Browsing Centre for Clinical Pharmacology by Author "Ibanez, K"
Now showing items 1-13 of 13
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100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report
Smedley, D; Smith, KR; Martin, A; Thomas, EA; McDonagh, EM; Cipriani, V; Ellingford, JM; Arno, G; Tucci, A; Vandrovcova, J (2021) -
ExpansionHunter: a sequence-graph-based tool to analyze variation in short tandem repeat regions
Dolzhenko, E; Deshpande, V; Schlesinger, F; Krusche, P; Petrovski, R; Chen, S; Emig-Agius, D; Gross, A; Narzisi, G; Bowman, B (2019-11-15) -
Functional genomics provide key insights to improve the diagnostic yield of hereditary ataxia
Chen, Z; Tucci, A; Cipriani, V; Gustavsson, EK; Ibanez, K; Reynolds, RH; Zhang, D; Vestito, L; Garcia, AC; Sethi, S (2023) -
Genomic loci susceptible to systematic sequencing bias in clinical whole genomes
Freeman, TM; Wang, D; Harris, J; Hackett, JM; Halai, D; Hamblin, A; Henderson, S; Holman, JE; Hubbard, TJP; Ibanez, K (Cold Spring Harbor Laboratory Press., 2020-03) -
Human and mouse essentiality screens as a resource for disease gene discovery
Cacheiro, P; Munoz-Fuentes, V; Murray, SA; Dickinson, ME; Bucan, M; Nutter, LMJ; Peterson, KA; Haselimashhadi, H; Flenniken, AM; Morgan, H (2020-01-31) -
Neuronal intranuclear inclusion disease is genetically heterogeneous
Chen, Z; Yau, WY; Jaunmuktane, Z; Tucci, A; Sivakumar, P; Taliun, SAG; Turner, C; Efthymiou, S; Ibanez, K; Sullivan, R (2020-09) -
PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels
Martin, AR; Williams, E; Foulger, RE; Leigh, S; Daugherty, LC; Niblock, O; Leong, IUS; Smith, KR; Gerasimenko, O; Haraldsdottir, E (Nature Research (part of Springer Nature), 2019-11-01)I ndividual genomes contain millions of genetic variants. When considering which variants may be causative for a given rare genetic disease, applying filtering criteria (such as allele frequency, predicted variant ... -
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeats
Dolzhenko, E; Weisburd, B; Ibanez, K; Rajan-Babu, I-S; Anyansi, C; Bennett, MF; Billingsley, K; Carroll, A; Clamons, S; Danzi, MC (2022) -
Secondary C1q Deficiency in Activated PI3Kδ Syndrome Type 2
Hong, Y; Nanthapisal, S; Omoyinmi, E; Olbrich, P; Neth, O; Speckmann, C; Lucena, JM; Gilmour, K; Worth, A; Klein, N (2019) -
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population
Zanovello, M; Ibanez, K; Brown, A-L; Sivakumar, P; Bombaci, A; Santos, L; van Vugt, JJFA; Narzisi, G; Karra, R; Scholz, SW (2023) -
Uniparental disomy in the Rare Disease Programme of the UK's 100,000 Genomes Project
Smith, KR; Bleda, M; Kasperaviciute, D; Ibanez, K; Martin, AR; Thomas, E; Baple, E; Tucci, A; Caulfield, MJ; Rendon, A (2019-10) -
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study
Schon, KR; Horvath, R; Wei, W; Calabrese, C; Tucci, A; Ibanez, K; Ratnaike, T; Pitceathly, RDS; Bugiardini, E; Quinlivan, R (2021) -
Validation of Clinically Relevant Variant Detection from Whole Genome Sequencing for NHS England's Genomic Medicine Service
Kasperaviciute, D; Smith, KR; Ibanez, K; Pasko, D; Bleda, M; Walker, S; Polychronopoulos, D; Martin, AR; Kayikci, M; Lopez, J (2020-12)