The GA4GH Phenopacket schema: A computable representation of clinical data for precision medicine

JOB Jacobsen, M Baudis, GS Baynam, JS Beckmann… - medRxiv, 2021 - medrxiv.org
… landscape of applications including biobanks, databases and registries, … of diseases and
our ability to manage them. … is driven by the CAKUT (Congenital Anomalies of the Kidneys and …

Congenital cystic adenomatoid malformation (CCAM) type II: A rare case of sudden infant death

M Salerno, F Sessa, G Cocimano, S Roccuzzo… - Children, 2022 - mdpi.com
… : in 2016, the congenital lung anomalies (CLA) Swiss database (CLADatabase) was created,
… surgical lung samples, thus improving our knowledge regarding patient management [44]. …

Genetics and genomics of pediatric pulmonary arterial hypertension

CL Welch, WK Chung - Genes, 2020 - mdpi.com
… to improve molecular diagnosis and clinical management. A … In the PAH Biobank, ten
additional TBX4 variants were … had additional diagnoses of other congenital anomalies. De novo …

Laser microdissection, proteomics, and multiplex immunohistochemistry: a bumpy ride into the study of paraffin-embedded fetal and pediatric lung tissues

LM Cardoso dos Santos, Y Avila, D Schvartz… - Frontiers in …, 2023 - frontiersin.org
… Many biobanks contain a multiplicity of these valuable … proteomics on congenital pulmonary
airway malformation human … yield of protein, we performed a single run of LC-MS/MS in five …

Biobank personnel—The key to its success

A Chróścicka, A Paluch… - Alternatives to …, 2022 - journals.sagepub.com
… for biobanks that are organised and run under a defined quality … biobank supervisor is
responsible for arranging and monitoring staff training, managing documentation and databases, …

The landscape of biobanks in Poland—characteristics of Polish biobanking units at the beginning of BBMRI. pl organization

A Chróścicka, A Paluch, Ł Kozera… - Journal of Translational …, 2021 - Springer
… including web browsers, publication databases, and direct meetings with … management
system, our results indicate that Polish scientists do recognize that a QMS is essential in biobank

Metabolomic profiling of adults with congenital heart disease

A Cedars, C Manlhiot, JM Ko, T Bottiglieri, E Arning… - Metabolites, 2021 - mdpi.com
… ACHD and control were investigated further by metabolic … in an ACHD clinical database
and biobank at Baylor University … or coronary anomalies). All data were collected in a REDCap …

[HTML][HTML] Early origins of lung disease: towards an interdisciplinary approach

NDJ Ubags, MAA Alcazar, SG Kallapur… - … Respiratory Review, 2020 - Eur Respiratory Soc
… exciting opportunities to enhance control/regulation of … paediatric congenital lung abnormalities,
such as congenital … in the form of databases and biobanks. Moreover, interdisciplinary …

From Stem Cells to Populations—Using hiPSC, Next-Generation Sequencing, and GWAS to Explore the Genetic and Molecular Mechanisms of Congenital Heart …

M Broberg, J Hästbacka, E Helle - Genes, 2021 - mdpi.com
… trios with severe CHD compared to 264 control trios [7]. By … study had extracardiac congenital
anomalies, developmental, … New sequencing technologies and large biobank sample …

[PDF][PDF] Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene

L Qiao, L Xu, L Yu, J Wynn, R Hernan, X Zhou… - The American Journal of …, 2021 - cell.com
… history of congenital anomalies, postoperative pulmonary … number of control individuals, and
ni the fold control individuals to … in this study are available at the database of Genotypes and …