Amy M. Breman
Biochemistry, Genetics and Molecular Biology · Indiana University
Publications
111
Citations
3,490
Est. group size
—
Recurring co-author estimate
Active years
20
Publishing since 2007
Amy M. Breman studies the genetics of rare diseases and birth defects, focusing on how to detect chromosomal and genetic abnormalities before and after birth. Her work spans prenatal testing methods, whole genome and exome sequencing to diagnose undiagnosed conditions, and the clinical use of genetic tests to guide patient care. Much of the research aims to improve diagnosis for families affected by inherited disorders and to evaluate new testing technologies.
Publication activity has declined from a peak around 2017-2019 to a steady output of roughly four to five papers per year over the past five years.
Generated by claude-opus-4-8 from public bibliographic data · Jul 9, 2026
Typically publishes in teams of ~17 · 2% small-team papers (≤3 authors) · across 36 venues
- Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential
Prenatal Diagnosis · 2026
- CYP2D6-Guided Opioid Management and Postoperative Pain Control
JAMA Network Open · 2026
- P686: A rare Iso-Xq variant in Klinefelter syndrome: Newborn case study
Genetics in Medicine Open · 2026
- Genetic Testing for APOL1 in Adults With Hypertension
JAMA Network Open · 2026
- P795: Detection of mosaic Prader-Willi syndrome in a buccal sample by CMA and WES
Genetics in Medicine Open · 2025
- Evaluating first‐line genetic testing strategies for inpatients with congenital heart defects
Journal of Genetic Counseling · 2025
- International Society for Prenatal Diagnosis 2024 Debate 3—Cytogenetics Is a Dinosaur and Should Be Replaced by Molecular Technologies
Prenatal Diagnosis · 2025
- 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
Clinical Genetics · 2025
- P535: The undiagnosed rare disease clinic program of Indiana University: Lessons learned from the first 100 patients enrolled (Phase-I pilot)
Genetics in Medicine Open · 2024
- Noninvasive single‐cell‐based prenatal genetic testing: A proof of concept clinical study
Prenatal Diagnosis · 2024
- Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features
Human Genetics and Genomics Advances · 2024
- Homozygous, Intragenic Tandem Duplication of SFTPB Causes Neonatal Respiratory Failure
American Journal of Respiratory Cell and Molecular Biology · 2023
- Heterozygous loss-of-function SMC3 variants are associated with variable and incompletely penetrant growth and developmental features
medRxiv · 2023
- Validation study for noninvasive single-cell-based prenatal genetic testing
medRxiv · 2023
- Girl-Boy Twins with Developmental Delay from 16p11.2 Triplication due to Biparental Inheritance from Two Parents with 16p11.2 Duplication
Cytogenetic and Genome Research · 2022
- Figshare×15
- Prenatal Diagnosis×8
- Genetics in Medicine×3
- Journal of Genetic Counseling×3
- medRxiv×3
- Todd Ackley
Biochemistry, Genetics and Molecular Biology · University of Michigan
- Melanie Babcock
Biochemistry, Genetics and Molecular Biology · The Ohio State University
- Theodora Matthews
Biochemistry, Genetics and Molecular Biology · The Ohio State University
- Megan R. Glassford
Biochemistry, Genetics and Molecular Biology · University of Michigan
- Patrícia Dias
Biochemistry, Genetics and Molecular Biology · The Ohio State University
This profile was generated automatically from public scholarly data (OpenAlex). Group size and activity levels are estimates derived from co-authorship patterns.
Last updated Sep 1, 2026.
Claim or correct this profile