Screening chromosome ends for learning disability : Small chromosomal rearrangements may be behind idiopathic learning disability

Tekijä Knight, Samantha J L, Flint, Jonathan
Julkaistu 2000

Using Genomic Information to Guide Ibrutinib Treatment Decisions in Chronic Lymphocytic Leukaemia: A Cost-Effectiveness Analysis

Tekijä Buchanan, James, Wordsworth, Sarah, Clifford, Ruth, Robbe, Pauline, Taylor, Jenny C., Schuh, Anna, Knight, Samantha J. L.
Julkaisussa Pharmacoeconomics (2017)

Activation of an exonic splice‐donor site in exon 30 of CDK5RAP2 in a patient with severe microcephaly and pigmentary abnormalities

Tekijä Pagnamenta, Alistair T., Howard, Malcolm F., Knight, Samantha J. L., Keays, David A., Quaghebeur, Gerardine, Taylor, Jenny C., Kini, Usha
Julkaisussa Clin Case Rep (2016)

Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom

Tekijä Wordsworth, Sarah, Buchanan, James, Regan, Regina, Davison, Val, Smith, Kim, Dyer, Sara, Campbell, Carolyn, Blair, Edward, Maher, Eddy, Taylor, Jenny, Knight, Samantha J. L.
Julkaistu 2007

Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder

Tekijä Newbury, Dianne F, Mari, Francesca, Sadighi Akha, Elham, MacDermot, Kay D, Canitano, Roberto, Monaco, Anthony P, Taylor, Jenny C, Renieri, Alessandra, Fisher, Simon E, Knight, Samantha J L
Julkaistu 2013

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis

Tekijä 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
Julkaisussa Hum Mol Genet (2015)

Prevalence and complications of single gene and chromosomal disorders in craniosynostosis

Tekijä 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.
Julkaistu 2010

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma

Tekijä Winter, Helen, Kaisaki, Pamela J., Harvey, Joe, Giacopuzzi, Edoardo, Ferla, Matteo P., Pentony, Melissa M., Knight, Samantha J.L., Sharma, Ricky A., Taylor, Jenny C., McCullagh, James S.O.
Julkaisussa Cancers (Basel) (2019)

Genomic Imbalances Are Confined to Non-Proliferating Cells in Paediatric Patients with Acute Myeloid Leukaemia and a Normal or Incomplete Karyotype

Tekijä 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
Julkaistu 2011

Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma

Tekijä 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
Julkaisussa Sci Rep (2021)

Molecular and clinical delineation of the 17q22 microdeletion phenotype

Tekijä Laurell, Tobias, Lundin, Johanna, Anderlid, Britt-Marie, Gorski, Jerome L, Grigelioniene, Giedre, Knight, Samantha J L, Krepischi, Ana C V, Nordenskjöld, Agneta, Price, Susan M, Rosenberg, Carla, Turnpenny, Peter D, Vianna-Morgante, Angela M, Nordgren, Ann
Julkaistu 2013

An Optimized Set of Human Telomere Clones for Studying Telomere Integrity and Architecture

Tekijä Knight, Samantha J. L., Lese, Christa M., Precht, Kathrin S., Kuc, Julie, Ning, Yi, Lucas, Sarah, Regan, Regina, Brenan, Mary, Nicod, Alison, Lawrie, N. Martin, Cardy, Donald L. N., Nguyen, Huy, Hudson, Thomas J., Riethman, Harold C., Ledbetter, David H., Flint, Jonathan
Julkaistu 2000

SW-ARRAY: a dynamic programming solution for the identification of copy-number changes in genomic DNA using array comparative genome hybridization data

Tekijä Price, Thomas S., Regan, Regina, Mott, Richard, Hedman, Åsa, Honey, Ben, Daniels, Rachael J., Smith, Lee, Greenfield, Andy, Tiganescu, Ana, Buckle, Veronica, Ventress, Nicki, Ayyub, Helena, Salhan, Anita, Pedraza-Diaz, Susana, Broxholme, John, Ragoussis, Jiannis, Higgs, Douglas R., Flint, Jonathan, Knight, Samantha J. L.
Julkaistu 2005

De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder

Tekijä Babbs, Christian, Lloyd, Deborah, Pagnamenta, Alistair T, Twigg, Stephen R F, Green, Joanne, McGowan, Simon J, Mirza, Ghazala, Naples, Rebecca, Sharma, Vikram P, Volpi, Emanuela V, Buckle, Veronica J, Wall, Steven A, Knight, Samantha J L, Parr, Jeremy R, Wilkie, Andrew O M
Julkaistu 2014

The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom

Tekijä Schwarze, Katharina, Buchanan, James, Fermont, Jilles M., Dreau, Helene, Tilley, Mark W., Taylor, John M., Antoniou, Pavlos, Knight, Samantha J. L., Camps, Carme, Pentony, Melissa M., Kvikstad, Erika M., Harris, Steve, Popitsch, Niko, Pagnamenta, Alistair T., Schuh, Anna, Taylor, Jenny C., Wordsworth, Sarah
Julkaisussa Genet Med (2019)

Genomic and transcriptomic correlates of Richter transformation in chronic lymphocytic leukemia

Tekijä 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
Julkaisussa Blood (2021)

Mutations in Multidomain Protein MEGF8 Identify a Carpenter Syndrome Subtype Associated with Defective Lateralization

Tekijä Twigg, Stephen R.F., Lloyd, Deborah, Jenkins, Dagan, Elçioglu, Nursel E., Cooper, Christopher D.O., Al-Sannaa, Nouriya, Annagür, Ali, Gillessen-Kaesbach, Gabriele, Hüning, Irina, Knight, Samantha J.L., Goodship, Judith A., Keavney, Bernard D., Beales, Philip L., Gileadi, Opher, McGowan, Simon J., Wilkie, Andrew O.M.
Julkaistu 2012

Combination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Lef...

Tekijä Hastings, Robert, de Villiers, Carin P., Hooper, Charlotte, Ormondroyd, Liz, Pagnamenta, Alistair, Lise, Stefano, Salatino, Silvia, Knight, Samantha J.L., Taylor, Jenny C., Thomson, Kate L., Arnold, Linda, Chatziefthimiou, Spyros D., Konarev, Petr V., Wilmanns, Matthias, Ehler, Elisabeth, Ghisleni, Andrea, Gautel, Mathias, Blair, Edward, Watkins, Hugh, Gehmlich, Katja
Julkaisussa Circ Cardiovasc Genet (2016)

Mutations in PGAP3 Impair GPI-Anchor Maturation, Causing a Subtype of Hyperphosphatasia with Mental Retardation

Tekijä 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.
Julkaistu 2014

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

Tekijä Ilkovski, Biljana, Pagnamenta, Alistair T., O'Grady, Gina L., Kinoshita, Taroh, Howard, Malcolm F., Lek, Monkol, Thomas, Brett, Turner, Anne, Christodoulou, John, Sillence, David, Knight, Samantha J.L., Popitsch, Niko, Keays, David A., Anzilotti, Consuelo, Goriely, Anne, Waddell, Leigh B., Brilot, Fabienne, North, Kathryn N., Kanzawa, Noriyuki, Macarthur, Daniel G., Taylor, Jenny C., Kini, Usha, Murakami, Yoshiko, Clarke, Nigel F.
Julkaisussa Hum Mol Genet (2015)