| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A corpus of GA4GH phenopackets: Case-level phenotyping for genomic diagnostics and discovery
|
Danis, Daniel
|
|
|
6 |
1 |
p.
|
artikel
|
| 2 |
Advancements in genetic research by the Hispanic Community Health Study/Study of Latinos: A 10-year retrospective review
|
Rao, Hridya
|
|
|
6 |
1 |
p.
|
artikel
|
| 3 |
A multi-ancestry genome-wide association study identifies novel candidate loci in the RARB gene associated with hypertensive disorders of pregnancy
|
Mack, Jasmine A.
|
|
|
6 |
1 |
p.
|
artikel
|
| 4 |
An ADPRS variant disrupts ARH3 stability and subcellular localization in children with neurodegeneration and respiratory failure
|
Bannister, Maxwell
|
|
|
6 |
1 |
p.
|
artikel
|
| 5 |
A phenome-wide association study of polygenic scores for selected childhood cancer: Results from the UK Biobank
|
Jung, Eun Mi
|
|
|
6 |
1 |
p.
|
artikel
|
| 6 |
Chronic overlapping pain conditions and nociplastic pain
|
Johnston, Keira J.A.
|
|
|
6 |
1 |
p.
|
artikel
|
| 7 |
Comparison of methods for building polygenic scores for diverse populations
|
Gunn, Sophia
|
|
|
6 |
1 |
p.
|
artikel
|
| 8 |
CUL3-related neurodevelopmental disorder: Clinical phenotype of 20 new individuals and identification of a potential phenotype-associated episignature
|
van der Laan, Liselot
|
|
|
6 |
1 |
p.
|
artikel
|
| 9 |
Differential inclusion of NEB exons 143 and 144 provides insight into NEB-related myopathy variant interpretation and disease manifestation
|
Silverstein, Sarah
|
|
|
6 |
1 |
p.
|
artikel
|
| 10 |
Epileptic encephalopathy linked to a DALRD3 missense variant that impairs tRNA modification
|
Zhang, Kejia
|
|
|
6 |
1 |
p.
|
artikel
|
| 11 |
Exonic splice variant discovery using in vitro models of inherited retinal disease
|
Mullin, Nathaniel K.
|
|
|
6 |
1 |
p.
|
artikel
|
| 12 |
Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndrome
|
Ramadesikan, Swetha
|
|
|
6 |
1 |
p.
|
artikel
|
| 13 |
Functional characterization of QT interval associated SCN5A enhancer variants identify combined additive effects
|
Gunamalai, Lavanya
|
|
|
6 |
1 |
p.
|
artikel
|
| 14 |
Functional genomics implicates natural killer cells in the pathogenesis of ankylosing spondylitis
|
Chiñas, Marcos
|
|
|
6 |
1 |
p.
|
artikel
|
| 15 |
Genome-wide association study reveals shared and distinct genetic architecture of fatty acids and oxylipins in the Hispanic Community Health Study/Study of Latinos
|
Downie, Carolina G.
|
|
|
6 |
1 |
p.
|
artikel
|
| 16 |
Germline de novo alterations of RUNX1T1 in individuals with neurodevelopmental and congenital anomalies
|
Aref-Eshghi, Erfan
|
|
|
6 |
1 |
p.
|
artikel
|
| 17 |
HCV- and HBV-mediated liver cancer converge on similar transcriptomic landscapes and immune profiles
|
Borden, Elizabeth S.
|
|
|
6 |
1 |
p.
|
artikel
|
| 18 |
Large-scale brainstem neuroimaging and genetic analyses provide new insights into the neuronal mechanisms of hypertension
|
Gurholt, Tiril P.
|
|
|
6 |
1 |
p.
|
artikel
|
| 19 |
LSM7 variants involving key amino acids for LSM complex function cause a neurodevelopmental disorder with leukodystrophy and cerebellar atrophy
|
Crespin, Matis
|
|
|
6 |
1 |
p.
|
artikel
|
| 20 |
MGA-related syndrome: A proposed novel disorder
|
McGivern, Bobbi
|
|
|
6 |
1 |
p.
|
artikel
|
| 21 |
Phenotypic findings associated with variation in elastin
|
Justice, Anne
|
|
|
6 |
1 |
p.
|
artikel
|
| 22 |
Polygenic scores and social determinants of health: Their correlations and potential biases
|
Schaid, Daniel J.
|
|
|
6 |
1 |
p.
|
artikel
|
| 23 |
Proteome-wide association studies for blood lipids and comparison with transcriptome-wide association studies
|
Zhang, Daiwei
|
|
|
6 |
1 |
p.
|
artikel
|
| 24 |
RLIM-specific activity reporters define variant pathogenicity in Tonne-Kalscheuer syndrome
|
Bandi, Venkateshwarlu
|
|
|
6 |
1 |
p.
|
artikel
|
| 25 |
Togaram1 is expressed in the neural tube and its absence causes neural tube closure defects
|
Wang, Yanyan
|
|
|
6 |
1 |
p.
|
artikel
|
| 26 |
Variants in the β-globin locus are associated with pneumonia in African American children
|
Halligan, Nadine L.N.
|
|
|
6 |
1 |
p.
|
artikel
|
| 27 |
Whole-exome sequencing reveals known and candidate genes for hearing impairment in Mali
|
Yalcouyé, Abdoulaye
|
|
|
6 |
1 |
p.
|
artikel
|
Tijdschrift beschrijving