This study conducts a GWAS meta-analysis of stuttering, identifying genetic links with speech disorders and highlighting shared genetic architecture across different ascertainment methods.

medRxiv · Sep 16, 2026 · PreprintGenetic & Genomic Medicine

The genetic architecture of MRI derived human cervical spinal cord morphology reveals sensory-motor axis and biomarkers of neurological and systemic diseases

Zhuopin Sun, Jiru Han, Zachary F. Gerring, Victoria E. Jackson, Oneil G. Bhalala, Ian H. Harding, Thiago Junqueira Ribeiro de Rezende, Melanie Bahlo

This study identifies genetic variants associated with cervical spinal cord morphology and links them to neurological and systemic diseases.

medRxiv · Aug 5, 2025 · PreprintGenetic & Genomic Medicine

Genetic aetiologies for childhood speech disorder: novel pathways co-expressed during brain development

Antony Kaspi, Michael S. Hildebrand, Victoria E. Jackson, Ruth O. Braden, Olivia van Reyk, Tegan Howell, Simone Debono, Mariana L. Lauretta, Lottie D. Morison, Matthew Coleman, Richard Webster, David John Coman, Himanshu Goel, Mathew Wallis, Gabriel Dabscheck, , Angela Tamsin Morgan

This study identifies 18 high-confidence genetic variants in 26% of childhood apraxia of speech cases, expanding the list of candidate genes and highlighting shared pathways with other neurodevelopmental disorders.

Molecular Psychiatry · Sep 18, 2022Peer-reviewedGenetic & Genomic Medicine

Multi-omic Analysis of Developing Human Retina and Organoids Reveals Cell-Specific Cis-Regulatory Elements and Mechanisms of Non-Coding Genetic Disease Risk.

Eric D. Thomas, Andrew E. Timms, Sarah Giles, Sarah R. Harkins-Perry, Pin Lyu, Thanh V. Hoang, Jiang X. Qian, Victoria E. Jackson, Melanie Bahlo, Seth Blackshaw, Martin Friedlander, Kevin Eade, Timothy J. Cherry

The paper identifies cell-class-specific cis-regulatory elements in human retina and organoids, showing their correlation and function in development and disease.

Developmental Cell · Mar 1, 2022Peer-reviewedDevelopmental Biology

Expanded genetic landscape of chronic obstructive pulmonary disease reveals heterogeneous cell type and phenotype associations

Phuwanat Sakornsakolpat, Dmitry Prokopenko, Maxime Lamontagne, Nicola F. Reeve, Anna L. Guyatt, Victoria E. Jackson, Nick R. G. Shrine, Dandi Qiao, Traci M. Bartz, Deog Kyeom Kim, Mi Kyeong Lee, Jeanne C. Latourelle, Xingnan Li, Jarrett D. Morrow, Ma’en Obeidat, , Nicholas J. Wareham

This study expands the genetic landscape of COPD by identifying 82 risk loci, revealing associations with lung function, cell types, and comorbidities.

Nature Genetics · Feb 25, 2019Peer-reviewedGenetics

New genetic signals for lung function highlight pathways and pleiotropy, and chronic obstructive pulmonary disease associations across multiple ancestries

Nick R. G. Shrine, Anna L. Guyatt, Abdullah Mesut Erzurumluoglu, Victoria E. Jackson, Brian D. Hobbs, Carl Melbourne, Chiara Batini, Katherine A. Fawcett, Kijoung S Song, Phuwanat Sakornsakolpat, Xingnan Li, Ruth Boxall, Nicola F. Reeve, Ma’en Obeidat, Jing Hua Zhao, , Andrew P. Morris

The paper identifies 279 new genetic signals for lung function across multiple ancestries, showing associations with COPD and pleiotropic effects.

Nature Genetics · Feb 25, 2019Peer-reviewedGenomics

Multiethnic Meta-analysis Identifies New Loci for Pulmonary Function

Annah B. Wyss, Tamar Sofer, Mi Kyeong Lee, Natalie Terzikhan, Jennifer N. Nguyen, Lies Lahousse, Jeanne C. Latourelle, Albert V. Smith, Traci M. Bartz, Mary Furlan Feitosa, Wei Dong Gao, Tarunveer S. Ahluwalia, Wenbo Tang, Christopher J. Oldmeadow, Qing Duan, , Josée Dupuis

This study identifies over 50 new genetic loci associated with pulmonary function through a multiethnic meta-analysis of 90,715 individuals.

Nature Communications · Jul 24, 2018Peer-reviewedGenetics

Meta-analysis of exome array data identifies six novel genetic loci for lung function

Victoria E. Jackson, Jeanne C. Latourelle, Louise V. Wain, Albert V. Smith, Megan L. Grove, Traci M. Bartz, Ma’en Obeidat, Michael A. Province, Wei Dong Gao, Beenish Qaiser, David John Porteous, Patricia A. Cassano, Tarunveer S. Ahluwalia, Niels Grarup, Jin Li, , Sven Gläser

Wellcome Open Research · Jan 12, 2018Peer-reviewedGenetics