A Māori specific RFC1 pathogenic repeat configuration in CANVAS, likely due to a founder allele
Beecroft, Sarah J, Cortese, Andrea, Sullivan, Roisin, Yau, Wai Yan, Dyer, Zoe, Wu, Teddy Y, Mulroy, Eoin, Pelosi, Luciana, Rodrigues, Miriam, Taylor, Rachael, Mossman, Stuart, Leadbetter, Ruth, Cleland, James, Anderson, Tim, Ravenscroft, Gianina, Laing, Nigel G, Houlden, Henry, Reilly, Mary M, Roxburgh, Richard H
Published in Brain (London, England : 1878) (01.09.2020)
Published in Brain (London, England : 1878) (01.09.2020)
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Journal Article
A novel RFC1 repeat motif (ACAGG) in two Asia-Pacific CANVAS families
Scriba, Carolin K, Beecroft, Sarah J, Clayton, Joshua S, Cortese, Andrea, Sullivan, Roisin, Yau, Wai Yan, Dominik, Natalia, Rodrigues, Miriam, Walker, Elizabeth, Dyer, Zoe, Wu, Teddy Y, Davis, Mark R, Chandler, David C, Weisburd, Ben, Houlden, Henry, Reilly, Mary M, Laing, Nigel G, Lamont, Phillipa J, Roxburgh, Richard H, Ravenscroft, Gianina
Published in Brain (London, England : 1878) (01.10.2020)
Published in Brain (London, England : 1878) (01.10.2020)
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Journal Article
STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci
Dashnow, Harriet, Pedersen, Brent S, Hiatt, Laurel, Brown, Joe, Beecroft, Sarah J, Ravenscroft, Gianina, LaCroix, Amy J, Lamont, Phillipa, Roxburgh, Richard H, Rodrigues, Miriam J, Davis, Mark, Mefford, Heather C, Laing, Nigel G, Quinlan, Aaron R
Published in Genome Biology (14.12.2022)
Published in Genome Biology (14.12.2022)
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Journal Article
Targeted gene panel use in 2249 neuromuscular patients: the Australasian referral center experience
Beecroft, Sarah J., Yau, Kyle S., Allcock, Richard J. N., Mina, Kym, Gooding, Rebecca, Faiz, Fathimath, Atkinson, Vanessa J., Wise, Cheryl, Sivadorai, Padma, Trajanoski, Daniel, Kresoje, Nina, Ong, Royston, Duff, Rachael M., Cabrera‐Serrano, Macarena, Nowak, Kristen J., Pachter, Nicholas, Ravenscroft, Gianina, Lamont, Phillipa J., Davis, Mark R., Laing, Nigel G.
Published in Annals of clinical and translational neurology (01.03.2020)
Published in Annals of clinical and translational neurology (01.03.2020)
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Journal Article
Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure
Weihl, Conrad C., Töpf, Ana, Bengoechea, Rocio, Duff, Jennifer, Charlton, Richard, Garcia, Solange Kapetanovic, Domínguez-González, Cristina, Alsaman, Abdulaziz, Hernández-Laín, Aurelio, Franco, Luis Varona, Sanchez, Monica Elizabeth Ponce, Beecroft, Sarah J., Goullee, Hayley, Daw, Jil, Bhadra, Ankan, True, Heather, Inoue, Michio, Findlay, Andrew R., Laing, Nigel, Olivé, Montse, Ravenscroft, Gianina, Straub, Volker
Published in Acta neuropathologica (01.01.2023)
Published in Acta neuropathologica (01.01.2023)
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Journal Article
Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects
Beecroft, Sarah J., Ayala, Marcos, McGillivray, George, Nanda, Vikas, Agolini, Emanuele, Novelli, Antonio, Digilio, Maria C., Dotta, Andrea, Carrozzo, Rosalba, Clayton, Joshua, Gaffney, Lydia, McLean, Catriona A., Ng, Jessica, Laing, Nigel G., Matteson, Paul, Millonig, James, Ravenscroft, Gianina
Published in Human mutation (01.05.2021)
Published in Human mutation (01.05.2021)
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Journal Article
Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
Cortese, Andrea, Beecroft, Sarah J., Facchini, Stefano, Curro, Riccardo, Cabrera-Serrano, Macarena, Stevanovski, Igor, Chintalaphani, Sanjog R., Gamaarachchi, Hasindu, Weisburd, Ben, Folland, Chiara, Monahan, Gavin, Scriba, Carolin K., Dofash, Lein, Johari, Mridul, Grosz, Bianca R., Ellis, Melina, Fearnley, Liam G., Tankard, Rick, Read, Justin, Merve, Ashirwad, Dominik, Natalia, Vegezzi, Elisa, Schnekenberg, Ricardo P., Fernandez-Eulate, Gorka, Masingue, Marion, Giovannini, Diane, Delatycki, Martin B., Storey, Elsdon, Gardner, Mac, Amor, David J., Nicholson, Garth, Vucic, Steve, Henderson, Robert D., Robertson, Thomas, Dyke, Jason, Fabian, Vicki, Mastaglia, Frank, Davis, Mark R., Kennerson, Marina, Quinlivan, Ros, Hammans, Simon, Tucci, Arianna, Bahlo, Melanie, McLean, Catriona A., Laing, Nigel G., Stojkovic, Tanya, Houlden, Henry, Hanna, Michael G., Deveson, Ira W., Lockhart, Paul J., Lamont, Phillipa J., Fahey, Michael C., Bugiardini, Enrico, Ravenscroft, Gianina
Published in Nature communications (17.10.2024)
Published in Nature communications (17.10.2024)
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Journal Article
A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry
Cortese, Andrea, Beecroft, Sarah J., Facchini, Stefano, Curro, Riccardo, Cabrera-Serrano, Macarena, Stevanovski, Igor, Chintalaphani, Sanjog R., Gamaarachchi, Hasindu, Weisburd, Ben, Folland, Chiara, Monahan, Gavin, Scriba, Carolin K., Dofash, Lein, Johari, Mridul, Grosz, Bianca R., Ellis, Melina, Fearnley, Liam G., Tankard, Rick, Read, Justin, Merve, Ashirwad, Dominik, Natalia, Vegezzi, Elisa, Schnekenberg, Ricardo P., Fernandez-Eulate, Gorka, Masingue, Marion, Giovannini, Diane, Delatycki, Martin B., Storey, Elsdon, Gardner, Mac, Amor, David J., Nicholson, Garth, Vucic, Steve, Henderson, Robert D., Robertson, Thomas, Dyke, Jason, Fabian, Vicki, Mastaglia, Frank, Davis, Mark R., Kennerson, Marina, Quinlivan, Ros, Hammans, Simon, Tucci, Arianna, Bahlo, Melanie, McLean, Catriona A., Laing, Nigel G., Stojkovic, Tanya, Houlden, Henry, Hanna, Michael G., Deveson, Ira W., Lockhart, Paul J., Lamont, Phillipa J., Fahey, Michael C., Bugiardini, Enrico, Ravenscroft, Gianina
Published in Nature communications (27.07.2024)
Published in Nature communications (27.07.2024)
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Journal Article
Cylindrical spirals in two families: Clinical and genetic investigations
Beecroft, Sarah J, Olive, Montse, Quereda, Lidia Gonzalez, Gallano, Pia, Ojanguren, Isabel, McLean, Catriona, McCombe, Pamela, Laing, Nigel G, Ravenscroft, Gianina
Published in Neuromuscular disorders : NMD (01.02.2020)
Published in Neuromuscular disorders : NMD (01.02.2020)
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Journal Article
Expanding the phenotypic spectrum associated with mutations of DYNC1H1
Beecroft, Sarah J, McLean, Catriona A, Delatycki, Martin B, Koshy, Kurian, Yiu, Eppie, Haliloglu, Goknur, Orhan, Diclehan, Lamont, Phillipa J, Davis, Mark R, Laing, Nigel G, Ravenscroft, Gianina
Published in Neuromuscular disorders : NMD (01.07.2017)
Published in Neuromuscular disorders : NMD (01.07.2017)
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Journal Article
Hecatomb: an integrated software platform for viral metagenomics
Roach, Michael J, Beecroft, Sarah J, Mihindukulasuriya, Kathie A, Wang, Leran, Paredes, Anne, Cárdenas, Luis Alberto Chica, Henry-Cocks, Kara, Lima, Lais Farias Oliveira, Dinsdale, Elizabeth A, Edwards, Robert A, Handley, Scott A
Published in Gigascience (04.06.2024)
Published in Gigascience (04.06.2024)
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Journal Article
The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders
Beecroft, Sarah J., Lamont, Phillipa J., Edwards, Samantha, Goullée, Hayley, Davis, Mark R., Laing, Nigel G., Ravenscroft, Gianina
Published in Molecular diagnosis & therapy (01.12.2020)
Published in Molecular diagnosis & therapy (01.12.2020)
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Journal Article
Recessive MYH7-related myopathy in two families
Beecroft, Sarah J., van de Locht, Martijn, de Winter, Josine M., Ottenheijm, Coen A., Sewry, Caroline A., Mohammed, Shehla, Ryan, Monique M., Woodcock, Ian R., Sanders, Lauren, Gooding, Rebecca, Davis, Mark R., Oates, Emily C., Laing, Nigel G., Ravenscroft, Gianina, McLean, Catriona A., Jungbluth, Heinz
Published in Neuromuscular disorders : NMD (01.06.2019)
Published in Neuromuscular disorders : NMD (01.06.2019)
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Journal Article
Cerebellar ataxia, neuropathy, vestibular areflexia syndrome due to RFC1 repeat expansion
Cortese, Andrea, Tozza, Stefano, Yau, Wai Yan, Rossi, Salvatore, Beecroft, Sarah J, Jaunmuktane, Zane, Dyer, Zoe, Ravenscroft, Gianina, Lamont, Phillipa J, Mossman, Stuart, Chancellor, Andrew, Maisonobe, Thierry, Pereon, Yann, Cauquil, Cecile, Colnaghi, Silvia, Mallucci, Giulia, Curro, Riccardo, Tomaselli, Pedro J, Thomas-Black, Gilbert, Sullivan, Roisin, Efthymiou, Stephanie, Rossor, Alexander M, Laurá, Matilde, Pipis, Menelaos, Horga, Alejandro, Polke, James, Kaski, Diego, Horvath, Rita, Chinnery, Patrick F, Marques, Wilson, Tassorelli, Cristina, Devigili, Grazia, Leonardis, Lea, Wood, Nick W, Bronstein, Adolfo, Giunti, Paola, Züchner, Stephan, Stojkovic, Tanya, Laing, Nigel, Roxburgh, Richard H, Houlden, Henry, Reilly, Mary M
Published in Brain (London, England : 1878) (01.02.2020)
Published in Brain (London, England : 1878) (01.02.2020)
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Journal Article
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease
Currò, Riccardo, Dominik, Natalia, Facchini, Stefano, Vegezzi, Elisa, Sullivan, Roisin, Galassi Deforie, Valentina, Fernández-Eulate, Gorka, Traschütz, Andreas, Rossi, Salvatore, Garibaldi, Matteo, Kwarciany, Mariusz, Taroni, Franco, Brusco, Alfredo, Good, Jean-Marc, Cavalcanti, Francesca, Hammans, Simon, Ravenscroft, Gianina, Roxburgh, Richard H, Parolin Schnekenberg, Ricardo, Rugginini, Bianca, Abati, Elena, Manini, Arianna, Quartesan, Ilaria, Ghia, Arianna, Lòpez de Munaìn, Adolfo, Manganelli, Fiore, Kennerson, Marina, Santorelli, Filippo Maria, Infante, Jon, Marques, Wilson, Jokela, Manu, Murphy, Sinéad M, Mandich, Paola, Fabrizi, Gian Maria, Briani, Chiara, Gosal, David, Pareyson, Davide, Ferrari, Alberto, Prados, Ferran, Yousry, Tarek, Khurana, Vikram, Kuo, Sheng-Han, Miller, James, Troakes, Claire, Jaunmuktane, Zane, Giunti, Paola, Hartmann, Annette, Basak, Nazli, Synofzik, Matthis, Stojkovic, Tanya, Hadjivassiliou, Marios, Reilly, Mary M, Houlden, Henry, Cortese, Andrea
Published in Brain (London, England : 1878) (03.05.2024)
Published in Brain (London, England : 1878) (03.05.2024)
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Journal Article
Koverage: Read-coverage analysis for massive (meta)genomics datasets
Roach, Michael J., Hart, Bradley J., Beecroft, Sarah J., Papudeshi, Bhavya, Inglis, Laura K., Grigson, Susanna R., Mallawaarachchi, Vijini, Bouras, George, Edwards, Robert A.
Published in Journal of open source software (27.02.2024)
Published in Journal of open source software (27.02.2024)
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Journal Article
STRling: a k-mer counting approach that detects short tandem repeat expansions at known and novel loci
Dashnow, Harriet, Pedersen, Brent S, Hiatt, Laurel, Brown, Joe, Beecroft, Sarah J, Ravenscroft, Gianina, Lacroix, Amy J, Lamont, Phillipa, Roxburgh, Richard H, Rodrigues, Miriam J, Davis, Mark, Mefford, Heather C, Laing, Nigel G, Quinlan, Aaron R
Published in bioRxiv (20.11.2021)
Published in bioRxiv (20.11.2021)
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