Publications by authors named "Amy Turriff"

23Publications

Vestibular phenotype-genotype correlation in a cohort of 90 patients with Usher syndrome.

Clin Genet 2020 Oct 21. Epub 2020 Oct 21.

Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1111/cge.13868DOI Listing
October 2020

Clinical Features of Optic Disc Drusen in an Ophthalmic Genetics Cohort.

J Ophthalmol 2020 6;2020:5082706. Epub 2020 Oct 6.

National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1155/2020/5082706DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7557906PMC
October 2020

Atypical and ultra-rare Usher syndrome: a review.

Ophthalmic Genet 2020 10 6;41(5):401-412. Epub 2020 May 6.

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health , Bethesda, MD, USA.

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http://dx.doi.org/10.1080/13816810.2020.1747090DOI Listing
October 2020

Psychosocial impacts of Mendelian eye conditions: A systematic literature review.

Surv Ophthalmol 2020 Sep - Oct;65(5):562-580. Epub 2020 Feb 12.

Ophthalmic Genetics & Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.survophthal.2020.02.002DOI Listing
February 2020

Expanding the genotypic spectrum of Jalili syndrome: Novel CNNM4 variants and uniparental isodisomy in a north American patient cohort.

Am J Med Genet A 2020 03 5;182(3):493-497. Epub 2020 Feb 5.

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1002/ajmg.a.61484DOI Listing
March 2020

Reply.

J AAPOS 2020 02 11;24(1):58-59. Epub 2020 Jan 11.

National Eye Institute, National Institutes of Health, Bethesda, Maryland.

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http://dx.doi.org/10.1016/j.jaapos.2019.10.009DOI Listing
February 2020

"There Are Hills and Valleys": Experiences of Parenting a Son With X-Linked Retinoschisis.

Am J Ophthalmol 2020 04 23;212:98-104. Epub 2019 Nov 23.

Social & Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA; National Eye Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1016/j.ajo.2019.11.023DOI Listing
April 2020

Considerations in multi-gene panel testing in pediatric ophthalmology.

J AAPOS 2019 06 12;23(3):163-165.e1. Epub 2019 Feb 12.

National Eye Institute, National Institutes of Health, Bethesda, Maryland. Electronic address:

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http://dx.doi.org/10.1016/j.jaapos.2019.01.008DOI Listing
June 2019

Analysis of Anatomic and Functional Measures in X-Linked Retinoschisis.

Invest Ophthalmol Vis Sci 2018 06;59(7):2841-2847

Ocular Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States.

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http://dx.doi.org/10.1167/iovs.17-23297DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5987578PMC
June 2018

Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.

BMC Ophthalmol 2017 Aug 24;17(1):157. Epub 2017 Aug 24.

Intramural IT and Bioinformatics Program, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1186/s12886-017-0549-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5571584PMC
August 2017

The Impact of Living with Klinefelter Syndrome: A Qualitative Exploration of Adolescents and Adults.

J Genet Couns 2017 Aug 10;26(4):728-737. Epub 2016 Nov 10.

Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1007/s10897-016-0041-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5425317PMC
August 2017

Cone responses in Usher syndrome types 1 and 2 by microvolt electroretinography.

Invest Ophthalmol Vis Sci 2014 Nov 25;56(1):107-14. Epub 2014 Nov 25.

National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, United States.

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http://dx.doi.org/10.1167/iovs.14-15355DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4288141PMC
November 2014

Test-Retest Intervisit Variability of Functional and Structural Parameters in X-Linked Retinoschisis.

Transl Vis Sci Technol 2014 Sep 3;3(5). Epub 2014 Oct 3.

National Eye Institute, National Institutes of Health, Bethesda, MD.

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http://dx.doi.org/10.1167/tvst.3.5.5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4187428PMC
September 2014

Factors associated with adaptation to Klinefelter syndrome: the experience of adolescents and adults.

Patient Educ Couns 2015 Jan 27;98(1):90-5. Epub 2014 Aug 27.

Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1016/j.pec.2014.08.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5160995PMC
January 2015

CNGB3-achromatopsia clinical trial with CNTF: diminished rod pathway responses with no evidence of improvement in cone function.

Invest Ophthalmol Vis Sci 2014 Sep 9;55(10):6301-8. Epub 2014 Sep 9.

National Eye Institute, National Institutes of Health, Bethesda, Maryland, United States National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Bethesda, Maryland, United States.

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http://dx.doi.org/10.1167/iovs.14-14860DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4191169PMC
September 2014

Sorting out co-occurrence of rare monogenic retinopathies: Stargardt disease co-existing with congenital stationary night blindness.

Ophthalmic Genet 2014 Mar 7;35(1):51-6. Epub 2014 Jan 7.

National Eye Institute, National Institutes of Health , Bethesda, MD , USA.

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http://dx.doi.org/10.3109/13816810.2013.865762DOI Listing
March 2014

Development and validation of the Psychological Adaptation Scale (PAS): use in six studies of adaptation to a health condition or risk.

Patient Educ Couns 2013 Nov 28;93(2):248-54. Epub 2013 Aug 28.

Social and Behavioral Research Branch, National Human Genome Research Institute, Bethesda, USA; Health, Behavior and Society, Johns Hopkins Bloomberg, School of Public Health, Baltimore, USA. Electronic address:

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http://dx.doi.org/10.1016/j.pec.2013.05.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3810267PMC
November 2013

X-linked retinoschisis: RS1 mutation severity and age affect the ERG phenotype in a cohort of 68 affected male subjects.

Invest Ophthalmol Vis Sci 2011 Nov 29;52(12):9250-6. Epub 2011 Nov 29.

Ophthalmic Genetics and Visual Function Branch, National Eye Institute, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1167/iovs.11-8115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3302432PMC
November 2011

Prevalence and psychosocial correlates of depressive symptoms among adolescents and adults with Klinefelter syndrome.

Genet Med 2011 Nov;13(11):966-72

Social and Behavioral Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1097/GIM.0b013e3182227576DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3208082PMC
November 2011