Skip to Main Content

Author Details

Johan T den Dunnen
Leiden University Medical Center
1982
338
80
Gloria M Sheynkman (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
36696755Hematologically important mutations: Leukocyte adhesion deficiency (second update).Blood Cells Mol Dis2023
33981013Stepwise ABC system for classification of any type of genetic variant.Eur J Hum Genet2022
34750192New locus underlying auriculocondylar syndrome (ARCND): 430 kb duplication involving <i>TWIST1</i> regulatory elements.J Med Genet2022
34837429NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch-Boonstra-Schaaf optic atrophy syndrome.Hum Mutat2022
33252176Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals.Hum Mutat2021
33542429Newborn screening of duchenne muscular dystrophy specifically targeting deletions amenable to exon-skipping therapy.Sci Rep2021
33538839Mutalyzer 2: next generation HGVS nomenclature checker.Bioinformatics2021
35008485Integrating Whole-Genome Sequencing in Clinical Genetics: A Novel Disruptive Structural Rearrangement Identified in the Dystrophin Gene (<i>DMD</i>).Int J Mol Sci2021
34440449A Case Series of Familial <i>ARID1B</i> Variants Illustrating Variable Expression and Suggestions to Update the ACMG Criteria.Genes (Basel)2021
34521998The LOVD3 platform: efficient genome-wide sharing of genetic variants.Eur J Hum Genet2021
34539735The Role of the European Society of Human Genetics in Delivering Genomic Education.Front Genet2021
34354088ACO2 clinicobiological dataset with extensive phenotype ontology annotation.Sci Data2021
33266138Using Personal Genomic Data within Primary Care: A Bioinformatics Approach to Pharmacogenomics.Genes (Basel)2020
31397982Efficient variant data preparation for Human Mutation manuscripts: Variants and phenotypes.Hum Mutat2019
31500643OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database.Orphanet J Rare Dis2019
31356707Phenotype predictions for exon deletions/duplications: A user guide for professionals and clinicians using Becker and Duchenne muscular dystrophy as examples.Hum Mutat2019
31296341Templated Insertions: A Smoking Gun for Polymerase Theta-Mediated End Joining.Trends Genet2019
31433103Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.Hum Mutat2019
27911167Recommendations for a nomenclature system for reporting methylation aberrations in imprinted domains.Epigenetics2018
30055037LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.Hum Mutat2018
29852469Short hypervariable microhaplotypes: A novel set of very short high discriminating power loci without stutter artefacts.Forensic Sci Int Genet2018
30586411BRCA Challenge: BRCA Exchange as a global resource for variants in BRCA1 and BRCA2.PLoS Genet2018
29645308Yet another database?Hum Mutat2018
29777667Properties and units in the clinical laboratory sciences part XXIV. Properties and units in clinical molecular genetics (technical report 2017).Clin Chim Acta2018
29466448A dystrophic Duchenne mouse model for testing human antisense oligonucleotides.PLoS One2018
29598823Full-length mRNA sequencing uncovers a widespread coupling between transcription initiation and mRNA processing.Genome Biol2018
29250858Structural and sequence variants in patients with Silver-Russell syndrome or similar features-Curation of a disease database.Hum Mutat2018
28044389In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases.Hum Mutat2017
28475856International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.Am J Hum Genet2017
28378423Detecting PKD1 variants in polycystic kidney disease patients by single-molecule long-read sequencing.Hum Mutat2017
28471515Critical points for an accurate human genome analysis.Hum Mutat2017
28570578Effect of post-mortem delay on N-terminal huntingtin protein fragments in human control and Huntington disease brain lysates.PLoS One2017
27822869Describing Sequence Variants Using HGVS Nomenclature.Methods Mol Biol2017
27821657The UCL low-density lipoprotein receptor gene variant database: pathogenicity update.J Med Genet2017
28044414Flexible and Scalable Full-Length CYP2D6 Long Amplicon PacBio Sequencing.Hum Mutat2017
26919047The Implicitome: A Resource for Rationalizing Gene-Disease Associations.PLoS One2016
28172869Decay of Sexual Trait Genes in an Asexual Parasitoid Wasp.Genome Biol Evol2016
26479518Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting.Clin Pharmacol Ther2016
27590662A full-body transcriptome and proteome resource for the European common carp.BMC Genomics2016
27499327Deciphering Variability of PKD1 and PKD2 in an Italian Cohort of 643 Patients with Autosomal Dominant Polycystic Kidney Disease (ADPKD).Sci Rep2016
27570071Hypomorphic MKS1 mutation in a Pakistani family with mild Joubert syndrome and atypical features: Expanding the phenotypic spectrum of MKS1-related ciliopathies.Am J Med Genet A2016
27367167Sequence Variant Descriptions: HGVS Nomenclature and Mutalyzer.Curr Protoc Hum Genet2016
26779178The Complete Genome Sequence of the Murine Pathobiont Helicobacter typhlonius.Front Microbiol2016
26931183HGVS Recommendations for the Description of Sequence Variants: 2016 Update.Hum Mutat2016
26919400HGVS Nomenclature in Practice: An Example from the United Kingdom National External Quality Assessment Scheme.Hum Mutat2016
24893805Efficient and sensitive identification and quantification of airborne pollen using next-generation DNA sequencing.Mol Ecol Resour2015
26269248Next-generation sequencing-based genome diagnostics across clinical genetics centers: implementation choices and their effects.Eur J Hum Genet2015
26320104Akkermansia muciniphila and Helicobacter typhlonius modulate intestinal tumor development in mice.Carcinogenesis2015
26295439The Matchmaker Exchange: a platform for rare disease gene discovery.Hum Mutat2015
26450963SplicePie: a novel analytical approach for the detection of alternative, non-sequential and recursive splicing.Nucleic Acids Res2015
  • 1 - 50 of 338

Recommended Authors

Angela Del Pozo
Instituto de Genetica Medica y Molecular (INGEMM), Hospital Universitario La Paz
Career Start Year 2008
Number of shared co-authors 2
Jochen Hecht
The Barcelona Institute of Science and Technology
Career Start Year 2003
Number of shared co-authors 8
Tomasz Zemojtel
Berlin Institute of Health (BIH)
Career Start Year 2001
Number of shared co-authors 20
Alexandre Montpetit
McGill University and Genome Quebec Innovation Centre
Career Start Year 1998
Number of shared co-authors 23
Michael O Dorschner
University of Washington
Career Start Year 1997
Number of shared co-authors 22
Sean McGrath
Harvard T.H. Chan School of Public Health
Career Start Year 1996
Number of shared co-authors 3
Stanley F Nelson
university of california los angeles
Career Start Year 1993
Number of shared co-authors 12
Patrick S Tarpey
Wellcome Trust Sanger Institute
Career Start Year 1992
Number of shared co-authors 18
Marie-Laure Yaspo
Max Planck Institute for Molecular Genetics
Career Start Year 1992
Number of shared co-authors 9
Deanna M Church
Present address: Inscripta Inc.
Career Start Year 1992
Number of shared co-authors 30
Thomas J Hudson
Ontario Institute for Cancer Research
Career Start Year 1991
Number of shared co-authors 44
Stephen W Scherer
The Hospital for Sick Children
Career Start Year 1990
Number of shared co-authors 55
Donna M Muzny
Baylor College of Medicine
Career Start Year 1988
Number of shared co-authors 64
Juha Kere
Folkhalsan Research Center, University of Helsinki
Career Start Year 1987
Number of shared co-authors 22
Ian Dunham
European Bioinformatics Institute (EMBL-EBI)
Career Start Year 1987
Number of shared co-authors 28
Steven E Scherer
Baylor College of Medicine
Career Start Year 1987
Number of shared co-authors 30
Hubert J M Smeets
Maastricht University Medical Centre+
Career Start Year 1987
Number of shared co-authors 6
John D McPherson
Ontario Institute for Cancer Research
Career Start Year 1986
Number of shared co-authors 35
Eric S Lander
Vanderbilt-Ingram Cancer Center, Vanderbilt University
Career Start Year 1986
Number of shared co-authors 43
Jiannis Ragoussis
McGill University
Career Start Year 1986
Number of shared co-authors 14
James C Mullikin
National Human Genome Research Institute, National Institutes of Health
Career Start Year 1985
Number of shared co-authors 45
Eric D Green
National Human Genome Research Institute, National Institutes of Health
Career Start Year 1984
Number of shared co-authors 43
Alessandra Renieri
University of Siena
Career Start Year 1984
Number of shared co-authors 26
Richard K Wilson
The Ohio State University
Career Start Year 1983
Number of shared co-authors 43
Thomas Meitinger
Technical University of Munich, Institute of Human Genetics
Career Start Year 1982
Number of shared co-authors 57
James R Lupski
Baylor College of Medicine
Career Start Year 1981
Number of shared co-authors 50
Michael Dean
National Cancer Institute
Career Start Year 1980
Number of shared co-authors 23
Richard M Myers
HudsonAlpha Institute for Biotechnology
Career Start Year 1980
Number of shared co-authors 38
Francis S Collins
University of Michigan ann arbor
Career Start Year 1978
Number of shared co-authors 57
Asl??han Tolun
Istanbul Technical University
Career Start Year 1974
Number of shared co-authors 4

Collaborators

Gert-Jan B van Ommen
Co-authored papers 126
Peter A C 't Hoen
Radboud University Medical Center
Co-authored papers 44
Yavuz Ariyurek
Co-authored papers 16
Jeroen F J Laros
National Institute for Public Health and the Environment
Co-authored papers 15
Peter E M Taschner
Leiden University Medical Center (LUMC)Leiden
Co-authored papers 11
Mauno Vihinen
Lund University
Co-authored papers 10
Rune R Frants
Co-authored papers 8
Donna R Maglott
National Center for Biotechnology Information, National Institutes of Health
Co-authored papers 8
Kate Bushby
Institute of Genetic Medicine, International Centre for Life
Co-authored papers 7
Arleen D Auerbach
The Rockefeller University
Co-authored papers 7
Anthony J Brookes
University of Leicester
Co-authored papers 7
Josephine C Dorsman
Cancer Center Amsterdam
Co-authored papers 7
David J Burn
Population Health Sciences Institute, Newcastle University
Co-authored papers 6
Barend Mons
Leiden University Medical Center
Co-authored papers 5
Heidi L Rehm
The Broad Institute of MIT and Harvard
Co-authored papers 5
Garry R Cutting
Johns Hopkins University School of Medicine
Co-authored papers 5
Han G Brunner
Maastricht University Medical Centre
Co-authored papers 4
Stylianos E Antonarakis
Co-authored papers 4
Carolyn Sue Richards
Oregon Health & Science University (OHSU)
Co-authored papers 4
Paul Flicek
European Bioinformatics Institute
Co-authored papers 4
Erik M van Mulligen
Erasmus University Medical Center
Co-authored papers 4
Karoly Szuhai
Leiden University Medical Center
Co-authored papers 4
Ben A Oostra
Co-authored papers 4
Dorret I Boomsma
Co-authored papers 4
Matthew E Hurles
Wellcome Sanger Institute
Co-authored papers 3
Martijn J Schuemie
University of California los angeles
Co-authored papers 3
Ada Hamosh
Johns Hopkins University School of Medicine
Co-authored papers 3
Rodney J Scott
Co-authored papers 3
Steven G E Marsh
Anthony Nolan Research Institute, Royal Free Hospital
Co-authored papers 3
Hanns Lochm??ller
Children's Hospital of Eastern Ontario Research Institute
Co-authored papers 3
Release 1.2