Martijn H. Breuning

Leiden University Medical Center — Netherlands

Biochemistry, Genetics and Molecular Biology · Life Sciences

62h-index17.2kcitations190works0.02yr avg
OpenAlex↗Google Scholar↗Lab page↗

Accepting Students?

No reports yet. Know if this professor is taking students?

Research Topics

Genetic and Kidney Cyst Diseases(38), Genomic variations and chromosomal abnormalities(33), Renal and related cancers(32), Genetic Syndromes and Imprinting(25), Chromosomal and Genetic Variations(13)

Publications190 total

Fumarase Deficiency: A Case With a New Pathogenic Mutation and a Review of the Literature
Journal of Child Neurology·2020· 12 citedOpen Access
Hypermorphic and hypomorphic AARS alleles in patients with CMT2N expand clinical and molecular heterogeneities
Human Molecular Genetics·2018· 33 citedOpen Access
Whole-Exome Sequencing Identifies Biallelic IDH3A Variants as a Cause of Retinitis Pigmentosa Accompanied by Pseudocoloboma
Ophthalmology·2017· 47 citedOpen Access
Diagnostic exome sequencing in 266 Dutch patients with visual impairment
European Journal of Human Genetics·2017· 149 citedOpen Access
Analysis of mutations within the intron20 splice donor site of CREBBP in patients with and without classical RSTS
European Journal of Human Genetics·2016· 4 citedOpen Access
Inhibition of Activin Signaling Slows Progression of Polycystic Kidney Disease
Journal of the American Society of Nephrology·2016· 51 citedOpen Access
Hereditary cancer registries improve the care of patients with a genetic predisposition to cancer: contributions from the Dutch Lynch syndrome registry
Familial Cancer·2016· 28 citedOpen Access
Deletion of the entire interferon-γ receptor 1 gene causing complete deficiency in three related patients
Journal of Clinical Immunology·2016· 23 citedOpen Access
Inactivation of <i>SDH</i> and <i>FH</i> cause loss of 5hmC and increased H3K9me3 in paraganglioma/pheochromocytoma and smooth muscle tumors
Oncotarget·2015· 93 citedOpen Access
LRP5 variants may contribute to ADPKD
European Journal of Human Genetics·2015· 36 citedOpen Access
Erfelijke ouderdomsdiabetes bij jongeren
Pure Amsterdam UMC·2015
Response to Dalal et al.
Genetics in Medicine·2015
Scattered Deletion of PKD1 in Kidneys Causes a Cystic Snowball Effect and Recapitulates Polycystic Kidney Disease
Journal of the American Society of Nephrology·2014· 83 citedOpen Access
A decade of molecular genetic testing for MODY: a retrospective study of utilization in The Netherlands
European Journal of Human Genetics·2014· 27 citedOpen Access
Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA
European Journal of Medical Genetics·2014· 13 cited
Copy Number Variants in Short Children Born Small for Gestational Age
Hormone Research in Paediatrics·2014· 47 citedOpen Access
PS6 - 5. Towards best practice guidelines for genetic testing for Maturity-Onset Diabetes of the Young
Nederlands Tijdschrift voor Diabetologie·2013
Impact of prenatal technologies on the sex ratio in India: an overview
Genetics in Medicine·2013· 61 citedOpen Access
Copy number variants in patients with short stature
European Journal of Human Genetics·2013· 75 citedOpen Access
Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients
Human Mutation·2013· 214 cited
page 1 of 10Next →

Frequent Co-authors

Dorien J.M. Peters(19), Johan T. den Dunnen(7), Emile de Heer(7), Wouter N. Leonhard(6), Marjolein Kriek(6), Raoul C. M. Hennekam(5), Stefan J. White(5), Hans F. A. Vasen(5), Claudia Ruivenkamp(5), Egbert Bakker(5), Arie van Haeringen(5), Peter E.M. Taschner(5), Hans G. Dauwerse(4), Eliécer Coto(4), Annette Bröcker‐Vriends(4), Sarina G. Kant(4), Barbera Veldhuisen(3), Jasper J. Saris(3), Rachel H. Giles(3), Roser Torrá(3)