Publications by authors named "Amy Breman"

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International Society for Prenatal Diagnosis 2024 Debate 3-Cytogenetics Is a Dinosaur and Should Be Replaced by Molecular Technologies.
Yassmine M N Akkari, Michael E Talkowski, Amy M Breman

Prenat Diagn· September 2025

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Evaluation of CYP2C19 Clinical Decision Support Alerts to Guide P2Y Inhibitor Prescribing.
Ashley N Springer, Leah A Alicea, Yemi Gafari, Tayler B Smith, Sheryl Lynch, Amy M Breman

Clin Pharmacol Ther· August 2025

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Research-Based Whole Genome Sequencing Identifies Biallelic Loss of Function Variants in DOCK3 Gene Causing DOCK3-Related Disorder: The End of a Diagnostic Journey for This Family.
Khurram Liaqat, Kayla Treat, Lili Mantcheva, Aaron McLaughlin, Amy Breman

Clin Genet· July 2025

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Evaluating first-line genetic testing strategies for inpatients with congenital heart defects.
Al Lindstrom, Amy Breman, Sara Fitzgerald-Butt, Lindsey R Helvaty, Stephanie M Ware

J Genet Couns· June 2025

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Development of a Multifaceted Program for Pharmacogenetics Adoption at an Academic Medical Center: Practical Considerations and Lessons Learned.
Tyler Shugg, Emma M Tillman, Amy M Breman, Jennelle C Hodge, Christine A McDonald

Clin Pharmacol Ther· October 2024

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Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
Morad Ansari, Kamli N W Faour, Akiko Shimamura, Graeme Grimes, Emeline M Kao, Amy M Breman

HGG Adv· April 2024

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Noninvasive single-cell-based prenatal genetic testing: A proof of concept clinical study.
Michelle Bellair, Elisabete Amaral, Mason Ouren, Cameron Roark, Jaeweon Kim, Amy M Breman

Prenat Diagn· March 2024

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Homozygous, Intragenic Tandem Duplication of Causes Neonatal Respiratory Failure.
Jennifer A Wambach, Daniel J Wegner, Joseph Kitzmiller, Frances V White, Hillary B Heins, Amy Breman

Am J Respir Cell Mol Biol· January 2024

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Heterozygous loss-of-function variants are associated with variable and incompletely penetrant growth and developmental features.
Morad Ansari, Kamli N W Faour, Akiko Shimamura, Graeme Grimes, Emeline M Kao, Amy M Breman

medRxiv· September 2023

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Computational pharmacogenotype extraction from clinical next-generation sequencing.
Tyler Shugg, Reynold C Ly, Wilberforce Osei, Elizabeth J Rowe, Caitlin A Granfield, Amy M Breman

Front Oncol· July 2023

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Factors that influence genetic counselors' participation in research.
Kaitlin Sikkink, Paula Delk, Leah Wetherill, Amy Breman, Melissa Wesson

J Genet Couns· April 2023

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A 9.8 Mb deletion at 7q31.2q31.31 downstream of in an individual with speech and language impairment suggests a possible positional effect.
Aiko Iwata-Otsubo, Victoria H Klee, Aaliya A Ahmad, Laurence E Walsh, Amy M Breman

Clin Case Rep· November 2022

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Girl-Boy Twins with Developmental Delay from 16p11.2 Triplication due to Biparental Inheritance from Two Parents with 16p11.2 Duplication.
Sidrah A Badar, Amy M Breman, Celanie K Christensen, Brett H Graham, Meredith R Golomb

Cytogenet Genome Res· June 2022

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Management of amended variant classification laboratory reports by genetic counselors in the United States and Canada: An exploratory study.
Brooke Richardson, Sara M Fitzgerald-Butt, Katherine G Spoonamore, Leah Wetherill, Benjamin M Helm, Amy M Breman

J Genet Couns· April 2022

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Use of amplicon-based sequencing for testing fetal identity and monogenic traits with Single Circulating Trophoblast (SCT) as one form of cell-based NIPT.
Xinming Zhuo, Qun Wang, Liesbeth Vossaert, Roseen Salman, Adriel Kim, Amy Breman

PLoS One· October 2021

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Two Patients with Complex Rearrangements Suggestive of Germline Chromoanagenesis.
Priyanka Arya, Jennelle C Hodge, Peggy A Matlock, Gail H Vance, Amy M Breman

Cytogenet Genome Res· April 2021

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Cytogenetically visible inversions are formed by multiple molecular mechanisms.
Maria Pettersson, Christopher M Grochowski, Josephine Wincent, Jesper Eisfeldt, Amy M Breman

Hum Mutat· November 2020

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Human and mouse studies establish TBX6 in Mendelian CAKUT and as a potential driver of kidney defects associated with the 16p11.2 microdeletion syndrome.
Nan Yang, Nan Wu, Shuangshuang Dong, Ling Zhang, Yanxue Zhao, Amy M Breman

Kidney Int· October 2020

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CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels.
Bo Yuan, Lei Wang, Pengfei Liu, Chad Shaw, Hongzheng Dai, Amy M Breman

Genet Med· October 2020

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Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings.
Qian Liu, Justyna A Karolak, Christopher M Grochowski, Theresa A Wilson, Jill A Rosenfeld, Amy Breman

Genomics· September 2020

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An adult female with 5q34-q35.2 deletion: A rare syndromic presentation of left ventricular non-compaction and congenital heart disease.
Priyanka Arya, Theodore E Wilson, John J Parent, Stephanie M Ware, Amy M Breman

Eur J Med Genet· April 2020

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An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.
Valerie J Castelluccio, Francesco Vetrini, Ty Lynnes, Julie Jones, Lynda Holloway, Amy M Breman

Am J Med Genet A· December 2019

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Validation Studies for Single Circulating Trophoblast Genetic Testing as a Form of Noninvasive Prenatal Diagnosis.
Liesbeth Vossaert, Qun Wang, Roseen Salman, Anne K McCombs, Vipulkumar Patel, Amy M Breman

Am J Hum Genet· December 2019

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Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Avinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, Pengfei Liu, Hongzheng Dai, Amy M Breman

Genome Med· May 2019

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Pretransplant HLA typing revealed loss of heterozygosity in the major histocompatibility complex in a patient with acute myeloid leukemia.
Andrew L Lobashevsky, Mary Krueger-Sersen, Rebecca M Britton, Courtney A Littrell, Susmita Singh, Amy M Breman

Hum Immunol· April 2019

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