Search details
1.
Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects.
Clin Genet
; 101(1): 127-133, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34612517
2.
Couple-based expanded carrier screening provided by general practitioners to couples in the Dutch general population: psychological outcomes and reproductive intentions.
Genet Med
; 23(9): 1761-1768, 2021 09.
Article
in English
| MEDLINE | ID: mdl-34112999
3.
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing data.
Hum Mutat
; 40(12): 2230-2238, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31433103
4.
Toward an effective exome-based genetic testing strategy in pediatric dilated cardiomyopathy.
Genet Med
; 20(11): 1374-1386, 2018 11.
Article
in English
| MEDLINE | ID: mdl-29517769
5.
Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Am J Hum Genet
; 92(2): 210-20, 2013 Feb 07.
Article
in English
| MEDLINE | ID: mdl-23332918
6.
Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization.
Hum Mutat
; 36(7): 712-9, 2015 Jul.
Article
in English
| MEDLINE | ID: mdl-25871441
7.
Fanconi anaemia presenting as acute myeloid leukaemia and myelodysplastic syndrome in adulthood: a family report on co-occurring FANCC and CHEK2 mutations.
Br J Haematol
; 184(6): 1071-1073, 2019 03.
Article
in English
| MEDLINE | ID: mdl-29767408
8.
Testing for post-copulatory selection for major histocompatibility complex genotype in a semi-free-ranging primate population.
Am J Primatol
; 75(10): 1021-31, 2013 Oct.
Article
in English
| MEDLINE | ID: mdl-23677678
9.
Odour signals major histocompatibility complex genotype in an Old World monkey.
Proc Biol Sci
; 278(1703): 274-80, 2011 Jan 22.
Article
in English
| MEDLINE | ID: mdl-20685707
10.
Strategies in Rapid Genetic Diagnostics of Critically Ill Children: Experiences From a Dutch University Hospital.
Front Pediatr
; 9: 600556, 2021.
Article
in English
| MEDLINE | ID: mdl-34136434
11.
Multisite Evaluation and Validation of a Sensitive Diagnostic and Screening System for Spinal Muscular Atrophy that Reports SMN1 and SMN2 Copy Number, along with Disease Modifier and Gene Duplication Variants.
J Mol Diagn
; 23(6): 753-764, 2021 06.
Article
in English
| MEDLINE | ID: mdl-33798739
12.
National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies.
Eur J Hum Genet
; 29(1): 20-28, 2021 01.
Article
in English
| MEDLINE | ID: mdl-32733070
13.
Implementation of Early Next-Generation Sequencing for Inborn Errors of Immunity: A Prospective Observational Cohort Study of Diagnostic Yield and Clinical Implications in Dutch Genome Diagnostic Centers.
Front Immunol
; 12: 780134, 2021.
Article
in English
| MEDLINE | ID: mdl-34992599
14.
A pipeline-friendly software tool for genome diagnostics to prioritize genes by matching patient symptoms to literature.
Adv Genet (Hoboken)
; 1(1): e10023, 2020 Dec.
Article
in English
| MEDLINE | ID: mdl-36619248
15.
GP-provided couple-based expanded preconception carrier screening in the Dutch general population: who accepts the test-offer and why?
Eur J Hum Genet
; 28(2): 182-192, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31570785
16.
Feasibility of couple-based expanded carrier screening offered by general practitioners.
Eur J Hum Genet
; 27(5): 691-700, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30742054
17.
Improving the diagnostic yield of exome- sequencing by predicting gene-phenotype associations using large-scale gene expression analysis.
Nat Commun
; 10(1): 2837, 2019 06 28.
Article
in English
| MEDLINE | ID: mdl-31253775
18.
The role of TBX18 in congenital heart defects in humans not confirmed.
Eur J Hum Genet
; 31(2): 138-141, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36418409
19.
GAVIN: Gene-Aware Variant INterpretation for medical sequencing.
Genome Biol
; 18(1): 6, 2017 01 16.
Article
in English
| MEDLINE | ID: mdl-28093075
20.
Rapid Targeted Genomics in Critically Ill Newborns.
Pediatrics
; 140(4)2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28939701