Research Topics
Genomes and Genes
| Johan T den DunnenSummaryAffiliation: Leiden University Medical Center Country: The Netherlands Publications
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Detail Information
Publications
Nomenclature for the description of human sequence variationsJ T den Dunnen
MGC Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Hum Genet 109:121-4. 2001..This document lists the existing recommendations and summarizes suggestions for the description of additional, more complex changes. Another version of this paper has been published in Hum Mut 15:7-12, 2000...- [From gene to disease; the dystrophin gene involved in Duchenne and Becker muscular dystrophy]J T den Dunnen
Afd Humane Genetica, Leids Universitair Medisch Centrum, Wassenaarseweg 72, 2333 AL Leiden
Ned Tijdschr Geneeskd 146:364-7. 2002..Fifteen years after the discovery of the dystrophin gene, mutations can be detected in 95% of the patients, while the remaining 5% are still hiding within this very large gene... 
Sharing data between LSDBs and central repositoriesJohan T den Dunnen
Leiden University Medical Center, Albinusdreef 2, Leiden, The Netherlands
Hum Mutat 30:493-5. 2009..The document has been circulated in the HGVS/LSDB community and was discussed extensively. Here we summarize these discussions and present the concluded recommendations for LSDB data sharing with central repositories...
Developing a set of ancestry-sensitive DNA markers reflecting continental origins of humansPaula Kersbergen
Department of Human Biological Traces R and D, Netherlands Forensic Institute, PO Box 24044, 2490 AA The Hague, The Netherlands
BMC Genet 10:69. 2009....- Detection of mutations in the dystrophin gene via automated DHPLC screening and direct sequencingR R Bennett
Division of Genetics, Children s Hospital, Boston, Massachusetts, USA
BMC Genet 2:17. 2001..The aim of this project was to develop an effective and convenient method of finding all, or most, mutations in the dystrophin gene with only a moderate increase in cost... - Diagnosis of genetic abnormalities in developmentally delayed patients: a new strategy combining MLPA and array-CGHMarjolein Kriek
Center for Human and Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands
Am J Med Genet A 143:610-4. 2007 - Therapeutic exon skipping for dysferlinopathies?Annemieke Aartsma-Rus
Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Eur J Hum Genet 18:889-94. 2010..We also show that DYSF exon skipping seems to be as straightforward as DMD exon skipping, as AONs to induce efficient skipping of four DYSF exons were readily identified... - Generation and characterization of transgenic mice with the full-length human DMD genePeter A C 't Hoen
Center for Human and Clinical Genetics, Leiden University Medical Center, Postal Zone S4 P, PO Box 9600, 2300 RC Leiden, The Netherlands
J Biol Chem 283:5899-907. 2008..In addition, the hDMD mouse can be used to study the influence of the genomic context on deletion and recombination frequencies, genome stability, and gene expression regulation... - Gene expression profiling to monitor therapeutic and adverse effects of antisense therapies for Duchenne muscular dystrophyPeter A C 't Hoen
Leiden University Medical Center, Center for Human and Clinical Genetics, Room S 04 003, Postbus 9600, 2300 RC Leiden, The Netherlands
Pharmacogenomics 7:281-97. 2006.... - Deep sequencing-based expression analysis shows major advances in robustness, resolution and inter-lab portability over five microarray platformsPeter A C 't Hoen
The Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Nucleic Acids Res 36:e141. 2008..We conclude that deep sequencing provides a major advance in robustness, comparability and richness of expression profiling data and is expected to boost collaborative, comparative and integrative genomics studies... - Gene expression profiling highlights defective myogenesis in DMD patients and a possible role for bone morphogenetic protein 4Ellen Sterrenburg
Center for Human and Clinical Genetics, Leiden University Medical Center, Einthovenweg 20, 2333 ZA Leiden, The Netherlands
Neurobiol Dis 23:228-36. 2006..These results support the hypothesis that inefficient muscle regeneration is caused by impaired myoblast differentiation and impaired maintenance of the myotubes... - Exploring the frontiers of therapeutic exon skipping for Duchenne muscular dystrophy by double targeting within one or multiple exonsAnnemieke Aartsma-Rus
DMD Genetic Therapy Group, Center for Human and Clinical Genetics, Leiden University Medical Center, RC Leiden, The Netherlands
Mol Ther 14:401-7. 2006..We aimed at inducing larger multiexon-skipping stretches, such as exons 17-51, exons 42-55, and exons 45-59. However, this appeared complicated and may be dependent on cotranscriptional splicing and the size of the flanking introns... - Targeted exon skipping in transgenic hDMD mice: A model for direct preclinical screening of human-specific antisense oligonucleotidesMattie Bremmer-Bout
Center for Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
Mol Ther 10:232-40. 2004..These data highlight the high sequence specificity of this therapy and present the hDMD mouse as a unique model to optimize human-specific exon skipping in vivo... - Antisense-induced multiexon skipping for Duchenne muscular dystrophy makes more senseAnnemieke Aartsma-Rus
Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Am J Hum Genet 74:83-92. 2004..In fact, we here demonstrate its feasibility in myotubes from a patient with an exon 48-50 deletion. The application of multiexon skipping may provide a more uniform methodology for a larger group of patients with DMD... - Targeting several CAG expansion diseases by a single antisense oligonucleotideMelvin M Evers
Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
PLoS ONE 6:e24308. 2011.... - Dual exon skipping in myostatin and dystrophin for Duchenne muscular dystrophyDwi U Kemaladewi
Center for Human and Clinical Genetics, Leiden University Medical Center, Postzone S4 P, PO Box 9600, Leiden, 2300RC, The Netherlands
BMC Med Genomics 4:36. 2011..In this study, we aim to knockdown myostatin by means of exon skipping, a technique which has been successfully applied to reframe the genetic defect of dystrophin gene in DMD patients... - A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevanceMarjolein Kriek
Center for Human and Clinical Genetics, Leiden University Medical Center, Einthovenweg, 2300 RC, Leiden, The Netherlands
Hum Genet 120:77-84. 2006..This study highlights the value of using different genomic approaches to unravel chromosomal alterations in order to study their phenotypic impact... - Genome-wide assessment of differential roles for p300 and CBP in transcription regulationYolande F M Ramos
Department of Molecular Cell Biology, Leiden University Medical Center, Postzone S4 0P, PO Box 9600, 2300 RC Leiden, The Netherlands
Nucleic Acids Res 38:5396-408. 2010..Taken together, our findings further elucidate the distinct roles of coactivators p300 and CBP in transcriptional regulation... - Accurate quantification of dystrophin mRNA and exon skipping levels in duchenne muscular dystrophyPietro Spitali
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
Lab Invest 90:1396-402. 2010..The use of the same technique allows comparison between different groups working on exon skipping in the mdx mouse model... - Experiences with array-based sequence capture; toward clinical applicationsRowida Almomani
Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Eur J Hum Genet 19:50-5. 2011..Future arrays should contain probes from both DNA strands, and to obtain a more even coverage, one could add fewer probes from densely and more probes from sparsely covered regions... - Gene expression variation between mouse inbred strainsRolf Turk
Center for Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, Nederland
BMC Genomics 5:57. 2004..In this study, we investigated the effect of genetic background on expression profiles. We analysed the transcriptome of mouse hindlimb muscle of five frequently used mouse inbred strains using spotted oligonucleotide microarrays... - Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangementsMarion Phylipsen
Hemoglobinopathies Laboratory, Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Hum Mutat 33:272-80. 2012.... - CORE_TF: a user-friendly interface to identify evolutionary conserved transcription factor binding sites in sets of co-regulated genesMatthew S Hestand
The Center for Human and Clinical Genetics, Leiden University Medical Center, Postzone S4 0P, PO Box 9600, 2300 RC Leiden, The Netherlands
BMC Bioinformatics 9:495. 2008..Computational methods to reduce false positives are to look for over-representation of transcription factor binding sites in a set of similarly regulated promoters or to look for conservation in orthologous promoter alignments... - Local dystrophin restoration with antisense oligonucleotide PRO051Judith C van Deutekom
Department of Human and Clinical Genetics, Leiden University Medical Center, The Netherlands
N Engl J Med 357:2677-86. 2007..We explored the safety, adverse-event profile, and local dystrophin-restoring effect of a single, intramuscular dose of an antisense oligonucleotide, PRO051, in patients with this disease... - Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patientsAnnemieke Aartsma-Rus
Center for Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
Hum Mol Genet 12:907-14. 2003..These results document important progress towards a clinically applicable, small-molecule based therapy... - Intensity-based analysis of two-colour microarrays enables efficient and flexible hybridization designsPeter A C 't Hoen
Center for Human and Clinical Genetics, Leiden University Medical Center, The Netherlands
Nucleic Acids Res 32:e41. 2004.... - Deep sequencing to reveal new variants in pooled DNA samplesAstrid A Out
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Hum Mutat 30:1703-12. 2009..We describe custom bioinformatics and statistics to optimize detection of rare variants and to estimate required sequencing depth. Our results provide directions for designing high-throughput analyses of candidate genes... - Detecting copy number changes in genomic DNA: MAPH and MLPAStefan J White
Center for Human and Clinical Genetics, Leiden University Medical Center, 2333 AL Leiden, Nederland
Methods Cell Biol 75:751-68. 2004 - Rapid and cost effective detection of small mutations in the DMD gene by high resolution melting curve analysisRowida Almomani
Center for Human and Clinical Genetics, LUMC, Einthovenweg 20, Leiden, The Netherlands
Neuromuscul Disord 19:383-90. 2009..Our results provide validation of HR-MCA as a powerful and inexpensive pre-sequencing scanning method. This technology is now ready for routine diagnostic use on DMD/BMD patients and female carriers... - Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutationsAnnemieke Aartsma-Rus
Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Hum Mutat 30:293-9. 2009..Further research is needed to determine the functionality of different in-frame dystrophins and a number of hurdles has to be overcome before this approach can be applied clinically... - mRNA degradation controls differentiation state-dependent differences in transcript and splice variant abundancePeter A C 't Hoen
Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Nucleic Acids Res 39:556-66. 2011..In conclusion, control of stability and degradation emerge as important determinants for differential expression of mRNA transcripts and splice variants... - Leiden Open Variation Database of the MUTYH geneAstrid A Out
Department of Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Hum Mutat 31:1205-15. 2010..This open-access repository allows all involved to quickly share all variants encountered and communicate potential consequences, which will be especially useful to classify variants of uncertain significance... - Functional analysis of 114 exon-internal AONs for targeted DMD exon skipping: indication for steric hindrance of SR protein binding sitesAnnemieke Aartsma-Rus
Leiden University Medical Center, Center for Human and Clinical Genetics, 2333 AL Leiden, The Netherlands
Oligonucleotides 15:284-97. 2005..Our results suggest that effective exon-internal AONs primarily act by blocking SR binding sites (which often correspond to open structures) and that ESEfinder may be used to refine AON design for DMD and other genes... - MLPA and MAPH: sensitive detection of deletions and duplicationsJohan T den Dunnen
Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Curr Protoc Hum Genet . 2006..g., Southern blotting, fluorescence in situ hybridization (FISH), quantitative PCR (qPCR), and breakpoint PCR, they have some clear advantages, including high resolution, high throughput, amenability to multiplexing, and simplicity... - Large-scale gene expression analysis of human skeletal myoblast differentiationEllen Sterrenburg
Center for Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
Neuromuscul Disord 14:507-18. 2004..Further study of these genes can bring new insights into the process of muscle differentiation, and they are candidate genes for neuromuscular disorders with an as yet unidentified cause... - Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndromeGijs W E Santen
Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Nat Genet 44:379-80. 2012.... - Curating gene variant databases (LSDBs): toward a universal standardJacopo Celli
Human and Clinical Genetics, Leiden University Medical Center, Leiden, Netherlands
Hum Mutat 33:291-7. 2012..Our overview is a first step toward establishing overall guidelines for database curation and ultimately covers one aspect of establishing quality-assured gene variant databases... - Mutant huntingtin activates Nrf2-responsive genes and impairs dopamine synthesis in a PC12 model of Huntington's diseaseWilleke M C van Roon-Mom
Center for Human and Clinical Genetics, Leiden, The Netherlands
BMC Mol Biol 9:84. 2008..mRNA changes were studied in an inducible PC12 model of Huntington's disease, before and after aggregates became visible, to identify groups of genes that could play a role in the early pathology of Huntington's disease... - Novel protein-protein interactions inferred from literature contextHerman H H B M van Haagen
Biosemantics Association, Department of Human Genetics, Leiden University Medical Center, Leiden, and Department of Medical Informatics, Erasmus University Medical Center, Rotterdam, The Netherlands
PLoS ONE 4:e7894. 2009..Our framework can be used for prioritizing potential interaction partners, hitherto undiscovered, for follow-up studies and to aid the generation of accurate protein interaction maps... - Copy number variation in regions flanked (or unflanked) by duplicons among patients with developmental delay and/or congenital malformations; detection of reciprocal and partial Williams-Beuren duplicationsMarjolein Kriek
Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Eur J Hum Genet 14:180-9. 2006..11. Our results support the hypothesis that regions flanked by duplicons are enriched for copy number variations... - LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approachIvo F A C Fokkema
Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Hum Mutat 26:63-8. 2005..The LOVD software is freely available from the Leiden Muscular Dystrophy pages (www.DMD.nl/LOVD/). To promote the use of LOVD, we currently offer curators the possibility to set up an LSDB on our Leiden server... - Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferaseSaskia A J Lesnik Oberstein
Center for Human and Clinical Genetics, Department of Clinical Genetics, K5 R, Leiden University Medical Center, 2300 RC Leiden, The Netherlands
Am J Hum Genet 79:562-6. 2006..This finding is expected to put Peters Plus syndrome on the growing list of congenital malformation syndromes caused by glycosylation defects... - Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checkerMartin Wildeman
Department of Human Genetics, Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Hum Mutat 29:6-13. 2008..Mutalyzer will be linked to the Leiden Open source Variation Database (LOVD) (www.LOVD.nl; last accessed 13 September 2007) and is the first module of a sequence variant effect prediction package... - New methods for next generation sequencing based microRNA expression profilingHenk P J Buermans
Center for Human and Clinical Genetics, Leiden University Medical Center, Einthovenweg 20, 2333 ZC Leiden, The Netherlands
BMC Genomics 11:716. 2010..A modification to the small-RNA expression kit (SREK, Ambion) library preparation method for the SOLiD sequencing platform is described to generate microRNA sequencing libraries that are compatible with the Illumina Genome Analyzer... - Exome sequencing identifies a branch point variant in Aarskog-Scott syndromeEmmelien Aten
Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Hum Mutat 34:430-4. 2013..Our results show that besides digging deeper to reveal nonobvious variants, isolation and analysis of RNA provides a valuable but under-appreciated tool to resolve cases with unknown genetic defects... - Tissue-specific transcript annotation and expression profiling with complementary next-generation sequencing technologiesMatthew S Hestand
The Center for Human and Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands
Nucleic Acids Res 38:e165. 2010..Next-generation sequencing of CAGE and SAGE libraries provides consistent expression levels and can enrich current genome annotations with tissue-specific promoters and alternative 3'-UTR usage... - Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosisStefan J White
Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Hum Mutat 26:59. 2005.... - Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading-frame ruleAnnemieke Aartsma-Rus
Leiden University Medical Center, Department of Human Genetics, P O Box 9600, 2300 RC Leiden, The Netherlands
Muscle Nerve 34:135-44. 2006..In this study we provide an update of the mutational variability in the DMD gene, particularly focusing on genotype-phenotype correlations and mutations that appear to be exceptions to the reading-frame rule... - Microarray retriever: a web-based tool for searching and large scale retrieval of public microarray dataAlexander E Ivliev
Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Nucleic Acids Res 36:W327-31. 2008..The tool is available on the web at: http://www.lgtc.nl/MaRe/.. - Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplificationMarie J E Walenkamp
Department of Pediatrics J6 S, Leiden University Medical Center, Leiden, The Netherlands
J Clin Endocrinol Metab 93:2421-5. 2008..The incidence of submicroscopic deletions is unknown, as is the effect of GH therapy in this condition... - Cost-effective HRMA pre-sequence typing of clone libraries; application to phage display selectionBarry A Pepers
Center for Human and Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, Leiden, The Netherlands
BMC Biotechnol 9:50. 2009..In the current study we show that high-resolution melt curve analysis (HRMA) is a simple, cost-saving tool to quickly study clonal variation without prior nucleotide sequence knowledge... - Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2Richard J L F Lemmers
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
Nat Genet 44:1370-4. 2012..Our study identifies SMCHD1 as an epigenetic modifier of the D4Z4 metastable epiallele and as a causal genetic determinant of FSHD2 and possibly other human diseases subject to epigenetic regulation... - The effects of low levels of dystrophin on mouse muscle function and pathologyMaaike van Putten
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
PLoS ONE 7:e31937. 2012..Based on these findings, we conclude that while even dystrophin levels below 15% can improve pathology and performance, levels of >20% are needed to fully protect muscle fibers from exercise-induced damage... - Single molecule sequencing of free DNA from maternal plasma for noninvasive trisomy 21 detectionJessica M E van den Oever
Center for Human and Clinical Genetics, Laboratory for Diagnostic Genome Analysis, Leiden University Medical Center, Leiden, The Netherlands
Clin Chem 58:699-706. 2012..To eliminate this bias, and thereby experimental noise, we have used single molecule sequencing as an alternative method... - Increased sensitivity of next generation sequencing-based expression profiling after globin reduction in human blood RNAAnastasios Mastrokolias
Center for Human and Clinical Genetics, Leiden University Medical Center, Einthovenweg 20, 2333ZC, Leiden, The Netherlands
BMC Genomics 13:28. 2012..We have removed globin transcripts from 6 human whole blood RNA samples with a human globin reduction kit and compared them with the same non-reduced samples using deep Serial Analysis of Gene Expression... - Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophyAnnemieke Aartsma-Rus
Department of Human Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
Neuromuscul Disord 12:S71-7. 2002..Accordingly, these antisense oligoribonucleotides would allow correction of over 50% of deletions and 22% of duplications reported in the Leiden DMD-mutation Database... - High-throughput genotyping of mannose-binding lectin variants using high-resolution DNA-melting analysisRolf H A M Vossen
Leiden Genome Technology Center, Human and Clinical Genetics, Leiden University Medical Center, Albinusdreef 2, Leiden, The Netherlands
Hum Mutat 31:E1286-93. 2010..The present study thereby facilitates further clinical studies into the role of MBL in inflammatory and infectious disease... - Comprehensive gene-expression survey identifies wif1 as a modulator of cardiomyocyte differentiationHenk P J Buermans
Human and Clinical Genetics Leiden University Medical Center, Leiden, The Netherlands
PLoS ONE 5:e15504. 2010..In ovo exposure of the HH12 chicken embryonic heart to Wif1 increases the Tbx18-positive cardiac progenitor pool. These data indicate that Wif1 enhances cardiomyogenesis... - Serum protein profiling in mice: identification of Factor XIIIa as a potential biomarker for muscular dystrophySharmini Alagaratnam
Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
Proteomics 8:1552-63. 2008..This work underlines the translational aspect of serum protein profiling in mice and supports a further study with serum from patients with neuromuscular disorders... - New insights in gene-derived therapy: the example of Duchenne muscular dystrophyAnnemieke Aartsma-Rus
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
Ann N Y Acad Sci 1214:199-212. 2010..This review will explain the rationale and current state of affairs of these approaches and will then discuss how these gene-derived therapies might also be applicable to other diseases... - Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostosesStefan J White
Center for Human and Clinical Genetics, Leiden University Medical Center, The Netherlands
Hum Mutat 24:86-92. 2004..The approach is especially suited for cases in which the number of patients to be tested is limited, making it financially unattractive to invest in cloning... - Y chromosome detection by Real Time PCR and pyrophosphorolysis-activated polymerisation using free fetal DNA isolated from maternal plasmaElles M J Boon
Leiden University Medical Center, Center for Human and Clinical Genetics, Leiden, The Netherlands
Prenat Diagn 27:932-7. 2007.... - Can subtle changes in gene expression be consistently detected with different microarray platforms?Paola Pedotti
Center for Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands
BMC Genomics 9:124. 2008..Here we address the performance and the overlap in the detection of differentially expressed genes for five different microarray platforms in a challenging biological context where differences in gene expression are few and subtle... - Poly(A) binding protein nuclear 1 levels affect alternative polyadenylationEleonora de Klerk
Center for Human and Clinical Genetics, Leiden University Medical Center, 2300 RC Leiden, The Netherlands
Nucleic Acids Res 40:9089-101. 2012.... - Literature-aided interpretation of gene expression data with the weighted global testRob Jelier
Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
Brief Bioinform 12:518-29. 2011..Literature mining tools are therefore powerful additions to the toolbox for the interpretation of high-throughput genomics data... - Mutations in ZBTB24 are associated with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2Jessica C de Greef
Department of Human Genetics, Leiden University Medical Center, 2333 ZA Leiden, The Netherlands
Am J Hum Genet 88:796-804. 2011.... - High-resolution melting analysis (HRMA): more than just sequence variant screeningRolf H A M Vossen
Leiden Genome Technology Center LGTC, Human and Clincal Genetics, Leiden University Medical Center, Leiden, The Netherlands
Hum Mutat 30:860-6. 2009..Together, these diverse applications make HRMA a multipurpose technology and a standard tool that should be present in any laboratory studying nucleic acids... - Keratosis Follicularis Spinulosa Decalvans is caused by mutations in MBTPS2Emmelien Aten
Center of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Nederlands
Hum Mutat 31:1125-33. 2010..Other missense mutations in MBTPS2 have recently been identified in patients with IFAP syndrome. We postulate that both phenotypes are in the spectrum of one genetic disorder with a partially overlapping phenotype... - Multiplex PCR for identifying DMD gene deletionsJohan T den Dunnen
Leiden University Medical Center, Leiden, The Netherlands
Curr Protoc Hum Genet . 2006..The Alternate Protocol is a modification of the Basic Protocol for radioactive detection of duplications in males and deletions in carrier females... - Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause diseaseJeroen H Roelfsema
Center for Human and Clinical Genetics, Leiden University Medical Center, Sylvius Laboratory, Leiden, The Netherlands
Am J Hum Genet 76:572-80. 2005..We extended the search for mutations to the EP300 gene and showed that mutations in EP300 also cause this disorder. These are the first mutations identified in EP300 for a congenital disorder... - GeneHopper: a web-based search engine to link gene-expression platforms through GenBank accession numbersB Anders T Svensson
Center for Human and Clinical Genetics/Leiden Genome Technology Center, Leiden University Medical Center, The Netherlands
Genome Biol 4:R35. 2003..We have developed the web-based search engine GeneHopper to link different expression resources based on UniGene clusters and HomoloGene orthologs databases of the National Center for Biotechnology Information (NCBI)... - LOVD v.2.0: the next generation in gene variant databasesIvo F A C Fokkema
Center of Human and Clinical Genetics, Department of Human Genetics, Leiden University Medical Center, Leiden, Nederland
Hum Mutat 32:557-63. 2011..To promote LSDB standardization and thereby database interoperability, we offer free server space and help to establish an LSDB on our Leiden server... - Comprehensive detection of genomic duplications and deletions in the DMD gene, by use of multiplex amplifiable probe hybridizationStefan White
Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333 AL Leiden, The Netherlands
Am J Hum Genet 71:365-74. 2002..Furthermore, the methodology should be applicable to any genetic disease, it should be easily expandable to cover >200 probes, and its characteristics should facilitate high-throughput screening... - Mutation nomenclatureJohan T den Dunnen
Leiden University Medical Center, Leiden, The Netherlands
Curr Protoc Hum Genet . 2003..This unit summarizes these nomenclature recommendations, which stimulated a uniform and unequivocal description of sequence variants in literature...