Image 3_Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome.pdf by Emily R. Gordon (10584881)

“…These analyses demonstrate that underappreciated intronic variants that alter splicing can be relevant for clinical phenotypes of connective tissue disease. This case highlights the importance of prompt familial cascade testing, clinical evaluation with detailed dysmorphology exam, comprehensive genetic testing, and collaboration between clinicians and scientists to characterize variants of uncertain significance to properly assess risk in LDS patients.…”

Data Sheet 3_Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome.pdf by Emily R. Gordon (10584881)

“…These analyses demonstrate that underappreciated intronic variants that alter splicing can be relevant for clinical phenotypes of connective tissue disease. This case highlights the importance of prompt familial cascade testing, clinical evaluation with detailed dysmorphology exam, comprehensive genetic testing, and collaboration between clinicians and scientists to characterize variants of uncertain significance to properly assess risk in LDS patients.…”

Image 2_Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome.pdf by Emily R. Gordon (10584881)

“…These analyses demonstrate that underappreciated intronic variants that alter splicing can be relevant for clinical phenotypes of connective tissue disease. This case highlights the importance of prompt familial cascade testing, clinical evaluation with detailed dysmorphology exam, comprehensive genetic testing, and collaboration between clinicians and scientists to characterize variants of uncertain significance to properly assess risk in LDS patients.…”

Data Sheet 1_Novel variant alters splicing of TGFB2 in family with features of Loeys-Dietz syndrome.pdf by Emily R. Gordon (10584881)

“…These analyses demonstrate that underappreciated intronic variants that alter splicing can be relevant for clinical phenotypes of connective tissue disease. This case highlights the importance of prompt familial cascade testing, clinical evaluation with detailed dysmorphology exam, comprehensive genetic testing, and collaboration between clinicians and scientists to characterize variants of uncertain significance to properly assess risk in LDS patients.…”

Data Sheet 1_Neoadjuvant chemotherapy impacts axillary lymph node positivity in early breast cancer (cT1-2N0M0) with negative axillary lymph nodes at diagnosis.pdf by Jinxiu Ma (3587876)

“…In subgroup analyses, PR_SLN and PR_TLN were significantly lower for NAC followed by surgery compared to upfront surgery in patients aged 40–60 years, with cT2 stage disease, and HER2+ breast cancer. …”

Pre-clinical acute oral toxicity and subacute neurotoxicity risk assessments on sprague dawley rats treated with single dose or repeated doses of flavonoid-enriched fraction extrac... by Farah Amna Othman (20640015)

“…However, translation of these compounds into clinical practice for neurological disease treatment is halted as the toxicity and safety profile of the plant extracts are yet to be determined. …”

Table 1_Coffee consumption as a double-edged sword for serum lipid profile: findings from NHANES 2005–2020.docx by Chaoyue Mo (21684056)

“…In males, a similar non-linear trend was observed for TG, with levels peaking at 3.0 cups/day before decreasing.…”

Presentation 1_Telehealth coaching in older adults, behavior change, and impacts of the COVID-19 pandemic: analyses from The Brain Health Champion Study.pdf by Brittany McFeeley (21104825)

“…Study 1.0 participants indicated a decrease in cognitive activities since the start of COVID-19 restrictions, whereas those in Study 2.0 reported an increase in cognitive activities.…”

Kaplan–Meier survival curves stratified by (A) SAPS 3 (≥70.5 vs. < 70.5; sensitivity 82.5%, specificity 62.0%) and (B) lactate (≥4.55 vs. < 4.55 mmol/L; sensitivity 54.0%, specific... by So-yun Kim (22783464)

Kaplan–Meier curves for in-hospital mortality stratified by (A) SAPS 3 (≥70.5 vs. < 70.5; sensitivity: 78.2%, specificity: 64.4%) and (B) albumin (<2.65 vs. ≥ 2.65 g/dL; sensitivit... by So-yun Kim (22783464)

Camel milk suppressed the concentrations of IL-5 and IL-13 in the lung. by Ayaulym Rakhmatulina (21615979)

IL-4 and IL-13 expression following in vitro stimulation of whole lung cell suspensions with HDM was abolished by camel milk. by Ayaulym Rakhmatulina (21615979)

Identified DMRs including methylation values from all pair-wise comparisons. by Zheng Yu (484983)

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Basal cell division rates in the default HomeostaticEpidermis model. by Hunter L. Colegrove (22227018)

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Sequences and directions of the oligonucleotides used in this study. by Byung-Hak Song (607001)

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Comparison of the complete genome sequences of SA₁₄ and SA₁₄-14-2 strains. by Byung-Hak Song (607001)

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Initial mapping of the viral genomic region related to the variations in viral replication between rSA₁₄ and rSA₁₄-14-2 in cell culture. by Byung-Hak Song (607001)

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Viral pathogenicity of three rSA₁₄-14-2 derivatives <i>in vivo</i>. by Byung-Hak Song (607001)

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Identification of the key viral genetic factors contributing to the variations in viral replication between rSA₁₄ and rSA₁₄-14-2 in cell culture. by Byung-Hak Song (607001)

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Summary of Australian datasets and data registries to be included in the data lake. by Yvonne Tran (3447416)

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