| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A complex structural variant near SOX3 causes X-linked split-hand/foot malformation
|
de Boer, Elke
|
|
|
4 |
3 |
p.
|
artikel
|
| 2 |
Admixture mapping implicates 13q33.3 as ancestry-of-origin locus for Alzheimer disease in Hispanic and Latino populations
|
Horimoto, Andrea R.V.R.
|
|
|
4 |
3 |
p.
|
artikel
|
| 3 |
A pathogenic variant in the uncharacterized RNF212B gene results in severe aneuploidy male infertility and repeated IVF failure
|
Gershoni, Moran
|
|
|
4 |
3 |
p.
|
artikel
|
| 4 |
A Polynesian-specific missense CETP variant alters the lipid profile
|
Moors, Jaye
|
|
|
4 |
3 |
p.
|
artikel
|
| 5 |
Artificial intelligence-driven pan-cancer analysis reveals miRNA signatures for cancer stage prediction
|
Yerukala Sathipati, Srinivasulu
|
|
|
4 |
3 |
p.
|
artikel
|
| 6 |
Beyond borders: A commentary on the benefit of promoting immigrant populations in genome-wide association studies
|
Fernández-Rhodes, Lindsay
|
|
|
4 |
3 |
p.
|
artikel
|
| 7 |
Bridging the diversity gap: Analytical and study design considerations for improving the accuracy of trans-ancestry genetic prediction
|
Bocher, Ozvan
|
|
|
4 |
3 |
p.
|
artikel
|
| 8 |
Challenges in screening for de novo noncoding variants contributing to genetically complex phenotypes
|
Castro, Christopher P.
|
|
|
4 |
3 |
p.
|
artikel
|
| 9 |
Cloud-based biomedical data storage and analysis for genomic research: Landscape analysis of data governance in emerging NIH-supported platforms
|
Dahlquist, Jacklyn M.
|
|
|
4 |
3 |
p.
|
artikel
|
| 10 |
De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder
|
Werren, Elizabeth A.
|
|
|
4 |
3 |
p.
|
artikel
|
| 11 |
Deoxyhypusine synthase mutations alter the post-translational modification of eukaryotic initiation factor 5A resulting in impaired human and mouse neural homeostasis
|
Padgett, Leah R.
|
|
|
4 |
3 |
p.
|
artikel
|
| 12 |
Eight fingers and eight toes
|
Jorde, Debbie
|
|
|
4 |
3 |
p.
|
artikel
|
| 13 |
Exome-wide analysis reveals role of LRP1 and additional novel loci in cognition
|
Chakraborty, Shreya
|
|
|
4 |
3 |
p.
|
artikel
|
| 14 |
Gene, cell type, and drug prioritization analysis suggest genetic basis for the utility of diuretics in treating Alzheimer disease
|
Pinakhina, Daria
|
|
|
4 |
3 |
p.
|
artikel
|
| 15 |
Genetic and clinical determinants of telomere length
|
Allaire, Patrick
|
|
|
4 |
3 |
p.
|
artikel
|
| 16 |
Haplotyping SNPs for allele-specific gene editing of the expanded huntingtin allele using long-read sequencing
|
Fang, Li
|
|
|
4 |
3 |
p.
|
artikel
|
| 17 |
Multivariate extension of penalized regression on summary statistics to construct polygenic risk scores for correlated traits
|
Bahda, Meriem
|
|
|
4 |
3 |
p.
|
artikel
|
| 18 |
Rare variant enrichment analysis supports GREB1L as a contributory driver gene in the etiology of Mayer-Rokitansky-Küster-Hauser syndrome
|
Jolly, Angad
|
|
|
4 |
3 |
p.
|
artikel
|
| 19 |
The genetic and phenotypic correlates of mtDNA copy number in a multi-ancestry cohort
|
Zaidi, Arslan A.
|
|
|
4 |
3 |
p.
|
artikel
|
| 20 |
The mitochondrial genome as a modifier of autism versus cancer phenotypes in PTEN hamartoma tumor syndrome
|
Wei, Ruipeng
|
|
|
4 |
3 |
p.
|
artikel
|
| 21 |
Transcriptome-wide association study identifies novel candidate susceptibility genes for migraine
|
Meyers, Travis J.
|
|
|
4 |
3 |
p.
|
artikel
|
| 22 |
Using GWAS summary data to impute traits for genotyped individuals
|
Ren, Jingchen
|
|
|
4 |
3 |
p.
|
artikel
|
| 23 |
Variants in ACTC1 underlie distal arthrogryposis accompanied by congenital heart defects
|
Chong, Jessica X.
|
|
|
4 |
3 |
p.
|
artikel
|
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