| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome
|
Pohl, Esther
|
|
2013
|
|
11 |
p. 1311-1320
|
artikel
|
| 2 |
A knockout mutation associated with juvenile paroxysmal dyskinesia in Markiesje dogs indicates SOD1 pleiotropy
|
Mandigers, P. J. J.
|
|
|
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11 |
p. 1547-1552
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artikel
|
| 3 |
A 1.35 Mb DNA fragment is inserted into the DHMN1 locus on chromosome 7q34–q36.2
|
Drew, Alexander P.
|
|
2016
|
|
11 |
p. 1269-1278
|
artikel
|
| 4 |
A missense variant in IFT122 associated with a canine model of retinitis pigmentosa
|
Kaukonen, Maria
|
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11 |
p. 1569-1579
|
artikel
|
| 5 |
ANKS3 is mutated in a family with autosomal recessive laterality defect
|
Shamseldin, Hanan E.
|
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2016
|
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11 |
p. 1233-1239
|
artikel
|
| 6 |
A novel rearrangement of occludin causes brain calcification and renal dysfunction
|
LeBlanc, Marissa A.
|
|
2013
|
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11 |
p. 1223-1234
|
artikel
|
| 7 |
A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration
|
Ekenstedt, Kari J.
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|
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11 |
p. 1587-1601
|
artikel
|
| 8 |
Association of kidney structure-related gene variants with type 2 diabetes-attributed end-stage kidney disease in African Americans
|
Guan, Meijian
|
|
2016
|
|
11 |
p. 1251-1262
|
artikel
|
| 9 |
ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy
|
Zhou, Gao-Hui
|
|
|
|
11 |
p. 1391-1401
|
artikel
|
| 10 |
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East
|
Palombo, Flavia
|
|
|
|
11 |
p. 1429-1441
|
artikel
|
| 11 |
Bi-allelic missense disease-causing variants in RPL3L associate neonatal dilated cardiomyopathy with muscle-specific ribosome biogenesis
|
Ganapathi, Mythily
|
|
|
|
11 |
p. 1443-1454
|
artikel
|
| 12 |
Canine DVL2 variant contributes to brachycephalic phenotype and caudal vertebral anomalies
|
Niskanen, Julia E.
|
|
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|
11 |
p. 1535-1545
|
artikel
|
| 13 |
Characterization of a novel missense mutation in the prodomain of GDF5, which underlies brachydactyly type C and mild Grebe type chondrodysplasia in a large Pakistani family
|
Farooq, Muhammad
|
|
2013
|
|
11 |
p. 1253-1264
|
artikel
|
| 14 |
Circulating DNA reveals a specific and higher fragmentation of the Y chromosome
|
Thierry, Alain R.
|
|
|
|
11 |
p. 1603-1609
|
artikel
|
| 15 |
Common genetic variants associated with lipid profiles in a Chinese pediatric population
|
Shen, Yue
|
|
2013
|
|
11 |
p. 1275-1285
|
artikel
|
| 16 |
Common genetic variation in and near the melanocortin 4 receptor gene (MC4R) is associated with body mass index in American Indian adults and children
|
Muller, Yunhua L.
|
|
2014
|
|
11 |
p. 1431-1441
|
artikel
|
| 17 |
Common vitamin D pathway gene variants reveal contrasting effects on serum vitamin D levels in African Americans and European Americans
|
Batai, Ken
|
|
2014
|
|
11 |
p. 1395-1405
|
artikel
|
| 18 |
Co-segregation of trichorhinophalangeal syndrome with a t(8;13)(q23.3;q21.31) familial translocation that appears to increase TRPS1 gene expression
|
David, Dezső
|
|
2013
|
|
11 |
p. 1287-1299
|
artikel
|
| 19 |
CYP26B1-related disorder: expanding the ends of the spectrum through clinical and molecular evidence
|
Silveira, Karina C.
|
|
|
|
11 |
p. 1571-1586
|
artikel
|
| 20 |
De novo MECP2 duplications in two females with intellectual disability and unfavorable complete skewed X-inactivation
|
Fieremans, Nathalie
|
|
2014
|
|
11 |
p. 1359-1367
|
artikel
|
| 21 |
De novo mutations in FBRSL1 cause a novel recognizable malformation and intellectual disability syndrome
|
Ufartes, Roser
|
|
|
|
11 |
p. 1363-1379
|
artikel
|
| 22 |
Detecting genomic clustering of risk variants from sequence data: cases versus controls
|
Schaid, Daniel J.
|
|
2013
|
|
11 |
p. 1301-1309
|
artikel
|
| 23 |
DHH pathogenic variants involved in 46,XY disorders of sex development differentially impact protein self-cleavage and structural conformation
|
Elzaiat, Maëva
|
|
|
|
11 |
p. 1455-1470
|
artikel
|
| 24 |
Differentially co-expressed genes in postmortem prefrontal cortex of individuals with alcohol use disorders: influence on alcohol metabolism-related pathways
|
Zhang, Huiping
|
|
2014
|
|
11 |
p. 1383-1394
|
artikel
|
| 25 |
Erratum to: A hypofunctional PAX1 mutation causes autosomal recessively inherited otofaciocervical syndrome
|
Pohl, Esther
|
|
2013
|
|
11 |
p. 1321
|
artikel
|
| 26 |
Evolutionary history of type II transmembrane serine proteases involved in viral priming
|
Forni, Diego
|
|
|
|
11 |
p. 1705-1722
|
artikel
|
| 27 |
Frequency of actionable secondary findings in 7472 Korean genomes derived from the National Project of Bio Big Data pilot study
|
Kim, Youngjun
|
|
|
|
11 |
p. 1561-1569
|
artikel
|
| 28 |
Further characterization of ATP6V0A2-related autosomal recessive cutis laxa
|
Fischer, Björn
|
|
2012
|
|
11 |
p. 1761-1773
|
artikel
|
| 29 |
FUS-linked essential tremor associated with motor dysfunction in Drosophila
|
Tio, Murni
|
|
2016
|
|
11 |
p. 1223-1232
|
artikel
|
| 30 |
Genetic genealogy uncovers a founder deletion mutation in the cerebral cavernous malformations 2 gene
|
Gallione, Carol J.
|
|
|
|
11 |
p. 1761-1769
|
artikel
|
| 31 |
Genetic markers of ovarian follicle number and menopause in women of multiple ethnicities
|
Schuh-Huerta, Sonya M.
|
|
2012
|
|
11 |
p. 1709-1724
|
artikel
|
| 32 |
Genetic polymorphisms associated with rubella virus-specific cellular immunity following MMR vaccination
|
Kennedy, Richard B.
|
|
2014
|
|
11 |
p. 1407-1417
|
artikel
|
| 33 |
Genetic polymorphisms associated with rubella virus-specific cellular immunity following MMR vaccination
|
Kennedy, Richard B.
|
|
|
|
11 |
p. 1407-1417
|
artikel
|
| 34 |
Genetic variation in MDR1, LPL and eNOS genes and the response to atorvastatin treatment in ischemic stroke
|
Munshi, Anjana
|
|
2012
|
|
11 |
p. 1775-1781
|
artikel
|
| 35 |
Genome-wide analysis of copy number variations reveals that aging processes influence body fat distribution in Korea Associated Resource (KARE) cohorts
|
Lee, Bo-Young
|
|
2012
|
|
11 |
p. 1795-1804
|
artikel
|
| 36 |
Genome-wide scans reveal variants at EDAR predominantly affecting hair straightness in Han Chinese and Uyghur populations
|
Wu, Sijie
|
|
2016
|
|
11 |
p. 1279-1286
|
artikel
|
| 37 |
Homozygous KCNMA1 mutation as a cause of cerebellar atrophy, developmental delay and seizures
|
Tabarki, Brahim
|
|
2016
|
|
11 |
p. 1295-1298
|
artikel
|
| 38 |
Homozygous missense mutation in CCDC155 disrupts the transmembrane distribution of CCDC155 and SUN1, resulting in non-obstructive azoospermia and premature ovarian insufficiency in humans
|
Wu, Huan
|
|
|
|
11 |
p. 1795-1809
|
artikel
|
| 39 |
Homozygous variants in CDC23 cause female infertility characterized by oocyte maturation defects
|
Fan, Huizhen
|
|
|
|
11 |
p. 1621-1631
|
artikel
|
| 40 |
How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism
|
Xu, Wanxue
|
|
|
|
11 |
p. 1611-1619
|
artikel
|
| 41 |
Identification of a homozygous splice site mutation in the dynein axonemal light chain 4 gene on 22q13.1 in a large consanguineous family from Pakistan with congenital mirror movement disorder
|
Ahmed, Iltaf
|
|
2014
|
|
11 |
p. 1419-1429
|
artikel
|
| 42 |
Identification of aneuploidy in dogs screened by a SNP microarray
|
Shaffer, Lisa G.
|
|
|
|
11 |
p. 1619-1624
|
artikel
|
| 43 |
Identification of a novel missense mutation in the fibroblast growth factor 5 gene associated with longhair in the Maine Coon Cat
|
Shaffer, Griffin D.
|
|
|
|
11 |
p. 1517-1523
|
artikel
|
| 44 |
Identification of novel genetic variants associated with short stature in a Baka Pygmies population
|
Zoccolillo, Matteo
|
|
|
|
11 |
p. 1471-1483
|
artikel
|
| 45 |
Identification of susceptibility gene associated with female primary Sjögren’s syndrome in Han Chinese by genome-wide association study
|
Song, I-Wen
|
|
2016
|
|
11 |
p. 1287-1294
|
artikel
|
| 46 |
Improving the power of genetic association tests with imperfect phenotype derived from electronic medical records
|
Sinnott, Jennifer A.
|
|
2014
|
|
11 |
p. 1369-1382
|
artikel
|
| 47 |
In-frame deletion in canine PITRM1 is associated with a severe early-onset epilepsy, mitochondrial dysfunction and neurodegeneration
|
Hytönen, Marjo K.
|
|
|
|
11 |
p. 1593-1609
|
artikel
|
| 48 |
Intronic variant in POU1F1 associated with canine pituitary dwarfism
|
Kyöstilä, Kaisa
|
|
|
|
11 |
p. 1553-1562
|
artikel
|
| 49 |
Leveraging molecular quantitative trait loci to comprehend complex diseases/traits from the omics perspective
|
Zhu, Zijun
|
|
|
|
11 |
p. 1543-1560
|
artikel
|
| 50 |
Low-pass genome sequencing: a validated method in clinical cytogenetics
|
Chau, Matthew Hoi Kin
|
|
|
|
11 |
p. 1403-1415
|
artikel
|
| 51 |
Missense variant in LOXHD1 is associated with canine nonsyndromic hearing loss
|
Hytönen, Marjo K.
|
|
|
|
11 |
p. 1611-1618
|
artikel
|
| 52 |
Monogenic causes of pigmentary mosaicism
|
Saida, Ken
|
|
|
|
11 |
p. 1771-1784
|
artikel
|
| 53 |
Multiple rare variants in high-risk pancreatic cancer-related genes may increase risk for pancreatic cancer in a subset of patients with and without germline CDKN2A mutations
|
Yang, Xiaohong R.
|
|
2016
|
|
11 |
p. 1241-1249
|
artikel
|
| 54 |
MuPIT interactive: webserver for mapping variant positions to annotated, interactive 3D structures
|
Niknafs, Noushin
|
|
2013
|
|
11 |
p. 1235-1243
|
artikel
|
| 55 |
Mutation in SLC6A9 encoding a glycine transporter causes a novel form of non-ketotic hyperglycinemia in humans
|
Alfadhel, Majid
|
|
2016
|
|
11 |
p. 1263-1268
|
artikel
|
| 56 |
Mutations in the sarcosine dehydrogenase gene in patients with sarcosinemia
|
Bar-joseph, Ifat
|
|
2012
|
|
11 |
p. 1805-1810
|
artikel
|
| 57 |
Nasal chondromesenchymal hamartomas arise secondary to germline and somatic mutations of DICER1 in the pleuropulmonary blastoma tumor predisposition disorder
|
Stewart, Douglas R.
|
|
2014
|
|
11 |
p. 1443-1450
|
artikel
|
| 58 |
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond–Blackfan anemia
|
Landowski, Michael
|
|
2013
|
|
11 |
p. 1265-1274
|
artikel
|
| 59 |
Novel neurodevelopmental information revealed in amniotic fluid supernatant transcripts from fetuses with trisomies 18 and 21
|
Hui, Lisa
|
|
2012
|
|
11 |
p. 1751-1759
|
artikel
|
| 60 |
Parkinson disease loci in the mid-western Amish
|
Davis, M. F.
|
|
2013
|
|
11 |
p. 1213-1221
|
artikel
|
| 61 |
Population-based meta-analysis in Caucasians confirms association with COL5A1 and ZNF469 but not COL8A2 with central corneal thickness
|
Hoehn, René
|
|
2012
|
|
11 |
p. 1783-1793
|
artikel
|
| 62 |
Practical aspects of genome-wide association interaction analysis
|
Gusareva, Elena S.
|
|
2014
|
|
11 |
p. 1343-1358
|
artikel
|
| 63 |
Predicting genes from phenotypes using human phenotype ontology (HPO) terms
|
Slavotinek, Anne
|
|
|
|
11 |
p. 1749-1760
|
artikel
|
| 64 |
Radiographical Survey of Osteochondrodysplasia in Scottish Fold Cats caused by the TRPV4 gene variant
|
Rorden, Chris
|
|
|
|
11 |
p. 1525-1534
|
artikel
|
| 65 |
Rare variant association testing in the non-coding genome
|
Bocher, Ozvan
|
|
|
|
11 |
p. 1345-1362
|
artikel
|
| 66 |
Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders
|
Tran Mau-Them, Frederic
|
|
|
|
11 |
p. 1381-1390
|
artikel
|
| 67 |
Serum vitamins A and E as modifiers of lipid trait genetics in the National Health and Nutrition Examination Surveys as part of the Population Architecture using Genomics and Epidemiology (PAGE) study
|
Dumitrescu, Logan
|
|
2012
|
|
11 |
p. 1699-1708
|
artikel
|
| 68 |
Special issue on companion animal genetics: Novel variants discovered in wide variety of diseases in dogs, identification and further characterization of traits in dogs and cats, and the use of microarrays in the detection of aneuploidy in dogs
|
Shaffer, Lisa G.
|
|
|
|
11 |
p. 1501-1503
|
artikel
|
| 69 |
Strong purifying selection against gene conversions in the trypsin genes of primates
|
Petronella, Nicholas
|
|
2012
|
|
11 |
p. 1739-1749
|
artikel
|
| 70 |
The application of next-generation sequencing in the autozygosity mapping of human recessive diseases
|
Alkuraya, Fowzan S.
|
|
2013
|
|
11 |
p. 1197-1211
|
artikel
|
| 71 |
The clinical utility of polygenic risk scores in genomic medicine practices: a systematic review
|
Kumuthini, Judit
|
|
|
|
11 |
p. 1697-1704
|
artikel
|
| 72 |
The distinct and overlapping phenotypic spectra of FOXP1 and FOXP2 in cognitive disorders
|
Bacon, Claire
|
|
2012
|
|
11 |
p. 1687-1698
|
artikel
|
| 73 |
The involvement of U-type dicentric chromosomes in the formation of terminal deletions with or without adjacent inverted duplications
|
Kato, Takema
|
|
|
|
11 |
p. 1417-1427
|
artikel
|
| 74 |
The PMEL gene and merle (dapple) in the dachshund: cryptic, hidden, and mosaic variants demonstrate the need for genetic testing prior to breeding
|
Ballif, Blake C.
|
|
|
|
11 |
p. 1581-1591
|
artikel
|
| 75 |
TMEM43 mutations associated with arrhythmogenic right ventricular cardiomyopathy in non-Newfoundland populations
|
Baskin, Berivan
|
|
2013
|
|
11 |
p. 1245-1252
|
artikel
|
| 76 |
Traditional and targeted exome sequencing reveals common, rare and novel functional deleterious variants in RET-signaling complex in a cohort of living US patients with urinary tract malformations
|
Chatterjee, Rajshekhar
|
|
2012
|
|
11 |
p. 1725-1738
|
artikel
|
| 77 |
Transmission ratio distortion of mutations in the master regulator of centriole biogenesis PLK4
|
Neitzel, Heidemarie
|
|
|
|
11 |
p. 1785-1794
|
artikel
|
| 78 |
Use of whole genome analysis to identify shared genomic variants across breeds in canine mitral valve disease
|
Williams, Brian
|
|
|
|
11 |
p. 1563-1568
|
artikel
|
| 79 |
Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants
|
Velde, Hedwig M.
|
|
|
|
11 |
p. 1723-1738
|
artikel
|
| 80 |
Using familial information for variant filtering in high-throughput sequencing studies
|
Bahlo, Melanie
|
|
2014
|
|
11 |
p. 1331-1341
|
artikel
|
| 81 |
Uterine fibroid polygenic risk score (PRS) associates and predicts risk for uterine fibroid
|
Piekos, Jacqueline A.
|
|
|
|
11 |
p. 1739-1748
|
artikel
|
| 82 |
Web resource on available DNA variant tests for hereditary diseases and genetic predispositions in dogs and cats: An Update
|
Rokhsar, Jennifer L.
|
|
|
|
11 |
p. 1505-1515
|
artikel
|
| 83 |
Whole-genome sequencing in French Canadians from Quebec
|
Low-Kam, Cécile
|
|
2016
|
|
11 |
p. 1213-1221
|
artikel
|
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