Publications by authors named "Barbara Crandall"

9Publications

Identification of novel PIEZO1 variants using prenatal exome sequencing and correlation to ultrasound and autopsy findings of recurrent hydrops fetalis.

Am J Med Genet A 2018 12 23;176(12):2829-2834. Epub 2018 Sep 23.

Department of Obstetrics and Gynecology, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, California.

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http://dx.doi.org/10.1002/ajmg.a.40533DOI Listing
December 2018

Structural Chromosomal Rearrangements Require Nucleotide-Level Resolution: Lessons from Next-Generation Sequencing in Prenatal Diagnosis.

Am J Hum Genet 2016 Nov 13;99(5):1015-1033. Epub 2016 Oct 13.

Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital, Boston, MA 02115, USA; Harvard Medical School, Boston, MA 02115, USA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA 02142, USA; Department of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA; Division of Evolution and Genomic Science, School of Biological Sciences, University of Manchester, Manchester Academic Health Science Center, Manchester 03101, UK. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2016.08.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5097935PMC
November 2016

Infant hearing loss and connexin testing in a diverse population.

Genet Med 2008 Jul;10(7):517-24

Department of Pediatrics, Institute of Human Genetics, University of Minnesota Medical School, Minneapolis, Minnesota 55455, USA.

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http://dx.doi.org/10.1097/gim.0b013e31817708faDOI Listing
July 2008

Genetic testing as part of the early hearing detection and intervention (EHDI) process.

Genet Med 2004 Nov-Dec;6(6):521-5

Department of Pediatrics and Institute of Human Genetics, University of Minnesota, USA.

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http://dx.doi.org/10.1097/01.gim.0000144187.21727.28DOI Listing
February 2005

Early diagnosis of ataxia-telangiectasia using radiosensitivity testing.

J Pediatr 2002 Jun;140(6):724-31

Department of Pathology, UCLA School of Medicine, Los Angeles, California 90095-1732, USA.

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http://dx.doi.org/10.1067/mpd.2002.123879DOI Listing
June 2002