| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Accounting for age of onset and family history improves power in genome-wide association studies
|
Pedersen, Emil M.
|
|
|
109 |
3 |
p. 417-432
|
artikel
|
| 2 |
A functional genomics approach in Tanzanian population identifies distinct genetic regulators of cytokine production compared to European population
|
Boahen, Collins K.
|
|
|
109 |
3 |
p. 471-485
|
artikel
|
| 3 |
2021 Allan Award
|
Caskey, C. Thomas
|
|
|
109 |
3 |
p. 384-386
|
artikel
|
| 4 |
A multi-dimensional integrative scoring framework for predicting functional variants in the human genome
|
Li, Xihao
|
|
|
109 |
3 |
p. 446-456
|
artikel
|
| 5 |
Analysis of missense variants in the human genome reveals widespread gene-specific clustering and improves prediction of pathogenicity
|
Quinodoz, Mathieu
|
|
|
109 |
3 |
p. 457-470
|
artikel
|
| 6 |
2021 ASHG awards and addresses
|
|
|
|
109 |
3 |
p. 379-380
|
artikel
|
| 7 |
2021 ASHG presidential address—Imagination and daring: Past, present, and future
|
Jarvik, Gail P.
|
|
|
109 |
3 |
p. 381-383
|
artikel
|
| 8 |
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity
|
Kurolap, Alina
|
|
|
109 |
3 |
p. 518-532
|
artikel
|
| 9 |
2021 Curt Stern Award: Studying the biology of “junk”
|
Dermitzakis, Emmanouil T.
|
|
|
109 |
3 |
p. 387-389
|
artikel
|
| 10 |
Family secrets: Experiences and outcomes of participating in direct-to-consumer genetic relative-finder services
|
Guerrini, Christi J.
|
|
|
109 |
3 |
p. 486-497
|
artikel
|
| 11 |
GWAS of longitudinal trajectories at biobank scale
|
Ko, Seyoon
|
|
|
109 |
3 |
p. 433-445
|
artikel
|
| 12 |
Leveraging gene co-regulation to identify gene sets enriched for disease heritability
|
Siewert-Rocks, Katherine M.
|
|
|
109 |
3 |
p. 393-404
|
artikel
|
| 13 |
2021 McKusick Leadership Award: Learning from communities
|
Burke, Wylie
|
|
|
109 |
3 |
p. 390-392
|
artikel
|
| 14 |
Monoallelic and bi-allelic variants in NCDN cause neurodevelopmental delay, intellectual disability, and epilepsy
|
Fatima, Ambrin
|
|
|
109 |
3 |
p. 542-546
|
artikel
|
| 15 |
Partitioning gene-mediated disease heritability without eQTLs
|
Weiner, Daniel J.
|
|
|
109 |
3 |
p. 405-416
|
artikel
|
| 16 |
Personalized genetic counseling for Stargardt disease: Offspring risk estimates based on variant severity
|
Cornelis, Stéphanie S.
|
|
|
109 |
3 |
p. 498-507
|
artikel
|
| 17 |
The annual ASHG dinner
|
Leppig, Kathleen A.
|
|
|
109 |
3 |
p. 377-378
|
artikel
|
| 18 |
The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4
|
Yu, Jiaxi
|
|
|
109 |
3 |
p. 533-541
|
artikel
|
| 19 |
This month in The Journal
|
Spencer, Kylee L.
|
|
|
109 |
3 |
p. 375-376
|
artikel
|
| 20 |
Whole-exome sequencing improves the diagnosis and care of men with non-obstructive azoospermia
|
Kherraf, Zine-Eddine
|
|
|
109 |
3 |
p. 508-517
|
artikel
|
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