Vicki Jackson

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

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..

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  |  2019  |  Molecular Psychiatry

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

Multiethnic meta-analysis identifies ancestry-specific and cross-ancestry loci for pulmonary function

Annah B Wyss, Tamar Sofer, Mi Kyeong Lee, Natalie Terzikhan, Jennifer N Nguyen, Lies Lahousse, Jeanne C Latourelle, Albert Vernon Smith, Traci M Bartz, Mary F Feitosa, Wei Gao, Tarunveer S Ahluwalia, Wenbo Tang, Christopher Oldmeadow, Qing Duan, Kim de Jong, Mary K Wojczynski, Xin-Qun Wang, Raymond Noordam, Fernando Pires Hartwig, et al.

Journal article  |  2018  |  Nature Communications

Nearly 100 loci have been identified for pulmonary function, almost exclusively in studies of European ancestry populations. We ex..

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 Gao, Beenish Qaiser, David J Porteous, Patricia A Cassano, Tarunveer S Ahluwalia, Niels Grarup, Jin Li, Elisabeth Altmaier, Jonathan Marten, Sarah E Harris, Ani Manichaikul, Tess D Pottinger, et al.

Journal article  |  2018  |  Wellcome open research

Background: Over 90 regions of the genome have been associated with lung function to date, many of which have also been implicated..

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 Gao, Beenish Qaiser, David J Porteous, Patricia A Cassano, Tarunveer S Ahluwalia, Niels Grarup, Jin Li, Elisabeth Altmaier, Jonathan Marten, Sarah E Harris, Ani Manichaikul, Tess D Pottinger, et al.

Journal article  |  2018  |  Wellcome Open Research

Background: Over 90 regions of the genome have been associated with lung function to date, many of which have also been implicated..

Meta-analysis of exome array data identifies six novel genetic loci for lung function [version 1; peer review: 1 approved, 1 approved with reservations]

VE Jackson, JC Latourelle, LV Wain, AV Smith, ML Grove, TM Bartz, M Obeidat, MA Province, W Gao, B Qaiser, DJ Porteous, PA Cassano, TS Ahluwalia, N Grarup, J Li, E Altmaier, J Marten, SE Harris, A Manichaikul, TD Pottinger, et al.

Journal article  |  2018  |  Wellcome Open Research

Background: Over 90 regions of the genome have been associated with lung function to date, many of which have also been implicated..

Phenotypic and pharmacogenetic evaluation of patients with thiazide-induced hyponatremia

James S Ware, Louise V Wain, Sarath K Channavajjhala, Victoria E Jackson, Elizabeth Edwards, Run Lu, Keith Siew, Wenjing Jia, Nick Shrine, Sue Kinnear, Mahli Jalland, Amanda P Henry, Jenny Clayton, Kevin M O'Shaughnessy, Martin D Tobin, Victor L Schuster, Stuart Cook, Ian P Hall, Mark Glover

Journal article  |  2017  |  Journal of Clinical Investigation

Thiazide diuretics are among the most widely used treatments for hypertension, but thiazide-induced hyponatremia (TIH), a clinical..

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

Victoria Jackson, Jeanne Latourelle, Louise Wain, Albert Smith, Megan Grove, Traci Bartz, Maen Obeidat, Michael Province, Wei Gao, Beenish Qaiser, David Porteous, Patricia Cassano, Tarunveer Ahluwalia, Niels Grarup, Jin Li, Elisabeth Altmaier, Jonathan Marten, Sarah Harris, Ani Manichaikul, Tess Pottinger, et al.

Journal article  |  2017

Abstract Over 90 regions of the genome have been associated with lung function to date, many of which have also been implicated in..

Evidence for large-scale gene-by-smoking interaction effects on pulmonary function

Hugues Aschard, Martin D Tobin, Dana B Hancock, David Skurnik, Akshay Sood, Alan James, Albert Vernon Smith, Aniw Manichaikul, Archie Campbell, Bram P Prins, Caroline Hayward, Daanw Loth, David J Porteous, David P Strachan, Eleftheria Zeggini, George T O'Connor, Guy G Brusselle, H Marike Boezen, Holger Schulz, Ian J Deary, et al.

Journal article  |  2017  |  International Journal of Epidemiology

Background: Smoking is the strongest environmental risk factor for reduced pulmonary function. The genetic component of various pu..

Genetic loci associated with chronic obstructive pulmonary disease overlap with loci for lung function and pulmonary fibrosis

Brian D Hobbs, Kim de Jong, Maxime Lamontagne, Yohan Bosse, Nick Shrine, Maria Soler Artigas, Louise V Wain, Ian P Hall, Victoria E Jackson, Annah B Wyss, Stephanie J London, Kari E North, Nora Franceschini, David P Strachan, Terri H Beaty, John E Hokanson, James D Crapo, Peter J Castaldi, Robert P Chase, Traci M Bartz, et al.

Journal article  |  2017  |  Nature Genetics

Chronic obstructive pulmonary disease (COPD) is a leading cause of mortality worldwide. We performed a genetic association study i..

Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets

Louise V Wain, Nick Shrine, Maria Soler Artigas, A Mesut Erzurumluoglu, Boris Noyvert, Lara Bossini-Castillo, Ma'en Obeidat, Amanda P Henrys, Michael A Portelli, Robert J Hall, Charlotte K Billington, Tracy L Rimington, Anthony G Fenech, Catherine John, Tineka Blake, Victoria E Jackson, Richard J Allen, Bram P Prins, Archie Campbell, David J Porteous, et al.

Journal article  |  2017  |  Nature Genetics

Chronic obstructive pulmonary disease (COPD) is characterized by reduced lung function and is the third leading cause of death glo..

Exome-wide analysis of rare coding variation identifies novel associations with COPD and airflow limitation in MOCS3, IFIT3 and SERPINA12

Victoria E Jackson, Ioanna Ntalla, Ian Sayers, Richard Morris, Peter Whincup, Juan-Pablo Casas, Antoinette Amuzu, Minkyoung Choi, Caroline Dale, Meena Kumari, Jorgen Engmann, Noor Kalsheker, Sally Chappell, Tamar Guetta-Baranes, Tricia M McKeever, Colin NA Palmer, Roger Tavendale, John W Holloway, Avan A Sayer, Elaine M Dennison, et al.

Journal article  |  2016  |  THORAX

BACKGROUND: Several regions of the genome have shown to be associated with COPD in genome-wide association studies of common varia..

Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation

Maria Soler Artigas, Louise V Wain, Suzanne Miller, Abdul Kader Kheirallah, Jennifer E Huffman, Ioanna Ntalla, Nick Shrine, Ma'en Obeidat, Holly Trochet, Wendy L McArdle, Alexessander Couto Alves, Jennie Hui, Jing Hua Zhao, Peter K Joshi, Alexander Teumer, Eva Albrecht, Medea Imboden, Rajesh Rawal, Lorna M Lopez, Jonathan Marten, et al.

Journal article  |  2015  |  Nature Communications

Lung function measures are used in the diagnosis of chronic obstructive pulmonary disease. In 38,199 European ancestry individuals..

Novel insights into the genetics of smoking behaviour, lung function, and chronic obstructive pulmonary disease (UK BiLEVE): a genetic association study in UK Biobank

Louise V Wain, Nick Shrine, Suzanne Miller, Victoria E Jackson, Ioanna Ntalla, Maria Soler Artigas, Charlotte K Billington, Abdul Kader Kheirallah, Richard Allen, James P Cook, Kelly Probert, Ma'en Obeidat, Yohan Bosse, Ke Hao, Dirkje S Postma, Peter D Pare, Adaikalavan Ramasamy, Reedik Maegi, Evelin Mihailov, Eva Reinmaa, et al.

Journal article  |  2015  |  The Lancet Respiratory Medicine

BACKGROUND: Understanding the genetic basis of airflow obstruction and smoking behaviour is key to determining the pathophysiology..

Causal and Synthetic Associations of Variants in the SERPINA Gene Cluster with Alpha1-antitrypsin Serum Levels

Gian Andri Thun, Medea Imboden, Ilaria Ferrarotti, Ashish Kumar, Ma'en Obeidat, Michele Zorzetto, Margot Haun, Ivan Curjuric, Alexessander Couto Alves, Victoria E Jackson, Eva Albrecht, Janina S Ried, Alexander Teumer, Lorna M Lopez, Jennifer E Huffman, Stefan Enroth, Yohan Bosse, Ke Hao, Wim Timens, Ulf Gyllensten, et al.

Journal article  |  2013  |  PLoS Genetics

Several infrequent genetic polymorphisms in the SERPINA1 gene are known to substantially reduce concentration of alpha1-antitrypsi..

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 Gao, Beenish Qaiser, David J Porteous, Patricia A Cassano, Tarunveer S Ahluwalia, Niels Grarup, Jin Li, Elisabeth Altmaier, Jonathan Marten, Sarah E Harris, Ani Manichaikul, Tess D Pottinger, et al.

Journal article  |  Wellcome Open Research

Background: Over 90 regions of the genome have been associated with lung function to date, many of which have also been implicated..

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

Roberto Bonelli, Victoria E Jackson, Aravind Prasad, Jacob E Munro, Tjebo FC Heeren, Nikolas Pontikos, Lea Scheppke, Martin Friedlander, Catherine E Egan, Rando Allikmets, Brendan RE Ansell, Melanie Bahlo

Journal article

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