Daniel N. Murphy

Use of standard assessment of post-hemorrhagic ventricular dilation to improve collaboration with referring centers

Alicia Sprecher, Samuel J. Adams, Erwin Cabacungan, Katherine Carlton et autres

us (code pays fourni par la source)

An estimate of the cumulative paediatric prevalence of rare diseases in Ireland and comment on the literature

Emer Anne Gunne, Deborah M. Lambert, Alana Ward, Daniel N. Murphy et autres

ie (code pays fourni par la source)

Designing rare disease care pathways in the Republic of Ireland: a co-operative model

Alana Ward, Daniel N. Murphy, Rita Marron, Vicky McGrath et autres

BACKGROUND: Rare diseases (RDs) are often complex, serious, chronic and multi-systemic conditions, associated with physical, sensory and intellectual disability. Patients require follow-up management from multiple medical specialists and health and social care professionals involving a high level of integrated care, service coordination …

ie, fr (code pays fourni par la source)

A joint NCBI and EMBL-EBI transcript set for clinical genomics and research

Joannella Morales, Shashikant Pujar, Jane E. Loveland, Alex Astashyn et autres

Abstract Comprehensive genome annotation is essential to understand the impact of clinically relevant variants. However, the absence of a standard for clinical reporting and browser display complicates the process of consistent interpretation and reporting. To address these challenges, Ensembl/GENCODE 1 and RefSeq …

gb, us (code pays fourni par la source)

Brief Report: Evaluating the Diagnostic Yield of Commercial Gene Panels in Autism

Fiana Ní Ghrálaigh, Ellen P. McCarthy, Daniel N. Murphy, Louise Gallagher et autres

Autism is a prevalent neurodevelopmental condition, highly heterogenous in both genotype and phenotype. This communication adds to existing discussion of the heterogeneity of clinical sequencing tests, "gene panels", marketed for application in autism. We evaluate the clinical utility of available gene panels …

ie (code pays fourni par la source)

W15. DETERMINING THE CLINICAL UTILITY OF GENE PANELS IN AUTISM: A STUDY OF DIAGNOSTIC YIELD, RELEVANCE, AND PENETRANCE

Fiana Ní Ghrálaigh, Thomas J. Dinneen, Ellen P. McCarthy, Daniel N. Murphy et autres

ie, in (code pays fourni par la source)

Zebrafish Developmental Stage 3' end data (GRCz11/e92)

Richard Joseph White, John E Collins, Ian M. Sealy, Neha Wali et autres

This contains the DeTCT data presented in White et al. 2017 (https://doi.org/10.7554/eLife.30860) mapped to the GRCz11 assembly and counted against the Ensembl version 92 annotation. Descriptions of each file are in the README.md file

The role of primary care in management of rare diseases in Ireland

Niall Byrne, Jacqueline A. Turner, Rita Marron, Deborah M. Lambert et autres

BACKGROUND: 'Slaintecare' aims to address complex patient care needs in an integrated fashion with an emphasis on patient-centred, patient-empowered community care.Currently there is a lack of knowledge of the impact of rare disease management in primary care and of the information tools …

ie (code pays fourni par la source)

Zebrafish Developmental Stages RNA-seq count data (GRCZ11)

Richard Joseph White, John E Collins, Ian M. Sealy, Neha Wali et autres

Count data generated from RNA-seq from zebrafish embryos from 18 developmental stages from 1-cell to 5 dpf (White et al. 2017, http://dx.doi.org/10.7554/eLife.30860) mapped to the GRCz11 assembly.

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

Stéphanie Nguengang Wakap, Deborah M. Lambert, Annie Olry, Charlotte Rodwell et autres

Rare diseases, an emerging global public health priority, require an evidence-based estimate of the global point prevalence to inform public policy. We used the publicly available epidemiological data in the Orphanet database to calculate such a prevalence estimate. Overall, Orphanet contains information …

fr, ie (code pays fourni par la source)

Cis -regulatory basis of sister cell type divergence in the vertebrate retina

Daniel N. Murphy, Andrew E. O. Hughes, Karen A. Lawrence, Connie A. Myers et autres

Abstract Multicellular organisms evolved via repeated functional divergence of transcriptionally related sister cell types, but the mechanisms underlying sister cell type divergence are not well understood. Here, we study a canonical pair of sister cell types, retinal photoreceptors and bipolar cells, to …

us (code pays fourni par la source)

The genetic and biochemical basis of trimethylaminuria in an Irish cohort

Samantha Doyle, James J. O’Byrne, Mandy Nesbitt, Daniel N. Murphy et autres

Abstract Background Inherited trimethylaminuria (TMAU), a rare genetic disorder of hepatic metabolism of trimethylamine (TMA) causing excessive accumulation of malodorous trimethylamine (TMA), is a socially distressing disorder. Diagnosis is made by biochemical analysis of urine, with the calculation of flavin monooxygenase trimethylamine …

ie, gb (code pays fourni par la source)