Publications by authors named "Alan Rope"

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Cascade testing in an ovarian cancer traceback genetic testing program: The GRACE study experience.
Jamilyn M Zepp, Heather S Feigelson, Yolanda K Prado, Ana A Reyes, Alan F Rope

J Genet Couns· December 2025

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Genetic Testing Uptake among Ovarian Cancer Survivors in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study.
Larissa L White, Jennifer K Sawyer, Jamilyn M Zepp, Yolanda K Prado, Ana A Reyes, Alan F Rope

Cancers (Basel)· July 2024

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Improving Care for Marginalized Populations at Risk for Hereditary Cancer Syndromes: Innovations that Expanded Reach in the CHARM Study.
Marian J Gilmore, Sarah Knerr, Stephanie A Kraft, Joanna E Bulkley, Barbara B Biesecker, Alan F Rope

Public Health Genomics· February 2024

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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.
Maninder Kaur, Justin Blair, Batsal Devkota, Sierra Fortunato, Dinah Clark, Alan F Rope

Am J Med Genet A· August 2023

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An Examination of the Ethical and Legal Limits in Implementing "Traceback Testing" for Deceased Patients.
Jessica Martucci, Yolanda Prado, Alan F Rope, Sheila Weinmann, Larissa White

J Law Med Ethics· March 2023

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Corrigendum to "Cancer Health Assessments Reaching Many (CHARM): A clinical trial assessing a multimodal cancer genetics services delivery program and its impact on diverse populations" [Contemporary Clinical Trials 106 (2021) 106432].
Kathleen F Mittendorf, Tia L Kauffman, Laura M Amendola, Katherine P Anderson, Barbara B Biesecker, Alan F Rope

Contemp Clin Trials· March 2022

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Development and evaluation of an exome sequencing training course for medical interpreters.
Leslie Riddle, Leah S Karliner, Jennifer Livaudais-Toman, Claudia Guerra, Cynthia E Roat, Alan F Rope

Per Med· March 2022

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Feasibility of a Traceback Approach for Using Pathology Specimens to Facilitate Genetic Testing in the Genetic Risk Analysis in Ovarian Cancer (GRACE) Study Protocol.
Tia L Kauffman, Yolanda K Prado, Ana A Reyes, Jamilyn M Zepp, Jennifer Sawyer, Alan F Rope

J Pers Med· November 2021

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Response to Hamosh et al.
Leslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, Anne R Amemiya, Michael J Bamshad, Alan F Rope

Am J Hum Genet· September 2021

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Cancer Health Assessments Reaching Many (CHARM): A clinical trial assessing a multimodal cancer genetics services delivery program and its impact on diverse populations.
Kathleen F Mittendorf, Tia L Kauffman, Laura M Amendola, Katherine P Anderson, Barbara B Biesecker, Alan F Rope

Contemp Clin Trials· July 2021

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Development and early implementation of an Accessible, Relational, Inclusive and Actionable approach to genetic counseling: The ARIA model.
Leslie Riddle, Laura M Amendola, Marian J Gilmore, Claudia Guerra, Barbara Biesecker, Alan F Rope

Patient Educ Couns· May 2021

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A dyadic approach to the delineation of diagnostic entities in clinical genomics.
Leslie G Biesecker, Margaret P Adam, Fowzan S Alkuraya, Anne R Amemiya, Michael J Bamshad, Alan F Rope

Am J Hum Genet· January 2021

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Seizures and Cardiomyopathy in a Patient with Pallister-Killian Syndrome due to Hexasomy 12p Mosaicism.
Reha M Toydemir, Emanuele Panza, Maria C Longhurst, Sarah T South, Alan F Rope

Mol Syndromol· July 2020

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Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Hanyin Cheng, Leah Gottlieb, Elaine Marchi, Robert Kleyner, Puja Bhardwaj, Alan F Rope

Hum Mol Genet· March 2020

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Recommended care and care adherence following a diagnosis of Lynch syndrome: a mixed-methods study.
Kathleen F Mittendorf, Jessica Ezzell Hunter, Jennifer L Schneider, Elizabeth Shuster, Alan F Rope

Hered Cancer Clin Pract· December 2019

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Missense variants in TAF1 and developmental phenotypes: challenges of determining pathogenicity.
Hanyin Cheng, Simona Capponi, Emma Wakeling, Elaine Marchi, Quan Li, Alan Rope

Hum Mutat· October 2019

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Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.
Hanyin Cheng, Leah Gottlieb, Elaine Marchi, Robert Kleyner, Puja Bhardwaj, Alan F Rope

Hum Mol Genet· September 2019

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Implementation of a Systematic Tumor Screening Program for Lynch Syndrome in an Integrated Health Care Setting.
Elizabeth V Clarke, Kristin R Muessig, Jamilyn Zepp, Jessica E Hunter, Sapna Syngal, Alan F Rope

Fam Cancer· July 2019

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A case for expanding carrier testing to include actionable X-linked disorders.
Alan F Rope, Tia L Kauffman, Pat Himes, Laura M Amendola, Sumit Punj

Clin Case Rep· November 2018

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Preconception Carrier Screening by Genome Sequencing: Results from the Clinical Laboratory.
Sumit Punj, Yassmine Akkari, Jennifer Huang, Fei Yang, Allison Creason, Alan F Rope

Am J Hum Genet· June 2018

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Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.
Hanyin Cheng, Avinash V Dharmadhikari, Sylvia Varland, Ning Ma, Deepti Domingo, Alan F Rope

Am J Hum Genet· May 2018

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Lessons Learned From A Study Of Genomics-Based Carrier Screening For Reproductive Decision Making.
Benjamin S Wilfond, Tia L Kauffman, Gail P Jarvik, Jacob A Reiss, C Sue Richards, Alan F Rope

Health Aff (Millwood)· May 2018

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Patient and provider perspectives on adherence to and care coordination of lynch syndrome surveillance recommendations: findings from qualitative interviews.
Jennifer L Schneider, Katrina A B Goddard, Kristin R Muessig, James V Davis, Alan F Rope

Hered Cancer Clin Pract· May 2018

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Genome sequencing and carrier testing: decisions on categorization and whether to disclose results of carrier testing.
Patricia Himes, Tia L Kauffman, Kristin R Muessig, Laura M Amendola, Jonathan S Berg, Alan F Rope

Genet Med· July 2017

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Universal screening for Lynch syndrome among patients with colorectal cancer: patient perspectives on screening and sharing results with at-risk relatives.
Jessica Ezzell Hunter, Kathleen A Arnold, Jennifer E Cook, Jamilyn Zepp, Marian J Gilmore, Alan F Rope

Fam Cancer· July 2017

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