Canlyniadau Chwilio - Gregory Costain
- Dangos 1 - 20 canlyniadau o 42
- Ewch i'r Dudalen Nesaf
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Genome sequencing as a diagnostic test gan Gregory Costain, Ronald D. Cohn, Stephen W. Scherer, Christian R. Marshall
Cyhoeddwyd 2021Artigo -
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Epilepsy surgery outcomes in patients with GATOR1 gene complex variants: Report of new cases and review of literature gan Ahmed N. Sahly, Robyn Whitney, Gregory Costain, Vann Chau, Hiroshi Otsubo, Ayako Ochi, Elizabeth Donner, Jessie Cunningham, Kevin Jones, Elysa Widjaja, George M. Ibrahim, Puneet Jain
Cyhoeddwyd 2023Revisão -
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Rare Copy Number Variations in Adults with Tetralogy of Fallot Implicate Novel Risk Gene Pathways gan Candice K. Silversides, Anath C. Lionel, Gregory Costain, Daniele Merico, Ohsuke Migita, Ben Liu, Tracy J. Yuen, Jessica Rickaby, Bhooma Thiruvahindrapuram, Christian R. Marshall, Stephen W. Scherer, Anne S. Bassett
Cyhoeddwyd 2012Artigo -
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Delineating the 15q13.3 microdeletion phenotype: a case series and comprehensive review of the literature gan Chelsea Lowther, Gregory Costain, Dimitri J. Stavropoulos, Rebecca Melvin, Candice K. Silversides, Danielle M. Andrade, Joyce So, Hanna Faghfoury, Anath C. Lionel, Christian R. Marshall, Stephen W. Scherer, Anne S. Bassett
Cyhoeddwyd 2014Revisão -
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Evidence review and considerations for use of first line genome sequencing to diagnose rare genetic disorders gan Kristen Wigby, Deanna Brockman, Gregory Costain, Caitlin L. Hale, Stacie L. Taylor, John W. Belmont, David Bick, David Dimmock, Susan Fernbach, John M. Greally, Vaidehi Jobanputra, Shashikant Kulkarni, Elizabeth Spiteri, Ryan J. Taft
Cyhoeddwyd 2024Artigo -
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Pathogenic rare copy number variants in community-based schizophrenia suggest a potential role for clinical microarrays gan Gregory Costain, A. C. Lionel, Daniele Merico, Patricia H. Forsythe, Kay Russell, Chelsea Lowther, Tracy J. Yuen, Janice Husted, Dimitrios J. Stavropoulos, Marsha Speevak, Eva W. C. Chow, C. R. Marshall, Stephen W. Scherer, A. S. Bassett
Cyhoeddwyd 2013Artigo -
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Leveraging cancer mutation data to inform the pathogenicity classification of germline missense variants gan Bushra Haque, David Cheerie, Amy Pan, Meredith Curtis, Thomas Nalpathamkalam, Jimmy Nguyen, Celine Salhab, Bhooma Thiruvahindrapuram, Jade Zhang, Madeline Couse, Taila Hartley, Michelle M. Morrow, Emily M. Price, Susan Walker, David Malkin, Frederick P. Roth, Gregory Costain
Cyhoeddwyd 2025Artigo -
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Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome gan Daniele Merico, Mehdi Zarrei, Gregory Costain, Lucas Ogura, Babak Alipanahi, Matthew J. Gazzellone, Nancy J. Butcher, Bhooma Thiruvahindrapuram, Thomas Nalpathamkalam, Eva W.C. Chow, Danielle M. Andrade, Brendan J. Frey, Christian R. Marshall, Stephen W. Scherer, Anne S. Bassett
Cyhoeddwyd 2015Artigo -
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Multicenter Consensus Approach to Evaluation of Neonatal Hypotonia in the Genomic Era: A Review gan Sarah U. Morton, John Christodoulou, Gregory Costain, Francesco Muntoni, Emma Wakeling, Monica H. Wojcik, Courtney E. French, Anna Szuto, James J. Dowling, Ronald D. Cohn, F. Lucy Raymond, Basil T. Darras, David A. Williams, Sebastian Lunke, Zornitza Stark, David H. Rowitch, Pankaj B. Agrawal
Cyhoeddwyd 2022Revisão -
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Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing gan Gregory Costain, Rebekah Jobling, Susan Walker, Miriam S. Reuter, Meaghan Snell, Sarah Bowdin, Ronald D. Cohn, Lucie Dupuis, Stacy Hewson, Saadet Mercimek‐Andrews, Cheryl Shuman, Neal Sondheimer, Rosanna Weksberg, Grace Yoon, M. Stephen Meyn, Dimitri J. Stavropoulos, Stephen W. Scherer, Roberto Mendoza‐Londono, Christian R. Marshall
Cyhoeddwyd 2018Artigo
Offerynnau Chwilio:
Pynciau Perthynol
Biology
Genetics
Gene
Medicine
Psychiatry
Genome
Schizophrenia (object-oriented programming)
Computational biology
Phenotype
Population
Psychology
Internal medicine
Mutation
Environmental health
Copy-number variation
Genotype
Single-nucleotide polymorphism
Bioinformatics
Genetic testing
Genome-wide association study
Pediatrics
Gene expression
Pathology
Autism
Disease
Epilepsy
Genetic counseling
Neurodevelopmental disorder
Whole genome sequencing
Autism spectrum disorder