Search details
1.
Autosomal dominant in cis D4Z4 repeat array duplication alleles in facioscapulohumeral dystrophy.
Brain
; 147(2): 414-426, 2024 02 01.
Article
in English
| MEDLINE | ID: mdl-37703328
2.
High-resolution breakpoint junction mapping of proximally extended D4Z4 deletions in FSHD1 reveals evidence for a founder effect.
Hum Mol Genet
; 31(5): 748-760, 2022 03 03.
Article
in English
| MEDLINE | ID: mdl-34559225
3.
Best practice guidelines on genetic diagnostics of facioscapulohumeral muscular dystrophy: Update of the 2012 guidelines.
Clin Genet
; 106(1): 13-26, 2024 Jul.
Article
in English
| MEDLINE | ID: mdl-38685133
4.
Facioscapulohumeral muscular dystrophy-Reproductive counseling, pregnancy, and delivery in a complex multigenetic disease.
Clin Genet
; 101(2): 149-160, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34297364
5.
Genotype-phenotype correlations for pancreatic cancer risk in Dutch melanoma families with pathogenic CDKN2A variants.
J Med Genet
; 58(4): 264-269, 2021 04.
Article
in English
| MEDLINE | ID: mdl-32482799
6.
Association between a 46-SNP Polygenic Risk Score and melanoma risk in Dutch patients with familial melanoma.
J Med Genet
; 58(11): 760-766, 2021 11.
Article
in English
| MEDLINE | ID: mdl-32994281
7.
Cis D4Z4 repeat duplications associated with facioscapulohumeral muscular dystrophy type 2.
Hum Mol Genet
; 27(20): 3488-3497, 2018 10 15.
Article
in English
| MEDLINE | ID: mdl-30281091
8.
Intronic SMCHD1 variants in FSHD: testing the potential for CRISPR-Cas9 genome editing.
J Med Genet
; 56(12): 828-837, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31676591
9.
SMCHD1 mutation spectrum for facioscapulohumeral muscular dystrophy type 2 (FSHD2) and Bosma arhinia microphthalmia syndrome (BAMS) reveals disease-specific localisation of variants in the ATPase domain.
J Med Genet
; 56(10): 693-700, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31243061
10.
Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.
Int J Cancer
; 144(10): 2453-2464, 2019 05 15.
Article
in English
| MEDLINE | ID: mdl-30414346
11.
Facioscapulohumeral Dystrophy in Childhood: A Nationwide Natural History Study.
Ann Neurol
; 84(5): 627-637, 2018 11.
Article
in English
| MEDLINE | ID: mdl-30179273
12.
Estimating CDKN2A mutation carrier probability among global familial melanoma cases using GenoMELPREDICT.
J Am Acad Dermatol
; 81(2): 386-394, 2019 Aug.
Article
in English
| MEDLINE | ID: mdl-30731170
13.
CM-Score: a validated scoring system to predict CDKN2A germline mutations in melanoma families from Northern Europe.
J Med Genet
; 55(10): 661-668, 2018 10.
Article
in English
| MEDLINE | ID: mdl-29661971
14.
Fine mapping of genetic susceptibility loci for melanoma reveals a mixture of single variant and multiple variant regions.
Int J Cancer
; 136(6): 1351-60, 2015 Mar 15.
Article
in English
| MEDLINE | ID: mdl-25077817
15.
Clinical implications of incorporating genetic and non-genetic risk factors in CanRisk-based breast cancer risk prediction.
Breast
; 73: 103615, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-38061307
16.
Best practice guidelines for the use of next-generation sequencing applications in genome diagnostics: a national collaborative study of Dutch genome diagnostic laboratories.
Hum Mutat
; 34(10): 1313-21, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-23776008
17.
Indication for CDKN2A-mutation analysis in familial pancreatic cancer families without melanomas.
J Med Genet
; 49(6): 362-5, 2012 Jun.
Article
in English
| MEDLINE | ID: mdl-22636603
18.
Melanocortin 1 receptor (MC1R) variants in high melanoma risk patients are associated with specific dermoscopic ABCD features.
Acta Derm Venereol
; 92(6): 587-92, 2012 Nov.
Article
in English
| MEDLINE | ID: mdl-22965007
19.
Natural History of Facioscapulohumeral Dystrophy in Children: A 2-Year Follow-up.
Neurology
; 97(21): e2103-e2113, 2021 11 23.
Article
in English
| MEDLINE | ID: mdl-34675094
20.
Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner.
Hum Mutat
; 30(6): 899-909, 2009 Jun.
Article
in English
| MEDLINE | ID: mdl-19370767