This study models the genomic architecture of adiposity and anthropometrics across the lifespan, identifying shared and distinct genetic factors and their associations with health outcomes.

Nature Communications · Aug 13, 2025Peer-reviewedGenetic & Genomic Medicine

Characterizing substructure via mixture modeling in large-scale genetic summary statistics

Hayley R Stoneman, Adelle Price, Nikole Scribner Trout, Riley Lamont, Souha Tifour, Nikita V. Pozdeyev, Heather D. Anderson, Christina L. Aquilante, Kelsey Arbogast, Christopher H. Arehart, Ian M. Brooks, Tonya M. Brunetti, Judith Brutus-Lestin, Elizabeth E. Burke, Emily M. Casteel, , Katie M. Marker

Summix2 uses mixture modeling to estimate and adjust for substructure in genetic summary data, improving the robustness and equity of research using diverse datasets.

The American Journal of Human Genetics · Jan 16, 2025Peer-reviewedGenomics

Defining the Critical Educational Components of Informed Consent for Genetic Testing: Views of US-Based Genetic Counselors and Medical Geneticists

Miranda L. G. Hallquist, Maia J. Borensztein, Curtis R. Coughlin, Adam H. Buchanan, W. Andrew Faucett, Holly Landrum Peay, Maureen E. Smith, Eric P. Tricou, Wendy R. Uhlmann, Karen E. Wain, the CADRe workgroup, Kelly E. Ormond

The paper surveys genetic professionals on the sufficiency of core informed consent concepts for genetic testing, finding high agreement on their adequacy for informed decision-making.

European Journal of Human Genetics · Jun 12, 2023Peer-reviewedGenetic & Genomic Medicine

Defining the Critical Components of Informed Consent for Genetic Testing: A Delphi Study

Kelly E. Ormond, Maia J. Borensztein, Miranda L. G. Hallquist, Adam H. Buchanan, W. Andrew Faucett, Holly Landrum Peay, Maureen E. Smith, Eric P. Tricou, Wendy R. Uhlmann, Karen E. Wain, Curtis R. Coughlin

This study identifies core concepts essential for informed consent in genetic testing through a Delphi process involving experts in genetics and bioethics.

Journal of Personalized Medicine · Dec 5, 2021Peer-reviewedGenetic & Genomic Medicine

Genome mapping resolves structural variation within segmental duplications associated with microdeletion/microduplication syndromes

Yulia Mostovoy, Feyza Yilmaz, Stephen K. Chow, Catherine Chu, Chin Jia Lin, Elizabeth A. Geiger, Naomi J. L. Meeks, Kathryn C. Chatfield, Curtis R. Coughlin, Pui–Yan Kwok, Tamim H. Shaikh

The paper presents a high-throughput optical mapping technique to genotype structural variation in segmental duplications, identifying novel variants and refining breakpoints in microdeletion syndromes across diverse populations.

bioRxiv · Apr 30, 2020 · PreprintGenomics

Abnormal expression of GABAA receptor sub-units and hypomotility upon loss of gabra1 in zebrafish.

Nayeli G. Reyes‐Nava, Hung‐Chun Yu, Curtis R. Coughlin, Tamim H. Shaikh, Anita M. Quintana

The paper identifies a GABRA1 mutation in a patient with seizures, creates a zebrafish model to study its effects, and shows hypomotility and subunit expression defects.

Biology Open · Jan 1, 2020Peer-reviewedDevelopmental Biology

The 22q11 low copy repeats are characterized by unprecedented size and structure variability

Wolfram Demaerel, Yulia Mostovoy, Feyza Yilmaz, Lisanne Vervoort, Steven J. Pastor, Matthew S. Hestand, Ann Swillen, Elfi Vergaelen, Elizabeth A. Geiger, Curtis R. Coughlin, Stephen K. Chow, Donna M. McDonald‐McGinn, Bernice E. Morrow, Pui–Yan Kwok, Ming Xiao, , Joris Robert Vermeesch

The paper characterizes the structural variability of 22q11 low copy repeats (LCRs) using optical and Bionano mapping, revealing high haplotype diversity and population-specific differences.

Genome Research · Sep 1, 2019Peer-reviewedGenomics