A multisite study of the clinical diagnosis of different autism spectrum disorders
Context Best-estimate clinical diagnoses of specific autism spectrum disorders (autistic
disorder, pervasive developmental disorder–not otherwise specified, and Asperger syndrome) …
disorder, pervasive developmental disorder–not otherwise specified, and Asperger syndrome) …
[HTML][HTML] The broader autism phenotype and its implications on the etiology and treatment of autism spectrum disorders
J Gerdts, R Bernier - Autism research and treatment, 2011 - hindawi.com
The presence of autism-related traits has been well documented in undiagnosed family
members of individuals with autism spectrum disorder (ASD). The most common finding is mild …
members of individuals with autism spectrum disorder (ASD). The most common finding is mild …
[PDF][PDF] SPARK: A US cohort of 50,000 families to accelerate autism research
…, HL Schneider, H Zaydens, I Arriaga, JA Gerdts… - Neuron, 2018 - cell.com
The Simons Foundation Autism Research Initiative (SFARI) has launched SPARKForAutism.org,
a dynamic platform that is engaging thousands of individuals with autism spectrum …
a dynamic platform that is engaging thousands of individuals with autism spectrum …
[HTML][HTML] Disruptive CHD8 mutations define a subtype of autism early in development
Autism spectrum disorder (ASD) is a heterogeneous disease in which efforts to define
subtypes behaviorally have met with limited success. Hypothesizing that genetically based …
subtypes behaviorally have met with limited success. Hypothesizing that genetically based …
Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases
…, K Hoekzema, M Fenckova, M Kvarnung, J Gerdts… - Nature …, 2017 - nature.com
Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders (NDDs),
but most of the related pathogenic genes are not known. We sequenced 208 candidate …
but most of the related pathogenic genes are not known. We sequenced 208 candidate …
[HTML][HTML] Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
Most genes associated with neurodevelopmental disorders (NDDs) were identified with an
excess of de novo mutations (DNMs) but the significance in case–control mutation burden …
excess of de novo mutations (DNMs) but the significance in case–control mutation burden …
[HTML][HTML] Managing food allergy: GA2LEN guideline 2022
…, A Fiocchi, B Flokstra-de Blok, J Gerdts… - World Allergy …, 2022 - Elsevier
Food allergy affects approximately 2–4% of children and adults. This guideline provides
recommendations for managing food allergy from the Global Allergy and Asthma European …
recommendations for managing food allergy from the Global Allergy and Asthma European …
Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID
Dual-specificity tyrosine-(Y)-phosphorylation-regulated kinase 1 A (DYRK1A) maps to the
Down syndrome critical region; copy number increase of this gene is thought to have a major …
Down syndrome critical region; copy number increase of this gene is thought to have a major …
[HTML][HTML] Clinical phenotype of the recurrent 1q21. 1 copy-number variant
…, EH Sherr, N Pojman, HC Mefford, J Gerdts… - Genetics in …, 2016 - nature.com
Purpose: To characterize the clinical phenotype of the recurrent copy-number variation (CNV)
at 1q21. 1, we assessed the psychiatric and medical phenotypes of 1q21. 1 deletion and …
at 1q21. 1, we assessed the psychiatric and medical phenotypes of 1q21. 1 deletion and …
[PDF][PDF] Disruption of POGZ is associated with intellectual disability and autism spectrum disorders
…, M Nicouleau, S Lyonnet, RA Bernier, J Gerdts… - The American Journal of …, 2016 - cell.com
Intellectual disability (ID) and autism spectrum disorders (ASD) are genetically heterogeneous,
and a significant number of genes have been associated with both conditions. A few …
and a significant number of genes have been associated with both conditions. A few …