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 …

Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 …

A Mussa, C Leoni, M Iacoviello, D Carli… - Journal of Medical …, 2023 - jmg.bmj.com
Background Postzygotic activating PIK3CA variants cause several phenotypes within the
PIK3CA-related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific …

Assisted reproductive techniques and risk of Beckwith-Wiedemann syndrome

A Mussa, C Molinatto, F Cerrato, O Palumbo… - …, 2017 - publications.aap.org
METHODS: Patients with BWS born in Piemonte, Italy, were identified and matched with the
general demographic data and corresponding regional ART registry. RESULTS: Between …

[PDF][PDF] Syndromic disorders caused by disturbed human imprinting

D Carli, E Riberi, GB Ferrero… - Journal of Clinical …, 2020 - jag.journalagent.com
Imprinting disorders are a group of congenital diseases caused by dysregulation of genomic
imprinting, affecting prenatal and postnatal growth, neurocognitive development …

[HTML][HTML] Lateralized and segmental overgrowth in children

A Mussa, D Carli, S Cardaropoli, GB Ferrero, N Resta - Cancers, 2021 - mdpi.com
Simple Summary Congenital lateralized or segmental overgrowth (LO) disorders are
conditions characterized by excessive tissue growth of a body region often associated with a …

Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients

L Bryant, D Li, SG Cox, D Marchione, EF Joiner… - Science …, 2020 - science.org
Although somatic mutations in Histone 3.3 (H3. 3) are well-studied drivers of oncogenesis,
the role of germline mutations remains unreported. We analyze 46 patients bearing de novo …

[HTML][HTML] Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus

FM Valente, A Sparago, A Freschi, K Hill-Harfe… - Genetics in …, 2019 - nature.com
Abstract Purpose Beckwith–Wiedemann syndrome (BWS) is a developmental disorder
caused by dysregulation of the imprinted gene cluster of chromosome 11p15. 5 and often …

CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD

L Pavinato, A Delle Vedove, D Carli, M Ferrero… - Brain, 2023 - academic.oup.com
We describe an autosomal dominant disorder associated with loss-of-function variants in the
Cell cycle associated protein 1 (CAPRIN1; MIM* 601178). CAPRIN1 encodes a ubiquitous …

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and …

E Di Gregorio, E Riberi, EF Belligni, E Biamino… - Clinical …, 2017 - Wiley Online Library
Background Array‐comparative genomic hybridization (array‐CGH) is a widely used
technique to detect copy number variants (CNVs) associated with developmental …

The spectrum of heart defects in the TRAF7-related multiple congenital anomalies-intellectual disability syndrome

E Pisan, C De Luca, F Brancati… - Proceedings of the …, 2024 - National Acad Sciences
Heterozygous missense variants in TRAF7 lead to various cancers when somatic and a
multiple congenital anomalies--intellectual disability syndrome (MCA-IDS) when germline …