| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
AFA: Ancestry-specific allele frequency estimation in admixed populations: The Hispanic Community Health Study/Study of Latinos
|
Granot-Hershkovitz, Einat
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2 |
p.
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artikel
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| 2 |
Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits—The Hispanic/Latino Anthropometry Consortium
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Fernández-Rhodes, Lindsay
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2 |
p.
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artikel
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| 3 |
A year of COVID-19 GWAS results from the GRASP portal reveals potential genetic risk factors
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Thibord, Florian
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2 |
p.
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artikel
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| 4 |
Biallelic non-productive enhancer-promoter interactions precede imprinted expression of Kcnk9 during mouse neural commitment
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Rengifo Rojas, Cecilia
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2 |
p.
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artikel
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| 5 |
Biallelic pathogenic variants in the mitochondrial form of phosphoenolpyruvate carboxykinase cause peripheral neuropathy
|
Sondheimer, Neal
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2 |
p.
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artikel
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| 6 |
Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease
|
Thompson, Kyle
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2 |
p.
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artikel
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| 7 |
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14
|
Jackson, Adam
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2 |
p.
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artikel
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| 8 |
Clinical, immunohistochemical, and genetic characterization of splice-altering biallelic DES variants: Therapeutic implications
|
Geist Hauserman, Janelle
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2 |
p.
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artikel
|
| 9 |
Clinical interpretation of KCNH2 variants using a robust PS3/BS3 functional patch-clamp assay
|
Thomson, Kate L.
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2 |
p.
|
artikel
|
| 10 |
Clinical validation of genomic functional screen data: Analysis of observed BRCA1 variants in an unselected population cohort
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Schiabor Barrett, Kelly M.
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2 |
p.
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artikel
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| 11 |
Community partnerships are fundamental to ethical ancient DNA research
|
Kowal, Emma
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2 |
p.
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artikel
|
| 12 |
CRISPR/Cas9-induced gene conversion between ATAD3 paralogs
|
Yanovsky-Dagan, Shira
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2 |
p.
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artikel
|
| 13 |
Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation
|
Ugwu, Nelson
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2 |
p.
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artikel
|
| 14 |
Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3
|
Nair, Divya
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2 |
p.
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artikel
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| 15 |
Evaluating and improving health equity and fairness of polygenic scores
|
Zhang, Tianyu
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2 |
p.
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artikel
|
| 16 |
First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B
|
Gehlen, Jan
|
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2 |
p.
|
artikel
|
| 17 |
From pharmacogenetics to pharmaco-omics: Milestones and future directions
|
Auwerx, Chiara
|
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2 |
p.
|
artikel
|
| 18 |
Genetic discovery and risk characterization in type 2 diabetes across diverse populations
|
Polfus, Linda M.
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2 |
p.
|
artikel
|
| 19 |
Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder
|
Boyle, Lia
|
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2 |
p.
|
artikel
|
| 20 |
Guidance on use of race, ethnicity, and geographic origin as proxies for genetic ancestry groups in biomedical publications
|
Feero, W. Gregory
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2 |
p.
|
artikel
|
| 21 |
Guidelines for genetic ancestry inference created through roundtable discussions
|
Wagner, Jennifer K.
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2 |
p.
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artikel
|
| 22 |
Hereditary alpha-tryptasemia modifies clinical phenotypes among individuals with congenital hypermobility disorders
|
Vazquez, Maribel
|
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2 |
p.
|
artikel
|
| 23 |
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features
|
Ansari, Morad
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2 |
p.
|
artikel
|
| 24 |
HLA-A∗03:01 is associated with increased risk of fever, chills, and stronger side effects from Pfizer-BioNTech COVID-19 vaccination
|
Bolze, Alexandre
|
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2 |
p.
|
artikel
|
| 25 |
Improved estimation of functional enrichment in SNP heritability using feasible generalized least squares
|
Xiong, Zewei
|
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2 |
p.
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artikel
|
| 26 |
“Is that something that should concern me?”: a qualitative exploration of parent understanding of their child’s genomic test results
|
Watnick, Dana
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|
2 |
p.
|
artikel
|
| 27 |
Leveraging TOPMed imputation server and constructing a cohort-specific imputation reference panel to enhance genotype imputation among cystic fibrosis patients
|
Sun, Quan
|
|
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|
2 |
p.
|
artikel
|
| 28 |
Liver regulatory mechanisms of noncoding variants at lipid and metabolic trait loci
|
Pandey, Gautam K.
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2 |
p.
|
artikel
|
| 29 |
Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders
|
Hiatt, Susan M.
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2 |
p.
|
artikel
|
| 30 |
Low and differential polygenic score generalizability among African populations due largely to genetic diversity
|
Majara, Lerato
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2 |
p.
|
artikel
|
| 31 |
Massively parallel reporter assay confirms regulatory potential of hQTLs and reveals important variants in lupus and other autoimmune diseases
|
Fu, Yao
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2 |
p.
|
artikel
|
| 32 |
Maternal effect genes as risk factors for congenital heart defects
|
Musfee, Fadi I.
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2 |
p.
|
artikel
|
| 33 |
Olfactory receptor genes and chromosome 11 structural aberrations: Players or spectators?
|
Redaelli, Serena
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2 |
p.
|
artikel
|
| 34 |
PABPN1 loss-of-function causes APA-shift in oculopharyngeal muscular dystrophy
|
Shademan, Milad
|
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|
2 |
p.
|
artikel
|
| 35 |
Placental expression quantitative trait loci in an East Asian population
|
Choi, Jaeyong
|
|
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|
2 |
p.
|
artikel
|
| 36 |
Polygenic risk scores and kidney traits in the Hispanic/Latino population: The Hispanic Community Health Study/Study of Latinos
|
Zhou, Laura Y.
|
|
|
|
2 |
p.
|
artikel
|
| 37 |
Prediction of breast cancer risk based on flow variant analysis of circulating peripheral blood mononuclear cells
|
Loke, Johnny
|
|
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|
2 |
p.
|
artikel
|
| 38 |
Quantifying negative selection on synonymous variants
|
Gudkov, Mikhail
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2 |
p.
|
artikel
|
| 39 |
Rare coding variants in DNA damage repair genes associated with timing of natural menopause
|
Ward, Lucas D.
|
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|
2 |
p.
|
artikel
|
| 40 |
Rare missense variants in the SH3 domain of PSTPIP1 are associated with hidradenitis suppurativa
|
Morales-Heil, David J.
|
|
|
|
2 |
p.
|
artikel
|
| 41 |
Return of polygenic risk scores in research: Stakeholders’ views on the eMERGE-IV study
|
Sabatello, Maya
|
|
|
|
2 |
p.
|
artikel
|
| 42 |
Shared genomic segments analysis identifies MHC class I and class III molecules as genetic risk factors for juvenile idiopathic arthritis
|
Avery, Cecile N.
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|
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2 |
p.
|
artikel
|
| 43 |
Single-cell analysis identified POSTN+ cells associated with the aggressive phenotype and risk of esophageal squamous cell carcinoma
|
Tan, Yuqian
|
|
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|
2 |
p.
|
artikel
|
| 44 |
Somatic activating BRAF variants cause isolated lymphatic malformations
|
Zenner, Kaitlyn
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2 |
p.
|
artikel
|
| 45 |
Splicing annotation of endometrial cancer GWAS risk loci reveals potentially causal variants and supports a role for NF1 and SKAP1 as susceptibility genes
|
Canson, Daffodil M.
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2 |
p.
|
artikel
|
| 46 |
Stability of polygenic scores across discovery genome-wide association studies
|
Schultz, Laura M.
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2 |
p.
|
artikel
|
| 47 |
Subset-based method for cross-tissue transcriptome-wide association studies improves power and interpretability
|
Guo, Xinyu
|
|
|
|
2 |
p.
|
artikel
|
| 48 |
The influence of NUDT15 variants on 6-mercaptopurine-induced neutropenia in Vietnamese pediatric acute lymphoblastic leukemia
|
Nguyen, Mai-Lan
|
|
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|
2 |
p.
|
artikel
|
| 49 |
The PAX1 locus at 20p11 is a potential genetic modifier for bilateral cleft lip
|
Curtis, Sarah W.
|
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2 |
p.
|
artikel
|
| 50 |
Transcriptome prediction performance across machine learning models and diverse ancestries
|
Okoro, Paul C.
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2 |
p.
|
artikel
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| 51 |
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction
|
Reurink, Janine
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2 |
p.
|
artikel
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