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Author Details

Emily G Spencer
Scripps Research Translational Institute
2009
22
14
Trey Ideker (CM4AI)
PMIDPaper TitleJournal TitlePublished Year
35277577Impact of polygenic risk communication: an observational mobile application-based coronary artery disease study.NPJ Digit Med2022
30274978Direct to Consumer Fitness DNA Testing.Clin Chem2019
31847883Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases.Genome Med2019
29534064Validation of a genetic risk score for atrial fibrillation: A prospective multicenter cohort study.PLoS Med2018
30042899Combined accelerometer and genetic analysis to differentiate essential tremor from Parkinson's disease.PeerJ2018
30289737Returning Results to Family Members: Professional Duties in Genomics Research in the United States.J Leg Med2018
30452684Mutations of the mitochondrial carrier translocase channel subunit TIM22 cause early-onset mitochondrial myopathy.Hum Mol Genet2018
29791457A feasibility study of colorectal cancer diagnosis via circulating tumor DNA derived CNV detection.PLoS One2018
28054963Liquid Biopsies for Cancer: Coming to a Patient near You.J Clin Med2017
28383544Mutation of WIF1: a potential novel cause of a Nail-Patella-like disorder.Genet Med2017
27428751Characterization of Greater Middle Eastern genetic variation for enhanced disease gene discovery.Nat Genet2016
27727376Molecular Autopsy for Sudden Unexpected Death.JAMA2016
25692795Novel STAMBP mutation and additional findings in an Arabic family.Am J Med Genet A2015
29654772Mutations in KATNB1 Cause Complex Cerebral Malformations by Disrupting Asymmetrically Dividing Neural Progenitors.Neuron2015
24482476Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.Science2014
25521378Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.Neuron2014
24360807Mutations in CSPP1 lead to classical Joubert syndrome.Am J Hum Genet2014
23453666Whole-exome sequencing identifies mutated c12orf57 in recessive corpus callosum hypoplasia.Am J Hum Genet2013
23911318AMPD2 regulates GTP synthesis and is mutated in a potentially treatable neurodegenerative brainstem disorder.Cell2013
23386033Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders.Eur J Hum Genet2013
21548021Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.Am J Med Genet A2011
19920235Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.JAMA2009
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Collaborators

Joseph G Gleeson
University of California
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Scripps Science Institute
Co-authored papers 9
Maha S Zaki
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Co-authored papers 7
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University of California
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Yale School of Medicine
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The Barcelona Institute of Science and Technology
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Sarah E Topol
The Scripps Research Translational Institute, The Scripps Research Institute
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Neil C Chi
University of California San Diego
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Majdi Kara
University of Tripoli, Tripoli Children's Hospital
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Nenad Sestan
Yale School of Medicine
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Shrikant Mane
Yale School of Medicine
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Glenn Oliveira
Faculdade de Medicina
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Basak Rosti
Howard Hughes Medical Institute, The Rockefeller University
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Nathan E Wineinger
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William B Dobyns
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Release 1.2