Functional screening of congenital heart disease risk loci identifies 5 genes essential for heart development in zebrafish

J Ma, Y Gu, J Liu, J Song, T Zhou, M Jiang… - Cellular and Molecular …, 2023 - Springer
Congenital heart disease (CHD) is the most common birth defect worldwide and a main
cause of perinatal and infant mortality. Our previous genome-wide association study …

CHDbase: a comprehensive knowledgebase for congenital heart disease-related genes and clinical manifestations

WZ Zhou, W Li, H Shen, RW Wang… - Genomics …, 2023 - academic.oup.com
Congenital heart disease (CHD) is one of the most common causes of major birth defects,
with a prevalence of 1%. Although an increasing number of studies have reported the …

Integrated analysis of copy number variation-associated lncRNAs identifies candidates contributing to the etiologies of congenital kidney anomalies

Y Lu, Y Zhou, J Guo, M Qi, Y Lin, X Zhang… - Communications …, 2023 - nature.com
Congenital anomalies of the kidney and urinary tract (CAKUT) are disorders resulting from
defects in the development of the kidneys and their outflow tract. Copy number variations …

Computational analysis of congenital heart disease associated SNPs: Unveiling their impact on the gene regulatory system

S Vashisht, C Parisi, CL Winata - medRxiv, 2024 - medrxiv.org
Congenital heart disease (CHD) is a prevalent condition characterized by defective heart
development, causing premature death and stillbirths among infants. Genome-wide …

Investigation of de novo mutations in human genomes using whole genome sequencing data

A Shah - 2023 - unsworks.unsw.edu.au
De novo mutations (DNMs) are novel mutations which occur for the first time in an offspring
and are not inherited from the parents. High-Throughput Sequencing (HTS) technologies …

[PDF][PDF] “You Are What You Eat”: Stereotype–Based Judgments of Ethnics on the Cuisines Which People Consume in Indonesia

BM Putra - 2023 - researchgate.net
The increased risk of prejudice in ethnic stereotypes against individuals based on the
cuisine Individuals consume in Indonesia. The stereotype-based judgment of ethnic could …

[PDF][PDF] Cardiopathie congénitale chez patiente avec suspicion de syndrome de Down: à propos d'un cas vu au service de Médecine Interne de l'Hôpital de l'Université …

R Richardson, A Wislet, GME Ghandi, C Kelly, D Jéthro… - amhe.org
Les cardiopathies congénitales comprennent un large éventail d'anomalies de la structure
cardiaque qui surviennent avant la naissance1, 2. Elles représentent l'anomalie congénitale …