Results 271 to 280 of about 174,007 (375)

Comparison of phenotypic and WGS‐derived antimicrobial resistance profiles of Shigella sonnei isolated from cases of diarrhoeal disease in England and Wales, 2015

Journal of Antimicrobial Chemotherapy, 2017
Zahra Sadouki, M. Day, M. Doumith, M. Chattaway, T. Dallman, K. Hopkins, R. Elson, N. Woodford, G. Godbole, C. Jenkins   +9 more
semanticscholar   +1 more source

Genetic Landscape of Robin Sequence: A Systematic Review

Clinical Genetics, EarlyView.
This systematic review summarizes the genetic landscape of Robin sequence (RS), highlighting key differences between isolated and non‐isolated forms and emphasizing the role of up‐to‐date genetic testing for diagnosis and clinical management. ABSTRACT Robin sequence (RS) is a congenital condition characterized by micrognathia, glossoptosis, and upper ...
Shirley van de Velde, Aebele B. Mink van der Molen, Augusta M. A. Lachmeijer, Daan de Leijer, Jeroen J. Smits, Maarten P. G. Massink, Sarah L. Versnel, Marie‐José H. van den Boogaard, Emma C. Paes   +8 more
wiley   +1 more source

Enhanced discrimination of <i>Clostridioides difficile</i> transmission using whole-genome sequencing and <i>in silico</i> multi-locus variable number tandem repeat analysis. [PDF]

Microbiol Spectr
Sundermann AJ, Mills EG, Rangachar Srinivasa V, Griffith MP, Ereifej D, Waggle KD, Raabe NJ, Snyder GM, Van Tyne D, Pless LL, Harrison LH.   +10 more
europepmc   +1 more source

The spread of KPC-producing Enterobacteriaceae in Spain: WGS analysis of the emerging high-risk clones of Klebsiella pneumoniae ST11/KPC-2, ST101/KPC-2 and ST512/KPC-3.

Journal of Antimicrobial Chemotherapy, 2016
J. Oteo, M. Pérez-Vázquez, Verónica Bautista, Adriana Ortega, P. Zamarrón, D. Sáez, S. Fernández-Romero, Noelia Lara, R. Ramiro, B. Aracil, José Campos   +10 more
semanticscholar   +1 more source

CRISPR Activation Reveals the Spliceogenicity of an Intronic NEB Variant in Fetuses With Arthrogryposis Multiplex Congenita 6

Clinical Genetics, EarlyView.
CRISPR activation of NEB in fibroblasts, followed by RNA‐sequencing, documents spliceogenic effects of a NEB intronic variant. The assay enabled variant reclassification as likely pathogenic, providing molecular diagnosis in fetuses with Arthrogryposis multiplex congenita 6.
Doriana Misceo, Thorkild Terkelsen, Sara Margrete Bøen Keim, Pål Marius Bjørnstad, Mari Elen Strand, Vivian Cecilie Orszagh, Uffe Birk Jensen, Eirik Frengen   +7 more
wiley   +1 more source

<i>Mycobacterium tuberculosis</i> cultured in MGIT media for whole-genome sequencing application: a systematic literature review and meta-analysis. [PDF]

Microb Genom
Conceição EC, Wells F, Sharma A, Haffejee M, Mann B, Ngom JT, Omar S, Loubser J, Fuertes MD, Rennie V, Dippenaar A, Heupink T, de Oliveira T, Van der Spuy G, Van Rie A, Warren RM.   +15 more
europepmc   +1 more source

WGS for surveillance of antimicrobial resistance: a pilot study to detect the prevalence and mechanism of resistance to azithromycin in a UK population of non-typhoidal Salmonella.

Journal of Antimicrobial Chemotherapy, 2016
S. Nair, P. Ashton, M. Doumith, S. Connell, A. Painset, S. Mwaigwisya, G. Langridge, E. D. de Pinna, G. Godbole, M. Day   +9 more
semanticscholar   +1 more source

UHRF2 as a genetic correlate of hospitalization in sickle cell disease

British Journal of Haematology, EarlyView.
Mina Cintho Ozahata, Monike Oliveira, Isabel Gomes, Cláudia Maximo, Alessandra Ferraz, André Rolim Belisário, Daiane Souza, Natalia A. Braga, Ester Sabino, Brian Custer, Shannon Kelly, Carla Luana Dinardo, for the REDS‐III Brazil SCD Cohort study and the TOPMed consortium   +12 more
wiley   +1 more source

Portrait of a Spectrum: Clinical and Genetic Characterization of a Large Cohort of Chromatinopathies—30 Years' Experience From a Third Level Center

Clinical Genetics, EarlyView.
Chromatinopathies (CP) are a growing group of rare genetic disorders characterized by cognitive deficits and growth abnormalities. This is the largest collection of CP to date, contributing to a deeper understanding of the landscape and diagnosis of these rare diseases, strongly improved by the use of large‐scale sequencing technologies.
Giulia Bruna Marchetti, Erica Rosina, Camilla Meossi, Michela Mura, Lidia Pezzani, Angelo Selicorni, Maria Francesca Bedeschi, Romano Tenconi, Carlo Agostoni, Palma Finelli, Sara De Matteis, Elisabetta Di Fede, Valentina Massa, Laura Pezzoli, Cristina Gervasini, Maria Iascone, Donatella Milani   +16 more
wiley   +1 more source

Challenges in evaluating whole genome sequencing for newborn screening: series of systematic reviews and roadmap for evidence generation for policy advisers. [PDF]

BMJ Med
Freeman K, Taylor D, Dinnes J, Clark CCA, Kander I, Scandrett K, Chockalingam S, Dracup N, Court R, Butt F, Visintin C, Bonham JR, Elliman D, Shortland G, Mackie A, Miedzybrodzka ZH, Morgan SM, Boardman FK, Takwoingi Y, Shinkins B, Clarke A, Taylor-Phillips S.   +21 more
europepmc   +1 more source