| # | Title | Journal | Year | Citations |
|---|
| 1 | Mendelian randomization: genetic anchors for causal inference in epidemiological studies | Human Molecular Genetics | 2014 | 2,402 |
| 2 | Non-coding RNA | Human Molecular Genetics | 2006 | 2,052 |
| 3 | The DNA methyltransferases of mammals | Human Molecular Genetics | 2000 | 1,710 |
| 4 | Meta-analysis of genome-wide association studies for height and body mass index in ∼700000 individuals of European ancestry | Human Molecular Genetics | 2018 | 1,541 |
| 5 | Mutation of human short tandem repeats | Human Molecular Genetics | 1993 | 1,426 |
| 6 | Molecular components of the mammalian circadian clock | Human Molecular Genetics | 2006 | 1,384 |
| 7 | Mutant presenilins specifically elevate the levels of the 42 residue β-amyloid peptide in vivo: evidence for augmentation of a 42-specific γ secretase | Human Molecular Genetics | 2004 | 1,350 |
| 8 | Mitochondrial dynamics-fusion, fission, movement, and mitophagy-in neurodegenerative diseases | Human Molecular Genetics | 2009 | 1,235 |
| 9 | Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC | Human Molecular Genetics | 1993 | 1,223 |
| 10 | Epigenetic reprogramming in mammals | Human Molecular Genetics | 2005 | 1,140 |
| 11 | Disruption of two novel genes by a translocation co-segregating with schizophrenia | Human Molecular Genetics | 2000 | 1,135 |
| 12 | Genetic basis for individual variations in pain perception and the development of a chronic pain condition | Human Molecular Genetics | 2005 | 1,134 |
| 13 | Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11 | Human Molecular Genetics | 1996 | 1,087 |
| 14 | DNA methylation differences after exposure to prenatal famine are common and timing- and sex-specific | Human Molecular Genetics | 2009 | 1,042 |
| 15 | Increased bone density in sclerosteosis is due to the deficiency of a novel secreted protein (SOST) | Human Molecular Genetics | 2001 | 1,009 |
| 16 | A long-range Shh enhancer regulates expression in the developing limb and fin and is associated with preaxial polydactyly | Human Molecular Genetics | 2003 | 1,002 |
| 17 | Mitochondria are a direct site of Aβ accumulation in Alzheimer's disease neurons: implications for free radical generation and oxidative damage in disease progression | Human Molecular Genetics | 2006 | 996 |
| 18 | Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy | Human Molecular Genetics | 2002 | 971 |
| 19 | Prediction of deleterious human alleles | Human Molecular Genetics | 2001 | 955 |
| 20 | Nonsense-mediated mRNA decayin health and disease | Human Molecular Genetics | 1999 | 893 |
| 21 | Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies | Human Molecular Genetics | 2015 | 892 |
| 22 | Epistasis: what it means, what it doesn't mean, and statistical methods to detect it in humans | Human Molecular Genetics | 2002 | 890 |
| 23 | Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene | Human Molecular Genetics | 1992 | 878 |
| 24 | Broad activation of the ubiquitin–proteasome system by Parkin is critical for mitophagy | Human Molecular Genetics | 2011 | 851 |
| 25 | TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration | Human Molecular Genetics | 2010 | 840 |
| 26 | Parkinson's disease: from monogenic forms to genetic susceptibility factors | Human Molecular Genetics | 2009 | 816 |
| 27 | Single base polymorphism in the human Tumour Necrosis Factor alpha (TNFα) gene detectable by Ncol restriction of PCR product | Human Molecular Genetics | 1992 | 807 |
| 28 | A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2 | Human Molecular Genetics | 1999 | 806 |
| 29 | Evaluating the potential role of pleiotropy in Mendelian randomization studies | Human Molecular Genetics | 2018 | 804 |
| 30 | Aberrant patterns of DNA methylation, chromatin formation and gene expression in cancer | Human Molecular Genetics | 2001 | 801 |
| 31 | Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor | Human Molecular Genetics | 2003 | 800 |
| 32 | Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy | Human Molecular Genetics | 2010 | 795 |
| 33 | The Rb/E2F pathway and cancer | Human Molecular Genetics | 2001 | 786 |
| 34 | Cholinergic nicotinic receptor genes implicated in a nicotine dependence association study targeting 348 candidate genes with 3713 SNPs | Human Molecular Genetics | 2007 | 784 |
| 35 | Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat | Human Molecular Genetics | 2000 | 776 |
| 36 | Exosomes and microvesicles: extracellular vesicles for genetic information transfer and gene therapy | Human Molecular Genetics | 2012 | 775 |
| 37 | Accumulation of Krebs cycle intermediates and over-expression of HIF1α in tumours which result from germline FH and SDH mutations | Human Molecular Genetics | 2005 | 769 |
| 38 | Heterogeneity in telomere length of human chromosomes | Human Molecular Genetics | 1996 | 764 |
| 39 | A window into third-generation sequencing | Human Molecular Genetics | 2010 | 761 |
| 40 | The ABC of APC | Human Molecular Genetics | 2001 | 759 |
| 41 | Characterization of the CLEAR network reveals an integrated control of cellular clearance pathways | Human Molecular Genetics | 2011 | 759 |
| 42 | Meta-analysis of genome-wide association studies for body fat distribution in 694 649 individuals of European ancestry | Human Molecular Genetics | 2019 | 752 |
| 43 | Association of an Extended Haplotype in the Tau Gene with Progressive Supranuclear Palsy | Human Molecular Genetics | 1999 | 749 |
| 44 | Long-term persistence of plasmid DNA and foreign gone expression in mouse muscle | Human Molecular Genetics | 1992 | 748 |
| 45 | Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk | Human Molecular Genetics | 2005 | 741 |
| 46 | Mitochondrial transcription factor A regulates mtDNA copy number in mammals | Human Molecular Genetics | 2004 | 730 |
| 47 | Frataxin is Reduced in Friedreich Ataxia Patients and is Associated with Mitochondrial Membranes | Human Molecular Genetics | 1997 | 724 |
| 48 | Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease | Human Molecular Genetics | 2003 | 713 |
| 49 | Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2) | Human Molecular Genetics | 2001 | 709 |
| 50 | Embryonic Lethality and Vascular Defects in Mice Lacking the Notch Ligand Jagged1 | Human Molecular Genetics | 1999 | 705 |
