This study identifies a shared mechanism of increased lumen size due to reduced apical constriction in brain organoids caused by valproic acid and SHROOM3 knockout.

Cells · Jun 23, 2023Peer-reviewedNeuroscience

Impact of prenatal exome sequencing for fetal genetic diagnosis on maternal psychological outcomes and decisional conflict in a prospective cohort

Asha N. Talati, Kelly L. Gilmore, Emily Hardisty, Anne Drapkin Lyerly, Christine Killingsworth Rini, Neeta L. Vora

This study evaluates the psychological impact of prenatal trio exome sequencing on women with anomalous pregnancies, finding increased distress in those who received explanatory results.

Genetics in Medicine · Nov 19, 2020Peer-reviewedGenetic & Genomic Medicine

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

Chelsea Lowther, Elise Valkanas, Jessica L. Giordano, Harold Z. Wang, Benjamin Currall, Kathryn O’Keefe, Emma Pierce‐Hoffman, Nehir Edibe Kurtas, Christopher W. Whelan, Stephanie P. Hao, Ben Weisburd, Vahid Jalili, Jack M. Fu, Isaac Wong, Ryan L. Collins, , Michael E. Talkowski

This study evaluates genome sequencing as a single diagnostic approach for fetal structural anomalies, showing it detects nearly all variants from standard tests and provides higher diagnostic yield than individual tests.

bioRxiv · Aug 12, 2020 · PreprintGenomics

Noninvasive prenatal exome sequencing inefficient for detecting single-gene disorders -- problems and possible solutions

Dayne L. Filer, Piotr A. Mieczkowski, Alicia Brandt, Kelly L. Gilmore, Bradford C. Powell, Jonathan S. Berg, Kirk C. Wilhelmsen, Neeta L. Vora

This study shows exome sequencing of cell-free DNA is limited by technical issues and sampling challenges, making it unsuitable for noninvasive prenatal detection of single-gene disorders.

medRxiv · Aug 4, 2020 · PreprintGenetic & Genomic Medicine