| 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
|
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