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Informatics for sex- and gender-related health: understanding the problems, developing new methods, and designing new solutions

Mary Regina Boland, Noémie Elhadad, Wanda Pratt
2022 JAMIA Journal of the American Medical Informatics Association  
an Multi-PheWAS intersection approach to identify sex differences across comorbidities in 59 140 autism spectrum disorder pediatric patients Sex differences Translational informatics 35 Downloaded  ...  among autism spectrum disorder (ASD) pediatric patients. 35 ASD is a disease that typically affects males more frequently than females.  ...  sex and gender in their studies.  ... 
doi:10.1093/jamia/ocab287 pmid:35024858 pmcid:PMC8757304 fatcat:p6q4aarunnaarob3subbfkxreu

Communication Profiles of Adolescents With Down Syndrome

Margaret M. Rosin, Edie Swift, Diane Bless, Dolores Kluppel Vetter
1988 Journal of Childhool Communication Disorders  
We studied 28 adolescents/young adults with autism spectrum disorders (ASD) and 13 age/sex matched individuals of typical development (TD).  ...  Older adults with low SES exhibited unified decline across all networks compared to more heterogeneous growth patterns in high SES older adults.  ...  research will be vital to improving language interventions in ASD, especially for children with ASD whose language deficits do not respond to intervention.  ... 
doi:10.1177/152574018801200105 fatcat:hau6fa4myjecxjgdwaq65ixb6a

ACNP 56th Annual Meeting: Poster Session I, December 4, 2017

2017 Neuropsychopharmacology  
Increased understanding of shared pathophysiology between stress-related psychiatric and medical disorders such as PTSD and T2DM may lead to novel approaches to prevention and progression of disease and  ...  Furthermore, DexIC50 (p = 0.003) and NF-κB pathway activity (p = 0.013) were increased significantly in women with PTSD as compared to women without PTSD.  ...  We identified gene-tissue associations with specific BPDrelated endophenotypes using a PHEWAS-based approach.  ... 
doi:10.1038/npp.2017.264 pmid:29192265 fatcat:psc2w4azgrbfhjtxe6oxrnsdaq

Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Oral Presentations

2020 European Journal of Human Genetics  
Introduction: Large-scale exome sequencing studies have identified hundreds of genes with significant excess of de novo mutations (DNMs) in neurodevelopmental disorders (NDDs).  ...  in a subset of the patients.  ...  in individuals affected by these disorders.  ... 
doi:10.1038/s41431-020-00740-6 pmid:33262484 fatcat:6bfe5kviofdd7fw5tcdr6y3cgu

Abstracts from the 52nd European Society of Human Genetics (ESHG) Conference: Oral Presentations

2019 European Journal of Human Genetics  
Here, we compared diagnostic yields from WGS to those from karyotype, CMA, and whole exome sequencing (WES) in a pediatric cohort of 2,100 quartet families with a proband diagnosed with autism spectrum  ...  delivery across multi-site networks.  ...  J Introduction: The 16p11.2 is the most common among all rare copy number variants (CNVs) associated with Autism Spectrum Disorder (ASD).  ... 
doi:10.1038/s41431-019-0492-4 fatcat:wuudroxpgfe6vfpv2ddzyr7vhi

Abstracts from the XIth World DOHaD Congress

2019 Journal of Developmental Origins of Health and Disease  
We followed the children in the Danish National Patient Register from age 3-9 years to identify all children for their first diagnosis of asthma.  ...  We aimed to evaluate the associations of preconception BMI, FPG alone and their combination with PTB.  ...  between hypertensive disorders of pregnancy (HDP) and neurodevelopmental disorders including autism spectrum disorder.  ... 
doi:10.1017/s2040174419000643 fatcat:sgbbtoqodrhipjzyc33ujpt5gq