Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Suresh Somarathi"'
Autor:
George J Burghel, Bronwyn Kerr, Sanjeev S. Bhaskar, John Ealing, Helen Kingston, Claire Kyle, Iain A. Bruce, Helen M. Stuart, Graeme C.M. Black, Algy Taylor, Elizabeth A. Jones, Siddharth Banka, Abigail Rousseau, Suresh Somarathi, D A Gokhale, Emma Burkitt-Wright, Jamie M Ellingford, Laura Dutton, Kate Chandler, Sofia Douzgou, Leslie P Molina-Ramírez, Ronnie Wright, Adele Fairclough, William G. Newman, Tracy A Briggs, Harriet Jackson, Christopher J. Campbell, Jill Clayton-Smith
Publikováno v:
Molina-Ramírez, L P, Kyle, C, Ellingford, J M, Wright, R, Taylor, A, Bhaskar, S S, Campbell, C, Jackson, H, Fairclough, A, Rousseau, A, Burghel, G J, Dutton, L, Banka, S, Briggs, T A, Clayton-Smith, J, Douzgou, S, Jones, E A, Kingston, H M, Kerr, B, Ealing, J, Somarathi, S, Chandler, K E, Stuart, H M, Burkitt-Wright, E M, Newman, W G, Bruce, I A, Black, G C & Gokhale, D 2021, ' Personalised virtual gene panels reduce interpretation workload and maintain diagnostic rates of proband-only clinical exome sequencing for rare disorders ', Journal of Medical Genetics . https://doi.org/10.1136/jmedgenet-2020-107303
PurposeThe increased adoption of genomic strategies in the clinic makes it imperative for diagnostic laboratories to improve the efficiency of variant interpretation. Clinical exome sequencing (CES) is becoming a valuable diagnostic tool, capable of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0067003e93ee1155e5c058f3e4351b47
https://pure.manchester.ac.uk/ws/files/194448392/jmedgenet_2020_107303.full.pdf
https://pure.manchester.ac.uk/ws/files/194448392/jmedgenet_2020_107303.full.pdf
Autor:
AK Lampe, Jamie Cruden, Peter D. Turnpenny, Joseph D. Symonds, J. S. Tan, Anita M. Devlin, Shelagh Joss, Suresh Somarathi, Tara Montgomery, Melissa Lees, Jelena Pozojevic, Ailsa McLellan, Nataliya DiDonato, Vivek Mundada, Lesley Nairn, Alan Donaldson, Ajoy Sarkar, Jens Schallner, David R. FitzPatrick, Frank J. Kaiser, Kay Metcalfe, William P Whitehouse, Ilaria Parenti, Sameer M. Zuberi
Publikováno v:
Symonds, J D, Joss, S, Metcalfe, K A, Somarathi, S, Cruden, J, Devlin, A M, Donaldson, A, DiDonato, N, Fitzpatrick, D, Kaiser, F J, Lampe, A K, Lees, M M, McLellan, A, Montgomery, T, Mundada, V, Nairn, L, Sarkar, A, Schallner, J, Pozojevic, J, Parenti, I, Tan, J, Turnpenny, P & Whitehouse, W P & Zuberi, S M 2017, ' Heterozygous truncation mutations of the SMC1A gene cause a severe early onset epilepsy with cluster seizures in females : Detailed phenotyping of 10 new cases ', Epilepsia, vol. 58, no. 4, pp. 565-575 . https://doi.org/10.1111/epi.13669
Objective:\ud \ud The phenotype of seizure clustering with febrile illnesses in infancy/early childhood is well recognized. To date the only genetic epilepsy consistently associated with this phenotype is PCDH19, an X-linked disorder restricted to fe
Autor:
Susan E. Holder, Sally Ann Lynch, Usha Kini, Siddharth Banka, Suresh Somarathi, Shane McKee, Kay Metcalfe, Marta Bertoli, Marc Tischkowitz, Laura M Yates, Sofia Douzgou, Hui Wen Liang, Wafik Mohamed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::da836168c7028e710dcb4564f15497a4
https://doi.org/10.1111/cge.13554/v2/response1
https://doi.org/10.1111/cge.13554/v2/response1
Publikováno v:
Journal of Tropical Pediatrics
Clinical data of 104 hospitalized children during the 2003 epidemic of encephalitis in Andhra Pradesh state was retrospectively analysed to know the clinical profile and risk factors associated with mortality. Fever was the first symptom associated w