Delighted to hear Aiden speak this morning on the topic of #PsychiatricGenetics (#22q getting a specific mention 🤗) So important to families affected by individually rare collectively common #RareDiseases #CNVs #ThinkGenetics RARE Ireland Jacob Vorstman 🇺🇦 Lorna

De Novo Origin of CNV in Siblings: A Case of Gonadal Mosaicism 👩‍👧‍👦 #CNVs #ThinkGenetics linkedin.com/pulse/de-novo-…

Comprehensive assessment of long-read sequencing platforms and calling algorithms for detection of copy number variation. #LongRead #Sequencing #VariantCalling #CopyNumberVariations #CNVs Briefings in Bioinformatics academic.oup.com/bib/article/25…

Glad to see it stated that it's not just autism that is specific to 'neurodivergence'. Children with #CNVs (copy number variants - individully rare yet collectively very common) have difficulties in all the areas mentioned in this article - time to acknowledge role of genetics.

Human genetic studies have identified common gene variants of small effect and rare risk genes and copy number variants (CNVs) that substantially increase the risk of developing ASD. #ThinkGenetics #ASD #CNVs #NDDs portlandpress.com/biochemsoctran…

2024.09.04 リクエストアワーライブ at Spotify O-EAST #真っ白なキャンバス #白キャンリクアワ #小野寺梓 #CNVS #白キャン

2024.09.04 リクエストアワーライブ at Spotify O-EAST #真っ白なキャンバス #白キャンリクアワ #麦田ひかる #CNVS #白キャン

2024.09.04 リクエストアワーライブ at Spotify O-EAST #真っ白なキャンバス #白キャンリクアワ #鈴木えま #CNVS #白キャン

2024.09.04 リクエストアワーライブ at Spotify O-EAST #真っ白なキャンバス #白キャンリクアワ #浜辺ゆりな #CNVS #白キャン

Copy number variations contribute to malignant tumor development in children with serious birth defects 🔓buff.ly/4dS7b6B Applied Genomics #CNVs #PedOnc #TwoHitHypothesis

Copy number variations (CNVs) play a critical role in the pathogenesis of neurodevelopmental disorders (NDD) among children. #ThinkGenetics #NDDs #CNVs frontiersin.org/journals/genet…

..."a multi-site study on rare genomic disorders: 22q11.2 deletions; 22q11.2 duplications; 16p11.2 deletion; and 16p11.2 duplications. Domains examined include executive functions, episodic memory, complex cognition, social cognition, and psychomotor speed." #CNVs #ThinkGenetics

Our children with #22q (not always given an 'autistic' label - but ASD) also have to work very hard to nagivate daily life. Society is now well aware of Autism, not so for #22q and other individually rare collectively common #CNVs #LeaveNoChildBehind AsIAm

Mmm.... well the researchers may have been surprised, parents however have been saying this forever. Why are we always the last to be heard? 🤔 Plus, many kids WITHOUT an autism diagnosis also tick this box. Think #CNVs #NDDs #ThinkGenetics researchfeatures.com/children-front…

#22qAnd2 #DoubleHits #CNVs #NDDs

Tim Linehan Also because neurodiversity can be due to genetic differences and some genetic differences mean that some children are already genetically predisposed to developing MH issues. #InvisibleDisabilities #CNVs #NDDs ncbi.nlm.nih.gov/pmc/articles/P…,)%2C%20but%20also%20in%20schizophrenia.