Caoimhe McKenna
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View article: Dynamic Scene 3D Reconstruction of an Uncooperative Resident Space Object
Dynamic Scene 3D Reconstruction of an Uncooperative Resident Space Object Open
Characterization of uncooperative Resident Space Objects (RSO) play a crucial role in On-Orbit Servicing (OOS) and Active Debris Removal (ADR) missions to assess the geometry and motion properties. To address the challenges of reconstructi…
View article: Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer
Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC and renal cancer Open
These data provide quantitative measures for very rare missense and truncating variants in FH, which reflect the differing phenotypic specificity of HLRCC and renal cancer and may be applicable in clinical variant classification.
View article: X‐Linked Sideroblastic Anaemia Caused by Intronic <i>ALAS2</i> Variant Resulting in Highly Variable Expressive Phenotype in Male Siblings, a Case Report
X‐Linked Sideroblastic Anaemia Caused by Intronic <i>ALAS2</i> Variant Resulting in Highly Variable Expressive Phenotype in Male Siblings, a Case Report Open
X‐linked sideroblastic anaemia (XLSA) is a rare hereditary disorder caused by mutations in the ALAS2 gene, essential for haem biosynthesis. We report two male siblings, the first of whom developed severe microcytic hypochromic anaemia requ…
View article: Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder
Loss of DOT1L disrupts neuronal transcription, behavior, and leads to a neurodevelopmental disorder Open
Individuals with monoallelic gain-of-function variants in the histone lysine methyltransferase DOT1L display global developmental delay and varying congenital anomalies. However, the impact of monoallelic loss of DOT1L remains unclear. Her…
View article: Comparison of the ABC and ACMG systems for variant classification
Comparison of the ABC and ACMG systems for variant classification Open
View article: Mapping Two Decades of Paediatric Down Syndrome Research Literature.
Mapping Two Decades of Paediatric Down Syndrome Research Literature. Open
These findings highlight areas of relative paucity within the paediatric DS literature which may warrant increased academic attention.
View article: Prenatal genomic testing for ultrasound‐detected fetal structural anomalies
Prenatal genomic testing for ultrasound‐detected fetal structural anomalies Open
Key content In the presence of a fetal structural anomaly, fetal DNA can be obtained through invasive testing (e.g. amniocentesis and chorionic villus sampling) in order to undertake genomic testing to attempt to uncover a unifying genetic…
View article: Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition
Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition Open
View article: Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants
Quantifying prediction of pathogenicity for within-codon concordance (PM5) using 7541 functional classifications of BRCA1 and MSH2 missense variants Open
View article: Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia Open
View article: Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy
Heterozygous lamin B1 and lamin B2 variants cause primary microcephaly and define a novel laminopathy Open
View article: Financial Strain, Parental Smoking, and the Great Recession: An Analysis of the UK Millennium Cohort Study
Financial Strain, Parental Smoking, and the Great Recession: An Analysis of the UK Millennium Cohort Study Open
While several studies have shown that FS is associated with a higher prevalence of tobacco use, heavier smoking, and relapsed tobacco use, most of this work used cross-sectional data and none has focused on parents. We used longitudinal da…