[HTML][HTML] Conservation of copy number profiles during engraftment and passaging of patient-derived cancer xenografts

XY Woo, J Giordano, A Srivastava, ZM Zhao… - Nature …, 2021 - nature.com
Patient-derived xenografts (PDXs) are resected human tumors engrafted into mice for preclinical
studies and therapeutic testing. It has been proposed that the mouse host affects tumor …

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study

S Petrovski, V Aggarwal, JL Giordano, M Stosic, K Wou… - The Lancet, 2019 - thelancet.com
Background Identification of chromosomal aneuploidies and copy number variants that are
associated with fetal structural anomalies has substantial value. Although whole-exome …

Parental perceptions of prenatal whole exome sequencing (PPPWES) study

…, J Wynn, E Spiegel, J Giordano… - Prenatal …, 2018 - Wiley Online Library
Objective The objective of the study is to investigate the experiences of couples who underwent
prenatal whole‐exome sequencing (WES) for fetal anomalies and the amount/type of …

Dual-energy CT (DECT) lung perfusion in pulmonary hypertension: concordance rate with V/Q scintigraphy in diagnosing chronic thromboembolic pulmonary …

M Masy, J Giordano, G Petyt, C Hossein-Foucher… - European …, 2018 - Springer
Objectives To evaluate the concordance between DECT perfusion and ventilation/perfusion
(V/Q) scintigraphy in diagnosing chronic thromboembolic pulmonary hypertension (CTEPH). …

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

C Lowther, E Valkanas, JL Giordano, HZ Wang… - The American Journal of …, 2023 - cell.com
Short-read genome sequencing (GS) holds the promise of becoming the primary diagnostic
approach for the assessment of autism spectrum disorder (ASD) and fetal structural …

[HTML][HTML] Causal genetic variants in stillbirth

KE Stanley, J Giordano, V Thorsten… - … England Journal of …, 2020 - Mass Medical Soc
Background In the majority of cases, the cause of stillbirth remains unknown despite detailed
clinical and laboratory evaluation. Approximately 10 to 20% of stillbirths are attributed to …

Lung perfusion characteristics in pulmonary arterial hypertension (PAH) and peripheral forms of chronic thromboembolic pulmonary hypertension (pCTEPH): dual …

J Giordano, S Khung, A Duhamel… - European …, 2017 - Springer
Purpose To compare lung perfusion in PAH and pCTEPH on dual-energy CT (DECT)
examinations. Materials and methods Thirty-one patients with PAH (group 1; n = 19) and pCTEPH (…

A comprehensive PDX gastric cancer collection captures cancer cell–intrinsic transcriptional MSI traits

…, M Cargnelutti, T Capelôa, D Conticelli, J Giordano… - Cancer research, 2019 - AACR
This study reports a multilevel platform of gastric cancer PDXs and identifies a MSI gastric
signature that could contribute to the advancement of precision medicine in gastric cancer. …

[HTML][HTML] Pulmonary circulation abnormalities in post-acute COVID-19 syndrome: dual-energy CT angiographic findings in 79 patients

I Mohamed, V de Broucker, A Duhamel, J Giordano… - European …, 2023 - Springer
Objectives To evaluate the frequency and pattern of pulmonary vascular abnormalities in
the year following COVID-19. Methods The study population included 79 patients remaining …

<? mode longauthoraffil?> The Human Phenotype Ontology in 2024: phenotypes around the world

…, DL Gabriel, K Gilmour, J Giordano… - Nucleic acids …, 2024 - academic.oup.com
The Human Phenotype Ontology (HPO) is a widely used resource that comprehensively
organizes and defines the phenotypic features of human disease, enabling computational …