Amy E Turriff

发表

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

P. Sieving, W. Zein, B. Jeffrey, 2014, Investigative ophthalmology & visual science.

Retinal AAV8-RS1 Gene Therapy for X-Linked Retinoschisis: Initial Findings from a Phase I/IIa Trial by Intravitreal Delivery.

P. Sieving, B. Jeffrey, C. Cukras, 2018, Molecular therapy : the journal of the American Society of Gene Therapy.

Motivations and Decision-Making Processes of Men with X-linked Retinoschisis Considering Participation in an Ocular Gene Therapy Trial.

P. Sieving, B. Biesecker, C. Cukras, 2019, American journal of ophthalmology.

Prenatal DNA Sequencing for Fetal Aneuploidy Also Detects Maternal Cancer: Importance of Timely Workup and Management in Pregnant Women.

D. Bianchi, C. Annunziata, Amy E Turriff, 2022, Journal of clinical oncology : official journal of the American Society of Clinical Oncology.

Investigating Determinants and Evaluating Deep Learning Training Approaches for Visual Acuity in Foveal Hypoplasia

D. Adams, W. Zein, B. Brooks, 2022, Ophthalmology science.

Analysis of Anatomic and Functional Measures in X-Linked Retinoschisis

P. Sieving, B. Jeffrey, C. Cukras, 2018, Investigative ophthalmology & visual science.

Sorting out Co-occurrence of Rare Monogenic Retinopathies: Stargardt Disease Co-existing with Congenital Stationary Night Blindness

P. Sieving, B. Jeffrey, C. Cukras, 2014, Ophthalmic genetics.

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

Ellen F. Macnamara, B. Biesecker, H. Levy, 2017, Journal of Genetic Counseling.

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

Yang C. Fann, Wadih M. Zein, K. Wetherby, 2017, BMC Ophthalmology.

Considerations in multi-gene panel testing in pediatric ophthalmology.

C. Cukras, B. Brooks, Amy E Turriff, 2019, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Atypical and ultra-rare Usher syndrome: a review

A. Griffith, T. Friedman, W. Zein, 2020, Ophthalmic genetics.

Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotes

Heidi L Rehm, Wadih M Zein, Zawar Hussain, 2011, Journal of Medical Genetics.

DICER1 Syndrome: Characterization of the Ocular Phenotype in a Family-Based Cohort Study.

D. Gombos, W. Zein, R. Hufnagel, 2019, Ophthalmology.

Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder

P. Sieving, C. Cukras, E. Ullah, 2022, Genes.

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

B. Biesecker, H. Levy, Amy E Turriff, 2011, Genetics in Medicine.

Photoreceptor degeneration in ABCA4-associated retinopathy and its genetic correlates

W. Zein, B. Jeffrey, C. Cukras, 2022, JCI insight.

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

A. Griffith, T. Friedman, W. Zein, 2020, Clinical genetics.

Early-Onset TIMP3-Related Retinopathy Associated With Impaired Signal Peptide.

C. Cukras, R. Hufnagel, Zhiyu Li, 2022, JAMA ophthalmology.

Psychosocial Impacts of Mendelian Eye Conditions: A Systematic Literature Review.

L. Huryn, C. D'Amanda, Rosalie Nolen, 2020, Survey of ophthalmology.

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

P. Sieving, B. Jeffrey, C. Cukras, 2014, Translational vision science & technology.

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

P. Sieving, C. Cukras, S. Vitale, 2011, Investigative ophthalmology & visual science.

Clinical Features of Optic Disc Drusen in an Ophthalmic Genetics Cohort

W. Zein, C. Cukras, D. Cunningham, 2020, Journal of ophthalmology.

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

B. Biesecker, H. Levy, Amy E Turriff, 2015, Patient education and counseling.

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

S. Woolford, B. Reeve, Amanda E Lamb, 2013, Patient education and counseling.

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

P. Sieving, A. Griffith, T. Friedman, 2014, Investigative ophthalmology & visual science.

Variants of LRP2, encoding a multifunctional cell‐surface endocytic receptor, associated with hearing loss and retinal dystrophy

S. Leal, S. Riazuddin, T. Friedman, 2023, Clinical genetics.

"There are hills and valleys": Experiences of parenting a son with X-linked retinoschisis.

P. Sieving, B. Biesecker, C. Cukras, 2019, American journal of ophthalmology.

Patients' perspectives on prenatal screening results that suggest maternal cancer: A qualitative analysis

C. Annunziata, S. Miner, Amy E Turriff, 2023, Prenatal diagnosis.

Persistent Dark Cones in Oligocone Trichromacy Revealed by Multimodal Adaptive Optics Ophthalmoscopy

A. Dubra, Jianfei Liu, D. Hammer, 2021, Frontiers in Aging Neuroscience.

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

S. Woolford, B. Reeve, Amanda E Lamb, 2013, Patient education and counseling.