Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome
Eichler, Evan E, Sharp, Andrew J, Hansen, Sierra, Selzer, Rebecca R, Cheng, Ze, Regan, Regina, Hurst, Jane A, Stewart, Helen, Price, Sue M, Blair, Edward, Hennekam, Raoul C, Fitzpatrick, Carrie A, Segraves, Rick, Richmond, Todd A, Guiver, Cheryl, Albertson, Donna G, Pinkel, Daniel, Eis, Peggy S, Schwartz, Stuart, Knight, Samantha J L
Published in Nature genetics (01.09.2006)
Published in Nature genetics (01.09.2006)
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Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma
Roberts, Hannah E., Lopopolo, Maria, Pagnamenta, Alistair T., Sharma, Eshita, Parkes, Duncan, Lonie, Lorne, Freeman, Colin, Knight, Samantha J. L., Lunter, Gerton, Dreau, Helene, Lockstone, Helen, Taylor, Jenny C., Schuh, Anna, Bowden, Rory, Buck, David
Published in Scientific reports (19.03.2021)
Published in Scientific reports (19.03.2021)
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Molecular evolution of a neurofibroma to malignant peripheral nerve sheath tumor (MPNST) in an NF1 patient: correlation between histopathological, clinical and molecular findings
Spurlock, Gill, Knight, Samantha J. L, Thomas, Nick, Kiehl, Tim-Rasmus, Guha, Abhijit, Upadhyaya, Meena
Published in Journal of cancer research and clinical oncology (01.12.2010)
Published in Journal of cancer research and clinical oncology (01.12.2010)
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A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism
de Vries, Bert B A, Koolen, David A, Vissers, Lisenka E L M, Pfundt, Rolph, de Leeuw, Nicole, Knight, Samantha JL, Regan, Regina, Kooy, R Frank, Reyniers, Edwin, Romano, Corrado, Fichera, Marco, Schinzel, Albert, Baumer, Alessandra, Anderlid, Britt-Marie, Schoumans, Jacqueline, Knoers, Nine V, van Kessel, Ad Geurts, Sistermans, Erik A, Veltman, Joris A, Brunner, Han G
Published in Nature genetics (01.09.2006)
Published in Nature genetics (01.09.2006)
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Genomic and transcriptomic correlates of Richter transformation in chronic lymphocytic leukemia
Klintman, Jenny, Appleby, Niamh, Stamatopoulos, Basile, Ridout, Katie, Eyre, Toby A., Robbe, Pauline, Pascua, Laura Lopez, Knight, Samantha J.L., Dreau, Helene, Cabes, Maite, Popitsch, Niko, Ehinger, Mats, Martín-Subero, Jose I., Campo, Elías, Månsson, Robert, Rossi, Davide, Taylor, Jenny C., Vavoulis, Dimitrios V., Schuh, Anna
Published in Blood (20.05.2021)
Published in Blood (20.05.2021)
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A 15q13.3 microdeletion segregating with autism
PAGNAMENTA, Alistair T, WING, Kirsty, RAGOUSSIS, Jiannis, BAILEY, Anthony J, MONACO, Anthony P, SADIGHI AKHA, Elham, KNIGHT, Samantha J. L, BÖLTE, Sven, SCHMÖTZER, Gabriele, DUKETIS, Eftichia, POUSTKA, Fritz, KLAUCK, Sabine M, POUSTKA, Annemarie
Published in European journal of human genetics : EJHG (01.05.2009)
Published in European journal of human genetics : EJHG (01.05.2009)
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Prevalence and complications of single-gene and chromosomal disorders in craniosynostosis
Wilkie, Andrew O M, Byren, Jo C, Hurst, Jane A, Jayamohan, Jayaratnam, Johnson, David, Knight, Samantha J L, Lester, Tracy, Richards, Peter G, Twigg, Stephen R F, Wall, Steven A
Published in Pediatrics (Evanston) (01.08.2010)
Published in Pediatrics (Evanston) (01.08.2010)
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Characterization of a recurrent 15q24 microdeletion syndrome
Sharp, Andrew J., Selzer, Rebecca R., Veltman, Joris A., Gimelli, Stefania, Gimelli, Giorgio, Striano, Pasquale, Coppola, Antonietta, Regan, Regina, Price, Sue M., Knoers, Nine V., Eis, Peggy S., Brunner, Han G., Hennekam, Raoul C., Knight, Samantha J.L., de Vries, Bert B.A., Zuffardi, Orsetta, Eichler, Evan E.
Published in Human molecular genetics (01.03.2007)
Published in Human molecular genetics (01.03.2007)
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A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss
Pagnamenta, Alistair T., Murray, Jennie E., Yoon, Grace, Akha, Elham Sadighi, Harrison, Victoria, Bicknell, Louise S., Ajilogba, Kaseem, Stewart, Helen, Kini, Usha, Taylor, Jenny C., Keays, David A., Jackson, Andrew P., Knight, Samantha J.L.
Published in American journal of medical genetics. Part A (01.10.2012)
Published in American journal of medical genetics. Part A (01.10.2012)
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Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant
Hannes, F D, Sharp, A J, Mefford, H C, de Ravel, T, Ruivenkamp, C A, Breuning, M H, Fryns, J-P, Devriendt, K, Van Buggenhout, G, Vogels, A, Stewart, H, Hennekam, R C, Cooper, G M, Regan, R, Knight, S J L, Eichler, E E, Vermeesch, J R
Published in Journal of medical genetics (01.04.2009)
Published in Journal of medical genetics (01.04.2009)
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A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures
Eichler, Evan E, Sharp, Andrew J, Mefford, Heather C, Li, Kelly, Baker, Carl, Skinner, Cindy, Stevenson, Roger E, Schroer, Richard J, Novara, Francesca, De Gregori, Manuela, Ciccone, Roberto, Broomer, Adam, Casuga, Iris, Wang, Yu, Xiao, Chunlin, Barbacioru, Catalin, Gimelli, Giorgio, Bernardina, Bernardo Dalla, Torniero, Claudia, Giorda, Roberto, Regan, Regina, Murday, Victoria, Mansour, Sahar, Fichera, Marco, Castiglia, Lucia, Failla, Pinella, Ventura, Mario, Jiang, Zhaoshi, Cooper, Gregory M, Knight, Samantha J L, Romano, Corrado, Zuffardi, Orsetta, Chen, Caifu, Schwartz, Charles E
Published in Nature genetics (01.03.2008)
Published in Nature genetics (01.03.2008)
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Genomic imbalances are confined to non-proliferating cells in paediatric patients with acute myeloid leukaemia and a normal or incomplete karyotype
Ballabio, Erica, Regan, Regina, Garimberti, Elisa, Harbott, Jochen, Bradtke, Jutta, Teigler-Schlegel, Andrea, Biondi, Andrea, Cazzaniga, Giovanni, Giudici, Giovanni, Wainscoat, James S, Boultwood, Jacqueline, Bridger, Joanna M, Knight, Samantha J L, Tosi, Sabrina
Published in PloS one (09.06.2011)
Published in PloS one (09.06.2011)
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Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis
Pagnamenta, Alistair T, Howard, Malcolm F, Wisniewski, Eva, Popitsch, Niko, Knight, Samantha J L, Keays, David A, Quaghebeur, Gerardine, Cox, Helen, Cox, Phillip, Balla, Tamas, Taylor, Jenny C, Kini, Usha
Published in Human molecular genetics (01.07.2015)
Published in Human molecular genetics (01.07.2015)
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Using Genomic Information to Guide Ibrutinib Treatment Decisions in Chronic Lymphocytic Leukaemia: A Cost-Effectiveness Analysis
Buchanan, James, Wordsworth, Sarah, Clifford, Ruth, Robbe, Pauline, Taylor, Jenny C., Schuh, Anna, Knight, Samantha J. L.
Published in PharmacoEconomics (01.08.2017)
Published in PharmacoEconomics (01.08.2017)
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Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation
Howard, Malcolm F., Murakami, Yoshiko, Pagnamenta, Alistair T., Daumer-Haas, Cornelia, Fischer, Björn, Hecht, Jochen, Keays, David A., Knight, Samantha J.L., Kölsch, Uwe, Krüger, Ulrike, Leiz, Steffen, Maeda, Yusuke, Mitchell, Daphne, Mundlos, Stefan, Phillips, John A., Robinson, Peter N., Kini, Usha, Taylor, Jenny C., Horn, Denise, Kinoshita, Taroh, Krawitz, Peter M.
Published in American journal of human genetics (06.02.2014)
Published in American journal of human genetics (06.02.2014)
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Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies
Pagnamenta, Alistair T, Lise, Stefano, Harrison, Victoria, Stewart, Helen, Jayawant, Sandeep, Quaghebeur, Gerardine, Deng, Alexander T, Murphy, Valerie Elizabeth, Sadighi Akha, Elham, Rimmer, Andy, Mathieson, Iain, Knight, Samantha J L, Kini, Usha, Taylor, Jenny C, Keays, David A
Published in Journal of human genetics (01.01.2012)
Published in Journal of human genetics (01.01.2012)
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Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization
TWIGG, Stephen R. F, LLOYD, Deborah, GOODSHIP, Judith A, KEAVNEY, Bernard D, BEALES, Philip L, GILEADI, Opher, MCGOWAN, Simon J, WILKIE, Andrew O. M, JENKINS, Dagan, ELCIOGLU, Nursel E, COOPER, Christopher D. O, AL-SANNAA, Nouriya, ANNAGÜR, Ali, GILLESSEN-KAESBACH, Gabriele, HÜNING, Irina, KNIGHT, Samantha J. L
Published in American journal of human genetics (02.11.2012)
Published in American journal of human genetics (02.11.2012)
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