| nr |
titel |
auteur |
tijdschrift |
jaar |
jaarg. |
afl. |
pagina('s) |
type |
| 1 |
ABHD16A deficiency causes a complicated form of hereditary spastic paraplegia associated with intellectual disability and cerebral anomalies
|
Lemire, Gabrielle
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10 |
p. 2017-2023
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artikel
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| 2 |
A 584 bp deletion in CTRB2 inhibits chymotrypsin B2 activity and secretion and confers risk of pancreatic cancer
|
Jermusyk, Ashley
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10 |
p. 1852-1865
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artikel
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| 3 |
A cross-species approach using an in vivo evaluation platform in mice demonstrates that sequence variation in human RABEP2 modulates ischemic stroke outcomes
|
Lee, Han Kyu
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10 |
p. 1814-1827
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artikel
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| 4 |
An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome
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Choufani, Sanaa
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10 |
p. 1867-1884
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artikel
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| 5 |
An integrated approach to identify environmental modulators of genetic risk factors for complex traits
|
Balliu, Brunilda
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|
10 |
p. 1866-1879
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artikel
|
| 6 |
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
|
Thomas, Quentin
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10 |
p. 1909-1922
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artikel
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| 7 |
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss
|
Richard, Elodie M.
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10 |
p. 2006-2016
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artikel
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| 8 |
Classification of 101 BRCA1 and BRCA2 variants of uncertain significance by cosegregation study: A powerful approach
|
Caputo, Sandrine M.
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10 |
p. 1907-1923
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artikel
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| 9 |
Comparative single-cell analysis of biopsies clarifies pathogenic mechanisms in Klinefelter syndrome
|
Mahyari, Eisa
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10 |
p. 1924-1945
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artikel
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| 10 |
Current and new frontiers in hereditary cancer surveillance: Opportunities for liquid biopsy
|
Farncombe, Kirsten M.
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10 |
p. 1616-1627
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artikel
|
| 11 |
Demographic modeling of admixed Latin American populations from whole genomes
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Medina-Muñoz, Santiago G.
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10 |
p. 1804-1816
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artikel
|
| 12 |
De novo variants in FRMD5 are associated with developmental delay, intellectual disability, ataxia, and abnormalities of eye movement
|
Lu, Shenzhao
|
|
|
|
10 |
p. 1932-1943
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artikel
|
| 13 |
ExPRSweb: An online repository with polygenic risk scores for common health-related exposures
|
Ma, Ying
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10 |
p. 1742-1760
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artikel
|
| 14 |
Fast two-stage phasing of large-scale sequence data
|
Browning, Brian L.
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|
10 |
p. 1880-1890
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artikel
|
| 15 |
Frequencies of pharmacogenomic alleles across biogeographic groups in a large-scale biobank
|
Li, Binglan
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|
10 |
p. 1628-1647
|
artikel
|
| 16 |
GABBR1 monoallelic de novo variants linked to neurodevelopmental delay and epilepsy
|
Cediel, Maria Lucia
|
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|
10 |
p. 1885-1893
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artikel
|
| 17 |
Genetic determinants of blood-cell traits influence susceptibility to childhood acute lymphoblastic leukemia
|
Kachuri, Linda
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|
10 |
p. 1823-1835
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artikel
|
| 18 |
Genome-wide association study of esophageal squamous cell cancer identifies shared and distinct risk variants in African and Chinese populations
|
Chen, Wenlong Carl
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|
10 |
p. 1690-1703
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artikel
|
| 19 |
Heterozygous deletion of the autism-associated gene CHD8 impairs synaptic function through widespread changes in gene expression and chromatin compaction
|
Shi, Xi
|
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10 |
p. 1750-1768
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artikel
|
| 20 |
High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population
|
Mitani, Tadahiro
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10 |
p. 1981-2005
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artikel
|
| 21 |
High-throughput transcriptome analyses from ASPIRO, a phase 1/2/3 study of gene replacement therapy for X-linked myotubular myopathy
|
Andreoletti, Gaia
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10 |
p. 1648-1660
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artikel
|
| 22 |
Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network
|
Mukherjee, Souhrid
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|
10 |
p. 1946-1963
|
artikel
|
| 23 |
Improved pathogenicity prediction for rare human missense variants
|
Wu, Yingzhou
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|
10 |
p. 1891-1906
|
artikel
|
| 24 |
Integrating transcriptomics, metabolomics, and GWAS helps reveal molecular mechanisms for metabolite levels and disease risk
|
Yin, Xianyong
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10 |
p. 1727-1741
|
artikel
|
| 25 |
Integration of genetic fine-mapping and multi-omics data reveals candidate effector genes for hypertension
|
van Duijvenboden, Stefan
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10 |
p. 1718-1734
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artikel
|
| 26 |
KnockoffTrio: A knockoff framework for the identification of putative causal variants in genome-wide association studies with trio design
|
Yang, Yi
|
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|
10 |
p. 1761-1776
|
artikel
|
| 27 |
Literature-based predictions of Mendelian disease therapies
|
Deisseroth, Cole A.
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|
10 |
p. 1661-1672
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artikel
|
| 28 |
mtPGS: Leverage multiple correlated traits for accurate polygenic score construction
|
Xu, Chang
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|
10 |
p. 1673-1689
|
artikel
|
| 29 |
Mutations in SCNM1 cause orofaciodigital syndrome due to minor intron splicing defects affecting primary cilia
|
Iturrate, Asier
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10 |
p. 1828-1849
|
artikel
|
| 30 |
Pleiotropic modifiers of age-related diabetes and neonatal intestinal obstruction in cystic fibrosis
|
Aksit, Melis A.
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|
10 |
p. 1894-1908
|
artikel
|
| 31 |
PLS3 missense variants affecting the actin-binding domains cause X-linked congenital diaphragmatic hernia and body-wall defects
|
Petit, Florence
|
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10 |
p. 1787-1803
|
artikel
|
| 32 |
Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene
|
Qiao, Lu
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10 |
p. 1964-1980
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artikel
|
| 33 |
Rare variants in long non-coding RNAs are associated with blood lipid levels in the TOPMed whole-genome sequencing study
|
Wang, Yuxuan
|
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|
|
10 |
p. 1704-1717
|
artikel
|
| 34 |
Response to anti-IL17 therapy in inflammatory disease is not strongly impacted by genetic background
|
Zhang, Cong
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|
10 |
p. 1817-1824
|
artikel
|
| 35 |
Segregation analysis of 17,425 population-based breast cancer families: Evidence for genetic susceptibility and risk prediction
|
Li, Shuai
|
|
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|
10 |
p. 1777-1788
|
artikel
|
| 36 |
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
|
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|
10 |
p. 2024
|
artikel
|
| 37 |
Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation
|
van Loggerenberg, Warren
|
|
|
|
10 |
p. 1769-1786
|
artikel
|
| 38 |
The ancestry and geographical origins of St Helena’s liberated Africans
|
Sandoval-Velasco, Marcela
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|
|
10 |
p. 1825
|
artikel
|
| 39 |
The COPD GWAS gene ADGRG6 instructs function and injury response in human iPSC-derived type II alveolar epithelial cells
|
Werder, Rhiannon B.
|
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|
10 |
p. 1735-1749
|
artikel
|
| 40 |
The National Academies’ Roundtable on Genomics and Precision Health: Where we have been and where we are heading
|
Ginsburg, Geoffrey S.
|
|
|
|
10 |
p. 1817-1822
|
artikel
|
| 41 |
The need for an intersectionality framework in precision medicine research
|
Sabatello, Maya
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|
10 |
p. 1609-1615
|
artikel
|
| 42 |
The piRNA-pathway factor FKBP6 is essential for spermatogenesis but dispensable for control of meiotic LINE-1 expression in humans
|
Wyrwoll, Margot J.
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|
10 |
p. 1850-1866
|
artikel
|
| 43 |
The recurrent de novo c.2011C>T missense variant in MTSS2 causes syndromic intellectual disability
|
Huang, Yan
|
|
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|
10 |
p. 1923-1931
|
artikel
|
| 44 |
The risks of using unapproved gene symbols
|
Braschi, Bryony
|
|
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|
10 |
p. 1813-1816
|
artikel
|
| 45 |
This month in The Journal
|
Ratzel, Sarah
|
|
|
|
10 |
p. 1811-1812
|
artikel
|
| 46 |
This month in The Journal
|
Spencer, Kylee L.
|
|
|
|
10 |
p. 1607-1608
|
artikel
|
| 47 |
This month in The Journal
|
Spencer, Kylee L.
|
|
|
|
10 |
p. 1725-1726
|
artikel
|
| 48 |
Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models
|
Tai, Derek J.C.
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|
|
|
10 |
p. 1789-1813
|
artikel
|
| 49 |
Whole-genome sequencing in diverse subjects identifies genetic correlates of leukocyte traits: The NHLBI TOPMed program
|
Mikhaylova, Anna V.
|
|
|
|
10 |
p. 1836-1851
|
artikel
|
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