Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
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 …
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 …
PIK3CA-related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific …
Assisted reproductive techniques and risk of Beckwith-Wiedemann syndrome
METHODS: Patients with BWS born in Piemonte, Italy, were identified and matched with the
general demographic data and corresponding regional ART registry. RESULTS: Between …
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 …
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 …
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
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 …
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
Abstract Purpose Beckwith–Wiedemann syndrome (BWS) is a developmental disorder
caused by dysregulation of the imprinted gene cluster of chromosome 11p15. 5 and often …
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 …
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 …
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 …
multiple congenital anomalies--intellectual disability syndrome (MCA-IDS) when germline …