| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome
|
Jiang, Connie
|
|
|
109 |
7 |
p. 1199-1207
|
artikel
|
| 2 |
A massively parallel assay accurately discriminates between functionally normal and abnormal variants in a hotspot domain of KCNH2
|
Ng, Chai-Ann
|
|
|
109 |
7 |
p. 1208-1216
|
artikel
|
| 3 |
An epigenome-wide view of osteoarthritis in primary tissues
|
Kreitmaier, Peter
|
|
|
109 |
7 |
p. 1255-1271
|
artikel
|
| 4 |
A spectrum of recessiveness among Mendelian disease variants in UK Biobank
|
Barton, Alison R.
|
|
|
109 |
7 |
p. 1298-1307
|
artikel
|
| 5 |
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study
|
van Prooyen Schuurman, Lisanne
|
|
|
109 |
7 |
p. 1344
|
artikel
|
| 6 |
C. Thomas Caskey, M.D. (1938–2022): A remembrance
|
Beaudet, Arthur L.
|
|
|
109 |
7 |
p. 1185-1189
|
artikel
|
| 7 |
Digital health-enabled genomics: Opportunities and challenges
|
Bombard, Yvonne
|
|
|
109 |
7 |
p. 1190-1198
|
artikel
|
| 8 |
Genetic interactions drive heterogeneity in causal variant effect sizes for gene expression and complex traits
|
Patel, Roshni A.
|
|
|
109 |
7 |
p. 1286-1297
|
artikel
|
| 9 |
Homozygous mutations in C14orf39/SIX6OS1 cause non-obstructive azoospermia and premature ovarian insufficiency in humans
|
Fan, Suixing
|
|
|
109 |
7 |
p. 1343
|
artikel
|
| 10 |
Identification and functional evaluation of GRIA1 missense and truncation variants in individuals with ID: An emerging neurodevelopmental syndrome
|
Ismail, Vardha
|
|
|
109 |
7 |
p. 1217-1241
|
artikel
|
| 11 |
Inherited HTT CAG repeat length does not have a major impact on Huntington disease duration
|
Lee, Jong-Min
|
|
|
109 |
7 |
p. 1338-1340
|
artikel
|
| 12 |
Investigating the shared genetic architecture of uterine leiomyoma and breast cancer: A genome-wide cross-trait analysis
|
Wu, Xueyao
|
|
|
109 |
7 |
p. 1272-1285
|
artikel
|
| 13 |
Leveraging the local genetic structure for trans-ancestry association mapping
|
Xiao, Jiashun
|
|
|
109 |
7 |
p. 1317-1337
|
artikel
|
| 14 |
Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population
|
Kingdom, Rebecca
|
|
|
109 |
7 |
p. 1308-1316
|
artikel
|
| 15 |
Response to Lee et al.
|
Langbehn, Douglas R.
|
|
|
109 |
7 |
p. 1341-1342
|
artikel
|
| 16 |
The impact of anorexia nervosa and BMI polygenic risk on childhood growth: A 20-year longitudinal population-based study
|
Abdulkadir, Mohamed
|
|
|
109 |
7 |
p. 1242-1254
|
artikel
|
| 17 |
This month in The Journal
|
Spencer, Kylee L.
|
|
|
109 |
7 |
p. 1183-1184
|
artikel
|
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