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 |
|
2015 |
|
9 |
p. 981-991 |
artikel |
114 |
Whole-exome sequencing identifies rare genetic variations in German families with pulmonary sarcoidosis
|
Kishore, Amit |
|
2018 |
|
9 |
p. 705-716 |
artikel |
115 |
Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease
|
Kaliszewska, Magdalena |
|
2015 |
|
9 |
p. 951-966 |
artikel |
116 |
ZNF668 deficiency causes a recognizable disorder of DNA damage repair
|
Alsaif, Hessa S. |
|
|
|
9 |
p. 1395-1401 |
artikel |