Biallelic mutations of TBC1D24 in exercise‐induced paroxysmal dystonia
Steel, Dora, Heim, Jennifer, Kruer, Michael C., Sanchis‐Juan, Alba, Raymond, Lucy F., Eunson, Paul, Kurian, Manju A.
Published in Movement disorders (01.02.2020)
Published in Movement disorders (01.02.2020)
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Journal Article
Myoclonus‐dystonia caused by GNB1 mutation responsive to deep brain stimulation
Jones, Hannah F., Morales‐Briceño, Hugo, Barwick, Katy, Lewis, Jennifer, Sanchis‐Juan, Alba, Raymond, F. Lucy, Stewart, Kirsty, Waugh, Mary‐Clare, Mahant, Neil, Kurian, Manju A., Dale, Russell C., Mohammad, Shekeeb S.
Published in Movement disorders (01.07.2019)
Published in Movement disorders (01.07.2019)
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Journal Article
Multiple GYPB gene deletions associated with the U− phenotype in those of African ancestry
Lane, William J., Gleadall, Nicholas S., Aeschlimann, Judith, Vege, Sunitha, Sanchis‐Juan, Alba, Stephens, Jonathan, Sullivan, Jensyn Cone, Mah, Helen H., Aguad, Maria, Smeland‐Wagman, Robin, Lebo, Matthew S., Vijay Kumar, Prathik K., Kaufman, Richard M., Green, Robert C., Ouwehand, Willem H., Westhoff, Connie M.
Published in Transfusion (Philadelphia, Pa.) (01.06.2020)
Published in Transfusion (Philadelphia, Pa.) (01.06.2020)
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Journal Article
Structural analysis of pathogenic missense mutations in GABRA2 and identification of a novel de novo variant in the desensitization gate
Sanchis‐Juan, Alba, Hasenahuer, Marcia A., Baker, James A., McTague, Amy, Barwick, Katy, Kurian, Manju A., Duarte, Sofia T., Carss, Keren J., Thornton, Janet, Raymond, F. Lucy
Published in Molecular genetics & genomic medicine (01.07.2020)
Published in Molecular genetics & genomic medicine (01.07.2020)
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Journal Article
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions
Dolzhenko, Egor, Deshpande, Viraj, Schlesinger, Felix, Krusche, Peter, Petrovski, Roman, Chen, Sai, Emig-Agius, Dorothea, Gross, Andrew, Narzisi, Giuseppe, Bowman, Brett, Scheffler, Konrad, van Vugt, Joke J F A, French, Courtney, Sanchis-Juan, Alba, Ibáñez, Kristina, Tucci, Arianna, Lajoie, Bryan R, Veldink, Jan H, Raymond, F Lucy, Taft, Ryan J, Bentley, David R, Eberle, Michael A
Published in Bioinformatics (01.11.2019)
Published in Bioinformatics (01.11.2019)
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Journal Article
Abundancy of polymorphic CGG repeats in the human genome suggest a broad involvement in neurological disease
Annear, Dale J., Vandeweyer, Geert, Elinck, Ellen, Sanchis-Juan, Alba, French, Courtney E., Raymond, Lucy, Kooy, R. Frank
Published in Scientific reports (28.01.2021)
Published in Scientific reports (28.01.2021)
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Journal Article
Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
Wei, Wei, Pagnamenta, Alistair T., Gleadall, Nicholas, Sanchis-Juan, Alba, Stephens, Jonathan, Broxholme, John, Tuna, Salih, Odhams, Christopher A., Fratter, Carl, Turro, Ernest, Caulfield, Mark J., Taylor, Jenny C., Rahman, Shamima, Chinnery, Patrick F.
Published in Nature communications (08.04.2020)
Published in Nature communications (08.04.2020)
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Journal Article
Complex structural variants in Mendelian disorders: identification and breakpoint resolution using short- and long-read genome sequencing
Sanchis-Juan, Alba, Stephens, Jonathan, French, Courtney E, Gleadall, Nicholas, Mégy, Karyn, Penkett, Christopher, Shamardina, Olga, Stirrups, Kathleen, Delon, Isabelle, Dewhurst, Eleanor, Dolling, Helen, Erwood, Marie, Grozeva, Detelina, Stefanucci, Luca, Arno, Gavin, Webster, Andrew R, Cole, Trevor, Austin, Topun, Branco, Ricardo Garcia, Ouwehand, Willem H, Raymond, F Lucy, Carss, Keren J
Published in Genome medicine (07.12.2018)
Published in Genome medicine (07.12.2018)
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Journal Article
A cell type-aware framework for nominating non-coding variants in Mendelian regulatory disorders
Lee, Arthur S., Ayers, Lauren J., Kosicki, Michael, Chan, Wai-Man, Fozo, Lydia N., Pratt, Brandon M., Collins, Thomas E., Zhao, Boxun, Rose, Matthew F., Sanchis-Juan, Alba, Fu, Jack M., Wong, Isaac, Zhao, Xuefang, Tenney, Alan P., Lee, Cassia, Laricchia, Kristen M., Barry, Brenda J., Bradford, Victoria R., Jurgens, Julie A., England, Eleina M., Lek, Monkol, MacArthur, Daniel G., Lee, Eunjung Alice, Talkowski, Michael E., Brand, Harrison, Pennacchio, Len A., Engle, Elizabeth C.
Published in Nature communications (27.09.2024)
Published in Nature communications (27.09.2024)
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Journal Article
Exploring non-coding variants and evaluation of antisense oligonucleotides for splicing redirection in Usher syndrome
García-Bohórquez, Belén, Barberán-Martínez, Pilar, Aller, Elena, Jaijo, Teresa, Mínguez, Pablo, Rodilla, Cristina, Fernández-Caballero, Lidia, Blanco-Kelly, Fiona, Ayuso, Carmen, Sanchis-Juan, Alba, Broekman, Sanne, de Vrieze, Erik, van Wijk, Erwin, García-García, Gema, Millán, José M.
Published in Molecular therapy. Nucleic acids (01.12.2024)
Published in Molecular therapy. Nucleic acids (01.12.2024)
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Journal Article
Improvement of large copy number variant detection by whole genome nanopore sequencing
Cuenca-Guardiola, Javier, de la Morena-Barrio, Belén, García, Juan L., Sanchis-Juan, Alba, Corral, Javier, Fernández-Breis, Jesualdo T.
Published in Journal of advanced research (01.08.2023)
Published in Journal of advanced research (01.08.2023)
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Journal Article
P240: Back to basics: Diagnosis of Lesch-Nyhan syndrome in a female via karyotype analysis
Biddle, Joseph, Campbell, Teresa, Sanchis-Juan, Alba, Lemire, Gabrielle, Rodan, Lance, O'Leary, Melanie, Austin-Tse, Christina, O'Donnell-Luria, Anne, Sadler, Laurie
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
Author Correction: Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans
Wei, Wei, Pagnamenta, Alistair T., Gleadall, Nicholas, Sanchis-Juan, Alba, Stephens, Jonathan, Broxholme, John, Tuna, Salih, Odhams, Christopher A., Fratter, Carl, Turro, Ernest, Caulfield, Mark J., Taylor, Jenny C., Rahman, Shamima, Chinnery, Patrick F.
Published in Nature communications (22.07.2020)
Published in Nature communications (22.07.2020)
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Journal Article
Rare Genetic Variation in 135 Families With Family History Suggestive of X-Linked Intellectual Disability
Sanchis-Juan, Alba, Bitsara, Christina, Low, Kay Yi, Carss, Keren J, French, Courtney E, Spasic-Boskovic, Olivera, Jarvis, Joanna, Field, Michael, Raymond, F Lucy, Grozeva, Detelina
Published in Frontiers in genetics (26.06.2019)
Published in Frontiers in genetics (26.06.2019)
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Journal Article
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood
French, Courtney E., Dolling, Helen, Mégy, Karyn, Sanchis-Juan, Alba, Kumar, Ajay, Delon, Isabelle, Wakeling, Matthew, Mallin, Lucy, Agrawal, Shruti, Austin, Topun, Walston, Florence, Park, Soo-Mi, Parker, Alasdair, Piyasena, Chinthika, Bradbury, Kimberley, Ellard, Sian, Rowitch, David H., Raymond, F. Lucy
Published in HGG advances (14.07.2022)
Published in HGG advances (14.07.2022)
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Journal Article
O11: An atlas of 1.2M structural variants across global populations in the Genome Aggregation Database (gnomAD)
Brand, Harrison, Zhao, Xuefang, Fu, Jack, Collins, Ryan, Wong, Isaac, Liao, Cal, Wang, Lily, Baxter, Samantha, Solomonson, Matthew, Darnowsky, Philip, Chapman, Sinéad, Stevens, Christine, Cusick, Caroline, Sanchis-Juan, Alba, Walker, Mark, Kurtas, Nehir, Chao, Katherine, Gabriel, Stacey, Banks, Eric, O’Donnell-Luria, Anne, MacArthur, Daniel, Rehm, Heidi, Neale, Benjamin, Daly, Mark, Samocha, Kaitlin, Karczewski, Konrad, Talkowski, Michael
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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A genomic mutational constraint map using variation in 76,156 human genomes
Chen, Siwei, Francioli, Laurent C., Goodrich, Julia K., Collins, Ryan L., Kanai, Masahiro, Wang, Qingbo, Alföldi, Jessica, Watts, Nicholas A., Vittal, Christopher, Gauthier, Laura D., Poterba, Timothy, Wilson, Michael W., Tarasova, Yekaterina, Phu, William, Grant, Riley, Yohannes, Mary T., Koenig, Zan, Farjoun, Yossi, Banks, Eric, Donnelly, Stacey, Gabriel, Stacey, Gupta, Namrata, Ferriera, Steven, Tolonen, Charlotte, Novod, Sam, Bergelson, Louis, Roazen, David, Ruano-Rubio, Valentin, Covarrubias, Miguel, Llanwarne, Christopher, Petrillo, Nikelle, Wade, Gordon, Jeandet, Thibault, Munshi, Ruchi, Tibbetts, Kathleen, O’Donnell-Luria, Anne, Solomonson, Matthew, Seed, Cotton, Martin, Alicia R., Talkowski, Michael E., Rehm, Heidi L., Daly, Mark J., Tiao, Grace, Neale, Benjamin M., MacArthur, Daniel G., Karczewski, Konrad J.
Published in Nature (London) (04.01.2024)
Published in Nature (London) (04.01.2024)
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Journal Article
Non-Mendelian inheritance patterns and extreme deviation rates of CGG repeats in autism
Annear, Dale J, Vandeweyer, Geert, Sanchis-Juan, Alba, Raymond, F Lucy, Kooy, R Frank
Published in Genome research (01.11.2022)
Published in Genome research (01.11.2022)
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Journal Article
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
Stephens, Jonathan, Dewhurst, Eleanor, Malka, Samantha, Plagnol, Vincent, Rizzo, Roberta, Scott, Richard H., Henderson, Robert H.H., MacLaren, Robert E., Paterson, Joan, Aitman, Timothy, Ali, Sonia, Ambegaonkar, Gautum, Arno, Gavin, Astle, William, Attwood, Antony, Bennett, David, Bitner-Glindzicz, Maria, Bleda, Marta, Boggard, Harm, Carss, Keren, Clements-Brod, Naomi, DaCosta, Rosa, De Vries, Minka, Dewhurst, Eleanor, Drewe, Elizabeth, Egner, William, Erber, Wendy N., Everington, Tamara, Fletcher, Debra, Freson, Kathleen, Gale, Daniel, Ghali, Neeti, Ghurye, Rohit, Gräf, Stefan, Greene, Daniel, Grigoriadou, Sofia, Grozeva, Detelina, Hackett, Scott, Hadinnapola, Charaka, Hague, Rosie, Hammerton, Tracey, Heemskerk, Johan W.M., Holder, Muriel, Holder, Susan, Huissoon, Aarnoud, Hurst, Jane, Jolles, Stephen, Keeling, David, Kennedy, Fiona, Kiely, David, Lawrie, Allan, Lear, Sara, Lees, Melissa, Lentaigne, Claire, Lorenzo, Lorena, Mangles, Sarah, Mapeta, Rutendo, Masati, Larahmie, Mathias, Mary, Michaelides, Michel, Millar, Carolyn M., Moledina, Shahin, Moore, Anthony, Murng, Sai, Oksenhendler, Eric, Park, Soo-Mi, Patch, Chris, Paterson, Joan, Penkett, Christopher J., Pepke-Zaba, Joanna, Pollock, Val, Qasim, Waseem, Quinti, Isabella, Reid, Evan, Rondina, Matthew, Rosser, Elisabeth, Santra, Saikat, Sargur, Ravishankar, Savic, Sinisa, Scully, Marie, Sewell, Carrock, Smith, Kenneth, Southgate, Laura, Stauss, Hans, Stein, Penelope, Talks, Kate, Thomas, Ellen, Thrasher, Adrian, Tischkowitz, Marc, Titterton, Catherine, Turro, Ernest, von Ziegenweldt, Julie, Vonk Noordegraaf, Anton, Wakeling, Emma, Wanjiku, Ivy, Welch, Steve, Westbury, Sarah, Woods, Geoffrey, Yong, Patrick, Webster, Andrew R.
Published in American journal of human genetics (05.01.2017)
Published in American journal of human genetics (05.01.2017)
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Journal Article
Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children
French, Courtney E., Delon, Isabelle, Dolling, Helen, Sanchis-Juan, Alba, Shamardina, Olga, Mégy, Karyn, Abbs, Stephen, Austin, Topun, Bowdin, Sarah, Branco, Ricardo G., Firth, Helen, Rowitch, David H., Raymond, F. Lucy
Published in Intensive care medicine (01.05.2019)
Published in Intensive care medicine (01.05.2019)
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