Concepedia

Mutations in LAMA1 Cause Cerebellar Dysplasia and Cysts with and without Retinal Dystrophy

Kimberly A. Aldinger, Stephen J. Mosca, Martine Tétreault, Jennifer C. Dempsey, Gisele E. Ishak, Taila Hartley, Ian G. Phelps, Ryan E. Lamont, Diana R. O’Day, Donald Basel,

The American Journal of Human Genetics · 2014 · 118 citations · 25 references

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25

Human Splicing Finder: an online bioinformatics tool to predict splicing signals

François-Olivier Desmet, Dalil Hamroun, Marine Lalande et al. · Nucleic Acids Research · 2009 · 2.5K citations · Full text

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The Database of Genomic Variants: a curated collection of structural variation in the human genome

Jeffrey R. MacDonald, Robert Ziman, Ryan K. C. Yuen et al. · Nucleic Acids Research · 2013 · 1.4K citations · Full text

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Deep sequencing reveals 50 novel genes for recessive cognitive disorders

Hossein Najmabadi, Hao Hu, Masoud Garshasbi et al. · Nature · 2011 · 987 citations

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HomozygosityMapper--an interactive approach to homozygosity mapping

Dominik Seelow, Markus Schuelke, Friedhelm Hildebrandt et al. · Nucleic Acids Research · 2009 · 375 citations · Full text

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"Joubert Syndrome" Revisited: Key Ocular Motor Signs With Magnetic Resonance Imaging Correlation

Bernard L. Maria, Karin B.N. Hoang, Ronald J. Tusa et al. · Journal of Child Neurology · 1997 · 334 citations

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