| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results
|
Kerr, Shona M.
|
|
|
112 |
4 |
p. 793-807
|
artikel
|
| 2 |
An evolving understanding of multiple causal variants underlying genetic association signals
|
Long, Erping
|
|
|
112 |
4 |
p. 741-750
|
artikel
|
| 3 |
Artificial variables help to avoid over-clustering in single-cell RNA sequencing
|
DenAdel, Alan
|
|
|
112 |
4 |
p. 940-951
|
artikel
|
| 4 |
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations
|
Guillouet, Charlotte
|
|
|
112 |
4 |
p. 829-845
|
artikel
|
| 5 |
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency
|
Thomas, Huw B.
|
|
|
112 |
4 |
p. 952-962
|
artikel
|
| 6 |
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
|
Kaminska, Karolina
|
|
|
112 |
4 |
p. 808-828
|
artikel
|
| 7 |
Clinical validation of RNA sequencing for Mendelian disorder diagnostics
|
Zhao, Sen
|
|
|
112 |
4 |
p. 779-792
|
artikel
|
| 8 |
Data-driven insights to inform splice-altering variant assessment
|
Sullivan, Patricia J.
|
|
|
112 |
4 |
p. 764-778
|
artikel
|
| 9 |
De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms
|
Bereshneh, Ali H.
|
|
|
112 |
4 |
p. 846-862
|
artikel
|
| 10 |
Human leukocyte antigen variation is associated with cytomegalovirus serostatus in healthy individuals
|
Boquett, Juliano A.
|
|
|
112 |
4 |
p. 913-926
|
artikel
|
| 11 |
Identifying deleterious noncoding variation through gain and loss of CTCF binding activity
|
Tubbs, Colby
|
|
|
112 |
4 |
p. 892-902
|
artikel
|
| 12 |
Multiple origins and phenotypic implications of an extended human pseudoautosomal region shown by analysis of the UK Biobank
|
Poriswanish, Nitikorn
|
|
|
112 |
4 |
p. 927-939
|
artikel
|
| 13 |
Opportunities and challenges of local ancestry in genetic association analyses
|
Sun, Quan
|
|
|
112 |
4 |
p. 727-740
|
artikel
|
| 14 |
Single-cell analyses reveal increased gene expression variability in human neurodevelopmental conditions
|
Upadhya, Suraj
|
|
|
112 |
4 |
p. 876-891
|
artikel
|
| 15 |
Somatic mutations in arteriovenous malformations in hereditary hemorrhagic telangiectasia support a bi-allelic two-hit mutation mechanism of pathogenesis
|
DeBose-Scarlett, Evon
|
|
|
112 |
4 |
p. 963
|
artikel
|
| 16 |
The contribution of coding variants to the heritability of multiple cancer types using UK Biobank whole-exome sequencing data
|
Wilcox, Naomi
|
|
|
112 |
4 |
p. 903-912
|
artikel
|
| 17 |
The expanding global genomics landscape: Converging priorities from national genomics programs
|
Howley, Caitlin
|
|
|
112 |
4 |
p. 751-763
|
artikel
|
| 18 |
This month in The Journal
|
Barnes, Alyson B.
|
|
|
112 |
4 |
p. 725-726
|
artikel
|
| 19 |
Variability in proliferative and migratory defects in Hirschsprung disease-associated RET pathogenic variants
|
Fries, Lauren E.
|
|
|
112 |
4 |
p. 863-875
|
artikel
|
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