Use of genome sequencing to hunt for cryptic second-hit variants: analysis of 31 cases recruited to the 100 000 Genomes Project
Background Current clinical testing methods used to uncover the genetic basis of rare
disease have inherent limitations, which can lead to causative pathogenic variants being …
disease have inherent limitations, which can lead to causative pathogenic variants being …
Molecular diagnoses and candidate gene identification in the congenital heart disease cohorts of the 100,000 genomes project
V Hartill, M Kabir, S Best, WM Shaikh Qureshi… - European Journal of …, 2024 - nature.com
Congenital heart disease (CHD) describes a structural cardiac defect present from birth. A
cohort of participants recruited to the 100,000 Genomes Project (100 kGP) with syndromic …
cohort of participants recruited to the 100,000 Genomes Project (100 kGP) with syndromic …
A retrospective analysis of phosphatase catalytic subunit gene variants in patients with rare disorders identifies novel candidate neurodevelopmental disease genes
E Lyulcheva-Bennett… - Frontiers in Cell and …, 2023 - frontiersin.org
Rare genetic disorders represent some of the most severe and life-limiting conditions that
constitute a considerable burden on global healthcare systems and societies. Most …
constitute a considerable burden on global healthcare systems and societies. Most …
Investigation of the molecular genetics of renal ciliopathies
M Barroso Gil - 2023 - theses.ncl.ac.uk
Primary ciliopathies are a group of inherited diseases caused by dysfunction or absence of
the primary cilia. They exhibit genetic heterogeneity, genetic pleiotropy and a wide spectrum …
the primary cilia. They exhibit genetic heterogeneity, genetic pleiotropy and a wide spectrum …
[PDF][PDF] Diagnostic Moléculaire des Pathologies de l'Hémostase: Apport du Séquençage à Haut Débit
MQ POMORSKI - 2023 - pepite-depot.univ-lille.fr
Diagnostic Moléculaire des Pathologies de l’Hémostase : Apport du Séquençage à Haut Débit
Page 1 Université de Lille Faculté de Pharmacie de Lille Année Universitaire 2022 / 2023 …
Page 1 Université de Lille Faculté de Pharmacie de Lille Année Universitaire 2022 / 2023 …
Errores diagnósticos: reflexiones sobre la importancia de la precisión en medicina genética
DMN Mora, DL Florez, MP Lubo… - Revista Ciencia y …, 2024 - revistacienciaysalud.ac.cr
El error médico puede surgir en cualquier etapa de la atención sanitaria, afectando a
profesionales de todas las especialidades y teniendo graves repercusiones en pacientes y …
profesionales de todas las especialidades y teniendo graves repercusiones en pacientes y …