nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
1 |
A clustering of heterozygous missense variants in the crucial chromatin modifier WDR5 defines a new neurodevelopmental disorder
|
Snijders Blok, Lot |
|
|
4 |
1 |
p. |
artikel |
2 |
A hypomorphic variant in the translocase of the outer mitochondrial membrane complex subunit TOMM7 causes short stature and developmental delay
|
Young, Cameron |
|
|
4 |
1 |
p. |
artikel |
3 |
Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits—The Hispanic/Latino Anthropometry Consortium
|
Fernández-Rhodes, Lindsay |
|
|
4 |
1 |
p. |
artikel |
4 |
A stop-gain variant in BTNL9 is associated with atherogenic lipid profiles
|
Carlson, Jenna C. |
|
|
4 |
1 |
p. |
artikel |
5 |
Awareness and utilization of genetic testing among Hispanic and Latino adults living in the US: The Hispanic Community Health Study/Study of Latinos
|
Christensen, Kurt D. |
|
|
4 |
1 |
p. |
artikel |
6 |
CFDP1 is a neuroblastoma susceptibility gene that regulates transcription factors of the noradrenergic cell identity
|
Formicola, Daniela |
|
|
4 |
1 |
p. |
artikel |
7 |
Genetic regulation of circular RNA expression in human aortic smooth muscle cells and vascular traits
|
Aherrahrou, Redouane |
|
|
4 |
1 |
p. |
artikel |
8 |
Haplotyping SNPs for allele-specific gene editing of the expanded huntingtin allele using long-read sequencing
|
Fang, Li |
|
|
4 |
1 |
p. |
artikel |
9 |
High-quality read-based phasing of cystic fibrosis cohort informs genetic understanding of disease modification
|
Mastromatteo, Scott |
|
|
4 |
1 |
p. |
artikel |
10 |
IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders
|
Aitken, Stuart |
|
|
4 |
1 |
p. |
artikel |
11 |
Inverted genomic regions between reference genome builds in humans impact imputation accuracy and decrease the power of association testing
|
Sheng, Xin |
|
|
4 |
1 |
p. |
artikel |
12 |
Large 22q13.3 deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome
|
Breen, Michael S. |
|
|
4 |
1 |
p. |
artikel |
13 |
Prioritization of non-coding elements involved in non-syndromic cleft lip with/without cleft palate through genome-wide analysis of de novo mutations
|
Zieger, Hanna K. |
|
|
4 |
1 |
p. |
artikel |
14 |
Structural variants identified using non-Mendelian inheritance patterns advance the mechanistic understanding of autism spectrum disorder
|
Kainer, David |
|
|
4 |
1 |
p. |
artikel |
15 |
Toward reporting standards for the pathogenicity of variant combinations involved in multilocus/oligogenic diseases
|
Papadimitriou, Sofia |
|
|
4 |
1 |
p. |
artikel |
16 |
Unexplained mismatch repair deficiency: Case closed
|
Eikenboom, Ellis L. |
|
|
4 |
1 |
p. |
artikel |
17 |
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology
|
Sobering, Andrew K. |
|
|
4 |
1 |
p. |
artikel |
18 |
Whole-exome sequence analysis of anthropometric traits illustrates challenges in identifying effects of rare genetic variants
|
Young, Kristin L. |
|
|
4 |
1 |
p. |
artikel |
19 |
Whole-exome sequencing in 415,422 individuals identifies rare variants associated with mitochondrial DNA copy number
|
Pillalamarri, Vamsee |
|
|
4 |
1 |
p. |
artikel |