Publications by authors named "Emily Place"

34Publications

An FDA/CDER perspective on nonclinical testing strategies: Classical toxicology approaches and new approach methodologies (NAMs).

Regul Toxicol Pharmacol 2020 Jul 20;114:104662. Epub 2020 Apr 20.

Center for Drug Evaluation and Research, US Food and Drug Administration, 10903 New Hampshire Ave., Silver Spring, MD, 20903, United States. Electronic address:

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http://dx.doi.org/10.1016/j.yrtph.2020.104662DOI Listing
July 2020

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations.

Genet Med 2020 Jun 10;22(6):1079-1087. Epub 2020 Feb 10.

Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, MA, USA.

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http://dx.doi.org/10.1038/s41436-020-0759-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7272325PMC
June 2020

Expanding the phenotypic spectrum in RDH12-associated retinal disease.

Cold Spring Harb Mol Case Stud 2020 02 3;6(1). Epub 2020 Feb 3.

Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts 02114, USA.

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http://dx.doi.org/10.1101/mcs.a004754DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6996522PMC
February 2020

Predictive value of genetic testing for inherited retinal diseases in patients with suspected atypical autoimmune retinopathy.

Am J Ophthalmol Case Rep 2019 Sep 10;15:100461. Epub 2019 May 10.

Department of Ophthalmology, Harvard Medical School, Massachusetts Eye and Ear Infirmary, 243 Charles Street, Boston, MA, USA.

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http://dx.doi.org/10.1016/j.ajoc.2019.100461DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6523031PMC
September 2019

Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.

Hum Mutat 2019 08 22;40(8):1127-1144. Epub 2019 Jun 22.

Department of Ophthalmology, Ocular Genomics Institute, Berman-Gund Laboratory for the Study of Retinal Degenerations, Massachusetts Eye and Ear, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1002/humu.23762DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7027811PMC
August 2019

Contribution of noncoding pathogenic variants to RPGRIP1-mediated inherited retinal degeneration.

Genet Med 2019 03 3;21(3):694-704. Epub 2018 Aug 3.

Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/s41436-018-0104-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6399075PMC
March 2019

The importance of genetic testing as demonstrated by two cases of -associated retinal generation misdiagnosed as LCA.

Mol Vis 2017 10;23:695-706. Epub 2017 Oct 10.

Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5640518PMC
April 2018

The Genetic Basis of Pericentral Retinitis Pigmentosa-A Form of Mild Retinitis Pigmentosa.

Genes (Basel) 2017 Oct 5;8(10). Epub 2017 Oct 5.

Ocular Genomics Institute, Berman-Gund Laboratory for the Study of Retinal Degenerations, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, MA 02114, USA.

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http://www.mdpi.com/2073-4425/8/10/256
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http://dx.doi.org/10.3390/genes8100256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5664106PMC
October 2017

Copy-number variation is an important contributor to the genetic causality of inherited retinal degenerations.

Genet Med 2017 06 13;19(6):643-651. Epub 2016 Oct 13.

Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/gim.2016.158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377944PMC
June 2017

Course of Ocular Function in PRPF31 Retinitis Pigmentosa.

Semin Ophthalmol 2016 ;31(1-2):49-52

a Department of Ophthalmology , Massachusetts Eye and Ear Infirmary , Boston , Massachusetts , USA.

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http://dx.doi.org/10.3109/08820538.2015.1114856DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6377939PMC
October 2016

Efficient In Silico Identification of a Common Insertion in the MAK Gene which Causes Retinitis Pigmentosa.

PLoS One 2015 11;10(11):e0142614. Epub 2015 Nov 11.

Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0142614PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4641726PMC
June 2016

Targeted exon sequencing in Usher syndrome type I.

Invest Ophthalmol Vis Sci 2014 Dec 2;55(12):8488-96. Epub 2014 Dec 2.

Ocular Genomics Institute, Massachusetts Eye and Ear Infirmary, Harvard Medical School, Boston, Massachusetts, United States Berman-Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts, United States.

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http://dx.doi.org/10.1167/iovs.14-15169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4280089PMC
December 2014

Systemic diseases associated with retinal dystrophies.

Semin Ophthalmol 2014 Sep-Nov;29(5-6):319-28

Department of Ophthalmology, Massachusetts Eye and Ear Infirmary, Harvard Medical School , Boston, Massachusetts , USA.

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http://dx.doi.org/10.3109/08820538.2014.959202DOI Listing
May 2015

Mitochondrial respiratory chain disease discrimination by retrospective cohort analysis of blood metabolites.

Mol Genet Metab 2013 Sep-Oct;110(1-2):145-52. Epub 2013 Jul 19.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.07.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3812452PMC
March 2014

Molecular genetic testing for mitochondrial disease: from one generation to the next.

Neurotherapeutics 2013 Apr;10(2):251-61

Divisions of Human Genetics and Child Development and Metabolic Disease, Department of Pediatrics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1007/s13311-012-0174-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3625386PMC
April 2013

Mitochondrial tRNA-serine (AGY) m.C12264T mutation causes severe multisystem disease with cataracts.

Discov Med 2012 Feb;13(69):143-50

Division of Human Genetics, The Children's Hospital of Philadelphia and University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania 19104, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3618896PMC
February 2012

Successful plasmapheresis for extreme hyperbilirubinemia caused by acute Epstein-Barr virus.

J Pediatr Hematol Oncol 2007 May;29(5):323-6

Department of Hematology/Oncology, Laboratory Medicine and Pathology, Children's Hospitals and Clinics of Minnesota, St Paul, MN 55102, USA.

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http://dx.doi.org/10.1097/MPH.0b013e3180590c11DOI Listing
May 2007