Richard J. Sinke

7.8k citations

119 papers · 4.4k indexed · h-index 39

Cellular and Molecular Neuroscience top 1%
- Genetic Neurodegenerative Diseases 21
Genetics top 1%
- Genomic variations and chromosomal abnormalities 15
- Genomics and Rare Diseases 14
- Genetic Associations and Epidemiology 9
- Genetics and Neurodevelopmental Disorders 9
Neurology top 2%
Molecular Biology top 5%
- Mitochondrial Function and Pathology 17
Neurology top 5%
Surgery
- Testicular diseases and treatments 9
Plant Science
- Chromosomal and Genetic Variations 9

Co-authors: Bart P.C. van de Warrenburg Birgit Sikkema‐Raddatz Jan D.H. Jongbloed Dineke S. Verbeek Berry Kremer René S. Kahn Ad Geurts van Kessel P. Pearson
Cited by: Cellular and Molecular Neuroscience Genetics Neurology
Journals: Proceedings of the National Academy of Sciences (1 paper)Circulation (1 paper)The Journal of Cell Biology (1 paper)
Partner nations: Netherlands United States Germany

In The Last Decade

Richard J. Sinke

118 papers receiving 4.3k citations

Peers

Countries citing papers authored by Richard J. Sinke

Since Specialization

Citations

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

Fields of papers citing papers by Richard J. Sinke

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Richard J. Sinke. 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 Richard J. Sinke. The network helps show where Richard J. Sinke may publish in the future.

Co-authorship network

The 25 scholars most cited alongside Richard J. Sinke, 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 Richard J. Sinke Line = papers co-authored together Richard J. Sinke links everyone, so they are left out of the graph.

All Works

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20 of 20 papers shown

#	Work
1	Evolution of genome diagnostics in epidermolysis bullosa: Unveiling the power of next‐generation sequencing Journal of the European Academy of Dermatology and Venereology ·Rosalie Baardman,Henny H. Lemmink,V.K. Yenamandra,Sabrina Z Commandeur-Jan,M. Viel,Kevin Kooi,Gilles F.H. Diercks,Rowdy Meijer,Michel van Geel,Hans Scheffer,Richard J. Sinke,Birgit Sikkema‐Raddatz,Maria C. Bolling,Peter C. van den Akker	2024	4
2	Phenotypic expansion of EGP5-related Vici syndrome: 15 Dutch patients carrying a founder variant European Journal of Paediatric Neurology ·Fleur Vansenne,Johanna M. Fock,Irene Stolte‐Dijkstra,Linda C. Meiners,Marie‐José H. van den Boogaard,Bregje Jaeger,Ludolf G. Boven,Yvonne J. Vos,Richard J. Sinke,Dineke S. Verbeek	2022	3
3	Towards Next-Generation Sequencing (NGS)-Based Newborn Screening: A Technical Study to Prepare for the Challenges Ahead International Journal of Neonatal Screening ·Abigail Veldman,Mensiena B. G. Kiewiet,M. Rebecca Heiner‐Fokkema,Marcel Nelen,Richard J. Sinke,Birgit Sikkema‐Raddatz,Els Voorhoeve,Dineke Westra,Martijn E.T. Dollé,Peter C. J. I. Schielen,Francjan J. van Spronsen	2022	25
4	Rare functional missense variants in CACNA1H: What can we learn from Writer’s cramp? Molecular Brain ·Miaozhen Huang,Esther Nibbeling,Tjerk J. Lagrand,Ivana A. Souza,J Groen,María A. Gandini,Fang‐Xiong Zhang,Johannes H.T.M. Koelman,Noam Adir,Richard J. Sinke,Gerald W. Zamponi,Marina A.J. Tijssen,Dineke S. Verbeek	2021	3
5	Genetics, Lifestyle, and Low-Density Lipoprotein Cholesterol in Young and Apparently Healthy Women Circulation ·Jan-Willem Balder,Antoine Rimbert,Xiang Zhang,Martijn Viel,Roan Kanninga,Freerk van Dijk,Peter Lansberg,Richard J. Sinke,Jan Albert Kuivenhoven	2018	25
6	756 Generalized ichthyotic peeling skin syndrome due to FLG2 mutations Journal of Investigative Dermatology ·Maria C. Bolling,S. Jan,Anna M.G. Pasmooij,Henny H. Lemmink,Lude Franke,V.K. Yenamandra,Richard J. Sinke,Peter C. van den Akker,Marcel F. Jonkman	2018	1
7	Altered secondary structure of Dynorphin A associates with loss of opioid signalling and NMDA-mediated excitotoxicity in SCA23 Human Molecular Genetics ·Cleo J. L. M. Smeets,Justyna Zmorzyńska,Manuel N. Melo,Anita Stargardt,Colette T. Dooley,Georgy Bakalkin,Jay P. McLaughlin,Richard J. Sinke,‪Siewert J. Marrink,Eric A. Reits,Dineke S. Verbeek	2016	11
8	NIPTRIC: an online tool for clinical interpretation of non-invasive prenatal testing (NIPT) results Scientific Reports ·Birgit Sikkema‐Raddatz,Lennart Johansson,Eddy N. de Boer,Elles M. J. Boon,Ron F. Suijkerbuijk,Katelijne Bouman,Catia M. Bilardo,Morris A. Swertz,Martijn Dijkstra,Irene M. van Langen,Richard J. Sinke,Gerard J. te Meerman	2016	10
9	A novel homozygous insertion and review of published mutations in the NNT gene causing familial glucocorticoid deficiency (FGD) European Journal of Medical Genetics ·Omid Jazayeri,Xuanzhu Liu,Cleo C. van Diemen,Willie M. Bakker‐van Waarde,Birgit Sikkema‐Raddatz,Richard J. Sinke,Jianguo Zhang,Conny M.A. van Ravenswaaij‐Arts	2015	17
10	Titin gene mutations are common in families with both peripartum cardiomyopathy and dilated cardiomyopathy European Heart Journal ·Karin Y. van Spaendonck‐Zwarts,Anna Pósafalvi,Maarten P. van den Berg,Denise Hilfiker‐Kleiner,Ilse A. E. Bollen,Karen Sliwa,Mariëlle Alders,Rowida Almomani,Irene M. van Langen,Peter van der Meer,Richard J. Sinke,Jolanda van der Velden,Dirk J. van Veldhuisen,J. Peter van Tintelen,Jan D.H. Jongbloed	2014	126
11	Clinical and mutational characteristics of spinal muscular atrophy with respiratory distress type 1 in the Netherlands Neuromuscular Disorders ·Xenia Stalpers,Aad Verrips,Bwee Tien Poll‐The,Jan-Maarten Cobben,I. Snoeck,I.F.M. de Coo,Alice S. Brooks,Saskia Bulk,R. H. J. M. Gooskens,Annemarie Fock,Corien C. Verschuuren‐Bemelmans,Richard J. Sinke,Marjolein Visser,Henny H. Lemmink	2013	10
12	Herlitz junctional epidermolysis bullosa: diagnostic features, mutational profile, incidence and population carrier frequency in the Netherlands British Journal of Dermatology ·Wing Yan Yuen,Henny H. Lemmink,Krista K. van Dijk-Bos,Richard J. Sinke,Marcel F. Jonkman	2011	32
13	Do mood symptoms subdivide the schizophrenia phenotype? association of the GMP6A gene with a depression subgroup American Journal of Medical Genetics Part B Neuropsychiatric Genetics ·Marco P. Boks,Mechteld L.C. Hoogendoorn,Bart J. Jungerius,Steven C. Bakker,Iris E. Sommer,Richard J. Sinke,Roel A. Ophoff,René S. Kahn	2007	48
14	Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: Expanding the phenotype Movement Disorders ·Monique H.M. Vlak,Richard J. Sinke,Gwenda M. Rabelink,Berry Kremer,Bart P.C. van de Warrenburg	2006	40
15	High sibling correlation on methylphenidate response but no association with DAT1‐10R homozygosity in Dutch sibpairs with ADHD Journal of Child Psychology and Psychiatry ·Emma M. van der Meulen,Steven C. Bakker,David L. Pauls,Nicole Oteman,Cas Kruitwagen,P. Pearson,Richard J. Sinke,Jan K. Buitelaar	2005	30
16	Cerebellar hypoplasia, zonular cataract, and peripheral neuropathy in trisomy 17 mosaicism American Journal of Medical Genetics Part A ·Pauline Terhal,Ralph J. B. Sakkers,Ron Hochstenbach,K. Madan,Gwenda M. Rabelink,Richard J. Sinke,Jacques C. Giltay	2004	13
17	Intermediate CAG repeat lengths (53,54) for MJD/SCA3 are associated with an abnormal phenotype Annals of Neurology ·Nens van Alfen,Richard J. Sinke,Michael J. Zwarts,Anneke Gabreëls-Festen,Peter Praamstra,Berry Kremer,M.W.I.M. Horstink	2001	70
18	Towards the isolation of a human malignant extragonadal germ cell tumour‐associated breakpoint in chromosome 11q13 Apmis ·Richard J. Sinke,M. van Asseldonk,D. de Bruijn,JAN A. STRIJK,Gerard Merkx,D. Olde Weghuis,Bauke M. de Jong,J. Wolter Oosterhuis,Ad Geurts van Kessel	1998	4
19	Fine Mapping of the Human Renal Oncocytoma-Associated Translocation (5;11)(q35;q13) Breakpoint Cancer Genetics and Cytogenetics ·Richard J. Sinke,Trȳnie Dijkhuizen,Bert Janssen,Daniël Olde Weghuis,Gerard Merkx,Anke van den Berg,Ed Schuuring,Aurelia M. Meloni,Bauke M. de Jong,Ad Geurts van Kessel	1997	29
20	Molecular cytogenetics of human germ cell tumours European Urology ·Ad Geurts van Kessel,R.F. Suijkerbuijk,Richard J. Sinke,Leendert H. J. Looijenga,J.W. Oosterhuis,Bauke M. de Jong	1993	4

About Richard J. Sinke

Richard J. Sinke is a scholar working on Genetics, Cellular and Molecular Neuroscience and Cell Biology, having authored 119 papers that have together received 4.4k indexed citations. Recurring topics across this work include Genetic Neurodegenerative Diseases (21 papers), Mitochondrial Function and Pathology (17 papers), Genomic variations and chromosomal abnormalities (15 papers), Genomics and Rare Diseases (14 papers), Testicular diseases and treatments (9 papers), Chromosomal and Genetic Variations (9 papers), Genetic Associations and Epidemiology (9 papers) and Genetics and Neurodevelopmental Disorders (9 papers). The work is most often cited by research in Cellular and Molecular Neuroscience (1.2k citations), Genetics (1.2k citations) and Neurology (543 citations). Richard J. Sinke has collaborated with scholars based in Netherlands, United States and Germany. Frequent co-authors include Bart P.C. van de Warrenburg, Birgit Sikkema‐Raddatz, Jan D.H. Jongbloed, Dineke S. Verbeek, Berry Kremer, René S. Kahn, Ad Geurts van Kessel, P. Pearson, Mechteld L.C. Hoogendoorn and Corien C. Verschuuren‐Bemelmans. Their work appears in journals such as Proceedings of the National Academy of Sciences, Circulation and The Journal of Cell Biology.

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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