Next Generation Sequencing (NGS) of Genes Associated with Congenital and Neurodegenerative Ataxia von Kwasniewska, A, Shanks, M, Lise, S, Cader, M, Talbot, K, Downes, S, Ragoussis, J, Nemeth, A

The prevalence of leptotrichia amnionii in cervical swabs of HPV positive and negative women. von Nawrot, R, Kamieniarz, K, Malinowska, M, Józefiak, A, Kedzia, W, Kwaśniewska, A, Kuźma, D, Goździcka-Józefiak, A

Targeted Capture and Next Generation Sequencing (NGS) of genes involved in Inherited Retinal Degeneration (IRD) von Shanks, M, Downes, S, Kwasniewska, A, Packham, E, Clouston, P, Seller, A, Copley, R, Lise, S, Taylor, J, Hudspith, K, Wilkie, A, Ragoussis, J, Nemeth, A

VEGF Expression in Umbilical Cord MSC Depends on the Patient’s Health, the Week of Pregnancy in Which the Delivery Took Place, and the Body Weight of the Newborn – Prel... von Bieńko K, Leszcz M, Więckowska M, Białek J, Petniak A, Szymanowski R, Wilińska A, Piszcz B, Krzyżanowski A, Kwaśniewska A, Płachno BJ, Gil-Kulik P, Kocki J

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Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. von Shanks, M, Downes, S, Copley, R, Lise, S, Broxholme, J, Hudspith, K, Kwasniewska, A, Davies, W, Hankins, M, Packham, E, Clouston, P, Seller, A, Wilkie, A, Taylor, J, Ragoussis, J, Németh, A

Next-generation sequencing (NGS) as a diagnostic tool for retinal degeneration reveals a much higher detection rate in early-onset disease. von Shanks, M, Downes, S, Copley, R, Lise, S, Broxholme, J, Hudspith, K, Kwasniewska, A, Davies, W, Hankins, M, Packham, E, Clouston, P, Seller, A, Wilkie, A, Taylor, J, Ragoussis, J, Németh, A

Revolutionising genetic testing for Ataxias using Next Generation Sequencing (NGS) von Nemeth, A, Kwasniewska, A, Schnekenberg, R, Lise, S, Becker, E, Shanks, M, Cader, M, Talbot, K, de Silva, R, Fletcher, N, Hastings, R, Jayawant, S, Lunt, P, Morrisor, P, Worth, P, Tolmie, J, Packham, E, Seller, A, Ragoussis, J

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model von Németh, A, Jiannis Ragoussis, Kwasniewska, A, Lise, S, Schnekenberg, R, Becker, E, Bera, K, Shanks, M, Gregory, L, Buck, D, Cader, M, Talbot, K, de Silva, R, Fletcher, N, Hastings, R, Jayawant, S, Morrison, P, Worth, P, Taylor, M, Tolmie, J, O’Regan, M, Valentine, R, Packham, E, Evans, J, Seller, A

Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model. von Németh, A, Kwasniewska, A, Lise, S, Parolin Schnekenberg, R, Becker, E, Bera, K, Shanks, M, Gregory, L, Buck, D, Zameel Cader, M, Talbot, K, de Silva, R, Fletcher, N, Hastings, R, Jayawant, S, Morrison, P, Worth, P, Taylor, M, Tolmie, J, O'Regan, M, Valentine, R, Packham, E, Evans, J, Seller, A, Ragoussis, J

Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development. von Lise, S, Clarkson, Y, Perkins, E, Kwasniewska, A, Sadighi Akha, E, Schnekenberg, R, Suminaite, D, Hope, J, Baker, I, Gregory, L, Green, A, Allan, C, Lamble, S, Jayawant, S, Quaghebeur, G, Cader, M, Hughes, S, Armstrong, R, Kanapin, A, Rimmer, A, Lunter, G, Mathieson, I, Cazier, J, Buck, D, Taylor, J, Bentley, D, McVean, G, Donnelly, P, Knight, S, Jackson, M, Ragoussis, J, Németh, A

Rare variant analysis of human and rodent obesity genes in individuals with severe childhood obesity von Hendricks, AE, Bochukova, EG, Marenne, G, Keogh, JM, Atanassova, N, Bounds, R, Wheeler, E, Mistry, V, Henning, E, Körner, A, Muddyman, D, McCarthy, S, Hinney, A, Hebebrand, J, Scott, RA, Langenberg, C, Wareham, NJ, Surendran, P, Howson, JM, Butterworth, AS, Danesh, J, Nordestgaard, BG, Nielsen, SF, Afzal, S, Papadia, S, Ashford, S, Garg, S, Millhauser, GL, Palomino, RI, Kwasniewska, A, Tachmazidou, I, O'Rahilly, S, Zeggini, E, Barroso, I, Farooqi, IS, Understanding Society Scientific Group, Epic-Cvd Consortium, Uk10K Consortium