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Author Details

Sawona Biswas
University of California San Francisco
2013
23
14
PMIDPaper TitleJournal TitlePublished Year
34211152Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).Genet Med2021
34570182Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.JAMA Pediatr2021
32102930A Centralized Approach for Practicing Genomic Medicine.Pediatrics2020
31944481Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.Hum Mutat2020
30670880Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.Genet Med2019
30287922Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.Genet Med2019
28960434Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.Am J Hematol2018
30133189Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.Mol Genet Genomic Med2018
29907799Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.Genet Med2018
29388940Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings.Genet Med2018
29497922Why Patients Decline Genomic Sequencing Studies: Experiences from the CSER Consortium.J Genet Couns2018
29739461Clinical providers' experiences with returning results from genomic sequencing: an interview study.BMC Med Genomics2018
29595809AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.Genet Med2018
28966657How do providers discuss the results of pediatric exome sequencing with families?Per Med2017
28220724An Observational Study of Children's Involvement in Informed Consent for Exome Sequencing Research.J Empir Res Hum Res Ethics2017
27181684Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.Am J Hum Genet2016
27392080Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.Am J Hum Genet2016
27392081Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.Am J Hum Genet2016
27181682Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.Am J Hum Genet2016
25934187Increased prevalence of two mitochondrial DNA polymorphisms in functional disease: Are we describing different parts of an energy-depleted elephant?Mitochondrion2015
26478737Illustrative case studies in the return of exome and genome sequencing results.Per Med2015
26187847Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.Hum Genomics2015
23895773Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion.Eur J Med Genet2013
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Collaborators

Children's Hospital of Philadelphia
Co-authored papers 10
Illumina Inc.
Co-authored papers 10
The Perelman School of Medicine at the University of Pennsylvania
Co-authored papers 10
Children's Hospital of Philadelphia, University of Pennsylvania
Co-authored papers 9
University of Washington Medical Center
Co-authored papers 9
Children's Hospital of Philadelphia
Co-authored papers 9
Thomas Jefferson University
Co-authored papers 8
Washington University School of Medicine
Co-authored papers 7
The Broad Institute of MIT and Harvard
Co-authored papers 7
University of North Carolina
Co-authored papers 7
Brigham and Women's Hospital, Broad Institute Ariadne Labs and Harvard Medical School
Co-authored papers 7
University of Washington Medical Center
Co-authored papers 7
National Human Genome Research Institute, National Institutes of Health
Co-authored papers 7
HudsonAlpha Institute for Biotechnology
Co-authored papers 6
Baylor College of Medicine
Co-authored papers 6
Center for Health Research, Kaiser Permanente Northwest
Co-authored papers 6
HudsonAlpha Institute for Biotechnology
Co-authored papers 6
Vagelos College of Physicians and Surgeons, Columbia University
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Oregon Health & Science University (OHSU)
Co-authored papers 5
Brigham and Women's Hospital, USA Harvard Medical School
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Texas Children's Cancer Center, Texas Children's Hospital
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National Human Genome Research Institute, National Institutes of Health
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Department of Medicine Brigham and Women's Hospital and Harvard Medical School
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University of Washington School of Medicine.
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Norton Children's Research Institute Affiliated with the University of Louisville
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Center for Precision Health Research, National Human Genome Research Institute
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