Publications
Peer - Reviewed
Pagnamenta AT, Lise S, Harrison V, Stewart H, Jayawant S, Quaghebeur G, Deng AT, Murphy VE, Sadighi Akha E, Rimmer A, Mathieson I, Knight SJL, Kini U, Taylor JC and Keays DA. Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies. JHG 2012 57:70-72
Lake A., Shield L.A., Cordano P., Chui D.T.Y., Osborne J., Crae S., Wilson K.S., Tosi S., Knight S.J.L., Gesk S., Siebert R., Hay R.T., Jarrett R.F.
Mutations of NFKBIA, encoding IκBα, are a recurrent finding in classical Hodgkin lymphoma but are not a unifying feature of non-EBV-associated cases.
Int J Cancer 2009 125:1334-42
van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, Van der Aa N, van Ravenswaaij C, Nobrega MA, Serra-Juhé C, Simonic I, de Leeuw N, Pfundt R, Bongers EM, Baker C, Finnemore P, Huang S, Maloney VK, Crolla JA, van Kalmthout M, Elia M, Vandeweyer G, Fryns JP, Janssens S, Foulds N, Reitano S, Smith K, Parkel S, Loeys B, Woods CG, Oostra A, Speleman F, Pereira AC, Kurg A, Willatt L, Knight SJ, Vermeesch JR, Romano C, Barber JC, Mortier G, Perez-Jurado LA, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BB.
Further delineation of the 15q13 microdeletion and duplication syndromes: A clinical spectrum varying from non-pathogenic to a severe outcome.
J Med Genet. 2009 Apr;46:511-23.
Hannes FD, Sharp AJ, Mefford HC, de Ravel T, Ruivenkamp CA, Breuning MH, Fryns JP, Devriendt K, Van Buggenhout G, Vogels A, Stewart H, Hennekam RC, Cooper GM, Regan R, Knight SJ, Eichler EE, Vermeesch JR.
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.
J Med Genet. 2009 Apr;46(4):223-32.
Pagnamenta A.T., Wing K., Sadighi Akha E, Knight S.J.L., Bölte S, Schmötzer G., Duketis E., Poustka F., Klauck S.M., Poustka A, Ragoussis J, Bailey A.P., Monaco A.P., IMGSAC
A 15q13.3 microdeletion segregating with autism.
Eur J Hum Genet. 2008 17:687-692
Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD 2nd, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA,
Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, de Vries BB.
Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.
J Med Genet. 2008 Nov;45(11):710-20.
Mefford H.C., Sharp A.J., Baker C., Itsara A., Jiang Z., Buysse K., Huang S., Maloney V.K., Crolla J.A., Baralle D., Collins A., Mercer C., Norga K., de Ravel T., Devriendt K., Bongers E.M., de Leeuw N., Reardon W., Gimelli S., Bena F., Hennekam R.C., Male A., Gaunt L., Clayton-Smith J., Simonic I., Park S.M., Mehta S.G., Nik-Zainal S., Woods C.G., Firth H.V., Parkin G., Fichera M., Reitano S., Lo Giudice M., Li K.E., Casuga I., Broomer A., Conrad B., Schwerzmann M., R¤ber L., Gallati S., Striano P., Coppola A., Tolmie J.L, Tobias E.S., Lilley C., Armengol L., Spysschaert Y., Verloo P., De Coene A., Goossens L., Mortier G., Speleman F., van Binsbergen E., Nelen M.R., Hochstenbach R., Poot M., Gallagher L., Gill M., McClellan J., King M.C., Regan R., Skinner C., Stevenson R.E., Antonarakis S.E., Chen C., Estivill X., Menten B., Gimelli G., Gribble S., Schwartz S., Sutcliffe J.S., Walsh T., Knight S.J., Sebat J., Romano C., Schwartz C.E., Veltman J.A., de Vries B.B., Vermeesch J.R., Barber J.C., Willatt L., Tassabehji M., Eichler E.E. (2008).
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
N Engl J Med. 359:1728-1730
Sharp A.J., Mefford H.C., Li K., Baker C., Skinner C., Stevenson R.E., Schroer R.J., Novara F., De Gregori M., Ciccone R., Broomer A., Casuga I., Wang Y., Xiao C., Barbacioru C., Gimelli G., Bernardina B.D., Torniero C., Giorda R., Regan R., Murday V., Mansour S., Fichera M., Castiglia L., Failla P., Ventura M., Jiang Z., Cooper G.M., Knight S.J., Romano C., Zuffardi O., Chen C., Schwartz CE., Eichler EE. (2008).
A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
Nat Genet 40:322-328.
Martin J., Knight S.J.L., Sharp A.J., Eichler E.E., Hurst J. and Kini U. (2008).
Potocki-Lupski syndrome mimicking a connective tissue disorder.
Clin Dysmorphol. 17:211-213.
Koolen D.A., Sistermans E.A., Nilessen W., Knight S.J.L, Regan R.,
Liu Y-T, Kooy R.F B-M., Schoumans J., van Kessel1 A.G., Nordenskjold M., and de Vries B.B.A. (2008). Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approaches.
Eur J Hum Genet 16:395-400.
Wordsworth S, Buchanan J, Regan R, Davison V, Smith K, Dyer S, Campbell C, Blair E, Maher E, Taylor J, Knight SJ (2007). Diagnosing idiopathic learning disability: a cost-effectiveness analysis of microarray technology in the National Health Service of the United Kingdom.
Genomic Med. 2007;1(1-2):35-45.
Invited Chapters and Reviews
Knight S.J.L. (2008)
Intellectual Disability:Genetics.
In: Encyclopedia of Life Sciences (ELS). John Wiley & Sons, Ltd: Chichester, http://www.els.net/ [DOI:10.1002/9780470015902.a0005515.pub2]
Taylor J.C. (2009)
‘Heart to Heart' A Review of Inherited Cardiovascular Conditions Services. Report of Public Health Genetics Foundation Working Party.
Chapter 8: ‘Horizon scanning: new technological developments and their potential impact on services'.
See comment in BMJ
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