A multidimensional precision medicine approach identifies an autism subtype characterized by dyslipidemia

Y Luo, A Eran, N Palmer, P Avillach… - Nature medicine, 2020 - nature.com
The promise of precision medicine lies in data diversity. More than the sheer size of
biomedical data, it is the layering of multiple data modalities, offering complementary …

Interactions between the lipidome and genetic and environmental factors in autism

CX Yap, AK Henders, GA Alvares, C Giles, K Huynh… - Nature Medicine, 2023 - nature.com
Autism omics research has historically been reductionist and diagnosis centric, with little
attention paid to common co-occurring conditions (for example, sleep and feeding disorders) …

Whole-genome sequencing of quartet families with autism spectrum disorder

RKC Yuen, B Thiruvahindrapuram, D Merico… - Nature medicine, 2015 - nature.com
Autism spectrum disorder (ASD) is genetically heterogeneous, with evidence for hundreds of
susceptibility loci. Previous microarray and exome-sequencing studies have examined …

Transcriptomic analysis of autistic brain reveals convergent molecular pathology

I Voineagu, X Wang, P Johnston, JK Lowe, Y Tian… - Nature, 2011 - nature.com
Autism spectrum disorder (ASD) is a common, highly heritable neurodevelopmental
condition characterized by marked genetic heterogeneity,,. Thus, a fundamental question is …

A genotype-first approach to defining the subtypes of a complex disease

HA Stessman, R Bernier, EE Eichler - Cell, 2014 - cell.com
Medical genetics typically entails the detailed characterization of a patient's phenotypes
followed by genotyping to discover the responsible gene or mutation. Here, we propose that …

Early detection of autism using digital behavioral phenotyping

S Perochon, JM Di Martino, KLH Carpenter… - Nature Medicine, 2023 - nature.com
Early detection of autism, a neurodevelopmental condition associated with challenges in
social communication, ensures timely access to intervention. Autism screening …

Rare coding variation provides insight into the genetic architecture and phenotypic context of autism

JM Fu, FK Satterstrom, M Peng, H Brand, RL Collins… - Nature …, 2022 - nature.com
Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely
observed in the general population. We explored the genes disrupted by these variants from …

Broad transcriptomic dysregulation occurs across the cerebral cortex in ASD

MJ Gandal, JR Haney, B Wamsley, CX Yap, S Parhami… - Nature, 2022 - nature.com
Neuropsychiatric disorders classically lack defining brain pathologies, but recent work has
demonstrated dysregulation at the molecular level, characterized by transcriptomic and …

Autism: highly heritable but not inherited

AL Beaudet - Nature Medicine, 2007 - nature.com
Autism: highly heritable but not inherited | Nature Medicine Skip to main content Thank you for
visiting nature.com. You are using a browser version with limited support for CSS. To obtain the …

Integrative genomics identifies a convergent molecular subtype that links epigenomic with transcriptomic differences in autism

G Ramaswami, H Won, MJ Gandal, J Haney… - Nature …, 2020 - nature.com
Autism spectrum disorder (ASD) is a phenotypically and genetically heterogeneous
neurodevelopmental disorder. Despite this heterogeneity, previous studies have shown …