Search details
1.
CAG Repeat Size Influences the Progression Rate of Spinocerebellar Ataxia Type 3.
Ann Neurol
; 89(1): 66-73, 2021 01.
Article
in English
| MEDLINE | ID: mdl-32978817
2.
Sensitive Monogenic Noninvasive Prenatal Diagnosis by Targeted Haplotyping.
Am J Hum Genet
; 101(3): 326-339, 2017 Sep 07.
Article
in English
| MEDLINE | ID: mdl-28844486
3.
NIPTeR: an R package for fast and accurate trisomy prediction in non-invasive prenatal testing.
BMC Bioinformatics
; 19(1): 531, 2018 Dec 17.
Article
in English
| MEDLINE | ID: mdl-30558531
4.
PLS3 mutations in X-linked osteoporosis with fractures.
N Engl J Med
; 369(16): 1529-36, 2013 Oct 17.
Article
in English
| MEDLINE | ID: mdl-24088043
5.
Unraveling the regulatory mechanisms underlying tissue-dependent genetic variation of gene expression.
PLoS Genet
; 8(1): e1002431, 2012 Jan.
Article
in English
| MEDLINE | ID: mdl-22275870
6.
Contribution of rare and common variants determine complex diseases-Hirschsprung disease as a model.
Dev Biol
; 382(1): 320-9, 2013 Oct 01.
Article
in English
| MEDLINE | ID: mdl-23707863
7.
Trans-eQTLs reveal that independent genetic variants associated with a complex phenotype converge on intermediate genes, with a major role for the HLA.
PLoS Genet
; 7(8): e1002197, 2011 Aug.
Article
in English
| MEDLINE | ID: mdl-21829388
8.
CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.
Gastroenterology
; 142(3): 453-462.e3, 2012 Mar.
Article
in English
| MEDLINE | ID: mdl-22155368
9.
Periconceptional folic acid associated with an increased risk of oral clefts relative to non-folate related malformations in the Northern Netherlands: a population based case-control study.
Eur J Epidemiol
; 28(11): 875-87, 2013 Nov.
Article
in English
| MEDLINE | ID: mdl-24092049
10.
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (DSP) Truncating Variant.
Circ Genom Precis Med
; 16(1): e003672, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36580316
11.
MixupMapper: correcting sample mix-ups in genome-wide datasets increases power to detect small genetic effects.
Bioinformatics
; 27(15): 2104-11, 2011 Aug 01.
Article
in English
| MEDLINE | ID: mdl-21653519
12.
A haplotype sharing method for determining the relative age of SNP alleles.
Hum Hered
; 69(1): 52-9, 2010.
Article
in English
| MEDLINE | ID: mdl-19797909
13.
Current smoking-specific gene expression signature in normal bronchial epithelium is enhanced in squamous cell lung cancer.
J Pathol
; 218(2): 182-91, 2009 Jun.
Article
in English
| MEDLINE | ID: mdl-19334046
14.
Survival-related profile, pathways, and transcription factors in ovarian cancer.
PLoS Med
; 6(2): e24, 2009 Feb 03.
Article
in English
| MEDLINE | ID: mdl-19192944
15.
Serum chemokine levels in Hodgkin lymphoma patients: highly increased levels of CCL17 and CCL22.
Br J Haematol
; 140(5): 527-36, 2008 Mar.
Article
in English
| MEDLINE | ID: mdl-18275430
16.
A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa.
PLoS One
; 13(2): e0192994, 2018.
Article
in English
| MEDLINE | ID: mdl-29470523
17.
Microarray amplification bias: loss of 30% differentially expressed genes due to long probe - poly(A)-tail distances.
BMC Genomics
; 8: 277, 2007 Aug 15.
Article
in English
| MEDLINE | ID: mdl-17697374
18.
Catechol-o-methyltransferase polymorphism and susceptibility to major depressive disorder modulates psychological stress response.
Psychiatr Genet
; 17(3): 183-93, 2007 Jun.
Article
in English
| MEDLINE | ID: mdl-17417063
19.
Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation.
Circ Cardiovasc Genet
; 10(4)2017 Aug.
Article
in English
| MEDLINE | ID: mdl-28790152
20.
A biological question and a balanced (orthogonal) design: the ingredients to efficiently analyze two-color microarrays with Confirmatory Factor Analysis.
BMC Genomics
; 7: 232, 2006 Sep 12.
Article
in English
| MEDLINE | ID: mdl-16968534