Sawona Biswas

Sawona Biswas

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Sawona Biswas

Sawona Biswas

Publications by authors named "Sawona Biswas"

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AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.

Genet Med 2018 12 29;20(12):1600-1608. Epub 2018 Mar 29.

Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.

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http://dx.doi.org/10.1038/gim.2018.48DOI Listing
December 2018

Clinical providers' experiences with returning results from genomic sequencing: an interview study.

BMC Med Genomics 2018 05 8;11(1):45. Epub 2018 May 8.

Department of Pediatrics, Baylor College of Medicine, 1102 Bates St. FC 1200, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1186/s12920-018-0360-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5941324PMC
May 2018

How do providers discuss the results of pediatric exome sequencing with families?

Per Med 2017 Sep 4;14(5):409-422. Epub 2017 Sep 4.

Translational Medicine & Human Genetics, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.2217/pme-2017-0015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5616214PMC
September 2017

An Observational Study of Children's Involvement in Informed Consent for Exome Sequencing Research.

J Empir Res Hum Res Ethics 2017 02 20;12(1):6-13. Epub 2016 Oct 20.

2 Perelman School of Medicine, University of Pennsylvania, Philadelphia, USA.

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http://dx.doi.org/10.1177/1556264616674096DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5325125PMC
February 2017

Increased prevalence of two mitochondrial DNA polymorphisms in functional disease: Are we describing different parts of an energy-depleted elephant?

Mitochondrion 2015 Jul 29;23:1-6. Epub 2015 Apr 29.

Department of Clinical Neuroscience, Division of Psychiatry, Karolinska Institutet, Stockholm Sweden.

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http://dx.doi.org/10.1016/j.mito.2015.04.005DOI Listing
July 2015

Multigeneration family with short stature, developmental delay, and dysmorphic features due to 4q27-q28.1 microdeletion.

Eur J Med Genet 2013 Sep 26;56(9):521-5. Epub 2013 Jul 26.

Department of Pediatrics, The Ohio State University College of Medicine, Nationwide Children's Hospital, 700 Children's Drive, Columbus, OH 43205, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2013.07.004DOI Listing
September 2013