Splicing in the Diagnosis of Rare Disease: Advances and Challenges

por Lord, Jenny, Baralle, Diana
Publicado 2021

Identification of rare variants in Alzheimer’s disease

por Lord, Jenny, Lu, Alexander J., Cruchaga, Carlos
Publicado 2014

CI-SpliceAI—Improving machine learning predictions of disease causing splicing variants using curated alternative splice sites

por Strauch, Yaron, Lord, Jenny, Niranjan, Mahesan, Baralle, Diana
Publicado 2022

Microtubule modification defects underlie cilium degeneration in cell models of retinitis pigmentosa associated with pre-mRNA splicing factor mutations

por Nazlamova, Liliya, Villa Vasquez, Suly Saray, Lord, Jenny, Karthik, Varshini, Cheung, Man-Kim, Lakowski, Jörn, Wheway, Gabrielle
Publicado 2022

A CRISPR and high-content imaging assay compliant with ACMG/AMP guidelines for clinical variant interpretation in ciliopathies

por Nazlamova, Liliya, Thomas, N. Simon, Cheung, Man-Kim, Legebeke, Jelmer, Lord, Jenny, Pengelly, Reuben J., Tapper, William J., Wheway, Gabrielle
Publicado 2020

Whole genome sequencing in the diagnosis of primary ciliary dyskinesia

por Wheway, Gabrielle, Thomas, N. Simon, Carroll, Mary, Coles, Janice, Doherty, Regan, Goggin, Patricia, Green, Ben, Harris, Amanda, Hunt, David, Jackson, Claire L., Lord, Jenny, Mennella, Vito, Thompson, James, Walker, Woolf T., Lucas, Jane S.
Publicado 2021

Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies

por Quinlan-Jones, Elizabeth, Lord, Jenny, Williams, Denise, Hamilton, Sue, Marton, Tamas, Eberhardt, Ruth Y., Rinck, Gabriele, Prigmore, Elena, Keelagher, Rebecca, McMullan, Dominic J., Maher, Eamonn R., Hurles, Matthew E., Kilby, Mark D.
Publicado 2018

Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

por Wai, Htoo A., Lord, Jenny, Lyon, Matthew, Gunning, Adam, Kelly, Hugh, Cibin, Penelope, Seaby, Eleanor G., Spiers-Fitzgerald, Kerry, Lye, Jed, Ellard, Sian, Thomas, N. Simon, Bunyan, David J., Douglas, Andrew G. L., Baralle, Diana
Publicado 2020

Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance

por Wai, Htoo A., Lord, Jenny, Lyon, Matthew, Gunning, Adam, Kelly, Hugh, Cibin, Penelope, Seaby, Eleanor G., Spiers-Fitzgerald, Kerry, Lye, Jed, Ellard, Sian, Thomas, N. Simon, Bunyan, David J., Douglas, Andrew G. L., Baralle, Diana
Publicado 2020

Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project

por Best, Sunayna, Lord, Jenny, Roche, Matthew, Watson, Christopher M, Poulter, James A, Bevers, Roel P J, Stuckey, Alex, Szymanska, Katarzyna, Ellingford, Jamie M, Carmichael, Jenny, Brittain, Helen, Toomes, Carmel, Inglehearn, Chris, Johnson, Colin A, Wheway, Gabrielle
Publicado 2022

Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach

por Best, Sunayna, Yu, Jing, Lord, Jenny, Roche, Matthew, Watson, Christopher Mark, Bevers, Roel P J, Stuckey, Alex, Madhusudhan, Savita, Jewell, Rosalyn, Sisodiya, Sanjay M, Lin, Siying, Turner, Stephen, Robinson, Hannah, Leslie, Joseph S, Baple, Emma, Toomes, Carmel, Inglehearn, Chris, Wheway, Gabrielle, Johnson, Colin A
Publicado 2022

Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease()

por Sassi, Celeste, Guerreiro, Rita, Gibbs, Raphael, Ding, Jinhui, Lupton, Michelle K., Troakes, Claire, Lunnon, Katie, Al-Sarraj, Safa, Brown, Kristelle S., Medway, Chirstopher, Lord, Jenny, Turton, James, Mann, David, Snowden, Julie, Neary, David, Harris, Jeniffer, Bras, Jose, Morgan, Kevin, Powell, John F., Singleton, Andrew, Hardy, John
Publicado 2014

Investigating the role of rare coding variability in Mendelian dementia genes (APP, PSEN1, PSEN2, GRN, MAPT, and PRNP) in late-onset Alzheimer's disease

por Sassi, Celeste, Guerreiro, Rita, Gibbs, Raphael, Ding, Jinhui, Lupton, Michelle K., Troakes, Claire, Al-Sarraj, Safa, Niblock, Michael, Gallo, Jean-Marc, Adnan, Jihad, Killick, Richard, Brown, Kristelle S., Medway, Christopher, Lord, Jenny, Turton, James, Bras, Jose, Morgan, Kevin, Powell, John F., Singleton, Andrew, Hardy, John
Publicado 2014

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1133 families with developmental disorders

por Wright, Caroline F., McRae, Jeremy F., Clayton, Stephen, Gallone, Giuseppe, Aitken, Stuart, FitzGerald, Tomas W., Jones, Philip, Prigmore, Elena, Rajan, Diana, Lord, Jenny, Sifrim, Alejandro, Kelsell, Rosemary, Parker, Michael J., Barrett, Jeffrey C., Hurles, Matthew E., FitzPatrick, David R., Firth, Helen V.
Publicado 2018

Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer’s Disease

por Sassi, Celeste, Ridge, Perry G., Nalls, Michael A., Gibbs, Raphael, Ding, Jinhui, Lupton, Michelle K., Troakes, Claire, Lunnon, Katie, Al-Sarraj, Safa, Brown, Kristelle S., Medway, Christopher, Lord, Jenny, Turton, James, Morgan, Kevin, Powell, John F., Kauwe, John S., Cruchaga, Carlos, Bras, Jose, Goate, Alison M., Singleton, Andrew B., Guerreiro, Rita, Hardy, John
Publicado 2016

Evaluating the Immune Response in Treatment-Naive Hospitalised Patients With Influenza and COVID-19

por Legebeke, Jelmer, Lord, Jenny, Penrice-Randal, Rebekah, Vallejo, Andres F., Poole, Stephen, Brendish, Nathan J., Dong, Xiaofeng, Hartley, Catherine, Holloway, John W., Lucas, Jane S., Williams, Anthony P., Wheway, Gabrielle, Strazzeri, Fabio, Gardner, Aaron, Schofield, James P. R., Skipp, Paul J., Hiscox, Julian A., Polak, Marta E., Clark, Tristan W., Baralle, Diana
Publicado 2022

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project

por Blakes, Alexander J. M., Wai, Htoo A., Davies, Ian, Moledina, Hassan E., Ruiz, April, Thomas, Tessy, Bunyan, David, Thomas, N. Simon, Burren, Christine P., Greenhalgh, Lynn, Lees, Melissa, Pichini, Amanda, Smithson, Sarah F., Taylor Tavares, Ana Lisa, O’Donovan, Peter, Douglas, Andrew G. L., Whiffin, Nicola, Baralle, Diana, Lord, Jenny
Publicado 2022

Blood gene expression predicts intensive care unit admission in hospitalised patients with COVID-19

por Penrice-Randal, Rebekah, Dong, Xiaofeng, Shapanis, Andrew George, Gardner, Aaron, Harding, Nicholas, Legebeke, Jelmer, Lord, Jenny, Vallejo, Andres F., Poole, Stephen, Brendish, Nathan J., Hartley, Catherine, Williams, Anthony P., Wheway, Gabrielle, Polak, Marta E., Strazzeri, Fabio, Schofield, James P. R., Skipp, Paul J., Hiscox, Julian A., Clark, Tristan W., Baralle, Diana
Publicado 2022

Caspase-8, association with Alzheimer’s Disease and functional analysis of rare variants

por Rehker, Jan, Rodhe, Johanna, Nesbitt, Ryan R., Boyle, Evan A., Martin, Beth K., Lord, Jenny, Karaca, Ilker, Naj, Adam, Jessen, Frank, Helisalmi, Seppo, Soininen, Hilkka, Hiltunen, Mikko, Ramirez, Alfredo, Scherer, Martin, Farrer, Lindsay A., Haines, Jonathan L., Pericak-Vance, Margaret A., Raskind, Wendy H., Cruchaga, Carlos, Schellenberg, Gerard D., Joseph, Bertrand, Brkanac, Zoran
Publicado 2017

Systematic identification of disease-causing promoter and untranslated region variants in 8,040 undiagnosed individuals with rare disease

por Martin-Geary, Alexandra C, Blakes, Alexander J M, Dawes, Ruebena, Findlay, Scott D, Lord, Jenny, Walker, Susan, Talbot-Martin, Jonathan, Wieder, Nechama, D’Souza, Elston N, Fernandes, Maria, Hilton, Sarah, Lahiri, Nayana, Campbell, Christopher, Jenkinson, Sarah, DeGoede, Christian G E L, Anderson, Emily R, Burge, Christopher B., Sanders, Stephan J, Ellingford, Jamie, Baralle, Diana, Banka, Siddharth, Whiffin, Nicola
Publicado 2023