| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A comparison of type 2 diabetes risk allele load between African Americans and European Americans
|
Keaton, Jacob M.
|
|
2014
|
|
12 |
p. 1487-1495
|
artikel
|
| 2 |
A comprehensive genomic reporting structure for communicating all clinically significant primary and secondary findings
|
Sam, Jordan
|
|
|
|
12 |
p. 1875-1885
|
artikel
|
| 3 |
Admixture mapping identifies a locus at 15q21.2–22.3 associated with keloid formation in African Americans
|
Velez Edwards, Digna R.
|
|
2014
|
|
12 |
p. 1513-1523
|
artikel
|
| 4 |
A functional variant of pre-miRNA-196a2 confers risk for Behcet’s disease but not for Vogt–Koyanagi–Harada syndrome or AAU in ankylosing spondylitis
|
Qi, Jian
|
|
2013
|
|
12 |
p. 1395-1404
|
artikel
|
| 5 |
A mutation in ADIPOR1 causes nonsyndromic autosomal dominant retinitis pigmentosa
|
Zhang, Jinlu
|
|
2016
|
|
12 |
p. 1375-1387
|
artikel
|
| 6 |
A novel method for identifying nonlinear gene–environment interactions in case–control association studies
|
Wu, Cen
|
|
2013
|
|
12 |
p. 1413-1425
|
artikel
|
| 7 |
A novel variant in GPAA1, encoding a GPI transamidase complex protein, causes inherited vascular anomalies with various phenotypes
|
Li, Yongyun
|
|
|
|
12 |
p. 1499-1511
|
artikel
|
| 8 |
A recessive variant in TFAM causes mtDNA depletion associated with primary ovarian insufficiency, seizures, intellectual disability and hearing loss
|
Ullah, Farid
|
|
|
|
12 |
p. 1733-1751
|
artikel
|
| 9 |
Associations of cytochrome P450 oxidoreductase genetic polymorphisms with smoking cessation in a Chinese population
|
Li, Huijie
|
|
2016
|
|
12 |
p. 1389-1397
|
artikel
|
| 10 |
ATR-X syndrome: genetics, clinical spectrum, and management
|
León, Nayla Y.
|
|
|
|
12 |
p. 1625-1634
|
artikel
|
| 11 |
Bayes’ rule, medical genetics and the wider world. A review of: the theory that would not die. How Bayes’ rule cracked the Enigma code, hunted down Russian submarines, and emerged triumphant from two centuries of controversy: by Sharon Bertsch McGrayne
|
Harper, Peter S.
|
|
2013
|
|
12 |
p. 1433-1435
|
artikel
|
| 12 |
Biallelic variants in YRDC cause a developmental disorder with progeroid features
|
Schmidt, Julia
|
|
|
|
12 |
p. 1679-1693
|
artikel
|
| 13 |
Cathepsin B SNPs elevate the pathological development of oral cancer and raise the susceptibility to carcinogen-mediated oral cancer
|
Chen, Mu-Kuan
|
|
2012
|
|
12 |
p. 1861-1868
|
artikel
|
| 14 |
Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions
|
Kehrer-Sawatzki, Hildegard
|
|
|
|
12 |
p. 1635-1649
|
artikel
|
| 15 |
Clinical characteristics and comorbidities of COVID-19 in unvaccinated patients with Down syndrome: first year report in Brazil
|
Boschiero, Matheus Negri
|
|
|
|
12 |
p. 1887-1904
|
artikel
|
| 16 |
Clinical implications of genetic testing in familial intermediate and late-onset colorectal cancer
|
Djursby, Malene
|
|
|
|
12 |
p. 1925-1933
|
artikel
|
| 17 |
Complement component 4 copy number variation and CYP21A2 genotype associations in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
|
Chen, Wuyan
|
|
2012
|
|
12 |
p. 1889-1894
|
artikel
|
| 18 |
Complex chromosomal rearrangements of human chromosome 21 in a patient manifesting clinical features partially overlapped with that of Down syndrome
|
Imaizumi, Taichi
|
|
|
|
12 |
p. 1555-1563
|
artikel
|
| 19 |
Comprehensive evaluation of the implementation of episignatures for diagnosis of neurodevelopmental disorders (NDDs)
|
Giuili, Edoardo
|
|
|
|
12 |
p. 1721-1735
|
artikel
|
| 20 |
Copy-number variant analysis of classic heterotaxy highlights the importance of body patterning pathways
|
Hagen, Erin M.
|
|
2016
|
|
12 |
p. 1355-1364
|
artikel
|
| 21 |
Correction to: Novel loci and mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys
|
Vicuña, Lucas
|
|
|
|
12 |
p. 1663
|
artikel
|
| 22 |
CRISPR/Cas-based gene editing in therapeutic strategies for beta-thalassemia
|
Zeng, Shujun
|
|
|
|
12 |
p. 1677-1703
|
artikel
|
| 23 |
David Goldman: Our genes, our choices
|
Florio, Arianna Di
|
|
2012
|
|
12 |
p. 1921-1922
|
artikel
|
| 24 |
De novo missense variants in PPP1CB are associated with intellectual disability and congenital heart disease
|
Ma, Lijiang
|
|
2016
|
|
12 |
p. 1399-1409
|
artikel
|
| 25 |
Disorders with similar clinical phenotypes reveal underlying genetic interaction: SATB2 acts as an activator of the UPF3B gene
|
Leoyklang, Petcharat
|
|
2013
|
|
12 |
p. 1383-1393
|
artikel
|
| 26 |
Erratum to: The success of pharmacogenomics in moving genetic association studies from bench to bedside: study design and implementation of precision medicine in the post-GWAS era
|
Ritchie, Marylyn D.
|
|
2013
|
|
12 |
p. 1437
|
artikel
|
| 27 |
Fanconi anemia: current insights regarding epidemiology, cancer, and DNA repair
|
Peake, Jasmine D.
|
|
|
|
12 |
p. 1811-1836
|
artikel
|
| 28 |
From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research
|
Zampeta, F. Isabella
|
|
|
|
12 |
p. 1837-1848
|
artikel
|
| 29 |
Functional implications of paralog genes in polyglutamine spinocerebellar ataxias
|
Felício, Daniela
|
|
|
|
12 |
p. 1651-1676
|
artikel
|
| 30 |
GATA4 and estrogen receptor alpha bind at SNPs rs9921222 and rs10794639 to regulate AXIN1 expression in osteoblasts
|
Suthon, Sarocha
|
|
|
|
12 |
p. 1849-1861
|
artikel
|
| 31 |
Gene–smoking interactions in multiple Rho-GTPase pathway genes in an early-onset coronary artery disease cohort
|
Ward-Caviness, Cavin
|
|
2013
|
|
12 |
p. 1371-1382
|
artikel
|
| 32 |
Genetics of familial forms of thrombocytopenia
|
Balduini, Carlo L.
|
|
2012
|
|
12 |
p. 1821-1832
|
artikel
|
| 33 |
Genetics of healthy aging and longevity
|
Brooks-Wilson, Angela R.
|
|
2013
|
|
12 |
p. 1323-1338
|
artikel
|
| 34 |
Genetic spectrums and clinical profiles of critically ill neonates with congenital auricular deformity in the China Neonatal Genomes Project
|
Xiao, Feifan
|
|
|
|
12 |
p. 1737-1745
|
artikel
|
| 35 |
Genome-wide association study of glioma and meta-analysis
|
Rajaraman, Preetha
|
|
2012
|
|
12 |
p. 1877-1888
|
artikel
|
| 36 |
Genome-wide copy number variation analysis of a Branchio-oto-renal syndrome cohort identifies a recombination hotspot and implicates new candidate genes
|
Brophy, Patrick D.
|
|
2013
|
|
12 |
p. 1339-1350
|
artikel
|
| 37 |
HLA-DPB1*04:01 allele is associated with non-obstructive azoospermia in Japanese patients
|
Jinam, Timothy A.
|
|
2013
|
|
12 |
p. 1405-1411
|
artikel
|
| 38 |
How meaningful are heritability estimates of liability?
|
Benchek, Penny H.
|
|
2013
|
|
12 |
p. 1351-1360
|
artikel
|
| 39 |
Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage–fusion–bridge for telomere stabilization
|
Yatsenko, Svetlana A.
|
|
2012
|
|
12 |
p. 1895-1910
|
artikel
|
| 40 |
Influences of FTO gene on onset age of adult overweight
|
Mei, Hao
|
|
2012
|
|
12 |
p. 1851-1859
|
artikel
|
| 41 |
KAT6A mutations in Arboleda-Tham syndrome drive epigenetic regulation of posterior HOXC cluster
|
Singh, Meghna
|
|
|
|
12 |
p. 1705-1720
|
artikel
|
| 42 |
Linkage analysis for plasma amyloid beta levels in persons with hypertension implicates Aβ-40 levels to presenilin 2
|
Ibrahim-Verbaas, Carla A.
|
|
2012
|
|
12 |
p. 1869-1876
|
artikel
|
| 43 |
Linking polymorphic p53 response elements with gene expression in airway epithelial cells of smokers and cancer risk
|
Wang, Xuting
|
|
2014
|
|
12 |
p. 1467-1476
|
artikel
|
| 44 |
Locus-level antagonistic selection shaped the polygenic architecture of human complex diseases
|
Song, Weichen
|
|
|
|
12 |
p. 1935-1947
|
artikel
|
| 45 |
Machado-Joseph disease in a Sudanese family links East Africa to Portuguese families and allows reestimation of ancestral age of the Machado lineage
|
Martins, Sandra
|
|
|
|
12 |
p. 1747-1754
|
artikel
|
| 46 |
Multipoint genome-wide linkage scan for nonword repetition in a multigenerational family further supports chromosome 13q as a locus for verbal trait disorders
|
Truong, D. T.
|
|
2016
|
|
12 |
p. 1329-1341
|
artikel
|
| 47 |
Network medicine: linking disorders
|
Piro, Rosario M.
|
|
2012
|
|
12 |
p. 1811-1820
|
artikel
|
| 48 |
NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases
|
Perea-Romero, I.
|
|
|
|
12 |
p. 1665-1678
|
artikel
|
| 49 |
NOD2 and CCDC122-LACC1 genes are associated with leprosy susceptibility in Brazilians
|
Sales-Marques, Carolinne
|
|
2014
|
|
12 |
p. 1525-1532
|
artikel
|
| 50 |
No evidence of interaction between known lipid-associated genetic variants and smoking in the multi-ethnic PAGE population
|
Dumitrescu, Logan
|
|
2013
|
|
12 |
p. 1427-1431
|
artikel
|
| 51 |
Novel loci and Mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys
|
Vicuña, Lucas
|
|
|
|
12 |
p. 1651-1661
|
artikel
|
| 52 |
Novel loss-of-function mutations in COCH cause autosomal recessive nonsyndromic hearing loss
|
Booth, Kevin T.
|
|
|
|
12 |
p. 1565-1574
|
artikel
|
| 53 |
Patient and public preferences for being recontacted with updated genomic results: a mixed methods study
|
Mighton, Chloe
|
|
|
|
12 |
p. 1695-1708
|
artikel
|
| 54 |
Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants
|
Tokatly Latzer, Itay
|
|
|
|
12 |
p. 1755-1776
|
artikel
|
| 55 |
Pleiotropy and allelic heterogeneity in the TOMM40-APOE genomic region related to clinical and metabolic features of hepatitis C infection
|
Chiba-Falek, Ornit
|
|
2012
|
|
12 |
p. 1911-1920
|
artikel
|
| 56 |
Population stratification may bias analysis of PGC-1α as a modifier of age at Huntington disease motor onset
|
Ramos, Eliana Marisa
|
|
2012
|
|
12 |
p. 1833-1840
|
artikel
|
| 57 |
Severe DNM1 encephalopathy with dysmyelination due to recurrent splice site pathogenic variant
|
Sahly, Ahmed N.
|
|
|
|
12 |
p. 1575-1578
|
artikel
|
| 58 |
SNP characteristics predict replication success in association studies
|
Gorlov, Ivan P.
|
|
2014
|
|
12 |
p. 1477-1486
|
artikel
|
| 59 |
Study of telomere length in men who carry a fragile X premutation or full mutation allele
|
Albizua, Igor
|
|
|
|
12 |
p. 1531-1539
|
artikel
|
| 60 |
Testing evolutionary models of senescence: traditional approaches and future directions
|
Robins, Chloe
|
|
2014
|
|
12 |
p. 1451-1465
|
artikel
|
| 61 |
The cataract-linked RNA-binding protein Celf1 post-transcriptionally controls the spatiotemporal expression of the key homeodomain transcription factors Pax6 and Prox1 in lens development
|
Aryal, Sandeep
|
|
|
|
12 |
p. 1541-1554
|
artikel
|
| 62 |
The disappearing San of southeastern Africa and their genetic affinities
|
Schlebusch, Carina M.
|
|
2016
|
|
12 |
p. 1365-1373
|
artikel
|
| 63 |
The heritability of vocal tract structures estimated from structural MRI in a large cohort of Dutch twins
|
Dediu, Dan
|
|
|
|
12 |
p. 1905-1923
|
artikel
|
| 64 |
The molecular genetic basis of atrial fibrillation
|
Huang, Xin
|
|
|
|
12 |
p. 1485-1498
|
artikel
|
| 65 |
The necdin interactome: evaluating the effects of amino acid substitutions and cell stress using proximity-dependent biotinylation (BioID) and mass spectrometry
|
Sanderson, Matthea R.
|
|
|
|
12 |
p. 1513-1529
|
artikel
|
| 66 |
The population genetics characteristics of a 90 locus panel of microhaplotypes
|
Pakstis, Andrew J.
|
|
|
|
12 |
p. 1753-1773
|
artikel
|
| 67 |
Tooth agenesis and orofacial clefting: genetic brothers in arms?
|
Phan, M.
|
|
2016
|
|
12 |
p. 1299-1327
|
artikel
|
| 68 |
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
|
Whitman, Mary C.
|
|
|
|
12 |
p. 1709-1731
|
artikel
|
| 69 |
Two-stage association study in Chinese Han identifies two independent associations in CCR1/CCR3 locus as candidate for Behçet’s disease susceptibility
|
Hou, Shengping
|
|
2012
|
|
12 |
p. 1841-1850
|
artikel
|
| 70 |
Understanding the pathogenesis of brain arteriovenous malformation: genetic variations, epigenetics, signaling pathways, and immune inflammation
|
Wang, Shiyi
|
|
|
|
12 |
p. 1633-1649
|
artikel
|
| 71 |
Variants in BET1L and TNRC6B associate with increasing fibroid volume and fibroid type among European Americans
|
Edwards, Todd L.
|
|
2013
|
|
12 |
p. 1361-1369
|
artikel
|
| 72 |
WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins
|
Sorokina, Elena A.
|
|
|
|
12 |
p. 1775-1789
|
artikel
|
| 73 |
Whole exome sequence analysis of Peters anomaly
|
Weh, Eric
|
|
2014
|
|
12 |
p. 1497-1511
|
artikel
|
| 74 |
Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype
|
Lucariello, Mario
|
|
2016
|
|
12 |
p. 1343-1354
|
artikel
|
| 75 |
46,XY disorders of sex development: the use of NGS for prevalent variants
|
Xie, Qi-Gen
|
|
|
|
12 |
p. 1863-1873
|
artikel
|
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