Hirschsprung disease—integrating basic science and clinical medicine to improve outcomes
RO Heuckeroth - Nature reviews Gastroenterology & hepatology, 2018 - nature.com
Hirschsprung disease is defined by the absence of enteric neurons at the end of the bowel.
The enteric nervous system (ENS) is the intrinsic nervous system of the bowel and regulates …
The enteric nervous system (ENS) is the intrinsic nervous system of the bowel and regulates …
The emerging genetic landscape of Hirschsprung disease and its potential clinical applications
Hirschsprung disease (HSCR) is the leading cause of neonatal functional intestinal
obstruction. It is a rare congenital disease with an incidence of one in 3,500–5,000 live …
obstruction. It is a rare congenital disease with an incidence of one in 3,500–5,000 live …
Convergence of genes and cellular pathways dysregulated in autism spectrum disorders
Rare copy-number variation (CNV) is an important source of risk for autism spectrum
disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of …
disorders (ASDs). We analyzed 2,446 ASD-affected families and confirmed an excess of …
The copy number variation landscape of congenital anomalies of the kidney and urinary tract
M Verbitsky, R Westland, A Perez, K Kiryluk, Q Liu… - Nature …, 2019 - nature.com
Congenital anomalies of the kidney and urinary tract (CAKUT) are a major cause of pediatric
kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in …
kidney failure. We performed a genome-wide analysis of copy number variants (CNVs) in …
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder
Schizophrenia (SCZ) and bipolar disorder (BD) are highly heritable psychiatric disorders
with overlapping susceptibility loci and symptomatology. We conducted a genome-wide …
with overlapping susceptibility loci and symptomatology. We conducted a genome-wide …
[HTML][HTML] Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT
The leading cause of end-stage renal disease in children is attributed to congenital
anomalies of the kidney and urinary tract (CAKUT). Familial clustering and mouse models …
anomalies of the kidney and urinary tract (CAKUT). Familial clustering and mouse models …
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
Copy number variants (CNVs) are major contributors to genomic imbalance disorders.
Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal …
Phenotyping of 137 unrelated deletion and reciprocal duplication carriers of the distal …
Dose response of the 16p11. 2 distal copy number variant on intracranial volume and basal ganglia
Carriers of large recurrent copy number variants (CNVs) have a higher risk of developing
neurodevelopmental disorders. The 16p11. 2 distal CNV predisposes carriers to eg, autism …
neurodevelopmental disorders. The 16p11. 2 distal CNV predisposes carriers to eg, autism …
An unbiased evaluation of gene prioritization tools
D Börnigen, LC Tranchevent… - …, 2012 - academic.oup.com
Motivation: Gene prioritization aims at identifying the most promising candidate genes
among a large pool of candidates—so as to maximize the yield and biological relevance of …
among a large pool of candidates—so as to maximize the yield and biological relevance of …
Novel genetic aspects of congenital anomalies of kidney and urinary tract
S Weber - Current opinion in pediatrics, 2012 - journals.lww.com
Novel genetic aspects of congenital anomalies of kidney and... : Current Opinion in Pediatrics
Novel genetic aspects of congenital anomalies of kidney and urinary tract : Current Opinion in …
Novel genetic aspects of congenital anomalies of kidney and urinary tract : Current Opinion in …