Egbert Bakker

19.9k citations

271 papers · 16.0k · h-index 68

Impact in

Genetics top 0.2%
- Neurogenetic and Muscular Disorders Research
- Genomic variations and chromosomal abnormalities
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
Molecular Biology top 0.5%
- Muscle Physiology and Disorders
- RNA Research and Splicing

Papers in

Genetics 41
- Neurogenetic and Muscular Disorders Research 29
- Genomic variations and chromosomal abnormalities 26
- Genetics and Neurodevelopmental Disorders 21
Molecular Biology 144
- Muscle Physiology and Disorders 73

Co-authors: Peter Lees Pearson (26 shared papers)Johan T. den Dunnen (37 shared papers)Manuela Simoni (3 shared papers)G.J.B. van Ommen (22 shared papers)Ron G. Rosenfeld (6 shared papers)Christine Van Broeckhoven (9 shared papers)Csilla Gabriella Krausz (1 shared paper)Martin C. Wapenaar (6 shared papers)
Journals: Journal of Medical Genetics (20 papers)European Journal of Human Genetics (14 papers)Human Genetics (13 papers)Neuromuscular Disorders (11 papers)Human Mutation (11 papers)
Partner nations: Netherlands United States United Kingdom

In The Last Decade

Egbert Bakker

267 papers receiving 15.2k citations

Peers

Countries citing papers authored by Egbert Bakker

Since Specialization

Citations

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

Fields of papers citing papers by Egbert Bakker

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

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

Co-authors

The 25 scholars most cited alongside Egbert Bakker, 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 Egbert Bakker Line = papers co-authored together Egbert Bakker 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 271 papers — load more, or switch the sort, to bring in the rest.

#	Work
1	Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2 Nature Genetics ·Richard J.L.F. Lemmers, Rabi Tawil, Lisa M. Petek, Judit Balog, Gregory J. Block, Gijs W.E. Santen, Amanda M. Amell, Patrick J. van der Vliet	2012	506
2	Topography of the Duchenne muscular dystrophy (DMD) gene: FIGE and cDNA analysis of 194 cases reveals 115 deletions and 13 duplications. PubMed ·Johan T. den Dunnen, Petra M. Grootscholten, Egbert Bakker, Lau A.J. Blonden, H.B. Ginjaar, Martin C. Wapenaar, H M van Paassen, Christine Van Broeckhoven	1989	461
3	EAA/EMQN best practice guidelines for molecular diagnosis of y‐chromosomal microdeletions. State of the art 2004 International Journal of Andrology ·Manuela Simoni, Egbert Bakker, Csilla Gabriella Krausz	2004	410
4	Guidelines for diagnostic next-generation sequencing European Journal of Human Genetics ·GERT L. MATTHIJS, Erika L. Souche, Marielle M. Alders, Anniek Corveleyn, Sebastian H. Eck, Ilse Feenstra, Valérie Race, Erik A. Sistermans	2015	401
5	Amyloid β Protein Precursor Gene and Hereditary Cerebral Hemorrhage with Amyloidosis (Dutch) Science ·Christine Van Broeckhoven, J. Haan, Egbert Bakker, John Hardy, Wim Van Hul, Anita Wehnert, Maria Vegter-van der Vlis, R. A. C. Roos	1990	394
6	Genome-wide association study identifies three loci associated with melanoma risk Nature Genetics ·D. Timothy Bishop, Florence Démenais, Mark Martin Iles, Mark Harland, John Taylor, Eve Corda, Juliette A. Randerson‐Moor, Joanne F. Aitken	2009	377
7	BRCA1 genomic deletions are major founder mutations in Dutch breast cancer patients Nature Genetics ·Anne Petrij-Bosch, Tamara Peelen, Margreethe van Vliet, Ronald van Eijk, Renske Olmer, Marion Drüsedau, Frans B.L. Hogervorst, Sandra Hageman	1997	366
8	Clinical Findings with Implications for Genetic Testing in Families with Clustering of Colorectal Cancer New England Journal of Medicine ·Juul Wijnen, Hans F. A. Vasen, P. Meera Khan, Aeilko Having Zwinderman, Heleen van der Klift, Adri Mulder, Carli M.J. Tops, Pål Møller	1998	338
9	Population-based incidence and prevalence of facioscapulohumeral dystrophy Neurology ·Johanna C.W. Deenen, Hisse Arnts, Silvère M. van der Maarel, George W. Padberg, Jan J.G.M. Verschuuren, Egbert Bakker, Stephanie S. Weinreich, André L. M. Verbeek	2014	313
10	PRENATAL DIAGNOSIS AND CARRIER DETECTION OF DUCHENNE MUSCULAR DYSTROPHY WITH CLOSELY LINKED RFLPs The Lancet ·Egbert Bakker, Nicole Goor, Klaus Wrogemann, Louis M. Kunkel, Wayne A. Fenton, Danielle F. Majoor‐Krakauer, Milena G. J. Jahoda, G.J.B. van Ommen	1985	312
11	Rapid detection of BRCA1 mutations by the protein truncation test Nature Genetics ·Frans B.L. Hogervorst, Renée S. Cornelis, Mattie Bout, Margreethe van Vliet, Jan C. Oosterwijk, Renske Olmer, Egbert Bakker, Jan G.M. Klijn	1995	272
12	Estimating Y Chromosome Specific Microsatellite Mutation Frequencies using Deep Rooting Pedigrees Human Molecular Genetics ·Évelyne Heyer, Jack Puymirat, Patrick Dieltjes, Egbert Bakker, Peter de Knijff	1997	227
13	Genome-wide association study identifies three new melanoma susceptibility loci Nature Genetics ·Jennifer H. Barrett, Mark Martin Iles, Mark Harland, John Taylor, Joanne F. Aitken, Per Arne Andresen, Lars A. Akslen, Bruce Konrad Armstrong	2011	208
14	Laboratory guidelines for molecular diagnosis of Y‐chromosomal microdeletions International Journal of Andrology ·Manuela Simoni, Egbert Bakker, Eurlings, GERT L. MATTHIJS, Enrico Moro, Müller, Vogt Vogt	1999	206
15	Isolation of probes detecting restriction fragment length polymorphisms from X chromosome-specific libraries: potential use for diagnosis of Duchenne muscular dystrophy Human Genetics ·Marten H. Hofker, Martin C. Wapenaar, Nicole Goor, Egbert Bakker, G.J.B. van Ommen, Peter Lees Pearson	1985	198
16	Hereditary Nonpolyposis Colorectal Cancer Families Not Complying with the Amsterdam Criteria Show Extremely Low Frequency of Mismatch-Repair-Gene Mutations The American Journal of Human Genetics ·Juul Wijnen, P. Meera Khan, Hans F. A. Vasen, Heleen van der Klift, Adri Mulder, Inge van Leeuwen‐Cornelisse, Egbert Bakker, Monique Losekoot	1997	189
17	Signs and symptoms of Duchenne muscular dystrophy and Becker muscular dystrophy among carriers in the Netherlands: a cohort study The Lancet ·EM Hoogerwaard, Egbert Bakker, PF Ippel, JC Oosterwijk, DF Majoor‐Krakauer, NJ Leschot, AJ Van Essen, HG Brunner	1999	189
18	Compliance and Persistence in Pediatric and Adult Patients Receiving Growth Hormone Therapy Endocrine Practice ·Ron G. Rosenfeld, Egbert Bakker	2008	181
19	Duchenne muscular dystrophy Neurology ·Richard J. Bartlett, Margaret A. Pericak‐Vance, Jin‐Young Koh, Larry H. Yamaoka, J. C. Chen, Wu-Yen Hung, Marcy C. Speer, Martin C. Wapenaar	1988	179
20	Array-CGH detection of micro rearrangements in mentally retarded individuals: clinical significance of imbalances present both in affected children and normal parents Journal of Medical Genetics ·Carla Rosenberg, Jeroen Knijnenburg, Egbert Bakker, Angela Maria Vianna‐Morgante, Willem C.R. Sloos, Paulo Alberto Otto, Marjolein Kriek, Kerstin B.M. Hansson	2005	179

About Egbert Bakker

Egbert Bakker is a scholar working on Genetics, Genetics, Molecular Biology, Cellular and Molecular Neuroscience and Hematology, having authored 271 papers that have together received 16.0k indexed citations. Recurring topics across this work include Muscle Physiology and Disorders (73 papers), Genetic Neurodegenerative Diseases (32 papers), Neurogenetic and Muscular Disorders Research (29 papers), Genomic variations and chromosomal abnormalities (26 papers), Cardiomyopathy and Myosin Studies (24 papers), Genetics and Neurodevelopmental Disorders (21 papers), Growth Hormone and Insulin-like Growth Factors (18 papers) and Prenatal Screening and Diagnostics (16 papers). The work is most often cited by research in Genetics (4.7k citations), Genetics (1.6k citations), Molecular Biology (8.4k citations), Cellular and Molecular Neuroscience (1.3k citations) and Cardiology and Cardiovascular Medicine (1.5k citations). Egbert Bakker has collaborated with scholars based in Netherlands, United States and United Kingdom. Frequent co-authors include Peter Lees Pearson, Johan T. den Dunnen, Manuela Simoni, G.J.B. van Ommen, Ron G. Rosenfeld, Christine Van Broeckhoven, Csilla Gabriella Krausz, Martin C. Wapenaar, Wim Van Hul and J. Haan. Their work appears in journals such as Journal of Medical Genetics, European Journal of Human Genetics, Human Genetics, Neuromuscular Disorders and Human Mutation.

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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