Institute of Human Genetics

412(top 1%)

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31.0K(top 1%)

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85(top 0.1%)

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167(top 0.1%)

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476

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32.8K

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3.4K

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Top Articles

#	Title	Journal	Year	Citations
1	Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1	Nature Genetics	1993	1,673
2	Trinucleotide Repeat Disorders	Annual Review of Neuroscience	2007	1,289
3	Myotonic Dystrophy Type 2 Caused by a CCTG Expansion in Intron 1 of ZNF9	Science	2001	1,172
4	Ataxin-1 Nuclear Localization and Aggregation	Cell	1998	965
5	Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14	Science	1992	904
6	International Myeloma Working Group molecular classification of multiple myeloma: spotlight review	Leukemia	2009	775
7	Cockayne syndrome: Review of 140 cases	American Journal of Medical Genetics Part A	1992	749
8	Identification of genes that modify ataxin-1-induced neurodegeneration	Nature	2000	648
9	Overexpression of cadherins and underexpression of ?-catenin inhibit dorsal mesoderm induction in early Xenopus embryos	Cell	1994	643
10	RNAi suppresses polyglutamine-induced neurodegeneration in a model of spinocerebellar ataxia	Nature Medicine	2004	643
11	An untranslated CTG expansion causes a novel form of spinocerebellar ataxia (SCA8)	Nature Genetics	1999	615
12	Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures	Nature	1997	531
13	Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I	Nature Genetics	1993	489
14	A human major histocompatibility complex class I gene that encodes a protein with a shortened cytoplasmic segment.	Proceedings of the National Academy of Sciences of the United States of America	1987	484
15	Mutation of the E6-AP Ubiquitin Ligase Reduces Nuclear Inclusion Frequency While Accelerating Polyglutamine-Induced Pathology in SCA1 Mice	Neuron	1999	482
16	Bidirectional expression of CUG and CAG expansion transcripts and intranuclear polyglutamine inclusions in spinocerebellar ataxia type 8	Nature Genetics	2006	408
17	Interaction of Akt-Phosphorylated Ataxin-1 with 14-3-3 Mediates Neurodegeneration in Spinocerebellar Ataxia Type 1	Cell	2003	402
18	Spectrin mutations cause spinocerebellar ataxia type 5	Nature Genetics	2006	346
19	Polyglutamine expansion down-regulates specific neuronal genes before pathologic changes in SCA1	Nature Neuroscience	2000	341
20	A Long CAG Repeat in the Mouse Sca1 Locus Replicates SCA1 Features and Reveals the Impact of Protein Solubility on Selective Neurodegeneration	Neuron	2002	320
21	Expression analysis of the ataxin–1 protein in tissues from normal and spinocerebellar ataxia type 1 individuals	Nature Genetics	1995	291
22	REGULATION OF THE EXPRESSION OF LIPOGENIC ENZYME GENES BY CARBOHYDRATE	Annual Review of Nutrition	1997	287
23	Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1	Nature	2008	287
24	Harnessing a High Cargo-Capacity Transposon for Genetic Applications in Vertebrates	PLoS Genetics	2006	283
25	Purkinje Cell Expression of a Mutant Allele ofSCA1in Transgenic Mice Leads to Disparate Effects on Motor Behaviors, Followed by a Progressive Cerebellar Dysfunction and Histological Alterations	Journal of Neuroscience	1997	261
26	Recovery from Polyglutamine-Induced Neurodegeneration in Conditional SCA1 Transgenic Mice	Journal of Neuroscience	2004	257
27	The cerebellar leucine-rich acidic nuclear protein interacts with ataxin-1	Nature	1997	246
28	Efficient gene delivery and gene expression in zebrafish using the Sleeping Beauty transposon	Developmental Biology	2003	220
29	INTRACELLULAR LIPID-BINDING PROTEINS AND THEIR GENES	Annual Review of Nutrition	1997	217
30	WNT5A mutations in patients with autosomal dominant Robinow syndrome	Developmental Dynamics	2010	214
31	RORα-Mediated Purkinje Cell Development Determines Disease Severity in Adult SCA1 Mice	Cell	2006	210
32	Coming Full Circle: A Reciprocal‐Engagement Model of Genetic Counseling Practice	Journal of Genetic Counseling	2007	209
33	Pathogenic Mechanisms of a Polyglutamine-mediated Neurodegenerative Disease, Spinocerebellar Ataxia Type 1	Journal of Biological Chemistry	2009	206
34	Mammalian germ-line transgenesis by transposition	Proceedings of the National Academy of Sciences of the United States of America	2002	203
35	Disrupted cerebellar cortical development and progressive degeneration of Purkinje cells in SV40 T antigen transgenic mice	Neuron	1992	201
36	Transposition and gene disruption in the male germline of the mouse	Genesis	2001	200
37	The generation of a conditional Fmr1 knock out mouse model to study Fmrp function in vivo	Neurobiology of Disease	2006	199
38	miR-19, miR-101 and miR-130 co-regulate ATXN1 levels to potentially modulate SCA1 pathogenesis	Nature Neuroscience	2008	194
39	Myotonic Dystrophy: RNA Pathogenesis Comes into Focus	American Journal of Human Genetics	2004	190
40	The AXH Domain of Ataxin-1 Mediates Neurodegeneration through Its Interaction with Gfi-1/Senseless Proteins	Cell	2005	189
41	A Transposon and Transposase System for Human Application	Molecular Therapy	2010	189
42	Gametic and somatic tissue–specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1	Nature Genetics	1995	179
43	Male Donor-derived Cells in the Brains of Female Sex-mismatched Bone Marrow Transplant Recipients	Journal of Neuropathology and Experimental Neurology	1993	171
44	RNA pathogenesis of the myotonic dystrophies	Neuromuscular Disorders	2005	166
45	The Spinocerebellar Ataxia 8 Noncoding RNA Causes Neurodegeneration and Associates with Staufen in Drosophila	Current Biology	2004	163
46	Beyond the Qs in the polyglutamine diseases	Genes and Development	2001	161
47	Gene-centric Meta-analysis in 87,736 Individuals of European Ancestry Identifies Multiple Blood-Pressure-Related Loci	American Journal of Human Genetics	2014	158
48	Insulin Receptor Splicing Alteration in Myotonic Dystrophy Type 2	American Journal of Human Genetics	2004	151
49	Lithium Therapy Improves Neurological Function and Hippocampal Dendritic Arborization in a Spinocerebellar Ataxia Type 1 Mouse Model	PLoS Medicine	2007	147
50	cDNA cloning and characterization of three genes uniquely expressed in cerebellum by Purkinje neurons	Journal of Neuroscience	1988	144

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