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1

Entries in the Leiden Duchenne muscular dystrophy mutation database: An overview of mutation types and paradoxical cases that confirm the reading-frame rule

Annemieke Aartsma-Rus, Judith C. T. Van Deutekom, Ivo F. Fokkema, Gert-Jan B. Van Ommen, Johan T. Den Dunnen

Journal:

Year:

2006

Language:

english

File:

PDF, 810 KB

english, 2006

2

Three Genome-wide Association Studies and a Linkage Analysis Identify HERC2 as a Human Iris Color Gene

Manfred Kayser, Fan Liu, A. Cecile J.W. Janssens, Fernando Rivadeneira, Oscar Lao, Kate van Duijn, Mark Vermeulen, Pascal Arp, Mila M. Jhamai, Wilfred F.J. van IJcken, Johan T. den Dunnen, Simon Heath

Journal:

The American Journal of Human Genetics

Year:

2008

File:

PDF, 24 KB

2008

3

Theoretic applicability of antisense-mediated exon skipping for Duchenne muscular dystrophy mutations

Annemieke Aartsma-Rus, Ivo Fokkema, Jan Verschuuren, Ieke Ginjaar, Judith van Deutekom, Gert-Jan van Ommen, Johan T. den Dunnen

Journal:

Year:

2009

Language:

english

File:

PDF, 176 KB

english, 2009

4

Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex

Marianne Hoogeveen-Westerveld, Marjolein Wentink, Diana van den Heuvel, Melika Mozaffari, Rosemary Ekong, Sue Povey, Johan T. den Dunnen, Kay Metcalfe, Stephanie Vallee, Stefan Krueger, JoAnn Bergoffe

Journal:

Year:

2011

Language:

english

File:

PDF, 370 KB

english, 2011

5

A formalized description of the standard human variant nomenclature in Extended Backus-Naur Form

Jeroen F J Laros, André Blavier, Johan T den Dunnen, Peter E M Taschner

Journal:

BMC Bioinformatics

Year:

2011

Language:

english

File:

PDF, 224 KB

english, 2011

6

Rapid Detection of Translation-Terminating Mutations at the Adenomatous Polyposis Coli (APC) Gene by Direct Protein Truncation Test

Rob van der Luijt, P.Meera Khan, Hans Vasen, Claus van Leeuwen, Carli Tops, Pauline Roest, Johan den Dunnen, Riccardo Fodde

Journal:

Year:

1994

File:

PDF, 255 KB

1994

7

Targeted exon skipping as a potential gene correction therapy for Duchenne muscular dystrophy

Annemieke Aartsma-Rus, Mattie Bremmer-Bout, Anneke A.M Janson, Johan T den Dunnen, Gert-Jan B van Ommen, Judith C.T van Deutekom

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 165 KB

english, 2002

8

Functional Analysis of 114 Exon-Internal AONs for Targeted DMD Exon Skipping: Indication for Steric Hindrance of SR Protein Binding Sites

Aartsma-rus, Annemieke, De winter, Christa L., Janson, Anneke A.M., Kaman, Wendy E., Van ommen, Gert-jan B., Den dunnen, Johan T., Van deutekom, Judith C.T.

Journal:

Oligonucleotides

Year:

2005

Language:

english

File:

PDF, 181 KB

english, 2005

9

Point mutation screening for 16 exons of the dystrophin gene by multiplex single-strand conformation polymorphism analysis

Alexander L. J. Kneppers, Piëtte P. Deutz-Terlouw, Johan T. Den Dunnen, Gert Jan B. Van, Egbert Bakker

Journal:

Year:

1995

Language:

english

File:

PDF, 1.57 MB

english, 1995

10

Two-color multiplex ligation-dependent probe amplification: Detecting genomic rearrangements in hereditary multiple exostoses

Stefan J. White, Geraldine R. Vink, Marjolein Kriek, Wim Wuyts, Jan Schouten, Bert Bakker, Martijn H. Breuning, Johan T. den Dunnen

Journal:

Year:

2004

Language:

english

File:

PDF, 202 KB

english, 2004

11

LOVD v.2.0: the next generation in gene variant databases

Ivo F. A. C. Fokkema, Peter E. M. Taschner, Gerard C. P. Schaafsma, J. Celli, Jeroen F. J. Laros, Johan T. den Dunnen

Journal:

Year:

2011

Language:

english

File:

PDF, 405 KB

english, 2011

12

Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex

Marianne Hoogeveen-Westerveld, Rosemary Ekong, Sue Povey, Izabela Karbassi, Sat Dev Batish, Johan T. den Dunnen, Agnies van Eeghen, Elizabeth Thiele, Karin Mayer, Kira Dies, Li Wen, Catherine Thompson

Journal:

Year:

2012

Language:

english

File:

PDF, 210 KB

english, 2012

13

Reliable and controllable antibody fragment selections from Camelid non-immune libraries for target validation

Peter Verheesen, Andreas Roussis, Hans J. de Haard, Arjan J. Groot, Jord C. Stam, Johan T. den Dunnen, Rune R. Frants, Arie J. Verkleij, C. Theo Verrips, Silvère M. van der Maarel

Journal:

Biochimica et Biophysica Acta (BBA) - Proteins and Proteomics

Year:

2006

Language:

english

File:

PDF, 911 KB

english, 2006

14

Dystrophin nonsense mutation induces different levels of exon 29 skipping and leads to variable phenotypes within one BMD family

Ginjaar, Ieke B, Kneppers, Alexander LJ, v d Meulen, Jan-Douwe M, Anderson, Louise VB, Bremmer-Bout, Mattie, van Deutekom, Judith CT, Weegenaar, Jitske, den Dunnen, Johan T, Bakker, Egbert

Journal:

European Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 413 KB

english, 2000

15

Three Genome-wide Association Studies and a Linkage Analysis Identify HERC2 as a Human Iris Color Gene

Manfred Kayser, Fan Liu, A. Cecile J.W. Janssens, Fernando Rivadeneira, Oscar Lao, Kate van Duijn, Mark Vermeulen, Pascal Arp, Mila M. Jhamai, Wilfred F.J. van IJcken, Johan T. den Dunnen, Simon Heath

Journal:

The American Journal of Human Genetics

Year:

2008

Language:

english

File:

PDF, 1.44 MB

english, 2008

16

New methods for next generation sequencing based microRNA expression profiling

Henk PJ Buermans, Yavuz Ariyurek, Gertjan van Ommen, Johan T den Dunnen, Peter AC 't Hoen

Journal:

Year:

2010

Language:

english

File:

PDF, 1.14 MB

english, 2010

17

Exon Mapping by Fiber-FISH or LR-PCR

Ralph J. Florijn, Frans M.van de Ruke, Hans Vrolijk, Lau A.J. Blonden, Marten H. Hofker, Johan T.den Dunnen, Hans J. Tanke, Gert-Jan B.van Ommen, Anton K. Raap

Journal:

Year:

1996

Language:

english

File:

PDF, 153 KB

english, 1996

18

Large-scale gene expression analysis of human skeletal myoblast differentiation

Ellen Sterrenburg, Rolf Turk, Peter A.C. 't Hoen, Judith C.T. van Deutekom, Judith M. Boer, Gert-Jan B. van Ommen, Johan T. den Dunnen

Journal:

Neuromuscular Disorders

Year:

2004

Language:

english

File:

PDF, 375 KB

english, 2004

19

Mutation Update: The Spectra of Nebulin Variants and Associated Myopathies

Lehtokari, Vilma-Lotta, Kiiski, Kirsi, Sandaradura, Sarah A., Laporte, Jocelyn, Repo, Pauliina, Frey, Jennifer A., Donner, Kati, Marttila, Minttu, Saunders, Carol, Barth, Peter G., den Dunnen, Johan T

Journal:

Year:

2014

Language:

english

File:

PDF, 849 KB

english, 2014

20

Reply to Clarity and claims in variation/mutation databasing

Bale, Sherri, Rehm, Heidi L, Nussbaum, Robert, Hegde, Madhuri, den Dunnen, Johan T, Willems, Patrick

Journal:

Nature Biotechnology

Year:

2011

Language:

english

File:

PDF, 155 KB

english, 2011

21

Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD)

Carrera, Paola, Calzavara, Silvia, Magistroni, Riccardo, den Dunnen, Johan T., Rigo, Francesca, Stenirri, Stefania, Testa, Francesca, Messa, Piergiorgio, Cerutti, Roberta, Scolari, Francesco, Izzi, Cl

Journal:

Scientific Reports

Year:

2016

Language:

english

File:

PDF, 906 KB

english, 2016

22

Yet another database?

den Dunnen, Johan T.

Journal:

Year:

2018

Language:

english

File:

PDF, 427 KB

english, 2018

23

The protein truncation test: A review

Johan T. Den Dunnen, Gert-Jan B. Van Ommen

Journal:

Year:

1999

Language:

english

File:

PDF, 258 KB

english, 1999

24

Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis

Journal:

Year:

2000

Language:

english

File:

PDF, 204 KB

english, 2000

25

An integrated 5-Mb physical, genetic, and radiation hybrid map of a 1p36.1 region implicated in neuroblastoma pathogenesis

Nicole Spieker, Mabel Beitsma, Peter van Sluis, Ilja Roobeek, Johan T. den Dunnen, Frank Speleman, Huib Caron, Rogier Versteeg

Journal:

Genes, Chromosomes and Cancer

Year:

2000

Language:

english

File:

PDF, 179 KB

english, 2000

26

Detection of point mutation in dystrophin gene reveals somatic and germline mosaicism in the mother of a patient with Duchenne muscular dystrophy

Anthonie J. van Essen, Inge M. Mulder, Pieter van der Vlies, Annemarie H. van der Hout, Charles H.C.M. Buys, Robert M.W. Hofstra, Johan T. den Dunnen

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 66 KB

english, 2003

27

Diagnosis of genetic abnormalities in developmentally delayed patients: A new strategy combining MLPA and array-CGH

Marjolein Kriek, Jeroen Knijnenburg, Stefan J. White, Carla Rosenberg, Johan T. den Dunnen, Gert-Jan B. van Ommen, Hans J. Tanke, Martijn H. Breuning, Karoly Szuhai

Journal:

American Journal of Medical Genetics Part A

Year:

2007

Language:

english

File:

PDF, 97 KB

english, 2007

28

Split hand-foot malformation, tetralogy of Fallot, mental retardation and a 1 Mb 19p deletion—evidence for further heterogeneity?

Emmelien Aten, Nicolette den Hollander, Claudia Ruivenkamp, Jeroen Knijnenburg, Hans van Bokhoven, Johan den Dunnen, Martijn Breuning

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 261 KB

english, 2009

29

Balanced translocation in a neuroblastoma patient disrupts a cluster of small nuclear RNA UI and tRNA genes in chromosomal band Ip36

Pauline van der Drift, Alvin Chan, Geneviève Laureys, Nadine van Roy, Grace Sickmann, Johan den Dunnen, Andries Westerveld, Frank Speleman, Rogier Versteeg

Journal:

Genes, Chromosomes and Cancer

Year:

1995

Language:

english

File:

PDF, 630 KB

english, 1995

30

Corrigendum: Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion

Johan T. den Dunnen, Stylianos E. Antonarakis

Journal:

Year:

2002

File:

PDF, 46 KB

2002

31

Standardizing mutation nomenclature: Why bother?

Johan T. den Dunnen, Mark H. Paalman

Journal:

Year:

2003

Language:

english

File:

PDF, 67 KB

english, 2003

32

Three-tiered noninvasive diagnosis in 96% of patients with Duchenne muscular dystrophy (DMD)

Jin Yan, Jinong Feng, Carolyn H. Buzin, William Scaringe, Qiang Liu, Jerry R. Mendell, Johan den Dunnen, Steve S. Sommer

Journal:

Year:

2004

Language:

english

File:

PDF, 84 KB

english, 2004

33

Mutation rates in the dystrophin gene: A hotspot of mutation at a CpG dinucleotide

Carolyn H. Buzin, Jinong Feng, Jin Yan, William Scaringe, Qiang Liu, Johan den Dunnen, Jerry R. Mendell, Steve S. Sommer

Journal:

Year:

2005

Language:

english

File:

PDF, 207 KB

english, 2005

34

LOVD: Easy creation of a locus-specific sequence variation database using an “LSDB-in-a-box” approach

Ivo F.A.C. Fokkema, Johan T. den Dunnen, Peter E.M. Taschner

Journal:

Year:

2005

Language:

english

File:

PDF, 432 KB

english, 2005

35

Improving sequence variant descriptions in mutation databases and literature using the Mutalyzer sequence variation nomenclature checker

Martin Wildeman, Ernest van Ophuizen, Johan T. den Dunnen, Peter E.M. Taschner

Journal:

Year:

2008

Language:

english

File:

PDF, 376 KB

english, 2008

36

Sharing data between LSDBs and central repositories

Johan T. den Dunnen, Rolf H. Sijmons, Paal S. Andersen, Mauno Vihinen, Jacques S. Beckmann, Sandro Rossetti, C. Conover Talbot Jr, Ross C. Hardison, Sue Povey, Richard G.H. Cotton

Journal:

Year:

2009

Language:

english

File:

PDF, 115 KB

english, 2009

37

High-Resolution Melting Analysis (HRMA)—More than just sequence variant screening

Rolf H.A.M. Vossen, Emmelien Aten, Anja Roos, Johan T. den Dunnen

Journal:

Year:

2009

Language:

english

File:

PDF, 340 KB

english, 2009

38

High-throughput genotyping of mannose-binding lectin variants using high-resolution DNA-melting analysis

Rolf H.A.M. Vossen, Martine van Duijn, Mohamed R. Daha, Johan T. den Dunnen, Anja Roos

Journal:

Year:

2010

Language:

english

File:

PDF, 196 KB

english, 2010

39

Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)

Sue Povey, Aida I. Al Aqeel, Anne Cambon-Thomsen, Raymond Dalgleish, Johan T. den Dunnen, Helen V. Firth, Marc S. Greenblatt, Carol Isaacson Barash, Michael Parker, George P. Patrinos, Judith Savige,

Journal:

Year:

2010

Language:

english

File:

PDF, 145 KB

english, 2010

40

Describing structural changes by extending HGVS sequence variation nomenclature

Peter E.M. Taschner, Johan T. den Dunnen

Journal:

Year:

2011

Language:

english

File:

PDF, 215 KB

english, 2011

41

Deciphering the colon cancer genes—report of the InSiGHT-Human Variome Project Workshop, UNESCO, Paris 2010

Maija R.J. Kohonen-Corish, Finlay Macrae, Maurizio Genuardi, Stefan Aretz, Bharati Bapat, Inge T. Bernstein, John Burn, Richard G.H. Cotton, Johan T. den Dunnen, Thierry Frebourg, Marc S. Greenblatt,

Journal:

Year:

2011

Language:

english

File:

PDF, 114 KB

english, 2011

42

Fine-tiling array CGH to improve diagnostics for α- and β-thalassemia rearrangements

Marion Phylipsen, Attawut Chaibunruang, Ingrid P. Vogelaar, Jeetindra R. A. Balak, Rianne A. C. Schaap, Yavuz Ariyurek, Supan Fucharoen, Johan T. den Dunnen, Piero C. Giordano, Egbert Bakker, Cornelis

Journal:

Year:

2012

Language:

english

File:

PDF, 381 KB

english, 2012

43

Using systematic nomenclature for CFTR variants: Improvement needed

Johan den Dunnen

Journal:

Year:

2011

Language:

english

File:

PDF, 90 KB

english, 2011

44

Curating gene variant databases (LSDBs): Toward a universal standard

Jacopo Celli, Raymond Dalgleish, Mauno Vihinen, Peter E.M. Taschner, Johan T. den Dunnen

Journal:

Year:

2012

Language:

english

File:

PDF, 343 KB

english, 2012

45

Guidelines for establishing locus specific databases

Mauno Vihinen, Johan T. den Dunnen, Raymond Dalgleish, Richard G. H. Cotton

Journal:

Year:

2012

Language:

english

File:

PDF, 404 KB

english, 2012

46

Mandatory variant submission—Our experiences

Johan den Dunnen, Garry R. Cutting, Mark H. Paalman

Journal:

Year:

2012

Language:

english

File:

PDF, 82 KB

english, 2012

47

Sarcoglycanopathies and the risk of undetected deletion alleles in diagnosis

Stefan J. White, Shirley Uitte de Willige, Dennis Verbove, Luisa Politano, Ieke Ginjaar, Martijn H. Breuning, Johan T. den Dunnen

Journal:

Year:

2005

Language:

english

File:

PDF, 138 KB

english, 2005

48

Developing a set of ancestry-sensitive DNA markers reflecting continental origins of humans

Paula Kersbergen, Kate van Duijn, Ate D Kloosterman, Johan T den Dunnen, Manfred Kayser, Peter de Knijff

Journal:

Year:

2009

Language:

english

File:

PDF, 619 KB

english, 2009

49

High throughput nano-liter RT-qPCR to classify soil contamination using a soil arthropod

Muriel E de Boer, Sandra Berg, Martijn JTN Timmermans, Johan T den Dunnen, Nico M van Straalen, Jacintha Ellers, Dick Roelofs

Journal:

BMC Molecular Biology

Year:

2011

Language:

english

File:

PDF, 2.04 MB

english, 2011

50

Mutant huntingtin activates Nrf2-responsive genes and impairs dopamine synthesis in a PC12 model of Huntington's disease

Willeke MC van Roon-Mom, Barry A Pepers, Peter AC 't Hoen, Carola ACM Verwijmeren, Johan T den Dunnen, Josephine C Dorsman, GertJan B van Ommen

Journal:

BMC Molecular Biology

Year:

2008

Language:

english

File:

PDF, 757 KB

english, 2008

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