| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
ADAR RNA editing in human disease; more to it than meets the I
|
Gallo, Angela
|
|
2017
|
|
9 |
p. 1265-1278
|
artikel
|
| 2 |
A distal auxiliary element facilitates cleavage and polyadenylation of Dux4 mRNA in the pathogenic haplotype of FSHD
|
Peart, Natoya
|
|
2017
|
|
9 |
p. 1291-1301
|
artikel
|
| 3 |
A genetic association study detects haplotypes associated with obstructive heart defects
|
Li, Ming
|
|
2014
|
|
9 |
p. 1127-1138
|
artikel
|
| 4 |
Alternative splicing: the pledge, the turn, and the prestige
|
Gallego-Paez, L. M.
|
|
2017
|
|
9 |
p. 1015-1042
|
artikel
|
| 5 |
Amniotic fluid RNA gene expression profiling provides insights into the phenotype of Turner syndrome
|
Massingham, Lauren J.
|
|
2014
|
|
9 |
p. 1075-1082
|
artikel
|
| 6 |
An overview of germline variations in genes of primary immunodeficiences through integrative analysis of ClinVar, HGMD® and dbSNP databases
|
Salnikova, Lyubov E.
|
|
|
|
9 |
p. 1379-1393
|
artikel
|
| 7 |
Application of CRISPR/Cas9 technologies combined with iPSCs in the study and treatment of retinal degenerative diseases
|
Cai, Bincui
|
|
2018
|
|
9 |
p. 679-688
|
artikel
|
| 8 |
A single codon insertion in PICALM is associated with development of familial subvalvular aortic stenosis in Newfoundland dogs
|
Stern, Joshua A.
|
|
2014
|
|
9 |
p. 1139-1148
|
artikel
|
| 9 |
Association of CXCR6 with COVID-19 severity: delineating the host genetic factors in transcriptomic regulation
|
Dai, Yulin
|
|
|
|
9 |
p. 1313-1328
|
artikel
|
| 10 |
Bi-allelic truncating variants in CFAP206 cause male infertility in human and mouse
|
Shen, Qunshan
|
|
|
|
9 |
p. 1367-1377
|
artikel
|
| 11 |
Biomedical applications of gene editing
|
Perez-Pinera, Pablo
|
|
2016
|
|
9 |
p. 967-969
|
artikel
|
| 12 |
Causal influences of neuroticism on mental health and cardiovascular disease
|
Zhang, Fuquan
|
|
|
|
9 |
p. 1267-1281
|
artikel
|
| 13 |
Challenges in translational machine learning
|
Couckuyt, Artuur
|
|
|
|
9 |
p. 1451-1466
|
artikel
|
| 14 |
Compensatory epistasis explored by molecular dynamics simulations
|
Serrano, Catarina
|
|
|
|
9 |
p. 1329-1342
|
artikel
|
| 15 |
Compound heterozygous NOTCH1 mutations underlie impaired cardiogenesis in a patient with hypoplastic left heart syndrome
|
Theis, Jeanne L.
|
|
2015
|
|
9 |
p. 1003-1011
|
artikel
|
| 16 |
Considerations for whole exome sequencing unique to prenatal care
|
Abou Tayoun, Ahmad
|
|
|
|
9 |
p. 1149-1159
|
artikel
|
| 17 |
Correction to: Causal influences of neuroticism on mental health and cardiovascular disease
|
Zhang, Fuquan
|
|
|
|
9 |
p. 1283
|
artikel
|
| 18 |
CRISPR: a versatile tool for both forward and reverse genetics research
|
Gurumurthy, Channabasavaiah B.
|
|
2016
|
|
9 |
p. 971-976
|
artikel
|
| 19 |
Deep intronic mutations and human disease
|
Vaz-Drago, Rita
|
|
2017
|
|
9 |
p. 1093-1111
|
artikel
|
| 20 |
Defective splicing of the RB1 transcript is the dominant cause of retinoblastomas
|
Cygan, Kamil J.
|
|
2017
|
|
9 |
p. 1303-1312
|
artikel
|
| 21 |
Epigenomic association analysis identifies smoking-related DNA methylation sites in African Americans
|
Sun, Yan V.
|
|
2013
|
|
9 |
p. 1027-1037
|
artikel
|
| 22 |
Estimating the prevalence of functional exonic splice regulatory information
|
Savisaar, Rosina
|
|
2017
|
|
9 |
p. 1059-1078
|
artikel
|
| 23 |
Evaluating marginal genetic correlation of associated loci for complex diseases and traits between European and East Asian populations
|
Lu, Haojie
|
|
|
|
9 |
p. 1285-1297
|
artikel
|
| 24 |
Evaluation of PRDM9 variation as a risk factor for recurrent genomic disorders and chromosomal non-disjunction
|
Borel, Christelle
|
|
2012
|
|
9 |
p. 1519-1524
|
artikel
|
| 25 |
Exonic mutations in cell–cell adhesion may contribute to CADASIL-related CSVD pathology
|
Dunn, Paul J.
|
|
|
|
9 |
p. 1361-1373
|
artikel
|
| 26 |
Expanded carrier screening: counseling and considerations
|
Sparks, Teresa N.
|
|
|
|
9 |
p. 1131-1139
|
artikel
|
| 27 |
Faulty RNA splicing: consequences and therapeutic opportunities in brain and muscle disorders
|
Pagliarini, Vittoria
|
|
2017
|
|
9 |
p. 1215-1235
|
artikel
|
| 28 |
From mechanisms to therapy: RNA processing’s impact on human genetics
|
Penalva, Luiz O.
|
|
2017
|
|
9 |
p. 1013-1014
|
artikel
|
| 29 |
Gene correction in patient-specific iPSCs for therapy development and disease modeling
|
Jang, Yoon-Young
|
|
2016
|
|
9 |
p. 1041-1058
|
artikel
|
| 30 |
Gene therapies that restore dystrophin expression for the treatment of Duchenne muscular dystrophy
|
Robinson-Hamm, Jacqueline N.
|
|
2016
|
|
9 |
p. 1029-1040
|
artikel
|
| 31 |
Genetic analyses of gynecological disease identify genetic relationships between uterine fibroids and endometrial cancer, and a novel endometrial cancer genetic risk region at the WNT4 1p36.12 locus
|
Kho, Pik Fang
|
|
|
|
9 |
p. 1353-1365
|
artikel
|
| 32 |
Genetic epidemiology of cardiometabolic risk factors and their clustering patterns in Mexican American children and adolescents: the SAFARI Study
|
Fowler, Sharon P.
|
|
2013
|
|
9 |
p. 1059-1071
|
artikel
|
| 33 |
Genetic innovations and our understanding of stillbirth
|
Wilkins-Haug, Louise
|
|
|
|
9 |
p. 1161-1172
|
artikel
|
| 34 |
Genetic insights into the functional elements of language
|
Szalontai, Adam
|
|
2013
|
|
9 |
p. 959-986
|
artikel
|
| 35 |
Genetic mutations in RNA-binding proteins and their roles in ALS
|
Kapeli, Katannya
|
|
2017
|
|
9 |
p. 1193-1214
|
artikel
|
| 36 |
Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
|
Bramswig, Nuria C.
|
|
2018
|
|
9 |
p. 753-768
|
artikel
|
| 37 |
Genetic variants in the JAK1 gene confer higher risk of Behcet’s disease with ocular involvement in Han Chinese
|
Hou, Shengping
|
|
2013
|
|
9 |
p. 1049-1058
|
artikel
|
| 38 |
Genome editing and the next generation of antiviral therapy
|
Stone, Daniel
|
|
2016
|
|
9 |
p. 1071-1082
|
artikel
|
| 39 |
Genome editing revolutionize the creation of genetically modified pigs for modeling human diseases
|
Yao, Jing
|
|
2016
|
|
9 |
p. 1093-1105
|
artikel
|
| 40 |
Genome-editing technologies for gene correction of hemophilia
|
Park, Chul-Yong
|
|
2016
|
|
9 |
p. 977-981
|
artikel
|
| 41 |
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients
|
Kennedy, Richard B.
|
|
2012
|
|
9 |
p. 1403-1421
|
artikel
|
| 42 |
Genome-wide analysis of polymorphisms associated with cytokine responses in smallpox vaccine recipients
|
Kennedy, Richard B.
|
|
|
|
9 |
p. 1403-1421
|
artikel
|
| 43 |
Genome-wide association analysis of circulating vitamin D levels in children with asthma
|
Lasky-Su, Jessica
|
|
2012
|
|
9 |
p. 1495-1505
|
artikel
|
| 44 |
Genome-wide genetic associations with IFNγ response to smallpox vaccine
|
Kennedy, Richard B.
|
|
2012
|
|
9 |
p. 1433-1451
|
artikel
|
| 45 |
Genome-wide genetic associations with IFNγ response to smallpox vaccine
|
Kennedy, Richard B.
|
|
|
|
9 |
p. 1433-1451
|
artikel
|
| 46 |
Genome-wide investigation of an ID cohort reveals de novo 3′UTR variants affecting gene expression
|
Devanna, Paolo
|
|
2018
|
|
9 |
p. 717-721
|
artikel
|
| 47 |
Genomic characterisation of the overlap of endometriosis with 76 comorbidities identifies pleiotropic and causal mechanisms underlying disease risk
|
McGrath, Isabelle M.
|
|
|
|
9 |
p. 1345-1360
|
artikel
|
| 48 |
Genomics and inclusion of Indigenous peoples in high income countries
|
Gwynne, Kylie
|
|
|
|
9 |
p. 1407-1416
|
artikel
|
| 49 |
Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome
|
Alders, Mariëlle
|
|
2014
|
|
9 |
p. 1161-1167
|
artikel
|
| 50 |
High diagnostic yield of clinical exome sequencing in Middle Eastern patients with Mendelian disorders
|
Yavarna, Tarunashree
|
|
2015
|
|
9 |
p. 967-980
|
artikel
|
| 51 |
Highly pleiotropic variants of human traits are enriched in genomic regions with strong background selection
|
Novo, Irene
|
|
|
|
9 |
p. 1343-1351
|
artikel
|
| 52 |
HLA alleles associated with the adaptive immune response to smallpox vaccine: a replication study
|
Ovsyannikova, Inna G.
|
|
2014
|
|
9 |
p. 1083-1092
|
artikel
|
| 53 |
HLA alleles associated with the adaptive immune response to smallpox vaccine: a replication study
|
Ovsyannikova, Inna G.
|
|
|
|
9 |
p. 1083-1092
|
artikel
|
| 54 |
Host genetics and viral load in primary HIV-1 infection: clear evidence for gene by sex interactions
|
Li, Xuelin
|
|
2014
|
|
9 |
p. 1187-1197
|
artikel
|
| 55 |
Identification of germline genomic copy number variation in familial pancreatic cancer
|
Al-Sukhni, Wigdan
|
|
2012
|
|
9 |
p. 1481-1494
|
artikel
|
| 56 |
Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis
|
Du, Renqian
|
|
2018
|
|
9 |
p. 689-703
|
artikel
|
| 57 |
Identification of methylation quantitative trait loci (mQTLs) influencing promoter DNA methylation of alcohol dependence risk genes
|
Zhang, Huiping
|
|
2014
|
|
9 |
p. 1093-1104
|
artikel
|
| 58 |
IFIH1 loss-of-function variants contribute to very early-onset inflammatory bowel disease
|
Cananzi, Mara
|
|
|
|
9 |
p. 1299-1312
|
artikel
|
| 59 |
Impact of gene editing on the study of cystic fibrosis
|
Harrison, Patrick T.
|
|
2016
|
|
9 |
p. 983-992
|
artikel
|
| 60 |
Impact of Hardy–Weinberg disequilibrium on post-imputation quality control
|
Shriner, Daniel
|
|
2013
|
|
9 |
p. 1073-1075
|
artikel
|
| 61 |
Inactivating TDP2 missense mutation in siblings with congenital abnormalities reminiscent of fanconi anemia
|
Zagnoli-Vieira, Guido
|
|
|
|
9 |
p. 1417-1427
|
artikel
|
| 62 |
Insight in glioma susceptibility through an analysis of 6p22.3, 12p13.33-12.1, 17q22-23.2 and 18q23 SNP genotypes in familial and non-familial glioma
|
Liu, Yanhong
|
|
2012
|
|
9 |
p. 1507-1517
|
artikel
|
| 63 |
Interpretable generative deep learning: an illustration with single cell gene expression data
|
Treppner, Martin
|
|
|
|
9 |
p. 1481-1498
|
artikel
|
| 64 |
Interpretable machine learning for genomics
|
Watson, David S.
|
|
|
|
9 |
p. 1499-1513
|
artikel
|
| 65 |
Intron retention as a component of regulated gene expression programs
|
Jacob, Aishwarya G.
|
|
2017
|
|
9 |
p. 1043-1057
|
artikel
|
| 66 |
Investigating the tissue specificity and prognostic impact of cis-regulatory cancer risk variants
|
Subramanian, Ajay
|
|
|
|
9 |
p. 1395-1405
|
artikel
|
| 67 |
KIR and HLA under pressure: evidences of coevolution across worldwide populations
|
Augusto, Danillo G.
|
|
2015
|
|
9 |
p. 929-940
|
artikel
|
| 68 |
Large scale international replication and meta-analysis study confirms association of the 15q14 locus with myopia. The CREAM consortium
|
Verhoeven, Virginie J. M.
|
|
2012
|
|
9 |
p. 1467-1480
|
artikel
|
| 69 |
Long-read sequencing reveals the complex structure of extra dic(21;21) chromosome and its biological effects
|
Yoshida-Tanaka, Kugui
|
|
|
|
9 |
p. 1375-1384
|
artikel
|
| 70 |
Louanne Hudgins, Helga V. Toriello, Gregory M. Enns and H. Eugene Hoyme (eds): Signs and Symptoms of Genetic Conditions, a Handbook
|
Tully, Ian
|
|
2015
|
|
9 |
p. 1035
|
artikel
|
| 71 |
Maternal genetic diseases: potential concerns for mother and baby
|
Stone, Julie
|
|
|
|
9 |
p. 1173-1182
|
artikel
|
| 72 |
Mitochondrial DNA copy number in peripheral blood cells declines with age and is associated with general health among elderly
|
Mengel-From, Jonas
|
|
2014
|
|
9 |
p. 1149-1159
|
artikel
|
| 73 |
Modulation of aberrant splicing in human RNA diseases by chemical compounds
|
Kataoka, Naoyuki
|
|
2017
|
|
9 |
p. 1237-1245
|
artikel
|
| 74 |
Mosaic maternal ancestry in the Great Lakes region of East Africa
|
Gomes, Verónica
|
|
2015
|
|
9 |
p. 1013-1027
|
artikel
|
| 75 |
Multiplexed assays of variant effects contribute to a growing genotype–phenotype atlas
|
Weile, Jochen
|
|
2018
|
|
9 |
p. 665-678
|
artikel
|
| 76 |
Mutation of ATF6 causes autosomal recessive achromatopsia
|
Ansar, Muhammad
|
|
2015
|
|
9 |
p. 941-950
|
artikel
|
| 77 |
Neuronal SH-SY5Y cells use the C-dystrophin promoter coupled with exon 78 skipping and display multiple patterns of alternative splicing including two intronic insertion events
|
Nishida, Atsushi
|
|
2015
|
|
9 |
p. 993-1001
|
artikel
|
| 78 |
Noninvasive prenatal testing: from aneuploidy to single genes
|
Guseh, Stephanie H.
|
|
|
|
9 |
p. 1141-1148
|
artikel
|
| 79 |
Normal and altered pre-mRNA processing in the DMD gene
|
Tuffery-Giraud, Sylvie
|
|
2017
|
|
9 |
p. 1155-1172
|
artikel
|
| 80 |
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disability
|
Santos-Cortez, Regie Lyn P.
|
|
2018
|
|
9 |
p. 735-752
|
artikel
|
| 81 |
Opposite effects on facial morphology due to gene dosage sensitivity
|
Hammond, Peter
|
|
2014
|
|
9 |
p. 1117-1125
|
artikel
|
| 82 |
Patterns of nucleotide and haplotype diversity at ICAM-1 across global human populations with varying levels of malaria exposure
|
Gomez, Felicia
|
|
2013
|
|
9 |
p. 987-999
|
artikel
|
| 83 |
Population history modulates the fitness effects of Copy Number Variation in the Roma
|
Antinucci, Marco
|
|
|
|
9 |
p. 1327-1343
|
artikel
|
| 84 |
Promoter variants in the MSMB gene associated with prostate cancer regulate MSMB/NCOA4 fusion transcripts
|
Lou, Hong
|
|
2012
|
|
9 |
p. 1453-1466
|
artikel
|
| 85 |
Prospective phenotyping of CHAMP1 disorder indicates that coding mutations may not act through haploinsufficiency
|
Levy, Tess
|
|
|
|
9 |
p. 1385-1394
|
artikel
|
| 86 |
Protein sequestration as a normal function of long noncoding RNAs and a pathogenic mechanism of RNAs containing nucleotide repeat expansions
|
Morriss, Ginny R.
|
|
2017
|
|
9 |
p. 1247-1263
|
artikel
|
| 87 |
Rare coding variant analysis in a large cohort of Ashkenazi Jewish families with inflammatory bowel disease
|
Schiff, E. R.
|
|
2018
|
|
9 |
p. 723-734
|
artikel
|
| 88 |
Recommendations for ethical approaches to genotype-driven research recruitment
|
Beskow, Laura M.
|
|
2012
|
|
9 |
p. 1423-1431
|
artikel
|
| 89 |
regSNPs-splicing: a tool for prioritizing synonymous single-nucleotide substitution
|
Zhang, Xinjun
|
|
2017
|
|
9 |
p. 1279-1289
|
artikel
|
| 90 |
Replication and fine mapping of asthma-associated loci in individuals of African ancestry
|
Kantor, David B.
|
|
2013
|
|
9 |
p. 1039-1047
|
artikel
|
| 91 |
Revisiting disease genes based on whole-exome sequencing in consanguineous populations
|
Shamia, Ahmed
|
|
2015
|
|
9 |
p. 1029-1034
|
artikel
|
| 92 |
RNA processing as an alternative route to attack glioblastoma
|
Marcelino Meliso, Fabiana
|
|
2017
|
|
9 |
p. 1129-1141
|
artikel
|
| 93 |
RNA splicing and splicing regulator changes in prostate cancer pathology
|
Munkley, Jennifer
|
|
2017
|
|
9 |
p. 1143-1154
|
artikel
|
| 94 |
Role of TRAV locus in low caries experience
|
Briseño-Ruiz, Jessica
|
|
2013
|
|
9 |
p. 1015-1025
|
artikel
|
| 95 |
SMN regulation in SMA and in response to stress: new paradigms and therapeutic possibilities
|
Dominguez, Catherine E.
|
|
2017
|
|
9 |
p. 1173-1191
|
artikel
|
| 96 |
Special issue: Artificial intelligence in genomics
|
Boulesteix, Anne-Laure
|
|
|
|
9 |
p. 1449-1450
|
artikel
|
| 97 |
Special issue on “Feto-Maternal Genomic Medicine”: a decade of incredible advances
|
Gray, Kathryn J.
|
|
|
|
9 |
p. 1119-1120
|
artikel
|
| 98 |
TALEN gene editing takes aim on HIV
|
Benjamin, Ronald
|
|
2016
|
|
9 |
p. 1059-1070
|
artikel
|
| 99 |
The activity of the serotonin receptor 2C is regulated by alternative splicing
|
Stamm, Stefan
|
|
2017
|
|
9 |
p. 1079-1091
|
artikel
|
| 100 |
The current and future impact of genome-wide sequencing on fetal precision medicine
|
Sabbagh, Riwa
|
|
|
|
9 |
p. 1121-1130
|
artikel
|
| 101 |
The origin and impact of embryonic aneuploidy
|
Fragouli, Elpida
|
|
2013
|
|
9 |
p. 1001-1013
|
artikel
|
| 102 |
The population genomic landscape of human genetic structure, admixture history and local adaptation in Peninsular Malaysia
|
Deng, Lian
|
|
2014
|
|
9 |
p. 1169-1185
|
artikel
|
| 103 |
The present and future of genome editing in cancer research
|
Li, Xiaoyi
|
|
2016
|
|
9 |
p. 1083-1092
|
artikel
|
| 104 |
The promise of automated machine learning for the genetic analysis of complex traits
|
Manduchi, Elisabetta
|
|
|
|
9 |
p. 1529-1544
|
artikel
|
| 105 |
The role of RNA alternative splicing in regulating cancer metabolism
|
Kozlovski, Itamar
|
|
2017
|
|
9 |
p. 1113-1127
|
artikel
|
| 106 |
The significance of the placental genome and methylome in fetal and maternal health
|
Del Gobbo, Giulia F.
|
|
|
|
9 |
p. 1183-1196
|
artikel
|
| 107 |
Treating hemoglobinopathies using gene-correction approaches: promises and challenges
|
Cottle, Renee N.
|
|
2016
|
|
9 |
p. 993-1010
|
artikel
|
| 108 |
Use of genome-editing tools to treat sickle cell disease
|
Tasan, Ipek
|
|
2016
|
|
9 |
p. 1011-1028
|
artikel
|
| 109 |
U-statistics in genetic association studies
|
Li, Hongzhe
|
|
2012
|
|
9 |
p. 1395-1401
|
artikel
|
| 110 |
Validated context-dependent associations of coronary heart disease risk with genotype variation in the chromosome 9p21 region: the Atherosclerosis Risk in Communities study
|
Lusk, Christine M.
|
|
2014
|
|
9 |
p. 1105-1116
|
artikel
|
| 111 |
Validating the knowledge bank approach for personalized prediction of survival in acute myeloid leukemia: a reproducibility study
|
Xu, Yujun
|
|
|
|
9 |
p. 1467-1480
|
artikel
|
| 112 |
What makes a good prediction? Feature importance and beginning to open the black box of machine learning in genetics
|
Musolf, Anthony M.
|
|
|
|
9 |
p. 1515-1528
|
artikel
|
| 113 |
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome
|
Tetreault, Martine
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