Publications by authors named "Gill Bejerano"

64Publications

Morphogenesis is transcriptionally coupled to neurogenesis during peripheral olfactory organ development.

Development 2020 12 21;147(24). Epub 2020 Dec 21.

Centre de Biologie du Développement (CBD, UMR5547), Centre de Biologie Intégrative (CBI, FR 3743), Université de Toulouse, CNRS, UPS, 31062, France

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December 2020

A fully-automated method discovers loss of mouse-lethal and human-monogenic disease genes in 58 mammals.

Nucleic Acids Res 2020 09;48(16):e91

Department of Developmental Biology, Stanford University, Stanford, CA 94305, USA.

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September 2020

A functional enrichment test for molecular convergent evolution finds a clear protein-coding signal in echolocating bats and whales.

Proc Natl Acad Sci U S A 2019 10 30;116(42):21094-21103. Epub 2019 Sep 30.

Department of Developmental Biology, Stanford University, Stanford, CA 94305;

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October 2019

S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing.

Nat Genet 2019 04 25;51(4):755-763. Epub 2019 Feb 25.

Department of Computer Science, Stanford University, Stanford, CA, USA.

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April 2019

A sequence-based, deep learning model accurately predicts RNA splicing branchpoints.

RNA 2018 12 17;24(12):1647-1658. Epub 2018 Sep 17.

Department of Computer Science, Stanford University, Stanford, California 94305, USA.

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December 2018

An MTF1 binding site disrupted by a homozygous variant in the promoter of ATP7B likely causes Wilson Disease.

Eur J Hum Genet 2018 12 7;26(12):1810-1818. Epub 2018 Aug 7.

Department of Developmental Biology, Stanford University School of Medicine, Stanford, CA, USA.

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December 2018

Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization.

Genet Med 2019 02 12;21(2):464-470. Epub 2018 Jul 12.

Department of Computer Science, Stanford University, Stanford, California, 94305, USA.

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February 2019

A screen for deeply conserved non-coding GWAS SNPs uncovers a MIR-9-2 functional mutation associated to retinal vasculature defects in human.

Nucleic Acids Res 2018 04;46(7):3517-3531

Department of Psychiatry and Behavioral Sciences, Stanford Center for Sleep Sciences and Medicine, Stanford, CA 94305, USA.

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April 2018

Deriving genomic diagnoses without revealing patient genomes.

Science 2017 08;357(6352):692-695

Department of Computer Science, Stanford University, Stanford, CA 94305, USA.

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August 2017