| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A joint transcriptome-wide association study across multiple tissues identifies candidate breast cancer susceptibility genes
|
Gao, Guimin
|
|
|
110 |
6 |
p. 950-962
|
artikel
|
| 2 |
An intronic GAA repeat expansion in FGF14 causes the autosomal-dominant adult-onset ataxia SCA27B/ATX-FGF14
|
Rafehi, Haloom
|
|
|
110 |
6 |
p. 1018
|
artikel
|
| 3 |
Bi-allelic variants in HMGCR cause an autosomal-recessive progressive limb-girdle muscular dystrophy
|
Morales-Rosado, Joel A.
|
|
|
110 |
6 |
p. 989-997
|
artikel
|
| 4 |
Comprehensive genetic and phenotype analysis of 95 individuals with mosaic tuberous sclerosis complex
|
Klonowska, Katarzyna
|
|
|
110 |
6 |
p. 979-988
|
artikel
|
| 5 |
Declining autozygosity over time: An exploration in over 1 million individuals from three diverse cohorts
|
Colbert, Sarah M.C.
|
|
|
110 |
6 |
p. 1008-1014
|
artikel
|
| 6 |
Estimating clinical risk in gene regions from population sequencing cohort data
|
Fife, James D.
|
|
|
110 |
6 |
p. 940-949
|
artikel
|
| 7 |
eXclusionarY: 10 years later, where are the sex chromosomes in GWASs?
|
Sun, Lei
|
|
|
110 |
6 |
p. 903-912
|
artikel
|
| 8 |
Genome-wide aggregated trans-effects on risk of type 1 diabetes: A test of the “omnigenic” sparse effector hypothesis of complex trait genetics
|
Iakovliev, Andrii
|
|
|
110 |
6 |
p. 913-926
|
artikel
|
| 9 |
Impact of cross-ancestry genetic architecture on GWASs in admixed populations
|
Mester, Rachel
|
|
|
110 |
6 |
p. 927-939
|
artikel
|
| 10 |
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene’s candidacy in 6q16.1 deletions
|
Schönauer, Ria
|
|
|
110 |
6 |
p. 998-1007
|
artikel
|
| 11 |
Progress in expanding newborn screening in the United States
|
Grosse, Scott D.
|
|
|
110 |
6 |
p. 1015-1016
|
artikel
|
| 12 |
Response to Grosse et al.
|
Kingsmore, Stephen F.
|
|
|
110 |
6 |
p. 1017
|
artikel
|
| 13 |
The clinical and molecular spectrum of the KDM6B-related neurodevelopmental disorder
|
Rots, Dmitrijs
|
|
|
110 |
6 |
p. 963-978
|
artikel
|
| 14 |
This month in The Journal
|
Spencer, Kylee L.
|
|
|
110 |
6 |
p. 901-902
|
artikel
|
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