Recent publications:
- Koolen D.A., Vissers L.E.L.M., Pfundt R., de Leeuw N., Knight S.J.L., Regan R., Kooy F., Reyniers E., Romano C., Fichera M., Schinzel A., Baumer A., Anderlid BM., Schoumans J., Knoers NV., v. Kessel AG., Sistermans EA., Veltman JA., Brunner HG., de Vries BBA (2006). A New Frequent Microdeletion Syndrome due to a 17q21.31 deletion encompassing the MAPT gene, associated with a common inversion polymorphism. Nature Genetics. 38:999-1001.
PMID: 16906164
- Sharp A.J., Hansen S., Selzer R., Cheng Z., Regan R., Hurst JA., Stewart H., Blair E., Hennekam R.C., Fitzpatrick CA., Segraves R., Richmond TA., Guiver C., Eis P., Schwartz S., Albertson D.G., Pinkel D., Knight SJL., and Eichler EE (2006). Discovery of Novel Genomic Disorders from the Duplication Architecture of the Human Genome, Nature Genetics. 38:1038-1042.
PMID: 18278044
- Knight S.J.L and Regan R. (2006). Idiopathic Learning Disability and Genome Imbalance. Cytogenetic and Genome Research. 115:215-224.
PMID: 17124403
- Sharp A.J., Selzer R.R., Veltman J.A., Gimelli S., Gimelli G., Striano P., Coppola A., Regan R., Price S.M., Knoers N.V., Eis P., Brunner H., Hennekam R.C., Knight S.J.L., de Vries B.B.A., Zuffardi O. and Eichler E.E. (2007). Characterization of a recurrent 15q24 microdeletion syndrome. Hum. Mol. Genet. 16:567-572.
PMID: 17360722
- Romano C., Knight S.J., Martin C.L., de Vries B.B. (2007). 3rd International meeting on cryptic chromosomal rearrangements in mental retardation and autism. Eur. J. Hum. Genet. 15:1098-1101.
PMID: 17579670
- Wordsworth S., Buchanan J., Regan R., Davison V., Smith K., Dyer S., Campbell C., Maher E., Taylor J. and Knight S.JL. (2007). Diagnosing idiopathic learning disability: A cost-effectiveness analysis of microarray technology in the NHS of the United Kingdom. Genomic Medicine, 1:35-45.
PMID: 18923927
- 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
PMID: 18159213
- Martin J., Knight S.J., 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
PMID: 18541972
- 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.
PMID: 18278044
- 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. (2008) 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, 46:223-32.
PMID: 18550696
- Koolen D.A., Sharp A.J., Hurst J.A., Firth H.V., Knight S.J.L., Goldenberg A., Saugier-Veber P., Pfundt R., Vissers L.E., Destrée A., Grisart B., Rooms L., Van der Aa N., Field M., Hackett A., Bell K., Nowaczyk M.J., Mancini G.M., Poddighe P.J., Schwartz C.E., Rossi E., De Gregori M, Antonacci-Fulton L.L., McLellan M.D. 2nd, Garrett J.M., Wiechert M.A., Miner T.L., Crosby S., Ciccone R., Willatt L., Rauch A., Zenker M., Aradhya S., Manning M.A., Strom T.M., Wagenstaller J., Krepischi-Santos A.C., Vianna-Morgante A.M., Rosenberg C., Price S.M., Stewart H., Shaw-Smith C., Brunner H.G., Wilkie A.O.M., Veltman J.A., Zuffardi O., Eichler E.E., de Vries B.B. (2008). Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet. 45:710-720
PMID: 18628315
- Knight S.J.L. (2008) Intellectual Disability: Genetics. In: ENCYCLOPEDIA OF LIFE SCIENCES. John Wiley & Sons, Ltd: Chichester http://www.els.net/ [DOI:10.1002/9780470015902.a0005515.pub2]
- 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., Räber 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.
PMID: 18784092
- 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 (2008) A 15q13.3 microdeletion segregating with autism. Eur J Hum Genet. 17:687-692
PMID: 19050728
- 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 [Epub ahead of print]
PMID: 19372089
