Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B
Méhes, Károly, Shannon, Nora, FitzPatrick, David, Reid, Sarah, Douglas, Jenny, Firth, Helen, Plaja, Alberto, Robin, Nathanial, Irrthum, Alexandre, Nash, Richard, Tolmie, John, Kidd, Alexa, Swansbury, John, Coleman, Kim, Hanks, Sandra, Rahman, Nazneen
Published in Nature genetics (01.11.2004)
Published in Nature genetics (01.11.2004)
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A cohort of 17 patients with kyphoscoliotic Ehlers–Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history
Giunta, Cecilia, Baumann, Matthias, Fauth, Christine, Lindert, Uschi, Abdalla, Ebtesam M., Brady, Angela F., Collins, James, Dastgir, Jahannaz, Donkervoort, Sandra, Ghali, Neeti, Johnson, Diana S., Kariminejad, Ariana, Koch, Johannes, Kraenzlin, Marius, Lahiri, Nayana, Lozic, Bernarda, Manzur, Adnan Y., Morton, Jenny E.V., Pilch, Jacek, Pollitt, Rebecca C., Schreiber, Gudrun, Shannon, Nora L., Sobey, Glenda, Vandersteen, Anthony, van Dijk, Fleur S., Witsch-Baumgartner, Martina, Zschocke, Johannes, Pope, F. Michael, Bönnemann, Carsten G., Rohrbach, Marianne
Published in Genetics in medicine (01.01.2018)
Published in Genetics in medicine (01.01.2018)
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Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data
Hardcastle, Amy, Berry, Aliska M., Campbell, Ian M., Zhao, Xiaonan, Liu, Pengfei, Gerard, Amanda E., Rosenfeld, Jill A., Sisoudiya, Saumya D., Hernandez‐Garcia, Andres, Loddo, Sara, Di Tommaso, Silvia, Novelli, Antonio, Dentici, Maria L., Capolino, Rossella, Digilio, Maria C., Graziani, Ludovico, Rustad, Cecilie F., Neas, Katherine, Ferrero, Giovanni B., Brusco, Alfredo, Di Gregorio, Eleonora, Wellesley, Diana, Beneteau, Claire, Joubert, Madeleine, Van Den Bogaert, Kris, Boogaerts, Anneleen, McMullan, Dominic J., Dean, John, Giuffrida, Maria G., Bernardini, Laura, Varghese, Vinod, Shannon, Nora L., Harrison, Rachel E., Lam, Wayne W. K., McKee, Shane, Turnpenny, Peter D., Cole, Trevor, Morton, Jenny, Eason, Jacqueline, Jones, Marilyn C., Hall, Rebecca, Wright, Michael, Horridge, Karen, Shaw, Chad A., Chung, Wendy K., Scott, Daryl A.
Published in American journal of medical genetics. Part A (01.10.2022)
Published in American journal of medical genetics. Part A (01.10.2022)
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Evaluating the Feasibility of Screening Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Diseases: The REST Study
Abbasciano, Riccardo Giuseppe, Mariscalco, Giovanni, Barwell, Julian, Owens, Gareth, Zakkar, Mustafa, Joel-David, Lathishia, Pathak, Suraj, Adebayo, Adewale, Shannon, Nora, Haines, Rebecca Louise, Aujla, Hardeep, Eagle-Hemming, Bryony, Kumar, Tracy, Lai, Florence, Wozniak, Marcin, Murphy, Gavin
Published in Journal of the American Heart Association (19.04.2022)
Published in Journal of the American Heart Association (19.04.2022)
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Journal Article
Nicolaides-Baraitser syndrome: Delineation of the phenotype
Sousa, Sérgio B., Abdul-Rahman, Omar A., Bottani, Armand, Cormier-Daire, Valérie, Fryer, Alan, Gillessen-Kaesbach, Gabriele, Horn, Denise, Josifova, Dragana, Kuechler, Alma, Lees, Melissa, MacDermot, Kay, Magee, Alex, Morice-Picard, Fanny, Rosser, Elizabeth, Sarkar, Ajoy, Shannon, Nora, Stolte-Dijkstra, Irene, Verloes, Alain, Wakeling, Emma, Wilson, Louise, Hennekam, Raoul C.M.
Published in American journal of medical genetics. Part A (01.08.2009)
Published in American journal of medical genetics. Part A (01.08.2009)
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Microcephaly-lymphoedema-chorioretinal dysplasia: three cases to delineate the facial phenotype and review of the literature
Vasudevan, Pradeep C, Garcia-Minaur, Sixto, Botella, Maria Pilar, Perez-Aytes, Antonio, Shannon, Nora L, Quarrell, Oliver W J
Published in Clinical dysmorphology (01.07.2005)
Published in Clinical dysmorphology (01.07.2005)
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Journal Article
Deaf College Students' Reading Comprehension and Strategy Use
Kelly, Ronald R., Albertini, John A., Shannon, Nora B.
Published in American annals of the deaf (Washington, D.C. 1886) (01.12.2001)
Published in American annals of the deaf (Washington, D.C. 1886) (01.12.2001)
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Journal Article
Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes
Jackson, Adam, Ward, Heather, Bromley, Rebecca Louise, Deshpande, Charulata, Vasudevan, Pradeep, Scurr, Ingrid, Dean, John, Shannon, Nora, Berg, Jonathon, Holder, Susan, Baralle, Diana, Clayton-Smith, Jill
Published in Archives of disease in childhood (01.04.2020)
Published in Archives of disease in childhood (01.04.2020)
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Journal Article
Mainzer-Saldino Syndrome Is a Ciliopathy Caused by IFT140 Mutations
Perrault, Isabelle, Saunier, Sophie, Hanein, Sylvain, Filhol, Emilie, Bizet, Albane A., Collins, Felicity, Salih, Mustafa A.M., Gerber, Sylvie, Delphin, Nathalie, Bigot, Karine, Orssaud, Christophe, Silva, Eduardo, Baudouin, Véronique, Oud, Machteld M., Shannon, Nora, Le Merrer, Martine, Roche, Olivier, Pietrement, Christine, Goumid, Jamal, Baumann, Clarisse, Bole-Feysot, Christine, Nitschke, Patrick, Zahrate, Mohammed, Beales, Philip, Arts, Heleen H., Munnich, Arnold, Kaplan, Josseline, Antignac, Corinne, Cormier-Daire, Valérie, Rozet, Jean-Michel
Published in American journal of human genetics (04.05.2012)
Published in American journal of human genetics (04.05.2012)
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Journal Article
Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencing
Stals, Karen L., Wakeling, Matthew, Baptista, Júlia, Caswell, Richard, Parrish, Andrew, Rankin, Julia, Tysoe, Carolyn, Jones, Garan, Gunning, Adam C., Lango Allen, Hana, Bradley, Lisa, Brady, Angela F., Carley, Helena, Carmichael, Jenny, Castle, Bruce, Cilliers, Deirdre, Cox, Helen, Deshpande, Charu, Dixit, Abhijit, Eason, Jacqueline, Elmslie, Frances, Fry, Andrew E., Fryer, Alan, Holder, Muriel, Homfray, Tessa, Kivuva, Emma, McKay, Victoria, Newbury‐Ecob, Ruth, Parker, Michael, Savarirayan, Ravi, Searle, Claire, Shannon, Nora, Shears, Deborah, Smithson, Sarah, Thomas, Ellen, Turnpenny, Peter D., Varghese, Vinod, Vasudevan, Pradeep, Wakeling, Emma, Baple, Emma L., Ellard, Sian
Published in Prenatal diagnosis (01.01.2018)
Published in Prenatal diagnosis (01.01.2018)
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Journal Article
Mutations in CEP57 cause mosaic variegated aneuploidy syndrome
Snape, Katie, Hanks, Sandra, Ruark, Elise, Barros-Núñez, Patricio, Elliott, Anna, Murray, Anne, Lane, Andrew H, Shannon, Nora, Callier, Patrick, Chitayat, David, Clayton-Smith, Jill, FitzPatrick, David R, Gisselsson, David, Jacquemont, Sebastien, Asakura-Hay, Keiko, Micale, Mark A, Tolmie, John, Turnpenny, Peter D, Wright, Michael, Douglas, Jenny, Rahman, Nazneen
Published in Nature genetics (01.06.2011)
Published in Nature genetics (01.06.2011)
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Journal Article
Pathogenic variants causing ABL1 malformation syndrome cluster in a myristoyl-binding pocket and increase tyrosine kinase activity
Blakes, Alexander J M, Gaul, Emily, Lam, Wayne, Shannon, Nora, Knapp, Karen M, Bicknell, Louise S, Jackson, Meremaihi R, Wade, Emma M, Robertson, Stephen, White, Susan M, Heller, Raoul, Chase, Andrew, Baralle, Diana, Douglas, Andrew G L
Published in European journal of human genetics : EJHG (01.04.2021)
Published in European journal of human genetics : EJHG (01.04.2021)
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Journal Article
Promoter Deletion Confirms That MYBPC3 Haploinsufficiency Is Sufficient to Cause Hypertrophic Cardiomyopathy in Humans
Hayesmoore, Jesse B G, Bowman, Michael, Shannon, Nora, Blair, Edward, Watkins, Hugh, Thomson, Kate
Published in Circulation. Genomic and precision medicine (01.02.2024)
Published in Circulation. Genomic and precision medicine (01.02.2024)
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WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome
DeSanto, Cori, D'Aco, Kristin, Araujo, Gabriel C, Shannon, Nora, Study, DDD, Vernon, Hilary, Rahrig, April, Monaghan, Kristin G, Niu, Zhiyv, Vitazka, Patrik, Dodd, Jonathan, Tang, Sha, Manwaring, Linda, Martir-Negron, Arelis, Schnur, Rhonda E, Juusola, Jane, Schroeder, Audrey, Pan, Vivian, Helbig, Katherine L, Friedman, Bethany, Shinawi, Marwan
Published in Journal of medical genetics (01.11.2015)
Published in Journal of medical genetics (01.11.2015)
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Journal Article
Phenotype and genotype in Nicolaides-Baraitser syndrome
Sousa, Sérgio B., Hennekam, Raoul C.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2014)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.09.2014)
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Journal Article
Report of a Delphi exercise to inform the design of a research programme on screening for thoracic aortic disease
Abbasciano, R G, Barwell, J, Sayers, R, Bown, M, Milewicz, D, Cooper, G, Mariscalco, G, Wheeldon, N, Fowler, C, Owens, G, Murphy, G J
Published in Current controlled trials in cardiovascular medicine (16.07.2020)
Published in Current controlled trials in cardiovascular medicine (16.07.2020)
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Journal Article
Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene
Perrault, I, Saunier, S, Hanein, S, Filhol, E, Bizet, A, Collins, F, Salih, M, Silva, E, Baudouin, V, Oud, M, Shannon, N, Le Merrer, M, Pietrement, C, Beales, P, Arts, H, Munnich, A, Kaplan, J, Antignac, C, Cormier Daire, V, Rozet, JM
Published in Cilia (16.11.2012)
Published in Cilia (16.11.2012)
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