| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
An abdominal obesity missense variant in the adipocyte thermogenesis gene TBX15 is implicated in adaptation to cold in Finns
|
Deal, Milena
|
|
|
111 |
11 |
p. 2542-2560
|
artikel
|
| 2 |
Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants
|
Qiao, Lu
|
|
|
111 |
11 |
p. 2362-2381
|
artikel
|
| 3 |
Cross-ancestry analysis of brain QTLs enhances interpretation of schizophrenia genome-wide association studies
|
Chen, Yu
|
|
|
111 |
11 |
p. 2444-2457
|
artikel
|
| 4 |
Disentangling mechanisms behind the pleiotropic effects of proximal 16p11.2 BP4-5 CNVs
|
Auwerx, Chiara
|
|
|
111 |
11 |
p. 2347-2361
|
artikel
|
| 5 |
Genetic liability estimated from large-scale family data improves genetic prediction, risk score profiling, and gene mapping for major depression
|
Dybdahl Krebs, Morten
|
|
|
111 |
11 |
p. 2494-2509
|
artikel
|
| 6 |
Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia
|
Barish, Scott
|
|
|
111 |
11 |
p. 2566-2581
|
artikel
|
| 7 |
Hypometric genetics: Improved power in genetic discovery by incorporating quality control flags
|
Tanigawa, Yosuke
|
|
|
111 |
11 |
p. 2478-2493
|
artikel
|
| 8 |
Inverse relationship between polygenic risk burden and age of onset of autoimmune vitiligo
|
Roberts, Genevieve H.L.
|
|
|
111 |
11 |
p. 2561-2565
|
artikel
|
| 9 |
Large-scale application of ClinGen-InSiGHT APC-specific ACMG/AMP variant classification criteria leads to substantial reduction in VUS
|
Yin, Xiaoyu
|
|
|
111 |
11 |
p. 2427-2443
|
artikel
|
| 10 |
MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway
|
Gong, Maolei
|
|
|
111 |
11 |
p. 2392-2410
|
artikel
|
| 11 |
Modeling recent positive selection using identity-by-descent segments
|
Temple, Seth D.
|
|
|
111 |
11 |
p. 2510-2529
|
artikel
|
| 12 |
Phenotypic spectrum of dual diagnoses in developmental disorders
|
Ridsdale, Alys M.
|
|
|
111 |
11 |
p. 2382-2391
|
artikel
|
| 13 |
Profiling genetically driven alternative splicing across the Indonesian archipelago
|
Ibeh, Neke
|
|
|
111 |
11 |
p. 2458-2477
|
artikel
|
| 14 |
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline ATM sequence variants
|
Richardson, Marcy E.
|
|
|
111 |
11 |
p. 2411-2426
|
artikel
|
| 15 |
The pleiotropic spectrum of proximal 16p11.2 CNVs
|
Auwerx, Chiara
|
|
|
111 |
11 |
p. 2309-2346
|
artikel
|
| 16 |
This month in The Journal
|
Barnes, Alyson B.
|
|
|
111 |
11 |
p. 2307-2308
|
artikel
|
| 17 |
Where is the boundary of the human pseudoautosomal region?
|
Bellott, Daniel W.
|
|
|
111 |
11 |
p. 2530-2541
|
artikel
|
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