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for Human Molecular Genetics. Most-cited rankings are recalculated at the beginning of the month and are based on citations to articles on this journal site from articles in other HighWire-hosted journals.

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Canadian > Most-Cited Full-Text Articles

1.) Nonsense-mediated mRNA decayin health and disease

2.) Human Y chromosome azoospermia factors (AZF) mapped to different subregions in Yq11

3.) Mutation of human short tandem repeats

4.) The DNA methyltransferases of mammals

5.) Somatic mutations of the APC gene in colorectal tumors: mutation cluster region in the APC gene

6.) The Rb/E2F pathway and cancer

7.) Isolation of a candidate human telomerase catalytic subunit gene, which reveals complex splicing patterns in different cell types

8.) Heterogeneity in telomere length of human chromosomes

9.) Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy

10.) Polyglutamine-expanded androgen receptors form aggregates that sequester heat shock proteins, proteasome components and SRC-1, and are suppressed by the HDJ-2 chaperone

11.) Embryonic lethality and vascular defects in mice lacking the Notch ligand Jagged1

12.) Decreased expression of striatal signaling genes in a mouse model of Huntington's disease

13.) Aberrant patterns of DNA methylation, chromatin formation and gene expression in cancer

14.) Dystroglycan is essential for early embryonic development: disruption of Reichert's membrane in Dag1-null mice

15.) Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC

16.) Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2)

17.) The complete sequence of the coding region of the ATM gene reveals similarity to cell cycle regulators in different species

18.) Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation

19.) The survival motor neuron protein in spinal muscular atrophy

20.) A radiation hybrid map of the human genome

21.) Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products

22.) A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells

23.) Fourteen and counting: unraveling trinucleotide repeat diseases

24.) Intranuclear inclusions and neuritic aggregates in transgenic mice expressing a mutant N-terminal fragment of huntingtin [published erratum appears in Hum Mol Genet 1999 May;8(5):943]

25.) Frataxin is reduced in Friedreich ataxia patients and is associated with mitochondrial membranes

26.) Prediction of deleterious human alleles

27.) Mutations in the {{gamma}}2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesis

28.) Association of an extended haplotype in the tau gene with progressive supranuclear palsy

29.) CREB-binding protein sequestration by expanded polyglutamine

30.) HIP-I: a huntingtin interacting protein isolated by the yeast two- hybrid system

31.) The ABC of APC

32.) The murine nephrin gene is specifically expressed in kidney, brain and pancreas: inactivation of the gene leads to massive proteinuria and neonatal death

33.) Disruption of two novel genes by a translocation co-segregating with schizophrenia

34.) Analysis of myocilin mutations in 1703 glaucoma patients from five different populations

35.) A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease

36.) The human centromeric survival motor neuron gene (SMN2) rescues embryonic lethality in Smn-/- mice and results in a mouse with spinal muscular atrophy

37.) Evidence that fragile X mental retardation protein is a negative regulator of translation

38.) Expansions of CAG repeat tracts are frequent in a yeast mutant defective in Okazaki fragment maturation

39.) Evidence for proteasome involvement in polyglutamine disease: localization to nuclear inclusions in SCA3/MJD and suppression of polyglutamine aggregation in vitro

40.) SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein

41.) Methylation profiling of CpG islands in human breast cancer cells

42.) Contrasting effects on HIF-1{{alpha}} regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease

43.) The CTLA-4 gene region of chromosome 2q33 is linked to, and associated with, type 1 diabetes. Belgian Diabetes Registry

44.) Evidence for a repressive function of the long polyglutamine tract in the human androgen receptor: possible pathogenetic relevance for the (CAG)n-expanded neuronopathies

45.) Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat

46.) Over-expression of inducible HSP70 chaperone suppresses neuropathology and improves motor function in SCA1 mice

47.) Deficient DNA mismatch repair: a common etiologic factor for colon cancer

48.) Neurological abnormalities in a knock-in mouse model of Huntington's disease

49.) A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2

50.) The beta3A subunit gene (Ap3b1) of the AP-3 adaptor complex is altered in the mouse hypopigmentation mutant pearl, a model for Hermansky- Pudlak syndrome and night blindness

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