Screening for functional regulatory variants in open chromatin using GenIE-ATAC

por Cooper, Sarah, Schwartzentruber, Jeremy, Coomber, Eve L, Wu, Qianxin, Bassett, Andrew
Publicado 2023

Screening for functional transcriptional and splicing regulatory variants with GenIE

por Cooper, Sarah E, Schwartzentruber, Jeremy, Bello, Erica, Coomber, Eve L, Bassett, Andrew R
Publicado 2020

Bridging the Gap between Single Molecule and Ensemble Methods for Measuring Lateral Dynamics in the Plasma Membrane

por Arnspang, Eva C., Schwartzentruber, Jeremy, Clausen, Mathias P., Wiseman, Paul W., Lagerholm, B. Christoffer
Publicado 2013

A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature

por Frosk, Patrick, Chodirker, Bernard, Simard, Louise, El-Matary, Wael, Hanlon-Dearman, Ana, Schwartzentruber, Jeremy, Majewski, Jacek, Rockman-Greenberg, Cheryl
Publicado 2015

Differential stability of 2′F-ANA•RNA and ANA•RNA hybrid duplexes: roles of structure, pseudohydrogen bonding, hydration, ion uptake and flexibility

por Watts, Jonathan K., Martín-Pintado, Nerea, Gómez-Pinto, Irene, Schwartzentruber, Jeremy, Portella, Guillem, Orozco, Modesto, González, Carlos, Damha, Masad J.
Publicado 2010

The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome

por McDonell, Laura M, Warman Chardon, Jodi, Schwartzentruber, Jeremy, Foster, Denise, Beaulieu, Chandree L, Majewski, Jacek, Bulman, Dennis E, Boycott, Kym M
Publicado 2014

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease

por McMillan, Hugh J, Schwartzentruber, Jeremy, Smith, Amanda, Lee, Suzie, Chakraborty, Pranesh, Bulman, Dennis E, Beaulieu, Chandree L, Majewski, Jacek, Boycott, Kym M, Geraghty, Michael T
Publicado 2014

Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

por Huang, Lijia, Chardon, Jodi Warman, Carter, Melissa T, Friend, Kathie L, Dudding, Tracy E, Schwartzentruber, Jeremy, Zou, Ruobing, Schofield, Peter W, Douglas, Stuart, Bulman, Dennis E, Boycott, Kym M
Publicado 2012

Whole genome sequencing and imputation in isolated populations identify genetic associations with medically-relevant complex traits

por Southam, Lorraine, Gilly, Arthur, Süveges, Dániel, Farmaki, Aliki-Eleni, Schwartzentruber, Jeremy, Tachmazidou, Ioanna, Matchan, Angela, Rayner, Nigel W., Tsafantakis, Emmanouil, Karaleftheri, Maria, Xue, Yali, Dedoussis, George, Zeggini, Eleftheria
Publicado 2017

Correction to: Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia

por Huang, Lijia, Warman-Chardon, Jodi, Carter, Melissa T., Friend, Kathie L., Dudding, Tracy E., Schwartzentruber, Jeremy, Zou, Ruobing, Schofield, Peter W., Douglas, Stuart, Bulman, Dennis E., Boycott, Kym M.
Publicado 2022

Genetic variants associated with psychiatric disorders are enriched at epigenetically active sites in lymphoid cells

por Lynall, Mary-Ellen, Soskic, Blagoje, Hayhurst, James, Schwartzentruber, Jeremy, Levey, Daniel F., Pathak, Gita A., Polimanti, Renato, Gelernter, Joel, Stein, Murray B., Trynka, Gosia, Clatworthy, Menna R., Bullmore, Ed
Publicado 2022

Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria

por Marcadier, Julien L, Smith, Amanda M, Pohl, Daniela, Schwartzentruber, Jeremy, Al-Dirbashi, Osama Y, Majewski, Jacek, Ferdinandusse, Sacha, Wanders, Ronald JA, Bulman, Dennis E, Boycott, Kym M, Chakraborty, Pranesh, Geraghty, Michael T
Publicado 2013

Genome-wide meta-analysis, fine-mapping, and integrative prioritization implicate new Alzheimer’s disease risk genes

por Schwartzentruber, Jeremy, Cooper, Sarah, Liu, Jimmy Z., Barrio-Hernandez, Inigo, Bello, Erica, Kumasaka, Natsuhiko, Young, Adam M. H., Franklin, Robin J. M., Johnson, Toby, Estrada, Karol, Gaffney, Daniel J., Beltrao, Pedro, Bassett, Andrew
Publicado 2021

CCDC88B is a novel regulator of maturation and effector functions of T cells during pathological inflammation

por Kennedy, James M., Fodil, Nassima, Torre, Sabrina, Bongfen, Silayuv E., Olivier, Jean-Frédéric, Leung, Vicki, Langlais, David, Meunier, Charles, Berghout, Joanne, Langat, Pinky, Schwartzentruber, Jeremy, Majewski, Jacek, Lathrop, Mark, Vidal, Silvia M., Gros, Philippe
Publicado 2014

Genome-wide association study of developmental dysplasia of the hip identifies an association with GDF5

por Hatzikotoulas, Konstantinos, Roposch, Andreas, Shah, Karan M., Clark, Matthew J., Bratherton, Selina, Limbani, Vasanti, Steinberg, Julia, Zengini, Eleni, Warsame, Kaltuun, Ratnayake, Madhushika, Tselepi, Maria, Schwartzentruber, Jeremy, Loughlin, John, Eastwood, Deborah M., Zeggini, Eleftheria, Wilkinson, J. Mark
Publicado 2018

Network expansion of genetic associations defines a pleiotropy map of human cell biology

por Barrio-Hernandez, Inigo, Schwartzentruber, Jeremy, Shrivastava, Anjali, del-Toro, Noemi, Gonzalez, Asier, Zhang, Qian, Mountjoy, Edward, Suveges, Daniel, Ochoa, David, Ghoussaini, Maya, Bradley, Glyn, Hermjakob, Henning, Orchard, Sandra, Dunham, Ian, Anderson, Carl A., Porras, Pablo, Beltrao, Pedro
Publicado 2023

CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation

por Martin, Emmanuel, Palmic, Noé, Sanquer, Sylvia, Lenoir, Christelle, Hauck, Fabian, Mongellaz, Cédric, Fabrega, Sylvie, Nitschké, Patrick, Esposti, Mauro Degli, Schwartzentruber, Jeremy, Taylor, Naomi, Majewski, Jacek, Jabado, Nada, Wynn, Robert, Picard, Capucine, Fischer, Alain, Arkwright, Peter, Latour, Sylvain
Publicado 2014

Very low-depth whole-genome sequencing in complex trait association studies

por Gilly, Arthur, Southam, Lorraine, Suveges, Daniel, Kuchenbaecker, Karoline, Moore, Rachel, Melloni, Giorgio E M, Hatzikotoulas, Konstantinos, Farmaki, Aliki-Eleni, Ritchie, Graham, Schwartzentruber, Jeremy, Danecek, Petr, Kilian, Britt, Pollard, Martin O, Ge, Xiangyu, Tsafantakis, Emmanouil, Dedoussis, George, Zeggini, Eleftheria
Publicado 2019

Intellectual disability associated with a homozygous missense mutation in THOC6

por Beaulieu, Chandree L, Huang, Lijia, Innes, A Micheil, Akimenko, Marie-Andree, Puffenberger, Erik G, Schwartz, Charles, Jerry, Paul, Ober, Carole, Hegele, Robert A, McLeod, D Ross, Schwartzentruber, Jeremy, Majewski, Jacek, Bulman, Dennis E, Parboosingh, Jillian S, Boycott, Kym M
Publicado 2013

Integrative GWAS and co-localisation analysis suggests novel genes associated with age-related multimorbidity

por West, Clare E., Karim, Mohd, Falaguera, Maria J., Speidel, Leo, Green, Charlotte J., Logie, Lisa, Schwartzentruber, Jeremy, Ochoa, David, Lord, Janet M., Ferguson, Michael A. J., Bountra, Chas, Wilkinson, Graeme F., Vaughan, Beverley, Leach, Andrew R., Dunham, Ian, Marsden, Brian D.
Publicado 2023