Title	Publication Date	Language	Citations
Mendelian randomization: genetic anchors for causal inference in epidemiological studies	2014/07/04	English	1,862
Non-coding RNA	2006/04/15	English	1,571
The DNA methyltransferases of mammals	2000/10/01		1,265
Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry	2018/08/16	English	1,147
Mutant presenilins specifically elevate the levels of the 42 residue β-amyloid peptide in vivo: evidence for augmentation of a 42-specific γ secretase	2003/11/25	English	1,105
Molecular components of the mammalian circadian clock	2006/10/15	English	1,033
Mitochondrial dynamics-fusion, fission, movement, and mitophagy-in neurodegenerative diseases	2009/10/06	English	996
Mutation of human short tandem repeats	1993/01/01	English	912
Disruption of two novel genes by a translocation co-segregating with schizophrenia	2000/05/22		881
Genetic basis for individual variations in pain perception and the development of a chronic pain condition	2004/11/10	English	855
A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly	2003/07/15	English	799
Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST)	2001/03/01		796
Epigenetic reprogramming in mammals	2005/04/15	English	794
Mitochondria are a direct site of Aβ accumulation in Alzheimer's disease neurons: implications for free radical generation and oxidative damage in disease progression	2006/03/21	English	773
Prediction of deleterious human alleles	2001/03/01		761
Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy	2002/05/01		757
Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC	1993/01/01	English	738
DNA methylation differences after exposure to prenatal famine are common and timing- and sex-specific	2009/08/04	English	724
Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies	2014/12/30	English	720
Broad activation of the ubiquitin–proteasome system by Parkin is critical for mitophagy	2011/02/04	English	719
Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11	1996/07/01		713
Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor	2003/02/01		688
TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration	2010/04/15	English	688
Nonsense-mediated mRNA decayin health and disease	1999/09/01		674
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2	1999/07/01		665
Exosomes and microvesicles: extracellular vesicles for genetic information transfer and gene therapy	2012/08/07	English	655
Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways	2011/07/13	English	652
Epistasis: what it means, what it doesn't mean, and statistical methods to detect it in humans	2002/10/01		652
Evaluating the potential role of pleiotropy in Mendelian randomization studies	2018/05/16	English	644
Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy	2010/09/24	English	634