This paper develops a specific pipeline to detect balanced reciprocal translocations in genomic data and applies it across multiple cohorts to assess their prevalence and diagnostic impact.

medRxiv · Oct 5, 2026 · PreprintGenetic & Genomic Medicine

Domain specific phenotypic expansion associated with variants in MACF1

Nikhita Gogate, Angad Jolly, Jill Anne Rosenfeld, Paulina Bahena Carbajal, Diana Carrasco, Jonathan A. Bernstein, Devon E. Bonner, Tiffany Busa, Ingrid Cristian, Precilla D’Souza, Jennifer Friedman, Svetlana Gorokhova, Thomas Haaf, Isabella Herman, Uğur Ufuk Işın, , Shamil R. Sunyaev

The paper identifies domain-specific phenotypic effects of MACF1 variants outside the GAR domain, revealing broader neurodevelopmental and craniofacial anomalies.

Genetics in Medicine · Oct 1, 2026Peer-reviewedGenetic & Genomic Medicine

Ensilication preserves high-molecular weight native DNA for clinical long-read sequencing

Alexis Ferrasse, Rodrigo Mendez, John E. Gorzynski, Chloe M. Reuter, Jennefer N. Carter, Michael Blas, Undiagnosed Diseases Network, Alyssa A. Tran, Arjun Tarakad, Ashok Balasubramanyam, Brendan Lee, Carlos A. Bacino, Daryl A. Scott, Elaine Seto, Gary D. Clark, , Carlos A. Pardo-Villamizar

This paper demonstrates that ensilication preserves DNA integrity at ambient temperature, enabling diagnostic-quality long-read sequencing without cold-chain infrastructure.

Genome biology · Jun 15, 2026Peer-reviewedGenetic & Genomic Medicine

Exome Sequencing in Individuals with Isolated Biliary Atresia

Ramakrishnan Rajagopalan, Ellen A. Tsai, Christopher M. Grochowski, Susan M. Kelly, Kathleen M. Loomes, Nancy Bettina Spinner, Marcella Devoto

This study performs exome sequencing in 100 patients with isolated biliary atresia to identify genetic variants, finding no common causal genes but a de novo mutation in STIP1.

Scientific Reports · Feb 17, 2020Peer-reviewedGenetics