Vicki Jackson

A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease

Matthew Moll, Victoria E Jackson, Bing Yu, Megan L Grove, Stephanie J London, Sina A Gharib, Traci M Bartz, Colleen M Sitlani, Josee Dupuis, George T O'Connor, Hanfei Xu, Patricia A Cassano, Bonnie Kaufmann Patchen, Woo Jin Kim, Jinkyeong Park, Kun Hee Kim, Buhm Han, R Graham Barr, Ani Manichaikul, Jennifer N Nguyen, et al.

Journal article  |  2021  |  AMERICAN JOURNAL OF PHYSIOLOGY-LUNG CELLULAR AND MOLECULAR PHYSIOLOGY

Genome-wide association studies (GWASs) have identified regions associated with chronic obstructive pulmonary disease (COPD). GWAS..

Meta-analysis of up to 622,409 individuals identifies 40 novel smoking behaviour associated genetic loci

A Mesut Erzurumluoglu, Mengzhen Liu, Victoria E Jackson, Daniel R Barnes, Gargi Datta, Carl A Melbourne, Robin Young, Chiara Batini, Praveen Surendran, Tao Jiang, Sheikh Daud Adnan, Saima Afaq, Arpana Agrawal, Elisabeth Altmaier, Antonis C Antoniou, Folkert W Asselbergs, Clemens Baumbach, Laura Bierut, Sarah Bertelsen, Michael Boehnke, et al.

Journal article  |  2020  |  MOLECULAR PSYCHIATRY

Smoking is a major heritable and modifiable risk factor for many diseases, including cancer, common respiratory disorders and card..

Identification of genetic factors influencing metabolic dysregulation and retinal support for MacTel, a retinal disorder

R Bonelli, VE Jackson, A Prasad, JE Munro, TFC Heeren, N Pontikos, L Scheppke, M Friedlander, CA Egan, R Allikmets, BRE Ansell, M Bahlo, undefined MacTel Consortium

Journal article  |  2020

Macular Telangiectasia Type 2 (MacTel) is a rare degenerative retinal disease with complex genetic architecture. We performed a ge..

Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation

Michael S Hildebrand, Victoria E Jackson, Thomas S Scerri, Olivia Van Reyk, Matthew Coleman, Ruth O Braden, Samantha Turner, Kristin A Rigbye, Amber Boys, Sarah Barton, Richard Webster, Michael Fahey, Kerryn Saunders, Bronwyn Parry-Fielder, Georgia Paxton, Michael Hayman, David Coman, Himanshu Goel, Anne Baxter, Alan Ma, et al.

Journal article  |  2020  |  NEUROLOGY

OBJECTIVE: Determining the genetic basis of speech disorders provides insight into the neurobiology of human communication. Despit..

Inhibition of Upf2-Dependent Nonsense-Mediated Decay Leads to Behavioral and Neurophysiological Abnormalities by Activating the Immune Response

Jennifer L Johnson, Loredana Stoica, Yuwei Liu, Ping Jun Zhu, Abhisek Bhattacharya, Shelly A Buffington, Redwan Huq, N Tony Eissa, Ola Larsson, Bo T Porse, Deepti Domingo, Urwah Nawaz, Renee Carroll, Lachlan Jolly, Tom S Scerri, Hyung-Goo Kim, Amanda Brignell, Matthew J Coleman, Ruth Braden, Usha Kini, et al.

Journal article  |  2019  |  NEURON

In humans, disruption of nonsense-mediated decay (NMD) has been associated with neurodevelopmental disorders (NDDs) such as autism..

Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia

Kamal Khan, Michael Zech, Angela T Morgan, David J Amor, Matej Skorvanek, Tahir N Khan, Michael S Hildebrand, Victoria E Jackson, Thomas S Scerri, Matthew Coleman, Kristin A Rigbye, Ingrid E Scheffer, Melanie Bahlo, Matias Wagner, Daniel D Lam, Riccardo Berutti, Petra Havrankova, Anna Fecikova, Tim M Strom, Vladimir Han, et al.

Journal article  |  2019  |  GENETICS IN MEDICINE

PURPOSE: The purpose of this study was to expand the genetic architecture of neurodevelopmental disorders, and to characterize the..

Expansion of phenotype of DDX3X syndrome: six new cases

Bryony Beal, Ian Hayes, Julie McGaughran, David J Amor, Christina Miteff, Victoria Jackson, Olivia van Reyk, Gopinath Subramanian, Michael S Hildebrand, Angela T Morgan, Himanshu Goel

Journal article  |  2019  |  CLINICAL DYSMORPHOLOGY

Pathogenic variants in DDX3X have recently been identified to be a relatively common cause of intellectual disability in females. ..

Exome Chip Meta-analysis Fine Maps Causal Variants and Elucidates the Genetic Architecture of Rare Coding Variants in Smoking and Alcohol Use

David M Brazel, Yu Jiang, Jordan M Hughey, Valerie Turcot, Xiaowei Zhan, Jian Gong, Chiara Batini, J Dylan Weissenkampen, MengZhen Liu, Daniel R Barnes, Sarah Bertelsen, Yi-Ling Chou, A Mesut Erzurumluoglu, Jessica D Faul, Jeff Haessler, Anke R Hammerschlag, Chris Hsu, Manav Kapoor, Dongbing Lai, Nhung Le, et al.

Journal article  |  2019  |  BIOLOGICAL PSYCHIATRY

BACKGROUND: Smoking and alcohol use have been associated with common genetic variants in multiple loci. Rare variants within these..

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

Nick Shrine, Anna L Guyatt, A Mesut Erzurumluoglu, Victoria E Jackson, Brian D Hobbs, Carl A Melbourne, Chiara Batini, Katherine A Fawcett, Kijoung Song, Phuwanat Sakornsakolpat, Xingnan Li, Ruth Boxall, Nicola F Reeve, Ma'en Obeidat, Jing Hua Zhao, Matthias Wielscher, Stefan Weiss, Katherine A Kentistou, James P Cook, Benjamin B Sun, et al.

Journal article  |  2019  |  NATURE GENETICS

Reduced lung function predicts mortality and is key to the diagnosis of chronic obstructive pulmonary disease (COPD). In a genome-..

Genetic landscape of chronic obstructive pulmonary disease identifies heterogeneous cell-type and phenotype associations

Phuwanat Sakornsakolpat, Dmitry Prokopenko, Maxime Lamontagne, Nicola F Reeve, Anna L Guyatt, Victoria E Jackson, Nick Shrine, Dandi Qiao, Traci M Bartz, Deog Kyeom Kim, Mi Kyeong Lee, Jeanne C Latourelle, Xingnan Li, Jarrett D Morrow, Ma'en Obeidat, Annah B Wyss, Per Bakke, R Graham Barr, Terri H Beaty, Steven A Belinsky, et al.

Journal article  |  2019  |  NATURE GENETICS

Chronic obstructive pulmonary disease (COPD) is the leading cause of respiratory mortality worldwide. Genetic risk loci provide ne..