Heart failure and cognitive impairment: challenges and opportunities
…, CJ Patterson, C Demers, J St. Onge… - … interventions in aging, 2007 - Taylor & Francis
As populations age, heart failure (HF) is becoming increasingly common, and in addition to
a high burden of morbidity and mortality, HF has an enormous financial impact. Though …
a high burden of morbidity and mortality, HF has an enormous financial impact. Though …
Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes
…, J Argente, B Aral, N Gigot, J St-Onge… - Journal of medical …, 2017 - jmg.bmj.com
Oral–facial–digital syndromes (OFDS) gather rare genetic disorders characterised by facial,
oral and digital abnormalities associated with a wide range of additional features (polycystic …
oral and digital abnormalities associated with a wide range of additional features (polycystic …
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes
…, M Beddaoui, D Alcantara, RL Conway, J St-Onge… - Nature …, 2012 - nature.com
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polymicrogyria-
polydactyly-hydrocephalus (MPPH) syndromes are sporadic overgrowth disorders …
polydactyly-hydrocephalus (MPPH) syndromes are sporadic overgrowth disorders …
De novo mutations in the gene encoding the synaptic scaffolding protein SHANK3 in patients ascertained for schizophrenia
…, A Reynolds, D Rochefort, J St-Onge… - Proceedings of the …, 2010 - National Acad Sciences
Schizophrenia likely results from poorly understood genetic and environmental factors. We
studied the gene encoding the synaptic protein SHANK3 in 285 controls and 185 …
studied the gene encoding the synaptic protein SHANK3 in 285 controls and 185 …
PI3K/AKT pathway mutations cause a spectrum of brain malformations from megalencephaly to focal cortical dysplasia
…, S Collins, C Adams, JB Riviere, J St-Onge… - Brain, 2015 - academic.oup.com
Malformations of cortical development containing dysplastic neuronal and glial elements,
including hemimegalencephaly and focal cortical dysplasia, are common causes of …
including hemimegalencephaly and focal cortical dysplasia, are common causes of …
Novel de novo SHANK3 mutation in autistic patients
…, RG Lafrenière, S Laurent, J St‐Onge… - American Journal of …, 2009 - Wiley Online Library
A number of studies have confirmed that genetic factors play an important role in autism
spectrum disorder (ASD). More recently de novo mutations in the SHANK3 gene, a synaptic …
spectrum disorder (ASD). More recently de novo mutations in the SHANK3 gene, a synaptic …
Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test
…, F Feillet, S El Chehadeh‐Djebbar, J St‐Onge… - Clinical …, 2016 - Wiley Online Library
The current standard of care for diagnosis of severe intellectual disability (ID) and epileptic
encephalopathy (EE) results in a diagnostic yield of∼ 50%. Affected individuals nonetheless …
encephalopathy (EE) results in a diagnostic yield of∼ 50%. Affected individuals nonetheless …
[HTML][HTML] Dopaminergic modulation of risk-based decision making
JR St Onge, SB Floresco - Neuropsychopharmacology, 2009 - nature.com
Psychopharmacological studies have implicated the mesolimbic dopamine (DA) system in
the mediation of cost/benefit evaluations about delay or effort-related costs associated with …
the mediation of cost/benefit evaluations about delay or effort-related costs associated with …
SYN1 loss-of-function mutations in autism and partial epilepsy cause impaired synaptic function
…, P Baldelli, L Lapointe, J St-Onge… - Human molecular …, 2011 - academic.oup.com
Several genes predisposing to autism spectrum disorders (ASDs) with or without epilepsy
have been identified, many of which are implicated in synaptic function. Here we report a …
have been identified, many of which are implicated in synaptic function. Here we report a …
[PDF][PDF] PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy
…, M Caron-Debarle, M Avila, J St-Onge… - The American Journal of …, 2013 - cell.com
Short stature, hyperextensibility of joints and/or inguinal hernia, ocular depression, Rieger
anomaly, and teething delay (SHORT) syndrome is a developmental disorder with an …
anomaly, and teething delay (SHORT) syndrome is a developmental disorder with an …