| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
Additive-effect pattern of both ZP2 and ZP3 in human and mouse
|
Liu, Wenqiang
|
|
2017
|
|
11-12 |
p. 1493-1495
|
artikel
|
| 2 |
A functional strategy to characterize expression Quantitative Trait Loci
|
Grassi, Elena
|
|
2017
|
|
11-12 |
p. 1477-1487
|
artikel
|
| 3 |
A genome-wide association study for colorectal cancer identifies a risk locus in 14q23.1
|
Lemire, Mathieu
|
|
2015
|
|
11-12 |
p. 1249-1262
|
artikel
|
| 4 |
Analyses of LMNA-negative juvenile progeroid cases confirms biallelic POLR3A mutations in Wiedemann–Rautenstrauch-like syndrome and expands the phenotypic spectrum of PYCR1 mutations
|
Lessel, Davor
|
|
2018
|
|
11-12 |
p. 921-939
|
artikel
|
| 5 |
A novel homozygous RTEL1 variant in a consanguineous Lebanese family: phenotypic heterogeneity and disease anticipation
|
Gutierrez-Rodrigues, Fernanda
|
|
|
|
11-12 |
p. 1323-1330
|
artikel
|
| 6 |
A review of genome-wide association studies for multiple sclerosis: classical and hypothesis-driven approaches
|
Bashinskaya, V. V.
|
|
2015
|
|
11-12 |
p. 1143-1162
|
artikel
|
| 7 |
Arteriovenous malformation associated with a HRAS mutation
|
Konczyk, Dennis J.
|
|
|
|
11-12 |
p. 1419-1421
|
artikel
|
| 8 |
Association between telomere length and chromosome 21 nondisjunction in the oocyte
|
Albizua, I.
|
|
2015
|
|
11-12 |
p. 1263-1270
|
artikel
|
| 9 |
Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype
|
Szafranski, Przemyslaw
|
|
|
|
11-12 |
p. 1301-1311
|
artikel
|
| 10 |
Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder
|
Okur, Volkan
|
|
|
|
11-12 |
p. 1259-1266
|
artikel
|
| 11 |
Characterization of GJB2 cis-regulatory elements in the DFNB1 locus
|
Moisan, Stéphanie
|
|
|
|
11-12 |
p. 1275-1286
|
artikel
|
| 12 |
Chromosome 18 gene dosage map 2.0
|
Cody, Jannine D.
|
|
2018
|
|
11-12 |
p. 961-970
|
artikel
|
| 13 |
Complement component 4 variations may influence psychopathology risk in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency
|
Lao, Qizong
|
|
2018
|
|
11-12 |
p. 955-960
|
artikel
|
| 14 |
Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD)
|
Llaci, Lorida
|
|
|
|
11-12 |
p. 1409-1417
|
artikel
|
| 15 |
Computational functional genomics based analysis of pain-relevant micro-RNAs
|
Lötsch, Jörn
|
|
2015
|
|
11-12 |
p. 1221-1238
|
artikel
|
| 16 |
Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene
|
Ishibashi, Minaka
|
|
2015
|
|
11-12 |
p. 1163-1182
|
artikel
|
| 17 |
Creation of miniature pig model of human Waardenburg syndrome type 2A by ENU mutagenesis
|
Hai, Tang
|
|
2017
|
|
11-12 |
p. 1463-1475
|
artikel
|
| 18 |
CRISPR/Cas9 facilitates genomic editing for large-scale functional studies in pluripotent stem cell cultures
|
Li, Xiao-Fei
|
|
|
|
11-12 |
p. 1217-1225
|
artikel
|
| 19 |
Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair
|
Horga, Alejandro
|
|
|
|
11-12 |
p. 1313-1322
|
artikel
|
| 20 |
Enrichment of putatively damaging rare variants in the DYX2 locus and the reading-related genes CCDC136 and FLNC
|
Adams, Andrew K.
|
|
2017
|
|
11-12 |
p. 1395-1405
|
artikel
|
| 21 |
Erratum to: A multi-stage genome-wide association study of uterine fibroids in African Americans
|
Hellwege, Jacklyn N.
|
|
2017
|
|
11-12 |
p. 1497-1498
|
artikel
|
| 22 |
Expanding the genetic heterogeneity of intellectual disability
|
Anazi, Shams
|
|
2017
|
|
11-12 |
p. 1419-1429
|
artikel
|
| 23 |
Expanding the spectrum of germline variants in cancer
|
Siraj, Abdul K.
|
|
2017
|
|
11-12 |
p. 1431-1444
|
artikel
|
| 24 |
First genome-wide association study of non-severe malaria in two birth cohorts in Benin
|
Milet, Jacqueline
|
|
|
|
11-12 |
p. 1341-1357
|
artikel
|
| 25 |
“Gardner and Sutherland’s chromosome abnormalities and genetic counseling” by R.J. McKinlay Gardner, David J. Amor. Oxford University Press
|
Corrin, Sian
|
|
2018
|
|
11-12 |
p. 971
|
artikel
|
| 26 |
Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci
|
Shah, Rupal L.
|
|
2018
|
|
11-12 |
p. 881-896
|
artikel
|
| 27 |
Genome-wide compound heterozygote analysis highlights alleles associated with adult height in Europeans
|
Zhong, Kaiyin
|
|
2017
|
|
11-12 |
p. 1407-1417
|
artikel
|
| 28 |
Ghazi M Rayan and Joseph Upton III: Congenital Hand Anomalies and Associated Syndromes
|
Newbury-Ecob, Ruth
|
|
2015
|
|
11-12 |
p. 1271
|
artikel
|
| 29 |
Heritabilities, proportions of heritabilities explained by GWAS findings, and implications of cross-phenotype effects on PR interval
|
Silva, Claudia Tamar
|
|
2015
|
|
11-12 |
p. 1211-1219
|
artikel
|
| 30 |
High-throughput transcriptome analysis reveals that the loss of Pten activates a novel NKX6-1/RASGRP1 regulatory module to rescue microphthalmia caused by Fgfr2-deficient lenses
|
Padula, Stephanie L.
|
|
|
|
11-12 |
p. 1391-1407
|
artikel
|
| 31 |
Legacy samples in Finnish biobanks: social and legal issues related to the transfer of old sample collections into biobanks
|
Salokannel, Marjut
|
|
|
|
11-12 |
p. 1287-1299
|
artikel
|
| 32 |
Legacy samples in Finnish biobanks: social and legal issues related to the transfer of old sample collections into biobanks
|
Salokannel, Marjut
|
|
|
|
11-12 |
p. 1287-1299
|
artikel
|
| 33 |
Legacy samples in Finnish biobanks: social and legal issues related to the transfer of old sample collections into biobanks
|
Salokannel, Marjut
|
|
|
|
11-12 |
p. 1287-1299
|
artikel
|
| 34 |
Long-read sequencing in deciphering human genetics to a greater depth
|
Midha, Mohit K.
|
|
|
|
11-12 |
p. 1201-1215
|
artikel
|
| 35 |
Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype
|
Shelihan, Ivan
|
|
2018
|
|
11-12 |
p. 905-909
|
artikel
|
| 36 |
MDH1 deficiency is a metabolic disorder of the malate–aspartate shuttle associated with early onset severe encephalopathy
|
Broeks, Melissa H.
|
|
|
|
11-12 |
p. 1247-1257
|
artikel
|
| 37 |
Mixed Blessings from a Cambridge Union, Elizabeth N Anionwu
|
Harper, Peter S.
|
|
2018
|
|
11-12 |
p. 973
|
artikel
|
| 38 |
Mutant GNLY is linked to Stevens–Johnson syndrome and toxic epidermal necrolysis
|
Fonseca, Dora Janeth
|
|
|
|
11-12 |
p. 1267-1274
|
artikel
|
| 39 |
Mutational signatures and mutagenic impacts associated with betel quid chewing in oral squamous cell carcinoma
|
Su, Shih-Chi
|
|
|
|
11-12 |
p. 1379-1389
|
artikel
|
| 40 |
Mutation in CEP63 co-segregating with developmental dyslexia in a Swedish family
|
Einarsdottir, Elisabet
|
|
2015
|
|
11-12 |
p. 1239-1248
|
artikel
|
| 41 |
Mutations of PTPN23 in developmental and epileptic encephalopathy
|
Sowada, Nadine
|
|
2017
|
|
11-12 |
p. 1455-1461
|
artikel
|
| 42 |
Pervasive pleiotropy between psychiatric disorders and immune disorders revealed by integrative analysis of multiple GWAS
|
Wang, Qian
|
|
2015
|
|
11-12 |
p. 1195-1209
|
artikel
|
| 43 |
Phenome-wide association study of TTR and RBP4 genes in 361,194 individuals reveals novel insights in the genetics of hereditary and wildtype transthyretin amyloidoses
|
Lillo, Antonella De
|
|
|
|
11-12 |
p. 1331-1340
|
artikel
|
| 44 |
Rare variants in FANCA induce premature ovarian insufficiency
|
Yang, Xi
|
|
|
|
11-12 |
p. 1227-1236
|
artikel
|
| 45 |
RNA sequencing-based transcriptomic profiles of embryonic lens development for cataract gene discovery
|
Anand, Deepti
|
|
2018
|
|
11-12 |
p. 941-954
|
artikel
|
| 46 |
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy
|
Vill, Katharina
|
|
2018
|
|
11-12 |
p. 911-919
|
artikel
|
| 47 |
Scrutinizing the FTO locus: compelling evidence for a complex, long-range regulatory context
|
Rask-Andersen, Mathias
|
|
2015
|
|
11-12 |
p. 1183-1193
|
artikel
|
| 48 |
The genetic landscape of the human solute carrier (SLC) transporter superfamily
|
Schaller, Lena
|
|
|
|
11-12 |
p. 1359-1377
|
artikel
|
| 49 |
The impact of GJA8 SNPs on susceptibility to age-related cataract
|
Yu, Xiaoning
|
|
2018
|
|
11-12 |
p. 897-904
|
artikel
|
| 50 |
The RNA world of human ageing
|
Gomez-Verjan, J. C.
|
|
2018
|
|
11-12 |
p. 865-879
|
artikel
|
| 51 |
Trust in genomic data sharing among members of the general public in the UK, USA, Canada and Australia
|
Milne, Richard
|
|
|
|
11-12 |
p. 1237-1246
|
artikel
|
| 52 |
World-wide distributions of lactase persistence alleles and the complex effects of recombination and selection
|
Liebert, Anke
|
|
2017
|
|
11-12 |
p. 1445-1453
|
artikel
|
| 53 |
ZP2 heterozygous mutation in an infertile woman
|
Barbaux, Sandrine
|
|
2017
|
|
11-12 |
p. 1489-1491
|
artikel
|
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