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Author Details

Seema M Jamal
Division of Clinical and Metabolic Genetics (R.K., The Hospital for Sick Children
2010
15
13
PMIDPaper TitleJournal TitlePublished Year
29976988Developing a conceptual, reproducible, rubric-based approach to consent and result disclosure for genetic testing by clinicians with minimal genetics background.Genet Med2019
29959160Reappraisal of Reported Genes for Sudden Arrhythmic Death: Evidence-Based Evaluation of Gene Validity for Brugada Syndrome.Circulation2018
30133189Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.Mol Genet Genomic Med2018
27632689My46: a Web-based tool for self-guided management of genomic test results in research and clinical settings.Genet Med2017
26656649Gene discovery for Mendelian conditions via social networking: de novo variants in KDM1A cause developmental delay and distinctive facial features.Genet Med2016
25637381Actionable exomic incidental findings in 6503 participants: challenges of variant classification.Genome Res2015
24845082Attitudes of non-African American focus group participants toward return of results from exome and whole genome sequencing.Am J Med Genet A2014
24975944Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing.Am J Hum Genet2014
25087612Pathogenic variants for Mendelian and complex traits in exomes of 6,517 European and African Americans: implications for the return of incidental results.Am J Hum Genet2014
23619276Self-guided management of exome and whole-genome sequencing results: changing the results return model.Genet Med2013
23610051Attitudes of African Americans toward return of results from exome and whole genome sequencing.Am J Med Genet A2013
23610049Practices and policies of clinical exome sequencing providers: analysis and implications.Am J Med Genet A2013
23071215Genotype prediction of adult type 2 diabetes from adolescence in a multiracial population.Pediatrics2012
21671393Partial trisomy 8 mosaicism due to a pseudoisodicentric chromosome 8.Am J Med Genet A2011
20830798Novel de novo PCDH19 mutations in three unrelated females with epilepsy female restricted mental retardation syndrome.Am J Med Genet A2010
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Collaborators

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Michael J Bamshad
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Joon-Ho Yu
University of Washington School of Medicine
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Stephen S Rich
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Wylie Burke
The Heart Institute, Cincinnati Children's Hospital Medical Center
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Kevin M Bowling
Washington University School of Medicine
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Tanya M Harrell
University of Washington.
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James S Ware
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Nicholas R Anderson
University of California davis
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Nicholas J Schork
University of California San Diego
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Sawona Biswas
University of California San Francisco
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Katie Bergstrom
Baylor College of Medicine, Texas Children's Hospital
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Joseph S Salama
Institute for Health Metrics and Evaluation, University of Washington
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Colin C Pritchard
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