| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A computational approach for detecting physiological homogeneity in the midst of genetic heterogeneity
|
Zhang, Peng
|
|
|
108 |
6 |
p. 1012-1025
|
artikel
|
| 2 |
A form of muscular dystrophy associated with pathogenic variants in JAG2
|
Coppens, Sandra
|
|
|
108 |
6 |
p. 1164
|
artikel
|
| 3 |
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8
|
Van Gucht, Ilse
|
|
|
108 |
6 |
p. 1115-1125
|
artikel
|
| 4 |
Altered replication stress response due to CARD14 mutations promotes recombination-induced revertant mosaicism
|
Miyauchi, Toshinari
|
|
|
108 |
6 |
p. 1026-1039
|
artikel
|
| 5 |
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction
|
Ng, Bobby G.
|
|
|
108 |
6 |
p. 1040-1052
|
artikel
|
| 6 |
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder
|
Hengel, Holger
|
|
|
108 |
6 |
p. 1069-1082
|
artikel
|
| 7 |
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
|
Pottie, Lore
|
|
|
108 |
6 |
p. 1095-1114
|
artikel
|
| 8 |
Bi-allelic variants in IPO8 cause a connective tissue disorder associated with cardiovascular defects, skeletal abnormalities, and immune dysregulation
|
Ziegler, Alban
|
|
|
108 |
6 |
p. 1126-1137
|
artikel
|
| 9 |
EPISPOT: An epigenome-driven approach for detecting and interpreting hotspots in molecular QTL studies
|
Ruffieux, Hélène
|
|
|
108 |
6 |
p. 983-1000
|
artikel
|
| 10 |
Evaluation of DNA Methylation Episignatures for Diagnosis and Phenotype Correlations in 42 Mendelian Neurodevelopmental Disorders
|
Aref-Eshghi, Erfan
|
|
|
108 |
6 |
p. 1161-1163
|
artikel
|
| 11 |
Heterozygous ANKRD17 loss-of-function variants cause a syndrome with intellectual disability, speech delay, and dysmorphism
|
Chopra, Maya
|
|
|
108 |
6 |
p. 1138-1150
|
artikel
|
| 12 |
Impaired glucose-1,6-biphosphate production due to bi-allelic PGM2L1 mutations is associated with a neurodevelopmental disorder
|
Morava, Eva
|
|
|
108 |
6 |
p. 1151-1160
|
artikel
|
| 13 |
Leveraging both individual-level genetic data and GWAS summary statistics increases polygenic prediction
|
Albiñana, Clara
|
|
|
108 |
6 |
p. 1001-1011
|
artikel
|
| 14 |
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms
|
Wright, Caroline F.
|
|
|
108 |
6 |
p. 1083-1094
|
artikel
|
| 15 |
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
|
|
|
|
108 |
6 |
p. 965-982
|
artikel
|
| 16 |
This month in The Journal
|
Ratzel, Sarah
|
|
|
108 |
6 |
p. 963-964
|
artikel
|
| 17 |
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
|
Rots, Dmitrijs
|
|
|
108 |
6 |
p. 1053-1068
|
artikel
|
| 18 |
Whole-genome sequencing association analysis of quantitative red blood cell phenotypes: The NHLBI TOPMed program
|
Hu, Yao
|
|
|
108 |
6 |
p. 1165
|
artikel
|
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