| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Addressing the challenges of polygenic scores in human genetic research
|
Novembre, John
|
|
|
109 |
12 |
p. 2095-2100
|
artikel
|
| 2 |
A minimal role for synonymous variation in human disease
|
Dhindsa, Ryan S.
|
|
|
109 |
12 |
p. 2105-2109
|
artikel
|
| 3 |
A recurrent de novo splice site variant involving DNM1 exon 10a causes developmental and epileptic encephalopathy through a dominant-negative mechanism
|
Parthasarathy, Shridhar
|
|
|
109 |
12 |
p. 2253-2269
|
artikel
|
| 4 |
A scoping review of guidelines for the use of race, ethnicity, and ancestry reveals widespread consensus but also points of ongoing disagreement
|
Mauro, Madelyn
|
|
|
109 |
12 |
p. 2110-2125
|
artikel
|
| 5 |
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
|
Pejaver, Vikas
|
|
|
109 |
12 |
p. 2163-2177
|
artikel
|
| 6 |
Consequences of chromosome gain: A new view on trisomy syndromes
|
Krivega, Maria
|
|
|
109 |
12 |
p. 2126-2140
|
artikel
|
| 7 |
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis
|
Adamo, Christin S.
|
|
|
109 |
12 |
p. 2230-2252
|
artikel
|
| 8 |
Estimating the genome-wide mutation rate from thousands of unrelated individuals
|
Tian, Xiaowen
|
|
|
109 |
12 |
p. 2178-2184
|
artikel
|
| 9 |
Functional characterization of 5p15.33 risk locus in uveal melanoma reveals rs452384 as a functional variant and NKX2.4 as an allele-specific interactor
|
Derrien, Anne-Céline
|
|
|
109 |
12 |
p. 2196-2209
|
artikel
|
| 10 |
Genome- and transcriptome-wide association studies of 386,000 Asian and European-ancestry women provide new insights into breast cancer genetics
|
Jia, Guochong
|
|
|
109 |
12 |
p. 2185-2195
|
artikel
|
| 11 |
Genomic Medicine Year in Review: 2022
|
Manolio, Teri A.
|
|
|
109 |
12 |
p. 2101-2104
|
artikel
|
| 12 |
Massively parallel reporter assays and variant scoring identified functional variants and target genes for melanoma loci and highlighted cell-type specificity
|
Long, Erping
|
|
|
109 |
12 |
p. 2210-2229
|
artikel
|
| 13 |
Systematic comparison of family history and polygenic risk across 24 common diseases
|
Mars, Nina
|
|
|
109 |
12 |
p. 2152-2162
|
artikel
|
| 14 |
TCEAL1 loss-of-function results in an X-linked dominant neurodevelopmental syndrome and drives the neurological disease trait in Xq22.2 deletions
|
Hijazi, Hadia
|
|
|
109 |
12 |
p. 2270-2282
|
artikel
|
| 15 |
This month in The Journal
|
Spencer, Kylee L.
|
|
|
109 |
12 |
p. 2093-2094
|
artikel
|
| 16 |
Understanding changes in genetic literacy over time and in genetic research participants
|
Little, India D.
|
|
|
109 |
12 |
p. 2141-2151
|
artikel
|
Tijdschrift beschrijving