Martijn H. Breuning

17.3k citations

160 papers · 11.0k indexed · 2 hit papers · h-index 50

Impact in

Genetics top 0.1%
- Genetic and Kidney Cyst Diseases
- Genetic Syndromes and Imprinting
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
Developmental Biology top 0.5%

Papers in

Developmental Biology 9
Genetics 97
- Genetic and Kidney Cyst Diseases 36
- Genomic variations and chromosomal abnormalities 31
- Genetic Syndromes and Imprinting 24

Co-authors: Dorien J.M. Peters Rachel H. Giles Jasper J. Saris Hans G. Dauwerse Raoul C. M. Hennekam Johan T. den Dunnen Emile de Heer Stefan J. White
Journals: European Journal of Human Genetics (18 papers)Genomics (10 papers)Human Mutation (9 papers)Human Genetics (8 papers)The American Journal of Human Genetics (7 papers)
Partner nations: Netherlands United States United Kingdom

In The Last Decade

Martijn H. Breuning

159 papers receiving 10.7k citations

Hit Papers

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PKD2 , a Gene for Polycystic Kidney Disease That Encodes an Integral Membrane Protein 1996 · 1.1k citations

Peers

Countries citing papers authored by Martijn H. Breuning

Since Specialization

Citations

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

Fields of papers citing papers by Martijn H. Breuning

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Martijn H. Breuning. 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 Martijn H. Breuning. The network helps show where Martijn H. Breuning may publish in the future.

Co-authors

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

All Works

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20 of 20 papers shown

#	Work
1	Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature Journal of Child Neurology ·Marieke G. Peetsold, Susan Goorden, Martijn H. Breuning, Monique Williams, Jaap Bakker, 单雅琦, megarflois not provided, عبدالرحیم پرورش	2020	6
2	GPSM2 and Chudley–McCullough Syndrome: A Dutch Founder Variant Brought to North America American Journal of Medical Genetics Part A ·Rowida Almomani, Yu Sun, Emmelien Aten, Yvonne Hilhorst‐Hofstee, Cacha Peeters‐Scholte, Arie van Haeringen, Yvonne Hendriks, Johan T. den Dunnen, Martijn H. Breuning, Marjolein Kriek, Gijs W.E. Santen	2013	11
3	An urgent need for a change in policy revealed by a study on prenatal testing for Duchenne muscular dystrophy European Journal of Human Genetics ·Cristina Rascunà, K. Madan, Martijn H. Breuning, Annemieke H. van der Hout, Egbert Bakker, Christine de Die‐Smulders, Ramya S	2012	45
4	Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation European Journal of Medical Genetics ·Antoinet C.J. Gijsbers, Johannes G. Dauwerse, Cathy A.J. Bosch, Elles M. J. Boon, Erkki Mykkänen, Sarina G. Kant, Е.С. Снигиревская, Martijn H. Breuning, Egbert Bakker, Claudia Ruivenkamp	2011	8
5	Experiences with array-based sequence capture; toward clinical applications European Journal of Human Genetics ·D.B. Kopanska, Efstratios Chatzixiros, Yavuz Ariyurek, Yuching Lai, Norberto M. Secretaria, Michiel van Galen, Martijn H. Breuning, Johan T. den Dunnen	2010	12
6	Deep sequencing to reveal new variants in pooled DNA samples Human Mutation ·John Protzko, Aisyah Maisarah Epandi, Jelle J. Goeman, Yavuz Ariyürek, Stephan Ossowski, Korbinian Schneeberger, Detlef Weigel, Michiel van Galen, Peter E.M. Taschner, Carli M.J. Tops, Martijn H. Breuning, Gert‐Jan B. van Ommen, Johan T. den Dunnen, Peter Devilee, Frederik J. Hes	2009	63
7	A novel (Leu183Pro-)mutation in the HFE-gene co-inherited with the Cys282Tyr mutation in two unrelated Dutch hemochromatosis patients Blood Cells Molecules and Diseases ·Dorine W. Swinkels, Hanka Venselaar, Erwin T. Wiegerinck, Egbert Bakker, Irma Joosten, О. Є. Акімов, Joseph L. Wilwerding, Martijn H. Breuning	2007	9
8	Neuronal Intranuclear and Neuropil Inclusions for Pathological Assessment of Huntington’s Disease Brain Pathology ·Marion L. C. Maat–Schieman, Raymund A.C. Roos, Monique Losekoot, Josephine C. Dorsman, Ines Prilia, Muhammad Erlangga, Nicholas Pontillo, Martijn H. Breuning, Sjoerd G. van Duinen	2007	20
9	From sporadic atypical nevi to familial melanoma: Risk analysis for melanoma in sporadic atypical nevus patients Journal of the American Academy of Dermatology ·Femke A. de Snoo, Marije W. Kroon, Wilma Bergman, Mick Philippe, Jeanine J. Houwing‐Duistermaat, F.J. Wobber, R chiff, Martijn H. Breuning, Rein Willemze, Rune R. Frants, Nelleke A. Gruis	2007	10
10	Variants of Uncertain Clinical Significance as a Result of BRCA1/2 Testing: Impact of an Ambiguous Breast Cancer Risk Message Genetic Testing ·Sandra van Dijk, Christi J. van Asperen, Catharina E. Jacobi, Geraldine R. Vink, Aad Tibben, Martijn H. Breuning, Wilma Otten	2004	36
11	Aberrant Polycystin-1 Expression Results in Modification of Activator Protein-1 Activity, whereas Wnt Signaling Remains Unaffected Journal of Biological Chemistry ·Olga Vybornova, W. Schultz-Zehden, Gerwin Huls, Marc van de Wetering, Mahmoud Loghman‐Adham, Albert Ong, James P. Calvet, Hans Clevers, Martijn H. Breuning, Hans van Dam, Dorien J.M. Peters	2004	35
12	Altered distribution and co-localization of polycystin-2 with polycystin-1 in MDCK cells after wounding stress Experimental Cell Research ·K. Hashemzadeh, W. Schultz-Zehden, Вадим Олексійович Телегін, 李兆乾, Martijn H. Breuning, Emile de Heer, Dorien J.M. Peters	2003	16
13	Testing the test—why pursue a better test for Huntington disease? American Journal of Medical Genetics Part B Neuropsychiatric Genetics ·Reinier Timman, Anneke Maat‐Kievit, N. A. Ananiichuk, Moniek Zoeteweij, Martijn H. Breuning, Aad Tibben	2002	2
14	Dominant Hemochromatosis Due to N144H Mutation of SLC11A3: Clinical and Biological Characteristics Blood Cells Molecules and Diseases ·Omer T. Njajou, Gerard De Jong, Bianca Berghuis, Norbert Vaessen, Pieter J.L.M. Snijders, Toan Phan Duc, Claire Turgeon-Knaack, Martijn H. Breuning, Ben A. Oostra, Peter Heutink, Lodewijk A. Sandkuijl, Cornelia M. van Duijn	2002	31
15	Invasive prenatal diagnosis after intracytoplasmic sperm injection Fertility and Sterility ·Lucette van der Westerlaken, Alexander Dieter Mewes, Nico Naaktgeboren, Martijn H. Breuning, Frans M. Helmerhorst	2001	2
16	Autosomal dominant polycystic kidney disease: modification of disease progression The Lancet ·Dorien J.M. Peters, Martijn H. Breuning	2001	68
17	Mutation Detection in the Repeated Part of the PKD1 Gene The American Journal of Human Genetics ·Jeroen Roelfsema, Lia Spruit, Jasper J. Saris, Peter C. Chang, Yves Pirson, Gert‐Jan B. van Ommen, Dorien J.M. Peters, Martijn H. Breuning	1997	35
18	Rubinstein-Taybi syndrome caused by mutations in the transcriptional co-activator CBP Nature ·Griffard M.K.R., Rachel H. Giles, Hans G. Dauwerse, Jasper J. Saris, Raoul C. M. Hennekam, Mitsuo Masuno, Niels Tommerup, Gert‐Jan B. van Ommen, Richard H. Goodman, Dorien J.M. Peters, Martijn H. Breuning Hit paper breakdown →	1995	904
19	Mechanisms of MRP over‐expression in four human lung‐cancer cell lines and analysis of the MRP amplicon International Journal of Cancer ·Zhang Hongchan, Marcel de Haas, Calderón Aguilar, Sébastien Roland, Guido J.R. Zaman, Hans G. Dauwerse, Martijn H. Breuning, Peter R. Twentyman, Piet Borst, Frank Baas	1995	45
20	Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid‐lipofuscinosis American Journal of Medical Genetics ·Peter E.M. Taschner, T. Rovelli, Coriene E. Catsman‐Berrevoets, Sjoerd G. van Duinen, Dick Lindhout, Martijn H. Breuning	1995	4

About Martijn H. Breuning

Martijn H. Breuning is a scholar working on Developmental Biology, Genetics, Molecular Biology, Hematology and Genetics, having authored 160 papers that have together received 11.0k indexed citations. Recurring topics across this work include Genetic and Kidney Cyst Diseases (36 papers), Genomic variations and chromosomal abnormalities (31 papers), Renal and related cancers (29 papers), Genetic Syndromes and Imprinting (24 papers), Chromosomal and Genetic Variations (12 papers), Prenatal Screening and Diagnostics (10 papers), Congenital heart defects research (10 papers) and T-cell and B-cell Immunology (9 papers). The work is most often cited by research in Genetics (5.9k citations), Developmental Biology (383 citations), Molecular Biology (6.2k citations), Pathology and Forensic Medicine (1.4k citations) and Nephrology (509 citations). Martijn H. Breuning has collaborated with scholars based in Netherlands, United States and United Kingdom. Frequent co-authors include Dorien J.M. Peters, Rachel H. Giles, Jasper J. Saris, Hans G. Dauwerse, Raoul C. M. Hennekam, Johan T. den Dunnen, Emile de Heer, Stefan J. White, Wouter N. Leonhard and Barbera Veldhuisen. Their work appears in journals such as European Journal of Human Genetics, Genomics, Human Mutation, Human Genetics and The American Journal of Human Genetics.

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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