User profiles for SL Santangelo

Susan L Santangelo

Research Professor of Psychiatry, Tufts University School of Medicine
Verified email at mainehealth.org
Cited by 10294

The genetics of age-related macular degeneration: a review of progress to date

S Haddad, CA Chen, SL Santangelo… - Survey of ophthalmology, 2006 - Elsevier
… Furthermore, the follow-up extremely discordant sib-pair (EDSP) linkage analysis by
Santangelo and colleagues 86 implicated chromosomes 1q, 2q, 6q, 19p, and 20q in the …

What is known about autism: genes, brain, and behavior

SL Santangelo, K Tsatsanis - American Journal of Pharmacogenomics, 2005 - Springer
Autism is a neurodevelopmental disorder of genetic origins, with a heritability of about 90%.
Autistic disorder is classed within the broad domain of pervasive developmental disorders (…

[PDF][PDF] Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

…, EB Robinson, KE Samocha, S Sandin, SL Santangelo… - Cell, 2020 - cell.com
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n
= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …

Autism and serotonin transporter gene polymorphisms: A systematic review and meta‐analysis

CH Huang, SL Santangelo - … Journal of Medical Genetics Part B …, 2008 - Wiley Online Library
… Please cite this article as follows: Huang CH, Santangelo SL. 2008. Autism and Serotonin
Transporter Gene Polymorphisms: … B = number of trios with parents who transmitted SL alleles. …

[HTML][HTML] Association between microdeletion and microduplication at 16p11. 2 and autism

…, RE Tanzi, K Stefansson, SL Santangelo… - … England Journal of …, 2008 - Mass Medical Soc
Background Autism spectrum disorder is a heritable developmental disorder in which
chromosomal abnormalities are thought to play a role. Methods As a first component of a …

Macrocephaly in children and adults with autism

…, J Piven, M Wzorek, R Landa, SL Santangelo… - Journal of the American …, 1997 - Elsevier
OBJECTIVE: To explore the frequency and onset of macrocephaly in autism and its relationship
to clinical features. METHOD: Head circumferences at birth, during early childhood, and …

Meta-analysis of genome scans of age-related macular degeneration

…, ML Klein, JM Seddon, SL Santangelo… - Human molecular …, 2005 - academic.oup.com
A genetic contribution to the development of age-related macular degeneration (AMD) is
well established. Several genome-wide linkage studies have identified a number of putative …

An autosomal genomic screen for autism. Collaborative linkage study of autism.

…, P Palmer, J Piven, J Purdy, SL Santangelo… - American journal of …, 1999 - europepmc.org
Autism is a severe neurodevelopmental disorder defined by social and communication deficits
and ritualistic-repetitive behaviors that are detectable in early childhood. The etiology of …

[PDF][PDF] A genomewide scan for age-related macular degeneration provides evidence for linkage to several chromosomal regions

JM Seddon, SL Santangelo, K Book, S Chong… - The American Journal of …, 2003 - cell.com
We report the results of a genomewide scan for age-related macular degeneration (AMD) in
158 multiplex families. AMD classification was based on fundus photography and was …

Pregnancy complications and obstetric suboptimality in association with autism spectrum disorders in children of the Nurses' Health Study II

…, D Spiegelman, A Ascherio, SL Santangelo - Autism …, 2012 - Wiley Online Library
The authors examined pregnancy and obstetric complications in association with autism
spectrum disorders (ASD) in children of participants from the Nurses' Health Study II, a …