| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants
|
Smolen, Corrine
|
|
|
110 |
12 |
p. 2015-2028
|
artikel
|
| 2 |
Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome
|
Engal, Eden
|
|
|
110 |
12 |
p. 2112-2119
|
artikel
|
| 3 |
CHARR efficiently estimates contamination from DNA sequencing data
|
Lu, Wenhan
|
|
|
110 |
12 |
p. 2068-2076
|
artikel
|
| 4 |
Efficient in vivo prime editing corrects the most frequent phenylketonuria variant, associated with high unmet medical need
|
Brooks, Dominique L.
|
|
|
110 |
12 |
p. 2003-2014
|
artikel
|
| 5 |
Genomic medicine year in review: 2023
|
Manolio, Teri A.
|
|
|
110 |
12 |
p. 1992-1995
|
artikel
|
| 6 |
H. Eldon Sutton, PhD (1927–2023): A long and full life
|
DuPont, Barbara R.
|
|
|
110 |
12 |
p. 1989-1991
|
artikel
|
| 7 |
Identifying risk variants for embryo aneuploidy using ultra-low coverage whole-genome sequencing from preimplantation genetic testing
|
Sun, Siqi
|
|
|
110 |
12 |
p. 2092-2102
|
artikel
|
| 8 |
Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index
|
Scheller, Ines F.
|
|
|
110 |
12 |
p. 2056-2067
|
artikel
|
| 9 |
Increasing diversity of functional genetics studies to advance biological discovery and human health
|
George, Sophia H.L.
|
|
|
110 |
12 |
p. 1996-2002
|
artikel
|
| 10 |
Inferring disease architecture and predictive ability with LDpred2-auto
|
Privé, Florian
|
|
|
110 |
12 |
p. 2042-2055
|
artikel
|
| 11 |
RAB1A haploinsufficiency phenocopies the 2p14–p15 microdeletion and is associated with impaired neuronal differentiation
|
Rios, Jonathan J.
|
|
|
110 |
12 |
p. 2103-2111
|
artikel
|
| 12 |
The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic results disclosure in diverse families
|
Suckiel, Sabrina A.
|
|
|
110 |
12 |
p. 2029-2041
|
artikel
|
| 13 |
This month in The Journal
|
Barnes, Alyson B.
|
|
|
110 |
12 |
p. 1987-1988
|
artikel
|
| 14 |
Tree-based QTL mapping with expected local genetic relatedness matrices
|
Link, Vivian
|
|
|
110 |
12 |
p. 2077-2091
|
artikel
|
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