Current Management of Pleuropulmonary Blastoma: A Surgical Perspective

por Knight, Samantha, Knight, Tristan, Khan, Amir, Murphy, Andrew J.
Publicado 2019

Malignant Peripheral Nerve Sheath Tumors—A Comprehensive Review of Pathophysiology, Diagnosis, and Multidisciplinary Management

por Knight, Samantha W. E., Knight, Tristan E., Santiago, Teresa, Murphy, Andrew J., Abdelhafeez, Abdelhafeez H.
Publicado 2022

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

por Buchanan, James, Wordsworth, Sarah, Clifford, Ruth, Robbe, Pauline, Taylor, Jenny C., Schuh, Anna, Knight, Samantha J. L.
Publicado 2017

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

por Pagnamenta, Alistair T., Howard, Malcolm F., Knight, Samantha J. L., Keays, David A., Quaghebeur, Gerardine, Taylor, Jenny C., Kini, Usha
Publicado 2016

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

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

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

por 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
Publicado 2013

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

por 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
Publicado 2015

Robust CRISPR/Cas9 Genome Editing of the HUDEP-2 Erythroid Precursor Line Using Plasmids and Single-Stranded Oligonucleotide Donors

por Moir-Meyer, Gemma, Cheong, Pak Leng, Olijnik, Aude-Anais, Brown, Jill, Knight, Samantha, King, Andrew, Kurita, Ryo, Nakamura, Yukio, Gibbons, Richard J., Higgs, Douglas R., Buckle, Veronica J., Babbs, Christian
Publicado 2018

Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma

por 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.
Publicado 2019

The autophagy protein Atg7 is essential for hematopoietic stem cell maintenance

por Mortensen, Monika, Soilleux, Elizabeth J., Djordjevic, Gordana, Tripp, Rebecca, Lutteropp, Michael, Sadighi-Akha, Elham, Stranks, Amanda J., Glanville, Julie, Knight, Samantha, W. Jacobsen, Sten-Eirik, Kranc, Kamil R., Simon, Anna Katharina
Publicado 2011

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

por 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
Publicado 2011

A Novel Nonsense CDK5RAP2 Mutation in a Somali Child With Primary Microcephaly and Sensorineural Hearing Loss

por 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 JL
Publicado 2012

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

por 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
Publicado 2021

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

por 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.
Publicado 2005

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

por 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
Publicado 2014

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

por 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
Publicado 2019

Acute GVHD, BK virus hemorrhagic cystitis and age are risk factors for transplant-associated thrombotic microangiopathy in adults

por Vasu, Sumithira, Bostic, Matthew, Zhao, Qiuhong, Sharma, Nidhi, Puto, Marcin, Knight, Samantha, Scott, Denise, Guzman, Rosalyn, Kromer, Meghan, Tackett, Karen, Lind, Kristin, Knill, Kathryn, Watson, Emily, Wall, Sarah, Saad, Ayman, Choe, Hannah, Larkin, Karilyn, Brammer, Jonathan, Jaglowski, Samantha, Penza, Sam, Davies, Stella M., Cataland, Spero
Publicado 2022

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...

por 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
Publicado 2016

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

por 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.
Publicado 2015

Identification of Intragenic Exon Deletions and Duplication of TCF12 by Whole Genome or Targeted Sequencing as a Cause of TCF12‐Related Craniosynostosis

por Goos, Jacqueline A.C., Fenwick, Aimee L., Swagemakers, Sigrid M.A., McGowan, Simon J., Knight, Samantha J.L., Twigg, Stephen R.F., Hoogeboom, A. Jeannette M., van Dooren, Marieke F., Magielsen, Frank J., Wall, Steven A., Mathijssen, Irene M.J., Wilkie, Andrew O.M., van der Spek, Peter J., van den Ouweland, Ans M.W.
Publicado 2016