Concepedia

CHARGE syndrome: a recurrent hotspot of mutations in CHD7 IVS25 analyzed by bioinformatic tools and minigene assays

Marine Legendre, Montserrat Rodriguez - Ballesteros, Massimiliano Rossi, Véronique Abadie, Jeanne Amiel, Nicole Revençu, Patricia Blanchet, Frédéric Brioude, Marie‐Ange Delrue, Yassamine Doubaj,

European Journal of Human Genetics · 2017 · 12 citations · 11 references

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11

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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Maximum Entropy Modeling of Short Sequence Motifs with Applications to RNA Splicing Signals

G Yeo, Christopher B. Burge · Journal of Computational Biology · 2004 · 2.1K citations · Full text

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Updated diagnostic criteria for CHARGE syndrome: A proposal

Alain Verloès · American Journal of Medical Genetics Part A · 2005 · 377 citations · Full text

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Human branch point consensus sequence is yUnAy

Kaiping Gao, Akio Masuda, Tohru Matsuura et al. · Nucleic Acids Research · 2008 · 282 citations · Full text

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Genome-wide discovery of human splicing branchpoints

Tim R. Mercer, Michael B. Clark, Stacey B. Andersen et al. · Genome Research · 2015 · 270 citations · Full text

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