Functional impact of global rare copy number variation in autism spectrum disorders

D Pinto, AT Pagnamenta, L Klei, R Anney, D Merico… - Nature, 2010 - nature.com
The autism spectrum disorders (ASDs) are a group of conditions characterized by
impairments in reciprocal social interaction and communication, and the presence of …

[PDF][PDF] Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

D Pinto, E Delaby, D Merico, M Barbosa… - The American Journal of …, 2014 - cell.com
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 …

A genome-wide scan for common alleles affecting risk for autism

R Anney, L Klei, D Pinto, R Regan… - Human molecular …, 2010 - academic.oup.com
Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the
known genetic risk has been traced to rare variants, principally copy number variants …

Individual common variants exert weak effects on the risk for autism spectrum disorders

R Anney, L Klei, D Pinto, J Almeida… - Human molecular …, 2012 - academic.oup.com
While it is apparent that rare variation can play an important role in the genetic architecture
of autism spectrum disorders (ASDs), the contribution of common variation to the risk of …

[HTML][HTML] A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

JP Casey, T Magalhaes, JM Conroy, R Regan, N Shah… - Human genetics, 2012 - Springer
Autism spectrum disorder (ASD) is a highly heritable disorder of complex and
heterogeneous aetiology. It is primarily characterized by altered cognitive ability including …

International consensus definition of low anterior resection syndrome

C Keane, NS Fearnhead, L Bordeianou… - Colorectal …, 2020 - Wiley Online Library
Aim Low anterior resection syndrome (LARS) is pragmatically defined as disordered bowel
function after rectal resection leading to a detriment in quality of life. This broad …

[HTML][HTML] A 15q13. 3 microdeletion segregating with autism

AT Pagnamenta, K Wing, E Sadighi Akha… - European Journal of …, 2009 - nature.com
Autism and mental retardation (MR) show high rates of comorbidity and potentially share
genetic risk factors. In this study, a rare∼ 2 Mb microdeletion involving chromosome band …

[HTML][HTML] Rare familial 16q21 microdeletions under a linkage peak implicate cadherin 8 (CDH8) in susceptibility to autism and learning disability

AT Pagnamenta, H Khan, S Walker, D Gerrelli… - Journal of medical …, 2011 - jmg.bmj.com
Background Autism spectrum disorder (ASD) is characterised by impairments in social
communication and by a pattern of repetitive behaviours, with learning disability (LD) …

[HTML][HTML] A family with autism and rare copy number variants disrupting the Duchenne/Becker muscular dystrophy gene DMD and TRPM3

AT Pagnamenta, R Holt, M Yusuf, D Pinto… - Journal of …, 2011 - Springer
Autism spectrum disorder is a genetically complex and clinically heterogeneous
neurodevelopmental disorder. A recent study by the Autism Genome Project (AGP) used 1M …

[PDF][PDF] COLORECTAL SURGERY

C Keane, NS Fearnhead… - ANZ J …, 2020 - minerva-access.unimelb.edu.au
Background: Low anterior resection syndrome (LARS) is pragmatically defined as
disordered bowel function after rectal resection leading to a detriment in quality of life. This …