015	30
7	Rostral growth of commissural axons requires the cell adhesion molecule MDGA2 Neural Development ·Pascal Joset, Andrin Wacker, Régis Babey, Esther Ingold, Irwin Andermatt, Esther T. Stoeckli, Matthias Gesemann	2011	28
8	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 M. Rüegger, Raimund Kottke, Sandra P. Toelle, Noëmi Zweifel, Katharina Steindl, Pascal Joset, Markus Zweier, Aude‐Annick Suter, Laura Gogoll, Cordula Haas, Wolfgang Berger, Christina Gerth‐Kahlert	2021	27
9	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, Alessandra Baumer, Lisa M. Crowther, Déborah Mathis, Anita Rauch, Barbara Plecko	2015	26
10	Mutations in XRCC4 cause primary microcephaly, short stature and increased genomic instability Human Molecular Genetics ·Nicole L. Rosin, Nursel Elçioğlu, Filippo Beleggia, Pınar İşgüven, Janine Altmüller, Hölger Thiele, Katharina Steindl, Pascal Joset, Anita Rauch, Peter Nürnberg, Bernd Wollnik, Gökhan Yiğit	2015	25
11	A severe congenital myasthenic syndrome with “dropped head” caused by novel MUSK mutations Muscle & Nerve ·Miriam Liliana Giarrana, Pascal Joset, Heinrich Sticht, S. Robb, Katharina Steindl, Anita Rauch, Andrea Klein	2015	22
12	Genotype–phenotype spectrum in isolated and syndromic nanophthalmos Acta Ophthalmologica ·Elena Lang, Samuel Koller, David Atac, Oliver A. Pfäffli, James V. M. Hanson, Silke Feil, Luzy Bähr, Angela Bahr, Raimund Kottke, Pascal Joset, Katrin Fasler, Daniel Barthelmes, Katharina Steindl, Daniel Konrad, David‐Alexander Wille, Wolfgang Berger, Christina Gerth‐Kahlert	2020	19
13	Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder The American Journal of Human Genetics ·Susan M. Hiatt, Michelle L. Thompson, Jeremy W. Prokop, James M.J. Lawlor, Stacy W. Gray, E. Martina Bebin, Tuula Rinne, Marlies Kempers, Rolph Pfundt, Bregje W.M. van Bon, Cyril Mignot, Caroline Nava, Christel Depienne, Louisa Kalsner, Anita Rauch, Pascal Joset, Ruxandra Bachmann‐Gagescu, Ingrid M. Wentzensen, Kirsty McWalter, Gregory M. Cooper	2019	15
14	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 ·Pauline E. Schneeberger, Leonie von Elsner, Emma L. Barker, Peter Meinecke, Iris Marquardt, Malik Alawi, Katharina Steindl, Pascal Joset, Anita Rauch, Petra Zwijnenburg, Marjan M. Weiss, Catherine L.R. Merry, Kerstin Kutsche	2020	14
15	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 ·Laura Gogoll, Katharina Steindl, Pascal Joset, Markus Zweier, Alessandra Baumer, Christina Gerth‐Kahlert, B. Tutschek, Anita Rauch	2021	11
16	The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies Molecular Genetics & Genomic Medicine ·Anna Grether, Ivan Ivanovski, Martina Russo, Anaïs Begemann, Katharina Steindl, Lucia Abela, Michael Papik, Markus Zweier, Beatrice Oneda, Pascal Joset, Anita Rauch	2023	10
17	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 ·Beatrice Oneda, Pietro Sirleto, Rosa Baldinger, Malgorzata Taralczak, Pascal Joset, Markus Zweier, Dunja Niedrist, Silvia Azzarello‐Burri, Christian Britschgi, Christian Breymann, Nicole Ochsenbein‐Kölble, Tilo Burkhardt, Josef Wisser, Roland Zimmermann, Katharina Steindl, Anita Rauch	2020	9
18	Bi-allelic loss of function variants in SLC30A5 as cause of perinatal lethal cardiomyopathy European Journal of Human Genetics ·Johann Lieberwirth, Pascal Joset, Anja Heinze, Julia Hentschel, Anja Stein, Antonella Iannaccone, Katharina Steindl, Alma Kuechler, Rami Abou Jamra	2021	8
19	Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome Human Mutation ·Emilia Stellacci, Katharina Steindl, Pascal Joset, Laura Mercurio, Massimiliano Anselmi, Serena Cecchetti, Laura Gogoll, Markus Zweier, Annette Hackenberg, Gianfranco Bocchinfuso, Lorenzo Stella, Marco Tartaglia, Anita Rauch	2018	8
20	Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies European Journal of Human Genetics ·Ella Vintschger, Dennis Kraemer, Pascal Joset, Anselm H. C. Horn, Anita Rauch, Heinrich Sticht, Ruxandra Bachmann‐Gagescu	2022	6

About Pascal Joset

Pascal Joset is a scholar working on Genetics, Clinical Biochemistry, Developmental Neuroscience, Ophthalmology and Molecular Biology, having authored 26 papers that have together received 640 indexed citations. Recurring topics across this work include Genomics and Rare Diseases (6 papers), Congenital heart defects research (5 papers), Genetics and Neurodevelopmental Disorders (4 papers), Prenatal Screening and Diagnostics (3 papers), Metabolism and Genetic Disorders (2 papers), Cystic Fibrosis Research Advances (2 papers), Metabolomics and Mass Spectrometry Studies (2 papers) and Ocular Disorders and Treatments (2 papers). The work is most often cited by research in Clinical Biochemistry (62 citations), Genetics (245 citations), Developmental Neuroscience (33 citations), Molecular Biology (412 citations) and Cellular and Molecular Neuroscience (78 citations). Pascal Joset has collaborated with scholars based in Switzerland, Germany and United Kingdom. Frequent co-authors include Esther T. Stoeckli, Anita Rauch, Dimitrios Bourikas, Vladimír Pekařík, Nicola Miglino, Katharina Steindl, Heinrich Sticht, Alessandra Baumer, Sorina Mihaela Papuc and Markus Zweier. Their work appears in journals such as European Journal of Human Genetics, Journal of Medical Genetics, The American Journal of Human Genetics, Journal of Inherited Metabolic Disease and Acta Ophthalmologica.

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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