De novo variants in exomes of congenital heart disease patients identify risk genes and pathways
Background Congenital heart disease (CHD) affects~ 1% of live births and is the most
common birth defect. Although the genetic contribution to the CHD has been long …
common birth defect. Although the genetic contribution to the CHD has been long …
Identification of candidate disease genes in patients with common variable immunodeficiency
Background Common variable immunodeficiency (CVID), the most prevalent form of primary
immunodeficiency (PID), is characterized by hypogammaglobulinemia and recurrent …
immunodeficiency (PID), is characterized by hypogammaglobulinemia and recurrent …
Candidate disease genes identification in patients with congenital neutropenia and a new PID condition
Background: Congenital neutropenia (CN) is a primary immunodeficiency disease (PID),
which is associated with recurrent bacterial infections, autoimmunity, hematological …
which is associated with recurrent bacterial infections, autoimmunity, hematological …
[HTML][HTML] A Machine Learning Approach to Identifying Causal Monogenic Variants in Inflammatory Bowel Disease
Background and Aims Diagnosis of monogenic disease is increasingly important for patient
care and personalizing therapy. However, the current process is nonstandardized …
care and personalizing therapy. However, the current process is nonstandardized …
WebSeq: A Genomic Data Analytics Platform for Monogenic Disease Discovery
M Agarwal, K Ghimire, JD Cogan… - bioRxiv, 2021 - biorxiv.org
Whole exome sequencing (WES) is commonly used to study monogenic diseases. The
application of this sequencing technology has gained in popularity amongst clinicians and …
application of this sequencing technology has gained in popularity amongst clinicians and …
Mechanisms of immune dysregulation leading to inflammatory bowel disease
K Horáčková - 2020 - dspace.cuni.cz
Bc. Klára Horáčková DIPLOMA THESIS Mechanisms of immune dysregulation leading to
inflammatory bowel disease Abstract Inflammatory bowel disease (IBD) is a complex …
inflammatory bowel disease Abstract Inflammatory bowel disease (IBD) is a complex …
RESEARCH ARTICLE Identification of candidate disease genes in
Background: Common variable immunodeficiency (CVID), the most prevalent form of
primary immunodeficiency (PID), is characterized by hypogammaglobulinemia and recurrent …
primary immunodeficiency (PID), is characterized by hypogammaglobulinemia and recurrent …
BEND4 as a Candidate Gene for an Infection-Induced Acute Encephalopathy Characterized by a Cyst and Calcification of the Pons and Cerebellar Atrophy
Three siblings born to Turkish parents from the same village had normal brain development
until acute neurological deterioration between 12 months and 8 years of age. Consequent …
until acute neurological deterioration between 12 months and 8 years of age. Consequent …