Familial severe skeletal Class II malocclusion with gingival hyperplasia caused by a complex structural rearrangement at the KCNJ2-KCNJ16 locus

Authors: Maroofian, Reza, Pagnamenta, Alistair T., Navabazam, Alireza, Schwessinger, Ron, Roberts, Hannah E., Lopopolo, Maria, Dehghani, Mohammadreza, Vahidi Mehrjardi, Mohammad Yahya, Haerian, Alireza, Soltanianzadeh, Mojtaba, Noori Kooshki, Mohammad Hadi, Knight, Samantha J.L., Miller, Kerry A., McGowan, Simon J., Chatron, Nicolas, Timberlake, Andrew T., Melo, Uirá Souto, Mundlos, Stefan, Buck, David, Twigg, Stephen R.F., Taylor, Jenny C., Wilkie, Andrew O.M., Calpena, Eduardo

Source: In Human Genetics and Genomics Advances 10 October 2024 5(4)

Genomic and transcriptomic correlates of Richter transformation in chronic lymphocytic leukemia

Authors: 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 ^**

Source: In Blood 20 May 2021 137(20):2800-2816

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

Authors: 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

Source: In Genetics in Medicine January 2020 22(1):85-94

Clinical whole-genome sequencing from routine formalin-fixed, paraffin-embedded specimens: pilot study for the 100,000 Genomes Project

Authors: Robbe, Pauline, Popitsch, Niko, Knight, Samantha J.L., Antoniou, Pavlos, Becq, Jennifer, He, Miao, Kanapin, Alexander, Samsonova, Anastasia, Vavoulis, Dimitrios V., Ross, Mark T., Kingsbury, Zoya, Cabes, Maite, Ramos, Sara D.C., Page, Suzanne, Dreau, Helene, Ridout, Kate, Jones, Louise J., Tuff-Lacey, Alice, Henderson, Shirley, Mason, Joanne, Buffa, Francesca M., Verrill, Clare, Maldonado-Perez, David, Roxanis, Ioannis, Collantes, Elena, Browning, Lisa, Dhar, Sunanda, Damato, Stephen, Davies, Susan, Caulfield, Mark, Bentley, David R., Taylor, Jenny C., Turnbull, Clare, Schuh, Anna

Source: In Genetics in Medicine October 2018 20(10):1196-1205

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

Authors: Lenglet, Marion ^*, Robriquet, Florence ^*, Schwarz, Klaus, Camps, Carme, Couturier, Anne, Hoogewijs, David, Buffet, Alexandre, Knight, Samantha J.L., Gad, Sophie, Couvé, Sophie, Chesnel, Franck, Pacault, Mathilde, Lindenbaum, Pierre, Job, Sylvie, Dumont, Solenne, Besnard, Thomas, Cornec, Marine, Dreau, Helene, Pentony, Melissa, Kvikstad, Erika, Deveaux, Sophie, Burnichon, Nelly, Ferlicot, Sophie, Vilaine, Mathias, Mazzella, Jean-Michaël, Airaud, Fabrice, Garrec, Céline, Heidet, Laurence, Irtan, Sabine, Mantadakis, Elpis, Bouchireb, Karim, Debatin, Klaus-Michael, Redon, Richard, Bezieau, Stéphane, Bressac-de Paillerets, Brigitte, Teh, Bin Tean, Girodon, François, Randi, Maria-Luigia, Putti, Maria Caterina, Bours, Vincent, Van Wijk, Richard, Göthert, Joachim R., Kattamis, Antonis, Janin, Nicolas, Bento, Celeste, Taylor, Jenny C., Arlot-Bonnemains, Yannick, Richard, Stéphane, Gimenez-Roqueplo, Anne-Paule, Cario, Holger, Gardie, Betty

Source: In Blood 2 August 2018 132(5):469-483

SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage

Authors: Clifford, Ruth, Louis, Tania, Robbe, Pauline, Ackroyd, Sam, Burns, Adam, Timbs, Adele T., Wright Colopy, Glen, Dreau, Helene, Sigaux, Francois, Judde, Jean Gabriel, Rotger, Margalida, Telenti, Amalio, Lin, Yea-Lih, Pasero, Philippe, Maelfait, Jonathan, Titsias, Michalis, Cohen, Dena R., Henderson, Shirley J., Ross, Mark T., Bentley, David, Hillmen, Peter, Pettitt, Andrew, Rehwinkel, Jan, Knight, Samantha J.L., Taylor, Jenny C., Crow, Yanick J., Benkirane, Monsef, Schuh, Anna

Source: In Blood 13 February 2014 123(7):1021-1031

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 Left Ventricular Noncompaction

Authors: 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

Source: Circulation.Cardiovascular genetics. 9(5):426-435

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100050769413.0x000001&indx=1&recIds=ETOCvdc_100050769413.0x000001

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

Authors: 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.

Source: American journal of human genetics. 91(5):897-905

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100065632810.0x000001&indx=1&recIds=ETOCvdc_100065632810.0x000001

The Use of Subtelomeric Probes to Study Mental Retardation

Authors: Knight, Samantha J.L., Flint, Jonathan

Source: In Methods in Cell Biology 2004 75:799-831

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

Authors: 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

Source: In The American Journal of Human Genetics 2000 67(2):320-332

Subtle chromosomal rearrangements in children with unexplained mental retardation.

Authors: Knight, Samantha J.L., Regan, Regina, Nicod, Alison, Horsley, Sharon W., Kearney, Lyndal, Homfray, Tessa, Winter, Robin M., Bolton, Patrick, Flint, Jonathan

Source: Lancet. 11/13/1999, Vol. 354 Issue 9191, p1676-1681. 6p. 1 Black and White Photograph, 4 Charts.

Subject Terms: *INTELLECTUAL disabilities, *DEVELOPMENTAL disabilities, *CHILDREN with intellectual disabilities, *CHROMOSOMAL rearrangement

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

Authors: 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., III, Robinson, Peter N., Kini, Usha, Taylor, Jenny C., Horn, Denise, Kinoshita, Taroh, Krawitz, Peter M.

Source: In The American Journal of Human Genetics 6 February 2014 94(2):278-287

Identification of a new VHLexon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease

Authors: Lenglet, Marion, Robriquet, Florence, Schwarz, Klaus, Camps, Carme, Couturier, Anne, Hoogewijs, David, Buffet, Alexandre, Knight, Samantha J.L., Gad, Sophie, Couvé, Sophie, Chesnel, Franck, Pacault, Mathilde, Lindenbaum, Pierre, Job, Sylvie, Dumont, Solenne, Besnard, Thomas, Cornec, Marine, Dreau, Helene, Pentony, Melissa, Kvikstad, Erika, Deveaux, Sophie, Burnichon, Nelly, Ferlicot, Sophie, Vilaine, Mathias, Mazzella, Jean-Michaël, Airaud, Fabrice, Garrec, Céline, Heidet, Laurence, Irtan, Sabine, Mantadakis, Elpis, Bouchireb, Karim, Debatin, Klaus-Michael, Redon, Richard, Bezieau, Stéphane, Bressac-de Paillerets, Brigitte, Teh, Bin Tean, Girodon, François, Randi, Maria-Luigia, Putti, Maria Caterina, Bours, Vincent, Van Wijk, Richard, Göthert, Joachim R., Kattamis, Antonis, Janin, Nicolas, Bento, Celeste, Taylor, Jenny C., Arlot-Bonnemains, Yannick, Richard, Stéphane, Gimenez-Roqueplo, Anne-Paule, Cario, Holger, Gardie, Betty

Source: Blood; August 2018, Vol. 132 Issue: 5 p469-483, 15p

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

Authors: 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., Dooren, Marieke F., Magielsen, Frank J., Wall, Steven A., Mathijssen, Irene M.J., Wilkie, Andrew O.M., Spek, Peter J., Ouweland, Ans M.W.

Source: Human Mutation; Aug2016, Vol. 37 Issue 8, p732-736, 5p

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes.

Authors: Twigg, Stephen R.F., Babbs, Christian, van den Elzen, Marijke E.P., Goriely, Anne, Taylor, Stephen, McGowan, Simon J., Giannoulatou, Eleni, Lonie, Lorne, Ragoussis, Jiannis, Akha, Elham Sadighi, Knight, Samantha J.L., Zechi-Ceide, Roseli M., Hoogeboom, Jeannette A.M., Pober, Barbara R., Toriello, Helga V., Wall, Steven A., Rita Passos-Bueno, M., Brunner, Han G., Mathijssen, Irene M.J., Wilkie, Andrew O.M.

Source: Human Molecular Genetics; Apr2013, Vol. 22 Issue 8, p1654-1662, 9p

A novel nonsense CDK5RAP2 mutation in a Somali child with primary microcephaly and sensorineural hearing loss.

Authors: Pagnamenta, Alistair T.¹, Murray, Jennie E.², Yoon, Grace³, Akha, Elham Sadighi¹, Harrison, Victoria⁴, Bicknell, Louise S.², Ajilogba, Kaseem⁵, Stewart, Helen⁴, Kini, Usha⁴, Taylor, Jenny C.¹, Keays, David A.⁶, Jackson, Andrew P.², Knight, Samantha J.L.¹

Source: American Journal of Medical Genetics. Part A; Oct2012, Vol. 158A Issue 10, p2577-2582, 6p

Mutations of NFKBIA, encoding IκBα, are a recurrent finding in classical Hodgkin lymphoma but are not a unifying feature of non-EBV-associated cases.

Authors: Lake, Annette, Shield, Lesley A., Cordano, Pablo, Chui, Daniel T.Y., Osborne, Julie, Crae, Shauna, Wilson, Katherine S., Tosi, Sabrina, Knight, Samantha J.L., Gesk, Stefan, Siebert, Reiner, Hay, Ron T., Jarrett, Ruth F.

Source: International Journal of Cancer; Sep2009, Vol. 125 Issue 6, p1334-1342, 9p

Characterization of a recurrent 15q24 microdeletion syndrome.

Authors: 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.

Source: Human Molecular Genetics; Mar2007, Vol. 16 Issue 5, p567-572, 6p

Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies

Authors: Ilkovski, Biljana, Pagnamenta, Alistair T., O'Grady, Gina L., Kinoshita, Taroh, Howard, Malcolm F., 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, Taylor, Jenny C., Kini, Usha, Murakami, Yoshiko, Clarke, Nigel F., Lek, Monkol, MacArthur, Daniel

Source: Ilkovski, B., A. T. Pagnamenta, G. L. O'Grady, T. Kinoshita, M. F. Howard, M. Lek, B. Thomas, et al. 2015. “Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.” Human Molecular Genetics 24 (21): 6146-6159. doi:10.1093/hmg/ddv331. http://dx.doi.org/10.1093/hmg/ddv331.

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Relation: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4599673/pdf/; Human Molecular Genetics

Access URL: http://nrs.harvard.edu/urn-3:HUL.InstRepos:23474055

The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter.

Authors: Ritchie, Rachael J., Knight, Samantha J.L., Hirst, Mark C., Grewal, Prabhjit K., Bobrow, Martin, Cross, Gareth S., Davies, Kay E.

Source: Human Molecular Genetics; Dec1994, Vol. 3 Issue 12, p2115-2121, 7p