The paper introduces a scalable toolkit for 3D surface-based brain analysis, demonstrating its utility in mapping subcortical shape variations across 21 international samples.

Lecture notes in computer science · Oct 4, 2025Peer-reviewedNeuroscience

A blended genome and exome sequencing method captures genetic variation in an unbiased, high-quality, and cost-effective manner

Toni A. Boltz, Benjamin B. Chu, Calwing Liao, Julia Sealock, Robert Ye, Lerato Majara, Jack M. Fu, Susan K. Service, Lingyu Zhan, Sarah Elizabeth Medland, Sinéad B. Chapman, Simone Rubinacci, Matthew T. DeFelice, Jonna Grimsby, Tamrat Abebe, , Alicia R. Martin

The paper introduces BGE, a sequencing method that combines low-pass whole genome and deep whole exome data, showing high accuracy and cost-effectiveness for genetic variant discovery.

bioRxiv · Sep 6, 2024 · PreprintGenomics

Connectome architecture shapes large-scale cortical alterations in schizophrenia: a worldwide ENIGMA study

Foivos Georgiadis, Sara Larivière, David C. Glahn, Liyi Elliot Hong, Peter V Kochunov, Bryan J. Mowry, Carmel Maree Loughland, Christos Pantelis, Frans Alexander Henskens, Melissa J. Green, Murray J. Cairns, Patricia Therese Michie, Paul E. Rasser, Stanley Victor Catts, Paul A. Tooney, , Matthias Kirschner

This study investigates how structural brain alterations in schizophrenia relate to network architecture, finding hub susceptibility and shared epicenters across disease stages and disorders.

Molecular Psychiatry · Feb 9, 2024Peer-reviewedNeuroscience

Distinct and shared contributions of diagnosis and symptom domains to cognitive performance in a case-control study of severe mental illness in the Paisa population

Susan K. Service, Cristian Vargas Upeguí, Mauricio Castaño Ramírez, Allison M. Port, Tyler M. Moore, Marfred Munoz Umanes, Luis Guillermo Agudelo Arango, Ana M. Díaz‐Zuluaga, Juanita Melo Espejo, María Cecilia López, Juan David Palacio, Sergio Ruiz Sánchez, Johanna Valencia Echeverry, Terri M. Teshiba, Alesandra Espinoza, , Nelson B. Freimer

The paper investigates how diagnosis and symptom domains affect cognitive performance in a case-control study of severe mental illness, finding distinct cognitive profiles linked to specific symptom domains.

The Lancet Psychiatry · Apr 27, 2020Peer-reviewedNeuroscience

Contribution of common and rare variants to bipolar disorder susceptibility in extended pedigrees from population isolates

Jae Hoon Sul, Susan K. Service, Alden Huang, Vasily E. Ramensky, Sun‐Goo Hwang, Terri M. Teshiba, YoungJun Park, Anil P. S. Ori, Zhongyang Zhang, Niamh Mullins, Loes M. Olde Loohuis, Scott C. Fears, Carmen Araya, Xinia Araya, Mitzi Spesny, , Nelson B. Freimer

This study examines genetic risk for bipolar disorder in extended families, finding that both common and rare variants contribute to susceptibility, with no significant segregation of large-effect variants.

Translational Psychiatry · Feb 24, 2020Peer-reviewedGenetics

Understanding the Hidden Complexity of Latin American Population Isolates

Jazlyn A. Mooney, Christian D. Huber, Susan K. Service, Jae Hoon Sul, Clare Diana Marsden, Zhongyang Zhang, Chiara Sabatti, Andrés Ruiz‐Linares, Gabriel Bedoya, Nelson B. Freimer, Kirk E. Lohmueller, Scott C. Fears, Bárbara Kremeyer, Carmen Araya Lic, Xinia Araya Lic, , Giovanni Coppola

The paper analyzes genomic diversity in Latin American population isolates, finding increased genetic diversity and consanguinity compared to the Finnish isolate.

The American Journal of Human Genetics · Oct 25, 2018Peer-reviewedGenomics