Concepedia

Whole exome sequence analysis of Peters anomaly

Eric Weh, Linda M. Reis, Hannah C. Happ, Alex V. Levin, Patricia G. Wheeler, Karen L. David, Erin Carney, Brad Angle, Natalie Hauser, Elena V. Semina

Human Genetics · 2014 · 81 citations · 75 references

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75

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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Transcription factor AP-2 essential for cranial closure and craniofacial development

Hubert Schorle, Pascal Meier, Michael Büchert et al. · Nature · 1996 · 616 citations

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dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations

Xiaoming Liu, Xueqiu Jian, Eric Boerwinkle · Human Mutation · 2013 · 615 citations · Full text

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Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

Isabel M. Hanson, Judy Fletcher, Tim Jordan et al. · Nature Genetics · 1994 · 495 citations

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A novel homeobox gene PITX3 is mutated in families with autosomal-dominant cataracts and ASMD

Elena V. Semina, Robert E. Ferrell, Helen A. Mintz-Hittner et al. · Nature Genetics · 1998 · 393 citations

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