Paper Details

Paper Title

Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects.

Paper Journal Title

Am J Hum Genet

Paper Citation Count

Paper Publication Year

2014

Bio Mention

(NMD). The, 5' UTR, HIPPO, NMD, RefSeq NM_001130145, TSS, YAP1, Yap1, alternative TSS, alternative transcription start site, alternative transcripts, c, c. 1066G, c. 1066G>T, c.370C, c.370C>T, canonical transcript, codon Met179, coloboma, hearing loss, hematuria, human, intellectual disability, intron 1, isolated and syndromic, mouse, multisystem involvement, optic fissure closure defects, orofacial clefting

Mesh Descriptor

Author Name	Affiliation
Kathleen A Williamson	Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh
James S Floyd	Wellcome Trust Sanger Institute
James S Floyd	Wellcome Trust Sanger Institute
Morad Ansari	Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh
Alison Meynert	Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh
Carl A Anderson	Wellcome Trust Sanger Institute
Anthony T Moore	Moorfields Eye Hospital NHS Foundation Trust, UK University College London Institute of Ophthalmology
Matthew E Hurles	Wellcome Trust Sanger Institute
Matthew E Hurles	Wellcome Trust Sanger Institute
Martin S Taylor	Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh
Martin S Taylor	Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh
Andrew O M Wilkie	Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, University of Oxford
David R FitzPatrick	Medical Research Council Human Genetics Unit, Medical Research Council Institute of Genetics and Molecular Medicine, University of Edinburgh

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Dataset	Description	Source Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link
RefSeq	The Reference Sequence (RefSeq) project at the National Center for Biotechn	Link

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