Browsing Centre for Clinical Pharmacology by Author "Cacheiro, P"
Now showing items 1-14 of 14
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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) -
Computational identification of disease models through cross-species phenotype comparison.
Cacheiro, P; Pava, D; Parkinson, H; VanZanten, M; Wilson, R; Gunes, O; The International Mouse Phenotyping Consortium; Smedley, D (The Company of Biologists, 2024-07-01)The use of standardised phenotyping screens to identify abnormal phenotypes in mouse knockouts, together with the use of ontologies to describe such phenotypic features, allows the implementation of an automated and unbiased ... -
A corpus of GA4GH Phenopackets: case-level phenotyping for genomic diagnostics and discovery.
Danis, D; Bamshad, MJ; Bridges, Y; Cacheiro, P; Carmody, LC; Chong, JX; Coleman, B; Dalgleish, R; Freeman, PJ; Graefe, ASL (2024-05-29)The Global Alliance for Genomics and Health (GA4GH) Phenopacket Schema was released in 2022 and approved by ISO as a standard for sharing clinical and genomic information about an individual, including phenotypic descriptions, ... -
Essential genes: a cross-species perspective.
Cacheiro, P; Smedley, D (2023-09)Protein coding genes exhibit different degrees of intolerance to loss-of-function variation. The most intolerant genes, whose function is essential for cell or/and organism survival, inform on fundamental biological processes ... -
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) -
Improving prenatal diagnosis through standards and aggregation.
Duyzend, MH; Cacheiro, P; Jacobsen, JOB; Giordano, J; Brand, H; Wapner, RJ; Talkowski, ME; Robinson, PN; Smedley, D (2024-04)Advances in sequencing and imaging technologies enable enhanced assessment in the prenatal space, with a goal to diagnose and predict the natural history of disease, to direct targeted therapies, and to implement clinical ... -
The International Mouse Phenotyping Consortium: comprehensive knockout phenotyping underpinning the study of human disease
Groza, T; Gomez, FL; Mashhadi, HH; Munoz-Fuentes, V; Gunes, O; Wilson, R; Cacheiro, P; Frost, A; Keskivali-Bond, P; Vardal, B (2022) -
Knockout mice are an important tool for human monogenic heart disease studies
Cacheiro, P; Spielmann, N; Mashhadi, HH; Fuchs, H; Gailus-Durner, V; Smedley, D; de Angelis, MH (2022) -
Lethal phenotypes in Mendelian disorders.
Cacheiro, P; Lawson, S; Van den Veyver, IB; Marengo, G; Zocche, D; Murray, SA; Duyzend, M; Robinson, PN; Smedley, D (Elsevier, 2024-04-13)PURPOSE: Existing resources that characterize the essentiality status of genes are based on either proliferation assessment in human cell lines, viability evaluation in mouse knockouts, or constraint metrics derived from ... -
Mendelian gene identification through mouse embryo viability screening
Cacheiro, P; Westerberg, CH; Mager, J; Dickinson, ME; Nutter, LMJ; Muñoz-Fuentes, V; Hsu, C-W; Van den Veyver, IB; Flenniken, AM; McKerlie, C -
Mendelian gene identification through mouse embryo viability screening.
Cacheiro, P; Westerberg, CH; Mager, J; Dickinson, ME; Nutter, LMJ; Muñoz-Fuentes, V; Hsu, C-W; Van den Veyver, IB; Flenniken, AM; McKerlie, C (2022-10-13)BACKGROUND: The diagnostic rate of Mendelian disorders in sequencing studies continues to increase, along with the pace of novel disease gene discovery. However, variant interpretation in novel genes not currently associated ... -
Pathogenic <i>SPTBN1</i> variants cause an autosomal dominant neurodevelopmental syndrome
Cousin, MA; Creighton, BA; Breau, KA; Spillmann, RC; Torti, E; Dontu, S; Tripathi, S; Ajit, D; Edwards, RJ; Afriyie, S (Nature Research, 2021-07-01)SPTBN1 encodes βII-spectrin, the ubiquitously expressed β-spectrin that forms micrometer-scale networks associated with plasma membranes. Mice deficient in neuronal βII-spectrin have defects in cortical organization, ... -
Prenatal phenotyping: A community effort to enhance the Human Phenotype Ontology.
Dhombres, F; Morgan, P; Chaudhari, BP; Filges, I; Sparks, TN; Lapunzina, P; Roscioli, T; Agarwal, U; Aggarwal, S; Beneteau, C (Wiley, 2022-07-24)Technological advances in both genome sequencing and prenatal imaging are increasing our ability to accurately recognize and diagnose Mendelian conditions prenatally. Phenotype-driven early genetic diagnosis of fetal genetic ... -
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration.
Vetro, A; Pelorosso, C; Balestrini, S; Masi, A; Hambleton, S; Argilli, E; Conti, V; Giubbolini, S; Barrick, R; Bergant, G (Elsevier, 2023-08-03)By converting physical forces into electrical signals or triggering intracellular cascades, stretch-activated ion channels allow the cell to respond to osmotic and mechanical stress. Knowledge of the pathophysiological ...