| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A data-driven architecture using natural language processing to improve phenotyping efficiency and accelerate genetic diagnoses of rare disorders
|
Parikh, Jignesh R.
|
|
|
2 |
3 |
p.
|
artikel
|
| 2 |
BinomiRare: A robust test for association of a rare genetic variant with a binary outcome for mixed models and any case-control proportion
|
Sofer, Tamar
|
|
|
2 |
3 |
p.
|
artikel
|
| 3 |
Common deletion variants causing protocadherin-α deficiency contribute to the complex genetics of BAV and left-sided congenital heart disease
|
Teekakirikul, Polakit
|
|
|
2 |
3 |
p.
|
artikel
|
| 4 |
Genome-wide survey of parent-of-origin-specific associations across clinical traits derived from electronic health records
|
Kim, Hye In
|
|
|
2 |
3 |
p.
|
artikel
|
| 5 |
Genomic medicine and the “loss of chance” medical malpractice doctrine
|
Wagner, Jennifer K.
|
|
|
2 |
3 |
p.
|
artikel
|
| 6 |
Integrative approaches generate insights into the architecture of non-syndromic cleft lip with or without cleft palate
|
Welzenbach, Julia
|
|
|
2 |
3 |
p.
|
artikel
|
| 7 |
Large-scale cross-cancer fine-mapping of the 5p15.33 region reveals multiple independent signals
|
Chen, Hongjie
|
|
|
2 |
3 |
p.
|
artikel
|
| 8 |
MUNIn: A statistical framework for identifying long-range chromatin interactions from multiple samples
|
Liu, Weifang
|
|
|
2 |
3 |
p.
|
artikel
|
| 9 |
Pleiotropy-guided transcriptome imputation from normal and tumor tissues identifies candidate susceptibility genes for breast and ovarian cancer
|
Kar, Siddhartha P.
|
|
|
2 |
3 |
p.
|
artikel
|
| 10 |
PTPN4 germline variants result in aberrant neurodevelopment and growth
|
Chmielewska, Joanna J.
|
|
|
2 |
3 |
p.
|
artikel
|
| 11 |
Variants in LSM7 impair LSM complexes assembly, neurodevelopment in zebrafish and may be associated with an ultra-rare neurological disease
|
Derksen, Alexa
|
|
|
2 |
3 |
p.
|
artikel
|
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