| Meta-analysis of genome-wide association studies for height and body mass index in similar to 700 000 individuals of European ancestry |
179 |
| Evaluating the potential role of pleiotropy in Mendelian randomization studies |
82 |
| Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry |
53 |
| LRRK2 phosphorylates membrane-bound Rabs and is activated by GTP-bound Rab7L1 to promote recruitment to the trans-Golgi network |
42 |
| Towards clinical utility of polygenic risk scores |
38 |
| Long reads: their purpose and place |
32 |
| Fragile X mental retardation protein modulates the stability of its m(6)A-marked messenger RNA targets |
29 |
| Cellular alpha-synuclein pathology is associated with bioenergetic dysfunction in Parkinson's iPSC-derived dopamine neurons |
26 |
| NAFLD risk alleles in PNPLA TM6SF GCKR and LYPLAL1 show divergent metabolic effects |
25 |
| Mutant APP and amyloid beta-induced defective autophagy, mitophagy, mitochondrial structural and functional changes and synaptic damage in hippocampal neurons from Alzheimer's disease |
24 |
| Genome-wide association study of offspring birth weight in 86 577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics |
23 |
| LRRK2 impairs PINK1/Parkin-dependent mitophagy via its kinase activity: pathologic insights into Parkinson's disease |
22 |
| Nuclear localization and phosphorylation modulate pathological effects of alpha-synuclein |
21 |
| Mitochondrial division inhibitor 1 reduces dynamin-related protein 1 and mitochondrial fission activity |
21 |
| Genome-wide association study identifies seven novel susceptibility loci for primary open-angle glaucoma |
20 |
| Cas9/sgRNA selective targeting of the P23H Rhodopsin mutant allele for treating retinitis pigmentosa by intravitreal AAV9.PHP.B-based delivery |
20 |
| LRRK2 interacts with the vacuolar-type H+-ATPase pump a1 subunit to regulate lysosomal function |
18 |
| Drug screening for human genetic diseases using iPSC models |
18 |
| Vitamin D and overall cancer risk and cancer mortality: a Mendelian randomization study |
18 |
| Causal effects of blood lipids on amyotrophic lateral sclerosis: a Mendelian randomization study |
18 |
| MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics |
17 |
| Hippocampal phosphorylated tau induced cognitive decline, dendritic spine loss and mitochondrial abnormalities in a mouse model of Alzheimer's disease |
17 |
| Hippocampal mutant APP and amyloid beta-induced cognitive decline, dendritic spine loss, defective autophagy, mitophagy and mitochondrial abnormalities in a mouse model of Alzheimer's disease |
17 |
| Use and application of 3D-organoid technology |
17 |
| Advances and challenges for hemophilia gene therapy |
16 |
| Has retinal gene therapy come of age? From bench to bedside and back to bench |
16 |
| Next-generation AAV vectors-do not judge a virus (only) by its cover |
16 |
| MRI-informed muscle biopsies correlate MRI with pathology and DUX4 target gene expression in FSHD |
16 |
| Combined microRNA and mRNA expression analysis in pediatric multiple sclerosis: an integrated approach to uncover novel pathogenic mechanisms of the disease |
15 |
| Changes in extracellular matrix cause RPE cells to make basal deposits and activate the alternative complement pathway |
15 |
| Genome-wide association analyses identify new loci influencing intraocular pressure |
15 |
| Genome-wide association analyses identify 139 loci associated with macular thickness in the UK Biobank cohort |
15 |
| Advances in gene therapy for cystic fibrosis lung disease |
15 |
| Homozygous missense mutation L673P in adenylate kinase 7 (AK7) leads to primary male infertility and multiple morphological anomalies of the flagella but not to primary ciliary dyskinesia |
15 |
| AAV-based gene therapies for the muscular dystrophies |
14 |
| Traumatic injury induces stress granule formation and enhances motor dysfunctions in ALS/FTD models |
14 |
| Exon-skipping advances for Duchenne muscular dystrophy |
14 |
| Specific inhibition of myostatin activation is beneficial in mouse models of SMA therapy |
14 |
| Acid ceramidase inhibition ameliorates alpha-synuclein accumulation upon loss of GBA1 function |
14 |
| FAN1 modifies Huntington's disease progression by stabilizing the expanded HTT CAG repeat |
14 |
| In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions |
14 |
| BEST1 protein stability and degradation pathways differ between autosomal dominant Best disease and autosomal recessive bestrophinopathy accounting for the distinct retinal phenotypes |
14 |
| Microglia activation in Niemann-Pick disease, type C1 is amendable to therapeutic intervention |
14 |
| Mutant huntingtin reduction in astrocytes slows disease progression in the BACHD conditional Huntington's disease mouse model |
14 |
| Deep learning of genomic variation and regulatory network data |
13 |
| TBX6 compound inheritance leads to congenital vertebral malformations in humans and mice |
13 |
| Physician preparedness for big genomic data: a review of genomic medicine education initiatives in the United States |
13 |
| MIR137 schizophrenia-associated locus controls synaptic function by regulating synaptogenesis, synapse maturation and synaptic transmission |
13 |
| The pathogenesis of lysosomal storage disorders: beyond the engorgement of lysosomes to abnormal development and neuroinflammation |
13 |
| Familial paroxysmal kinesigenic dyskinesia is associated with mutations in the KCNA1 gene |
12 |
