| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project
|
Green, Robert C.
|
|
|
110 |
7 |
p. 1034-1045
|
artikel
|
| 2 |
Approaches to studying the impact of 22q11.2 copy number variants
|
Bassett, Anne S.
|
|
|
110 |
7 |
p. 1216-1218
|
artikel
|
| 3 |
Autoimmune alleles at the major histocompatibility locus modify melanoma susceptibility
|
Talwar, James V.
|
|
|
110 |
7 |
p. 1138-1161
|
artikel
|
| 4 |
CGG repeat expansion in LRP12 in amyotrophic lateral sclerosis
|
Kume, Kodai
|
|
|
110 |
7 |
p. 1086-1097
|
artikel
|
| 5 |
Epilepsies of presumed genetic etiology show enrichment of rare variants that occur in the general population
|
Bundalian, Linnaeus
|
|
|
110 |
7 |
p. 1110-1122
|
artikel
|
| 6 |
Evaluating approaches for constructing polygenic risk scores for prostate cancer in men of African and European ancestry
|
Darst, Burcu F.
|
|
|
110 |
7 |
p. 1200-1206
|
artikel
|
| 7 |
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias
|
Cunha, Paulina
|
|
|
110 |
7 |
p. 1098-1109
|
artikel
|
| 8 |
Haplotype-based analysis resolves missing heritability in oculocutaneous albinism type 1B
|
Loftus, Stacie K.
|
|
|
110 |
7 |
p. 1123-1137
|
artikel
|
| 9 |
High-throughput identification of regulatory elements and functional assays to uncover susceptibility genes for nasopharyngeal carcinoma
|
Wang, Tong-Min
|
|
|
110 |
7 |
p. 1162-1176
|
artikel
|
| 10 |
Implications of family history and polygenic risk scores for causation
|
Li, Shuai
|
|
|
110 |
7 |
p. 1221-1223
|
artikel
|
| 11 |
Multi-response Mendelian randomization: Identification of shared and distinct exposures for multimorbidity and multiple related disease outcomes
|
Zuber, Verena
|
|
|
110 |
7 |
p. 1177-1199
|
artikel
|
| 12 |
Null and missense mutations of ERI1 cause a recessive phenotypic dichotomy in humans
|
Guo, Long
|
|
|
110 |
7 |
p. 1068-1085
|
artikel
|
| 13 |
Polygenic risk prediction: why and when out-of-sample prediction R2 can exceed SNP-based heritability
|
Wang, Xiaotong
|
|
|
110 |
7 |
p. 1207-1215
|
artikel
|
| 14 |
Response to Bassett et al.
|
Zamariolli, Malú
|
|
|
110 |
7 |
p. 1219-1220
|
artikel
|
| 15 |
Response to Li and Hopper
|
Mars, Nina
|
|
|
110 |
7 |
p. 1224-1225
|
artikel
|
| 16 |
Studying the impact of translational genomic research: Lessons from eMERGE
|
Clayton, Ellen Wright
|
|
|
110 |
7 |
p. 1021-1033
|
artikel
|
| 17 |
This month in The Journal
|
Spencer, Kylee L.
|
|
|
110 |
7 |
p. 1019-1020
|
artikel
|
| 18 |
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup
|
Walker, Logan C.
|
|
|
110 |
7 |
p. 1046-1067
|
artikel
|
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