| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Adaptive eQTLs reveal the evolutionary impacts of pleiotropy and tissue-specificity while contributing to health and disease
|
Quiver, Melanie H.
|
|
|
3 |
1 |
p.
|
artikel
|
| 2 |
A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay
|
Laboy Cintron, Dianne
|
|
|
3 |
1 |
p.
|
artikel
|
| 3 |
Associations of genetic susceptibility to 16 cancers with risk of breast cancer overall and by intrinsic subtypes
|
Choi, Jungyoon
|
|
|
3 |
1 |
p.
|
artikel
|
| 4 |
A whole-exome case-control association study to characterize the contribution of rare coding variation to pancreatic cancer risk
|
Yu, Yao
|
|
|
3 |
1 |
p.
|
artikel
|
| 5 |
Characteristics and experiences of patients from a community-based and consumer-directed hereditary cancer population screening initiative
|
Greve, Veronica
|
|
|
3 |
1 |
p.
|
artikel
|
| 6 |
Comparison of somatic mutation landscapes in Chinese versus European breast cancer patients
|
Zhu, Bin
|
|
|
3 |
1 |
p.
|
artikel
|
| 7 |
Correction of the hypomorphic Gabra2 splice site variant in mouse strain C57BL/6J modifies the severity of Scn8a encephalopathy
|
Yu, Wenxi
|
|
|
3 |
1 |
p.
|
artikel
|
| 8 |
Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation
|
Ugwu, Nelson
|
|
|
3 |
1 |
p.
|
artikel
|
| 9 |
Ending genetic essentialism through genetics education
|
Donovan, Brian M.
|
|
|
3 |
1 |
p.
|
artikel
|
| 10 |
Ethical, anticipatory genomics research on human behavior means celebrating disagreement
|
Martschenko, Daphne Oluwaseun
|
|
|
3 |
1 |
p.
|
artikel
|
| 11 |
Framing the utility and potential pitfalls of relationship and identity DNA testing across United States immigration contexts
|
Madden, Diana
|
|
|
3 |
1 |
p.
|
artikel
|
| 12 |
From GWAS variant to function: A study of ∼148,000 variants for blood cell traits
|
Sun, Quan
|
|
|
3 |
1 |
p.
|
artikel
|
| 13 |
From karyotypes to precision genomics in 9p deletion and duplication syndromes
|
Sams, Eleanor I.
|
|
|
3 |
1 |
p.
|
artikel
|
| 14 |
Genetic factors associated with prostate cancer conversion from active surveillance to treatment
|
Jiang, Yu
|
|
|
3 |
1 |
p.
|
artikel
|
| 15 |
Genome-wide analysis of copy number variants and normal facial variation in a large cohort of Bantu Africans
|
Null, Megan
|
|
|
3 |
1 |
p.
|
artikel
|
| 16 |
Human genetic diversity regulating the TLR10/TLR1/TLR6 locus confers increased cytokines in response to Chlamydia trachomatis
|
Barnes, Alyson B.
|
|
|
3 |
1 |
p.
|
artikel
|
| 17 |
Identification of a common polymorphism in COQ8B acting as a modifier of thoracic aortic aneurysm severity
|
Landis, Benjamin J.
|
|
|
3 |
1 |
p.
|
artikel
|
| 18 |
Identification of 90 NAFLD GWAS loci and establishment of NAFLD PRS and causal role of NAFLD in coronary artery disease
|
Miao, Zong
|
|
|
3 |
1 |
p.
|
artikel
|
| 19 |
Low frequency of treatable pediatric disease alleles in gnomAD: An opportunity for future genomic screening of newborns
|
Gold, Nina B.
|
|
|
3 |
1 |
p.
|
artikel
|
| 20 |
Maternal effect genes: Update and review of evidence for a link with birth defects
|
Mitchell, Laura E.
|
|
|
3 |
1 |
p.
|
artikel
|
| 21 |
Neural network classifiers for images of genetic conditions with cutaneous manifestations
|
Duong, Dat
|
|
|
3 |
1 |
p.
|
artikel
|
| 22 |
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
|
Levy, Michael A.
|
|
|
3 |
1 |
p.
|
artikel
|
| 23 |
Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability
|
Zhang, Chaofan
|
|
|
3 |
1 |
p.
|
artikel
|
| 24 |
Orofacial overgrowth with peripheral nerve enlargement and perineuriomatous pseudo-onion bulb proliferations is part of the PIK3CA-related overgrowth spectrum
|
Koutlas, Ioannis G.
|
|
|
3 |
1 |
p.
|
artikel
|
| 25 |
Population-based genetic effects for developmental stuttering
|
Polikowsky, Hannah G.
|
|
|
3 |
1 |
p.
|
artikel
|
| 26 |
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing
|
Falzarano, Maria S.
|
|
|
3 |
1 |
p.
|
artikel
|
| 27 |
TIGAR-V2: Efficient TWAS tool with nonparametric Bayesian eQTL weights of 49 tissue types from GTEx V8
|
Parrish, Randy L.
|
|
|
3 |
1 |
p.
|
artikel
|
| 28 |
Transethnic analysis of psoriasis susceptibility in South Asians and Europeans enhances fine mapping in the MHC and genome wide
|
Stuart, Philip E.
|
|
|
3 |
1 |
p.
|
artikel
|
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