| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A beginners guide to SNP calling from high-throughput DNA-sequencing data
|
Altmann, André
|
|
2012
|
|
10 |
p. 1541-1554
|
artikel
|
| 2 |
A comparative analysis of genetic hearing loss phenotypes in European/American and Japanese populations
|
Walls, W. Daniel
|
|
|
|
10 |
p. 1315-1323
|
artikel
|
| 3 |
A founder DBR1 variant causes a lethal form of congenital ichthyosis
|
Shamseldin, Hanan E.
|
|
|
|
10 |
p. 1491-1498
|
artikel
|
| 4 |
A gene-based test of association through an orthogonal decomposition of genotype scores
|
Chen, Zhongxue
|
|
2017
|
|
10 |
p. 1385-1394
|
artikel
|
| 5 |
A genetic variant in the placenta-derived MHC class I chain-related gene A increases the risk of preterm birth in a Chinese population
|
Song, Junjiao
|
|
2017
|
|
10 |
p. 1375-1384
|
artikel
|
| 6 |
A lethal phenotype associated with tissue plasminogen deficiency in humans
|
Shamseldin, Hanan E.
|
|
2016
|
|
10 |
p. 1209-1211
|
artikel
|
| 7 |
Allowing for population stratification in case-only studies of gene–environment interaction, using genomic control
|
Yadav, Pankaj
|
|
2015
|
|
10 |
p. 1117-1125
|
artikel
|
| 8 |
A meta-analysis of two genome-wide association studies to identify novel loci for maximum number of alcoholic drinks
|
Kapoor, Manav
|
|
2013
|
|
10 |
p. 1141-1151
|
artikel
|
| 9 |
A multi-stage genome-wide association study of uterine fibroids in African Americans
|
Hellwege, Jacklyn N.
|
|
2017
|
|
10 |
p. 1363-1373
|
artikel
|
| 10 |
Ancestry-specific polygenic scores and SNP heritability of 25(OH)D in African- and European-ancestry populations
|
Hatchell, Kathryn E.
|
|
2019
|
|
10 |
p. 1155-1169
|
artikel
|
| 11 |
An exome-first approach to aid in the diagnosis of primary ciliary dyskinesia
|
Shamseldin, Hanan E.
|
|
|
|
10 |
p. 1273-1283
|
artikel
|
| 12 |
AP1S1 missense mutations cause a congenital enteropathy via an epithelial barrier defect
|
Klee, Katharina M. C.
|
|
|
|
10 |
p. 1247-1259
|
artikel
|
| 13 |
ASL expression in ALDH1A1+ neurons in the substantia nigra metabolically contributes to neurodegenerative phenotype
|
Lerner, Shaul
|
|
|
|
10 |
p. 1471-1485
|
artikel
|
| 14 |
Assessing efficiency of fine-mapping obesity-associated variants through leveraging ancestry architecture and functional annotation using PAGE and UKBB cohorts
|
Anwar, Mohammad Yaser
|
|
|
|
10 |
p. 1477-1489
|
artikel
|
| 15 |
Association, interaction, and replication analysis of genes encoding serotonin transporter and 5-HT3 receptor subunits A and B in alcohol dependence
|
Seneviratne, Chamindi
|
|
2013
|
|
10 |
p. 1165-1176
|
artikel
|
| 16 |
A truncating CLDN9 variant is associated with autosomal recessive nonsyndromic hearing loss
|
Sineni, Claire J.
|
|
2019
|
|
10 |
p. 1071-1075
|
artikel
|
| 17 |
Autosomal recessive diseases among the Israeli Arabs
|
Zlotogora, Joël
|
|
2019
|
|
10 |
p. 1117-1122
|
artikel
|
| 18 |
Breakpoints in complex chromosomal rearrangements correspond to transposase-accessible regions of DNA from mature sperm
|
Sugimoto, Takeshi
|
|
|
|
10 |
p. 1451-1460
|
artikel
|
| 19 |
Causation and causal inference for genetic effects
|
Vansteelandt, Stijn
|
|
2012
|
|
10 |
p. 1665-1676
|
artikel
|
| 20 |
Challenges and opportunities in genome-wide environmental interaction (GWEI) studies
|
Aschard, Hugues
|
|
2012
|
|
10 |
p. 1591-1613
|
artikel
|
| 21 |
Characterization of T gene sequence variants and germline duplications in familial and sporadic chordoma
|
Kelley, Michael J.
|
|
2014
|
|
10 |
p. 1289-1297
|
artikel
|
| 22 |
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct
|
Roux, Isabelle
|
|
|
|
10 |
p. 1499-1517
|
artikel
|
| 23 |
CIT, a gene involved in neurogenic cytokinesis, is mutated in human primary microcephaly
|
Basit, Sulman
|
|
2016
|
|
10 |
p. 1199-1207
|
artikel
|
| 24 |
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update
|
Sarquella-Brugada, Georgia
|
|
|
|
10 |
p. 1579-1589
|
artikel
|
| 25 |
COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans
|
Kitzler, Thomas M.
|
|
2019
|
|
10 |
p. 1105-1115
|
artikel
|
| 26 |
Colocalization of expression transcripts with COVID-19 outcomes is rare across cell states, cell types and organs
|
Willett, Julian Daniel Sunday
|
|
|
|
10 |
p. 1461-1476
|
artikel
|
| 27 |
Common polygenic variation contributes to risk of migraine in the Norfolk Island population
|
Rodriguez-Acevedo, A. J.
|
|
2015
|
|
10 |
p. 1079-1087
|
artikel
|
| 28 |
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus
|
Melo, Uirá Souto
|
|
|
|
10 |
p. 1459-1469
|
artikel
|
| 29 |
Computational interpretation of human genetic variation
|
Bromberg, Yana
|
|
|
|
10 |
p. 1545-1548
|
artikel
|
| 30 |
Correction to: Runs of homozygosity in sub-Saharan African populations provide insights into complex demographic histories
|
Ceballos, Francisco C.
|
|
2019
|
|
10 |
p. 1143-1144
|
artikel
|
| 31 |
Correction to: The study of human Y chromosome variation through ancient DNA
|
Kivisild, Toomas
|
|
2018
|
|
10 |
p. 863
|
artikel
|
| 32 |
CPAMD8 loss-of-function underlies non-dominant congenital glaucoma with variable anterior segment dysgenesis and abnormal extracellular matrix
|
Bonet-Fernández, Juan-Manuel
|
|
|
|
10 |
p. 1209-1231
|
artikel
|
| 33 |
De novo unbalanced translocations have a complex history/aetiology
|
Bonaglia, Maria Clara
|
|
2018
|
|
10 |
p. 817-829
|
artikel
|
| 34 |
Discovery of structural deletions in breast cancer predisposition genes using whole genome sequencing data from > 2000 women of African-ancestry
|
Chen, Zhishan
|
|
|
|
10 |
p. 1449-1457
|
artikel
|
| 35 |
Disease-associated human genetic variation through the lens of precursor and mature RNA structure
|
Waldern, Justin M.
|
|
|
|
10 |
p. 1659-1672
|
artikel
|
| 36 |
Dissecting the genetic history of the Roman Catholic populations of West Coast India
|
Kumar, Lomous
|
|
|
|
10 |
p. 1487-1498
|
artikel
|
| 37 |
Dyslexia-related loci are significantly associated with language and literacy in Chinese–English bilingual Hong Kong Chinese twins
|
Chung, Cheuk Yan
|
|
|
|
10 |
p. 1519-1529
|
artikel
|
| 38 |
Early medical genetics in Soviet Russia: its growth and destruction
|
Harper, Peter S.
|
|
2013
|
|
10 |
p. 1193-1196
|
artikel
|
| 39 |
Embeddings from protein language models predict conservation and variant effects
|
Marquet, Céline
|
|
|
|
10 |
p. 1629-1647
|
artikel
|
| 40 |
Environmental epigenetics: prospects for studying epigenetic mediation of exposure–response relationships
|
Cortessis, Victoria K.
|
|
2012
|
|
10 |
p. 1565-1589
|
artikel
|
| 41 |
Evaluating the relevance of sequence conservation in the prediction of pathogenic missense variants
|
Capriotti, Emidio
|
|
|
|
10 |
p. 1649-1658
|
artikel
|
| 42 |
Evidence for craniofacial enhancer variation underlying nonsyndromic cleft lip and palate
|
Morris, Vershanna E.
|
|
|
|
10 |
p. 1261-1272
|
artikel
|
| 43 |
Evidence that geographic variation in genetic ancestry associates with uterine fibroids
|
Keaton, Jacob M.
|
|
|
|
10 |
p. 1433-1440
|
artikel
|
| 44 |
Genetic alterations of δ-catenin/NPRAP/Neurojungin (CTNND2): functional implications in complex human diseases
|
Lu, Qun
|
|
2016
|
|
10 |
p. 1107-1116
|
artikel
|
| 45 |
Genetic associations of breast and prostate cancer are enriched for regulatory elements identified in disease-related tissues
|
Chen, Hongjie
|
|
2019
|
|
10 |
p. 1091-1104
|
artikel
|
| 46 |
Genetic variants in microRNA and microRNA biogenesis pathway genes and breast cancer risk among women of African ancestry
|
Qian, Frank
|
|
2016
|
|
10 |
p. 1145-1159
|
artikel
|
| 47 |
Genome interpretation using in silico predictors of variant impact
|
Katsonis, Panagiotis
|
|
|
|
10 |
p. 1549-1577
|
artikel
|
| 48 |
Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations
|
Bonnemaijer, Pieter W. M.
|
|
2018
|
|
10 |
p. 847-862
|
artikel
|
| 49 |
Genomic sequencing highlights the diverse molecular causes of Perrault syndrome: a peroxisomal disorder (PEX6), metabolic disorders (CLPP, GGPS1), and mtDNA maintenance/translation disorders (LARS2, TFAM)
|
Tucker, Elena J.
|
|
|
|
10 |
p. 1325-1343
|
artikel
|
| 50 |
GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates
|
Ouyang, Qing
|
|
2019
|
|
10 |
p. 1183-1200
|
artikel
|
| 51 |
Heritability in the genome-wide association era
|
Zaitlen, Noah
|
|
2012
|
|
10 |
p. 1655-1664
|
artikel
|
| 52 |
Human gene copy number variation and infectious disease
|
Hollox, Edward J.
|
|
2014
|
|
10 |
p. 1217-1233
|
artikel
|
| 53 |
Hypothesis-independent pathway analysis implicates GABA and Acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma
|
Bailey, Jessica N. Cooke
|
|
2014
|
|
10 |
p. 1319-1330
|
artikel
|
| 54 |
Identification of an atypical microdeletion generating the RNF135-SUZ12 chimeric gene and causing a position effect in an NF1 patient with overgrowth
|
Ferrari, Luca
|
|
2017
|
|
10 |
p. 1329-1339
|
artikel
|
| 55 |
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2
|
Henden, Lyndal
|
|
2016
|
|
10 |
p. 1117-1125
|
artikel
|
| 56 |
Immunoglobulin G genotypes and the risk of schizophrenia
|
Pandey, Janardan P.
|
|
2016
|
|
10 |
p. 1175-1179
|
artikel
|
| 57 |
Implication of non-coding PAX6 mutations in aniridia
|
Plaisancié, Julie
|
|
2018
|
|
10 |
p. 831-846
|
artikel
|
| 58 |
Integration of biological networks and pathways with genetic association studies
|
Sun, Yan V.
|
|
2012
|
|
10 |
p. 1677-1686
|
artikel
|
| 59 |
Investigating the genetic relationship between Alzheimer’s disease and cancer using GWAS summary statistics
|
Feng, Yen-Chen Anne
|
|
2017
|
|
10 |
p. 1341-1351
|
artikel
|
| 60 |
Investigation of genes important in neurodevelopment disorders in adult human brain
|
Maussion, Gilles
|
|
2015
|
|
10 |
p. 1037-1053
|
artikel
|
| 61 |
Knockout of ush2a gene in zebrafish causes hearing impairment and late onset rod-cone dystrophy
|
Han, Shanshan
|
|
2018
|
|
10 |
p. 779-794
|
artikel
|
| 62 |
Missing heritability of common diseases and treatments outside the protein-coding exome
|
Sadee, Wolfgang
|
|
2014
|
|
10 |
p. 1199-1215
|
artikel
|
| 63 |
Missing heritability of common diseases and treatments outside the protein-coding exome
|
Sadee, Wolfgang
|
|
|
|
10 |
p. 1199-1215
|
artikel
|
| 64 |
Modifiers of (CAG)n instability in Machado–Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes
|
Martins, Sandra
|
|
2014
|
|
10 |
p. 1311-1318
|
artikel
|
| 65 |
MtDNA genomes reveal a relaxation of selective constraints in low-BMI individuals in a Uyghur population
|
Zheng, Hong-Xiang
|
|
2017
|
|
10 |
p. 1353-1362
|
artikel
|
| 66 |
Mutations in CIT, encoding citron rho-interacting serine/threonine kinase, cause severe primary microcephaly in humans
|
Shaheen, Ranad
|
|
2016
|
|
10 |
p. 1191-1197
|
artikel
|
| 67 |
Mutations in human IFT140 cause non-syndromic retinal degeneration
|
Xu, Mingchu
|
|
2015
|
|
10 |
p. 1069-1078
|
artikel
|
| 68 |
Mutations of 60 known causative genes in 157 families with retinitis pigmentosa based on exome sequencing
|
Xu, Yan
|
|
2014
|
|
10 |
p. 1255-1271
|
artikel
|
| 69 |
Next generation modeling in GWAS: comparing different genetic architectures
|
López de Maturana, Evangelina
|
|
2014
|
|
10 |
p. 1235-1253
|
artikel
|
| 70 |
Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith–Magenis syndrome with evident peripheral neuropathy
|
Yuan, Bo
|
|
2016
|
|
10 |
p. 1161-1174
|
artikel
|
| 71 |
Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12–q13.3
|
Xiao, Xueshan
|
|
2019
|
|
10 |
p. 1077-1090
|
artikel
|
| 72 |
Personalised medicine and population health: breast and ovarian cancer
|
Narod, Steven A.
|
|
2018
|
|
10 |
p. 769-778
|
artikel
|
| 73 |
Personalized medicine using DNA biomarkers: a review
|
Ziegler, Andreas
|
|
2012
|
|
10 |
p. 1627-1638
|
artikel
|
| 74 |
Polymorphism of DEFA in Chinese Han population with IgA nephropathy
|
Xu, Ricong
|
|
2014
|
|
10 |
p. 1299-1309
|
artikel
|
| 75 |
Population and genomic lessons from genetic analysis of two Indian populations
|
Juyal, Garima
|
|
2014
|
|
10 |
p. 1273-1287
|
artikel
|
| 76 |
Population and genomic lessons from genetic analysis of two Indian populations
|
Juyal, Garima
|
|
|
|
10 |
p. 1273-1287
|
artikel
|
| 77 |
Predicting embryonic aneuploidy rate in IVF patients using whole-exome sequencing
|
Sun, Siqi
|
|
|
|
10 |
p. 1615-1627
|
artikel
|
| 78 |
Prioritizing de novo autism risk variants with calibrated gene- and variant-scoring models
|
Jiang, Yuxiang
|
|
|
|
10 |
p. 1595-1613
|
artikel
|
| 79 |
Publisher Correction: Gene expression levels modulate germline mutation rates through the compound effects of transcription-coupled repair and damage
|
Xia, Bo
|
|
|
|
10 |
p. 1695
|
artikel
|
| 80 |
Publisher Correction: Predicting functional consequences of mutations using molecular interaction network features
|
Ozturk, Kivilcim
|
|
|
|
10 |
p. 1593
|
artikel
|
| 81 |
Publisher Correction: Revealing modifier variations characterizations for elucidating the genetic basis of human phenotypic variations
|
Sun, Hong
|
|
|
|
10 |
p. 1591
|
artikel
|
| 82 |
Rare loss of function variants in candidate genes and risk of colorectal cancer
|
Rosenthal, Elisabeth A.
|
|
2018
|
|
10 |
p. 795-806
|
artikel
|
| 83 |
Rare variant modifier analysis identifies variants in SEC24D associated with orofacial cleft subtypes
|
Curtis, Sarah W.
|
|
|
|
10 |
p. 1531-1541
|
artikel
|
| 84 |
Rare variants and loci for age-related macular degeneration in the Ohio and Indiana Amish
|
Waksmunski, Andrea R.
|
|
2019
|
|
10 |
p. 1171-1182
|
artikel
|
| 85 |
Recent advances in assays for the fragile X-related disorders
|
Hayward, Bruce E.
|
|
2017
|
|
10 |
p. 1313-1327
|
artikel
|
| 86 |
Replication of a rare risk haplotype on 1p36.33 for autism spectrum disorder
|
Chapman, N. H.
|
|
2018
|
|
10 |
p. 807-815
|
artikel
|
| 87 |
Responses to booster hepatitis B vaccination are significantly correlated with genotypes of human leukocyte antigen (HLA)-DPB1 in neonatally vaccinated adolescents
|
Wu, Tzu-Wei
|
|
2013
|
|
10 |
p. 1131-1139
|
artikel
|
| 88 |
Restriction enzyme selection dictates detection range sensitivity in chromatin conformation capture-based variant-to-gene mapping approaches
|
Su, Chun
|
|
|
|
10 |
p. 1441-1448
|
artikel
|
| 89 |
Retraction Note: EDAR, LYPLAL1, PRDM16, PAX3, DKK1, TNFSF12, CACNA2D3, and SUPT3H gene variants influence facial morphology in a Eurasian population
|
Li, Yi
|
|
|
|
10 |
p. 1499
|
artikel
|
| 90 |
Risk estimation and risk prediction using machine-learning methods
|
Kruppa, Jochen
|
|
2012
|
|
10 |
p. 1639-1654
|
artikel
|
| 91 |
Runs of homozygosity in sub-Saharan African populations provide insights into complex demographic histories
|
Ceballos, Francisco C.
|
|
2019
|
|
10 |
p. 1123-1142
|
artikel
|
| 92 |
Sequencing of candidate genes in Dominican families implicates both rare exonic and common non-exonic variants for carotid intima-media thickness at bifurcation
|
Wang, Liyong
|
|
2015
|
|
10 |
p. 1127-1138
|
artikel
|
| 93 |
Signatures of genetic variation in human microRNAs point to processes of positive selection and population-specific disease risks
|
Villegas-Mirón, Pablo
|
|
|
|
10 |
p. 1673-1693
|
artikel
|
| 94 |
Somatic mutations in planar cell polarity genes in neural tissue from human fetuses with neural tube defects
|
Tian, Tian
|
|
|
|
10 |
p. 1299-1314
|
artikel
|
| 95 |
‘Splitting versus lumping’: Temple–Baraitser and Zimmermann–Laband Syndromes
|
Bramswig, Nuria C.
|
|
2015
|
|
10 |
p. 1089-1097
|
artikel
|
| 96 |
Study designs and methods post genome-wide association studies
|
Ziegler, Andreas
|
|
2012
|
|
10 |
p. 1525-1531
|
artikel
|
| 97 |
Systematic microsatellite repeat expansion cloning and validation
|
Rohilla, Kushal J.
|
|
|
|
10 |
p. 1233-1246
|
artikel
|
| 98 |
SZDB2.0: an updated comprehensive resource for schizophrenia research
|
Wu, Yong
|
|
|
|
10 |
p. 1285-1297
|
artikel
|
| 99 |
T (brachyury) is linked to a Mendelian form of neural tube defects in humans
|
Shaheen, Ranad
|
|
2015
|
|
10 |
p. 1139-1141
|
artikel
|
| 100 |
The adaptive variant EDARV370A is associated with straight hair in East Asians
|
Tan, Jingze
|
|
2013
|
|
10 |
p. 1187-1191
|
artikel
|
| 101 |
The clinical utility of exome and genome sequencing across clinical indications: a systematic review
|
Shickh, Salma
|
|
|
|
10 |
p. 1403-1416
|
artikel
|
| 102 |
The genetic history of Cochin Jews from India
|
Waldman, Yedael Y.
|
|
2016
|
|
10 |
p. 1127-1143
|
artikel
|
| 103 |
The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting
|
Stenson, Peter D.
|
|
|
|
10 |
p. 1197-1207
|
artikel
|
| 104 |
The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability
|
Vandewalle, Joke
|
|
2013
|
|
10 |
p. 1177-1185
|
artikel
|
| 105 |
The natural history, clinical outcomes, and genotype–phenotype relationship of otoferlin-related hearing loss: a systematic, quantitative literature review
|
Ford, Charles L.
|
|
|
|
10 |
p. 1429-1449
|
artikel
|
| 106 |
The new sequencer on the block: comparison of Life Technology’s Proton sequencer to an Illumina HiSeq for whole-exome sequencing
|
Boland, Joseph F.
|
|
2013
|
|
10 |
p. 1153-1163
|
artikel
|
| 107 |
The nuclear localization pattern and interaction partners of GTF2IRD1 demonstrate a role in chromatin regulation
|
Carmona-Mora, Paulina
|
|
2015
|
|
10 |
p. 1099-1115
|
artikel
|
| 108 |
The rare 13q33–q34 microdeletions: eight new patients and review of the literature
|
Sagi-Dain, Lena
|
|
2019
|
|
10 |
p. 1145-1153
|
artikel
|
| 109 |
The role of large pedigrees in an era of high-throughput sequencing
|
Wijsman, Ellen M.
|
|
2012
|
|
10 |
p. 1555-1563
|
artikel
|
| 110 |
The role of phenotype in gene discovery in the whole genome sequencing era
|
Almasy, Laura
|
|
2012
|
|
10 |
p. 1533-1540
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