| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
ACMG/AMP interpretation of BRCA1 missense variants: Structure-informed scores add evidence strength granularity to the PP3/BP4 computational evidence
|
Ramadane-Morchadi, Lobna
|
|
|
112 |
5 |
p. 993-1002
|
artikel
|
| 2 |
A non-syndromic orofacial cleft risk locus links tRNA splicing defects to neural crest cell pathologies
|
Bartusel, Michaela
|
|
|
112 |
5 |
p. 1097-1116
|
artikel
|
| 3 |
Bayesian causal graphical model for joint Mendelian randomization analysis of multiple exposures and outcomes
|
Zuber, Verena
|
|
|
112 |
5 |
p. 1173-1198
|
artikel
|
| 4 |
Bi-allelic pathogenic variants in TRMT1 disrupt tRNA modification and induce a neurodevelopmental disorder
|
Efthymiou, Stephanie
|
|
|
112 |
5 |
p. 1117-1138
|
artikel
|
| 5 |
Bi-allelic UGGT1 variants cause a congenital disorder of glycosylation
|
Dardas, Zain
|
|
|
112 |
5 |
p. 1139-1157
|
artikel
|
| 6 |
Characterizing trends in clinical genetic testing: A single-center analysis of EHR data from 1.8 million patients over two decades
|
Bastarache, Lisa
|
|
|
112 |
5 |
p. 1029-1038
|
artikel
|
| 7 |
Computational and functional prioritization identifies genes that rescue behavior and reduce tau protein in fly and human cell models of Alzheimer disease
|
Stephens, Morgan C.
|
|
|
112 |
5 |
p. 1081-1096
|
artikel
|
| 8 |
Consensus guidelines for assessing eligibility of pathogenic DNA variants for antisense oligonucleotide treatments
|
Cheerie, David
|
|
|
112 |
5 |
p. 975-983
|
artikel
|
| 9 |
EndoPRS: Incorporating endophenotype information to improve polygenic risk scores for clinical endpoints—A study in asthma
|
Kharitonova, Elena V.
|
|
|
112 |
5 |
p. 1199-1214
|
artikel
|
| 10 |
FBXO22 deficiency defines a pleiotropic syndrome of growth restriction and multi-system anomalies associated with a unique epigenetic signature
|
Ramakrishna, Navin B.
|
|
|
112 |
5 |
p. 1233-1246
|
artikel
|
| 11 |
Fine-mapping in admixed populations using CARMA-X, with applications to Latin American studies
|
Yang, Zikun
|
|
|
112 |
5 |
p. 1215-1232
|
artikel
|
| 12 |
First steps toward building natural history of diseases computationally: Lessons learned from the Noonan syndrome use case
|
Groza, Tudor
|
|
|
112 |
5 |
p. 1158-1172
|
artikel
|
| 13 |
Increasing the genomic workforce through research capacity building: Designing evaluation plans for maximum impact
|
Roberts, Karyn J.
|
|
|
112 |
5 |
p. 967-974
|
artikel
|
| 14 |
Integration of protein stability and AlphaMissense scores improves bioinformatic impact prediction for p53 missense and in-frame amino acid deletion variants
|
Rotenberg, Nitsan
|
|
|
112 |
5 |
p. 1003-1014
|
artikel
|
| 15 |
Interplay and cooperation between GLI2 and master transcription factors promote progression of esophageal squamous cell carcinoma
|
Liu, Yin-Qiao
|
|
|
112 |
5 |
p. 1039-1061
|
artikel
|
| 16 |
Low-cost generation of clinical-grade, layperson-friendly pharmacogenetic passports using oligonucleotide arrays
|
Lanting, Pauline
|
|
|
112 |
5 |
p. 1015-1028
|
artikel
|
| 17 |
Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction
|
Chan, Rebecca W.Y.
|
|
|
112 |
5 |
p. 1247
|
artikel
|
| 18 |
Rare predicted loss-of-function and damaging missense variants in CFHR5 associate with protection from age-related macular degeneration
|
Holleman, Aaron M.
|
|
|
112 |
5 |
p. 1062-1080
|
artikel
|
| 19 |
Structural biology in variant interpretation: Perspectives and practices from two studies
|
Varga, Matthew J.
|
|
|
112 |
5 |
p. 984-992
|
artikel
|
| 20 |
This month in The Journal
|
Barnes, Alyson B.
|
|
|
112 |
5 |
p. 965-966
|
artikel
|
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