| LOVD v. 2.0: the next generation in gene variant databases IFAC Fokkema, PEM Taschner, GCP Schaafsma, J Celli, JFJ Laros, ... Human mutation 32 (5), 557-563, 2011 | 1093 | 2011 |
| Entries in the Leiden Duchenne muscular dystrophy mutation database: an overview of mutation types and paradoxical cases that confirm the reading‐frame rule A Aartsma‐Rus, JCT Van Deutekom, IF Fokkema, GJB Van Ommen, ... Muscle & Nerve: Official Journal of the American Association of …, 2006 | 803 | 2006 |
| Theoretic applicability of antisense‐mediated exon skipping for Duchenne muscular dystrophy mutations A Aartsma‐Rus, I Fokkema, J Verschuuren, I Ginjaar, J Van Deutekom, ... Human mutation 30 (3), 293-299, 2009 | 714 | 2009 |
| LOVD: easy creation of a locus‐specific sequence variation database using an “LSDB‐in‐a‐box” approach IFAC Fokkema, JT den Dunnen, PEM Taschner Human mutation 26 (2), 63-68, 2005 | 311 | 2005 |
| Leiden open variation database of the MUTYH gene AA Out, CMJ Tops, M Nielsen, MM Weiss, IJHM Van Minderhout, ... Human mutation 31 (11), 1205-1215, 2010 | 96 | 2010 |
| The KAT6B‐related disorders genitopatellar syndrome and Ohdo/SBBYS syndrome have distinct clinical features reflecting distinct molecular mechanisms PM Campeau, JT Lu, BC Dawson, IFAC Fokkema, SP Robertson, ... Human mutation 33 (11), 1520-1525, 2012 | 93 | 2012 |
| The LOVD3 platform: efficient genome-wide sharing of genetic variants IFAC Fokkema, M Kroon, JA López Hernández, D Asscheman, ... European Journal of Human Genetics 29 (12), 1796-1803, 2021 | 69 | 2021 |
| Therapeutic exon skipping for dysferlinopathies? A Aartsma-Rus, KHK Singh, IFAC Fokkema, IB Ginjaar, GJ van Ommen, ... European journal of human genetics 18 (8), 889-894, 2010 | 68 | 2010 |
| Assessing the translational landscape of myogenic differentiation by ribosome profiling E de Klerk, IFAC Fokkema, KAMH Thiadens, JJ Goeman, M Palmblad, ... Nucleic acids research 43 (9), 4408-4428, 2015 | 56 | 2015 |
| The Finnish Disease Heritage Database (F in D is) Update—A Database for the Genes Mutated in the Finnish Disease Heritage Brought to the Next‐Generation Sequencing Era A Polvi, H Linturi, T Varilo, AK Anttonen, M Byrne, IFAC Fokkema, ... Human mutation 34 (11), 1458-1466, 2013 | 46 | 2013 |
| Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data IFAC Fokkema, KJ van der Velde, MK Slofstra, CAL Ruivenkamp, ... Human Mutation 40 (12), 2230-2238, 2019 | 34 | 2019 |
| β-Globin mutation detection by tagged single-base extension and hybridization to universal glass and flow-through microarrays CHM Van Moorsel, EE Van Wijngaarden, IFAC Fokkema, JT Den Dunnen, ... European journal of human genetics 12 (7), 567-573, 2004 | 25 | 2004 |
| Ribosome profiling uncovers selective mRNA translation associated with eIF2 phosphorylation in erythroid progenitors NA Paolini, KS Moore, FM Di Summa, IFAC Fokkema, PAC ‘t Hoen, ... PloS one 13 (4), e0193790, 2018 | 20 | 2018 |
| VarioML framework for comprehensive variation data representation and exchange M Byrne, IFAC Fokkema, O Lancaster, T Adamusiak, A Ahonen-Bishopp, ... BMC bioinformatics 13, 1-10, 2012 | 20 | 2012 |
| Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy J Oliveira, I Soares-Silva, I Fokkema, A Gonçalves, A Cabral, L Diogo, ... Journal of human genetics 53 (6), 565-572, 2008 | 19 | 2008 |
| Ribosome profiling uncovers the role of uORFs in translational control of gene expression during erythroblast differentiation KAMH Thiadens, E de Klerk, IFAC Fokkema, P AC’t Hoen, M von Lindern Blood 124 (21), 2658, 2014 | 1 | 2014 |
| Data sharing and gene variant databases JT den Dunnen, IFAC Fokkema Clinical DNA Variant Interpretation, 221-236, 2021 | | 2021 |
| General considerations: terminology and standards IFAC Fokkema, JT den Dunnen Clinical DNA Variant Interpretation, 9-27, 2021 | | 2021 |
| Compound heterozygosity for a frameshift and a missense mutation in the SURF1 gene in a patient without Leigh syndrome E Nibbeling, D Kamphuis, J Knijnenburg, S Bollen, M Laurense-Bik, ... EUROPEAN JOURNAL OF HUMAN GENETICS 27, 312-312, 2019 | | 2019 |
| A recurrent, de novo nonsense mutation in the GRIN2B gene, comparison of the clinical phenotypes MJV Hoffer, EAR Nibbeling, TT Koopmann, S Bollen, MEY Laurense-Bik, ... EUROPEAN JOURNAL OF HUMAN GENETICS 26, 336-336, 2018 | | 2018 |
Annemieke Aartsma-RusHoogleraar translationele genetica, Leids Universitair Medisch Centrum在 lumc.nl 的电子邮件经过验证
