| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A dyadic approach to the delineation of diagnostic entities in clinical genomics
|
Biesecker, Leslie G.
|
|
|
108 |
1 |
p. 8-15
|
artikel
|
| 2 |
De novo variants in POLR3B cause ataxia, spasticity, and demyelinating neuropathy
|
Djordjevic, Djurdja
|
|
|
108 |
1 |
p. 186-193
|
artikel
|
| 3 |
Distinguishing pedigree relationships via multi-way identity by descent sharing and sex-specific genetic maps
|
Qiao, Ying
|
|
|
108 |
1 |
p. 68-83
|
artikel
|
| 4 |
Failure to recombine is a common feature of human oogenesis
|
Hassold, Terry
|
|
|
108 |
1 |
p. 16-24
|
artikel
|
| 5 |
Host genetic effects in pneumonia
|
Chen, Hung-Hsin
|
|
|
108 |
1 |
p. 194-201
|
artikel
|
| 6 |
Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study
|
Ortiz-Fernández, Lourdes
|
|
|
108 |
1 |
p. 84-99
|
artikel
|
| 7 |
Leveraging phenotypic variability to identify genetic interactions in human phenotypes
|
Marderstein, Andrew R.
|
|
|
108 |
1 |
p. 49-67
|
artikel
|
| 8 |
Massively parallel functional testing of MSH2 missense variants conferring Lynch syndrome risk
|
Jia, Xiaoyan
|
|
|
108 |
1 |
p. 163-175
|
artikel
|
| 9 |
Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy
|
Fry, Andrew E.
|
|
|
108 |
1 |
p. 176-185
|
artikel
|
| 10 |
Multi-parametric analysis of 57 SYNGAP1 variants reveal impacts on GTPase signaling, localization, and protein stability
|
Meili, Fabian
|
|
|
108 |
1 |
p. 148-162
|
artikel
|
| 11 |
PLEIO: a method to map and interpret pleiotropic loci with GWAS summary statistics
|
Lee, Cue Hyunkyu
|
|
|
108 |
1 |
p. 36-48
|
artikel
|
| 12 |
Probabilistic colocalization of genetic variants from complex and molecular traits: promise and limitations
|
Hukku, Abhay
|
|
|
108 |
1 |
p. 25-35
|
artikel
|
| 13 |
Rare and de novo coding variants in chromodomain genes in Chiari I malformation
|
Sadler, Brooke
|
|
|
108 |
1 |
p. 100-114
|
artikel
|
| 14 |
Response to Jackson
|
Micheletti, Steven J.
|
|
|
108 |
1 |
p. 209-210
|
artikel
|
| 15 |
SCUBE3 loss-of-function causes a recognizable recessive developmental disorder due to defective bone morphogenetic protein signaling
|
Lin, Yuh-Charn
|
|
|
108 |
1 |
p. 115-133
|
artikel
|
| 16 |
So many Nigerians: why is Nigeria overrepresented as the ancestral genetic homeland of Legacy African North Americans?
|
Jackson, Fatimah L.C.
|
|
|
108 |
1 |
p. 202-208
|
artikel
|
| 17 |
The genomics workforce must become more diverse: a strategic imperative
|
Bonham, Vence L.
|
|
|
108 |
1 |
p. 3-7
|
artikel
|
| 18 |
This month in The Journal
|
Ratzel, Sarah
|
|
|
108 |
1 |
p. 1-2
|
artikel
|
| 19 |
UBR7 functions with UBR5 in the Notch signaling pathway and is involved in a neurodevelopmental syndrome with epilepsy, ptosis, and hypothyroidism
|
Li, Chunmei
|
|
|
108 |
1 |
p. 134-147
|
artikel
|
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