Title	Publication Date	Language	Citations
Evidence that fragile X mental retardation protein is a negative regulator of translation	2001/02/01		396
Prelingual Deafness: High Prevalence of a 30delG Mutation in the Connexin 26 Gene	1997/11/01	English	395
Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)	2000/05/22		391
Practical aspects of imputation-driven meta-analysis of genome-wide association studies	2008/10/15	English	391
Common genetic variants of the FADS1 FADS2 gene cluster and their reconstructed haplotypes are associated with the fatty acid composition in phospholipids	2006/05/02	English	389
A hypervariable segment in the human dopamine receptor D4 (DRD4) gene	1993/01/01	English	387
Neurological abnormalities in a knock-in mouse model of Huntington's disease	2001/01/01		386
Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3	2011/05/10	English	381
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein	2001/07/01		380
Single nucleotide polymorphism associated with mature miR-125a alters the processing of pri-miRNA	2007/03/30	English	379
Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration	2006/09/01	English	376
Age-associated alteration of gene expression patterns in mouse oocytes	2004/08/18	English	373
Insight into Rett syndrome: MeCP2 levels display tissue- and cell-specific differences and correlate with neuronal maturation	2002/01/01		372
An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers	2006/07/06	English	372
Susceptibility to coronary artery disease and diabetes is encoded by distinct, tightly linked SNPs in the ANRIL locus on chromosome 9p	2007/11/29	English	372
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease	2005/06/16	English	370
FSHD associated DNA rearrangements are due to deletions of integral copies of a 3.2 kb tandemly repeated unit	1993/01/01	English	370
Emerging functions of mammalian mitochondrial fusion and fission	2005/10/15	English	369
Failure of MBNL1-dependent post-natal splicing transitions in myotonic dystrophy	2006/05/22	English	369
Mutant FUS proteins that cause amyotrophic lateral sclerosis incorporate into stress granules	2010/08/10	English	368
VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis	2011/11/30	English	368
Tissue microarray technology for high-throughput molecular profiling of cancer	2001/04/01		367
A block of autophagy in lysosomal storage disorders	2007/10/03	English	366
Myotonic dystrophy type 1 is associated with nuclear foci of mutant RNA, sequestration of muscleblind proteins and deregulated alternative splicing in neurons	2004/10/20	English	366
Dystroglycan Is Essential for Early Embryonic Development: Disruption of Reichert's Membrane in Dag1-Null Mice	1997/06/01	English	365
α-synuclein acts in the nucleus to inhibit histone acetylation and promote neurotoxicity	2006/09/07	English	363
Genome-wide association study identifies HLA-A*3101 allele as a genetic risk factor for carbamazepine-induced cutaneous adverse drug reactions in Japanese population	2010/12/10	English	361
Interaction between hamartin and tuberin, the TSC1 and TSC2 gene products	1998/06/01		361
Nesprin-1 and -2 are involved in the pathogenesis of Emery–Dreifuss muscular dystrophy and are critical for nuclear envelope integrity	2007/08/29	English	358
Mutant huntingtin directly increases susceptibility of mitochondria to the calcium-induced permeability transition and cytochrome c release	2004/05/05	English	358