Michael Kwint

3.4k total citations
19 papers, 813 citations indexed

About

Michael Kwint is a scholar working on Molecular Biology, Genetics and Pathology and Forensic Medicine. According to data from OpenAlex, Michael Kwint has authored 19 papers receiving a total of 813 indexed citations (citations by other indexed papers that have themselves been cited), including 12 papers in Molecular Biology, 7 papers in Genetics and 3 papers in Pathology and Forensic Medicine. Recurrent topics in Michael Kwint's work include Genomics and Rare Diseases (5 papers), Retinal Development and Disorders (5 papers) and Genomics and Phylogenetic Studies (4 papers). Michael Kwint is often cited by papers focused on Genomics and Rare Diseases (5 papers), Retinal Development and Disorders (5 papers) and Genomics and Phylogenetic Studies (4 papers). Michael Kwint collaborates with scholars based in Netherlands, United States and Italy. Michael Kwint's co-authors include Joris A. Veltman, Kornelia Neveling, Mike S. M. Jetten, Bas E. Dutilh, Huub J. M. Op den Camp, Christian Gilissen, Lisenka E.L.M. Vissers, Arjen R. Mensenkamp, Hicham Ouchene and Marjolijn J. L. Ligtenberg and has published in prestigious journals such as Nucleic Acids Research, SHILAP Revista de lepidopterología and Gastroenterology.

In The Last Decade

Michael Kwint

17 papers receiving 809 citations

Peers

Countries citing papers authored by Michael Kwint

Since Specialization

Citations

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

Fields of papers citing papers by Michael Kwint

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authorship network of co-authors of Michael Kwint

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

All Works

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19 of 19 papers shown

#	Work	Indexed citations
1	Targeted long-read cDNA sequencing reveals novel splice-altering pathogenic variants causing retinal dystrophies 2025 ·Human Genetics and Genomics Advances ·(unknown), (unknown), Gavin Arno, Michael Kwint, (unknown), (unknown), Marianthi Karali, (unknown), Sabrina Signorini, (unknown), Frans P.M. Cremers, Sandro Banfi, Susanne Roosing, (unknown), Suzanne E. de Bruijn	0
2	Deciphering the largest disease-associated transcript isoforms in the human neural retina with advanced long-read sequencing approaches 2025 ·Genome Research ·(unknown), (unknown), (unknown), (unknown), Michael Kwint, Jaap Oostrik, (unknown), Barbara Ferrari, Stefano Ferrari, (unknown), (unknown), Suzanne E. de Bruijn, Hannie Kremer, Susanne Roosing, Frauke Coppieters, Alexander Hoischen, Frans P.M. Cremers, Peter A.C. ’t Hoen, Erwin van Wijk, Erik de Vrieze	0
3	Uncovering recessive alleles in rare Mendelian disorders by genome sequencing of 174 individuals with monoallelic pathogenic variants 2024 ·European Journal of Human Genetics ·(unknown), Maartje Pennings, (unknown), Michael Kwint, Jeroen van Reeuwijk, Jordi Corominas Galbany, Ronald van Beek, Eveline J. Kamping, (unknown), Erik‐Jan Kamsteeg, Lonneke Haer‐Wigman, (unknown), Susanne Roosing, Christian Gilissen, Hannie Kremer, Han G. Brunner, Helger G. Yntema, Lisenka E.L.M. Vissers	1
4	Comprehensive de novo mutation discovery with HiFi long-read sequencing 2023 ·Genome Medicine ·(unknown), (unknown), (unknown), Michael Kwint, Ronny Derks, Aaron M. Wenger, Christine Lambert, Shreyasee Chakraborty, Primo Baybayan, William J. Rowell, Han G. Brunner, Lisenka E.L.M. Vissers, Alexander Hoischen, Christian Gilissen	18
5	Long-Read Sequencing Identifies Novel Pathogenic Intronic Variants in Gitelman Syndrome 2022 ·Journal of the American Society of Nephrology ·Daan H.H.M. Viering, Marguerite Hureaux, Kornelia Neveling, (unknown), Michael Kwint, Anne Blanchard, Martin Konrad, René J.M. Bindels, Karl P. Schlingmann, Rosa Vargas‐Poussou, Jeroen H. F. de Baaij	14
6	DeNovoCNN: a deep learning approach to de novo variant calling in next generation sequencing data 2022 ·Nucleic Acids Research ·(unknown), Karolis Šablauskas, (unknown), Wouter Steyaert, Michael Kwint, Dmitrijs Rots, Max Hinne, Marcel van Gerven, Helger G. Yntema, Lisenka E.L.M. Vissers, Christian Gilissen	11
7	The Predicted Splicing Variant c.11+5G>A in RPE65 Leads to a Reduction in mRNA Expression in a Cell-Specific Manner 2022 ·Cells ·(unknown), Lonneke Duijkers, (unknown), (unknown), (unknown), (unknown), (unknown), Michael Kwint, (unknown), (unknown), Hester Y. Kroes, Christian Gilissen, Frans P.M. Cremers, Rob W.J. Collin, Susanne Roosing, Alejandro Garanto	8
8	Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65 2022 ·Stem Cell Research ·(unknown), Michael Kwint, Hester Y. Kroes, Sílvia Albert, (unknown), Christian Gilissen, Frans P.M. Cremers, Rob W.J. Collin, Susanne Roosing, Alejandro Garanto	1
9	Optical genome mapping identifies a germline retrotransposon insertion in SMARCB1 in two siblings with atypical teratoid rhabdoid tumors 2021 ·The Journal of Pathology ·Mariangela Sabatella, Tuomo Mantere, Esmé Waanders, Kornelia Neveling, Arjen R. Mensenkamp, Freerk van Dijk, Jayne Y. Hehir‐Kwa, (unknown), Michael Kwint, (unknown), (unknown), Corrie Gidding, Maarten H. Lequin, Benno Küsters, Pieter Wesseling, Marcel Nelen, (unknown), Alexander Hoischen, Marjolijn C.J. Jongmans, Roland P. Kuiper	28
10	Long-read technologies identify a hidden inverted duplication in a family with choroideremia 2021 ·SHILAP Revista de lepidopterología ·(unknown), Kornelia Neveling, Tuomo Mantere, Ronny Derks, Lonneke Haer‐Wigman, (unknown), Michael Kwint, (unknown), (unknown), Carel B. Hoyng, Christian Gilissen, Lisenka E.L.M. Vissers, Marcel Nelen, Frans P.M. Cremers, Alexander Hoischen, Susanne Roosing	13
11	Correction: Long-read trio sequencing of individuals with unsolved intellectual disability 2021 ·European Journal of Human Genetics ·Marc Pauper, (unknown), Aaron M. Wenger, Shreyasee Chakraborty, Primo Baybayan, Michael Kwint, (unknown), Marcel Nelen, Ronny Derks, Han G. Brunner, Alexander Hoischen, Lisenka E.L.M. Vissers, Christian Gilissen	5
12	Long-read trio sequencing of individuals with unsolved intellectual disability 2020 ·European Journal of Human Genetics ·Marc Pauper, (unknown), Aaron M. Wenger, Shreyasee Chakraborty, Primo Baybayan, Michael Kwint, (unknown), Marcel Nelen, Ronny Derks, Han G. Brunner, Alexander Hoischen, Lisenka E.L.M. Vissers, Christian Gilissen	24
13	Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis 2018 ·The American Journal of Human Genetics ·David Coman, Lisenka E.L.M. Vissers, Lisa G. Riley, Michael Kwint, (unknown), Janet Koster, Sinje Geuer, Sarah Hopkins, (unknown), (unknown), Udo F. H. Engelke, T. Burrow, John Cardinal, James McGill, (unknown), (unknown), Hans R. Waterham, John Christodoulou, Ron A. Wevers, James Pitt	23
14	Upstream SLC2A1 translation initiation causes GLUT1 deficiency syndrome 2017 ·European Journal of Human Genetics ·Michèl A.A.P. Willemsen, Lisenka E.L.M. Vissers, Marcel M. Verbeek, Bregje W.M. van Bon, Sinje Geuer, Christian Gilissen, Joerg Klepper, Michael Kwint, Wilhelmina G. Leen, Maartje Pennings, Ron A. Wevers, Joris A. Veltman, Erik‐Jan Kamsteeg	19
15	Post-zygotic Point Mutations Are an Underrecognized Source of De Novo Genomic Variation 2015 ·The American Journal of Human Genetics ·Rocío Acuña‐Hidalgo, (unknown), Michael Kwint, Maartje van de Vorst, Michele Pinelli, Joris A. Veltman, Alexander Hoischen, Lisenka E.L.M. Vissers, Christian Gilissen	152
16	Somatic Mutations in MLH1 and MSH2 Are a Frequent Cause of Mismatch-Repair Deficiency in Lynch Syndrome-Like Tumors 2013 ·Gastroenterology ·Arjen R. Mensenkamp, Ingrid P. Vogelaar, Wendy A.G. van Zelst–Stams, Monique Goossens, Hicham Ouchene, (unknown), Michael Kwint, Nicoline Hoogerbrugge, Irıs D. Nagtegaal, Marjolijn J. L. Ligtenberg	230
17	Targeted Next Generation Sequencing Reveals a Novel Intragenic Deletion of the TPO Gene in a Family with Intellectual Disability 2012 ·Archives of Medical Research ·Zafar Iqbal, Kornelia Neveling, (unknown), Mohsin Shahzad, Muhammad Yasir Zahoor, Muhammad Qasim, Christian Gilissen, Nienke Wieskamp, Michael Kwint, Sabine Gijsen, Arjan P.M. de Brouwer, Joris A. Veltman, Sheikh Riazuddin, Hans van Bokhoven	10
18	Ultra‐deep pyrosequencing of pmoA amplicons confirms the prevalence of Methylomonas and Methylocystis in Sphagnum mosses from a Dutch peat bog 2011 ·Environmental Microbiology Reports ·Nardy Kip, Bas E. Dutilh, Yao Pan, Levente Bodrossy, Kornelia Neveling, Michael Kwint, Mike S. M. Jetten, Huub J. M. Op den Camp	52
19	Pyrosequencing of 16S rRNA gene amplicons to study the microbiota in the gastrointestinal tract of carp (Cyprinus carpio L.) 2011 ·AMB Express ·Maartje A. H. J. van Kessel, Bas E. Dutilh, Kornelia Neveling, Michael Kwint, Joris A. Veltman, Gert Flik, Mike S. M. Jetten, Peter H.M. Klaren, Huub J. M. Op den Camp	204

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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