Complex genomic alterations and intellectual disability: an interpretative challenge-Reference-Cited by-同舟云学术

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Complex genomic alterations and intellectual disability: an interpretative challenge

Published:2020-11-02 Issue:2 Volume:65 Page:113-124
ISSN:0964-2633
Container-title:Journal of Intellectual Disability Research
language:en
Short-container-title:Journal of Intellectual Disability Research

Author:

Silipigni R.¹^ORCID,Milani D.²,Tolva G.²,Monfrini E.³⁴,Giacobbe A.⁵,Marchisio P. G.²,Guerneri S.¹

Affiliation:

1. Laboratory of Medical Genetics Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy

2. Pediatric Highly Intensive Care Unit Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy

3. Neurology Unit Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy

4. Dino Ferrari Center, Neuroscience Section, Department of Pathophysiology and Transplantation University of Milan Milan Italy

5. Child and Adolescent Neuropsychiatric Service (UONPIA) Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milan Italy

Publisher

Wiley

Subject

Psychiatry and Mental health,Neurology (clinical),Neurology,Arts and Humanities (miscellaneous),Rehabilitation

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jir.12797

Reference45 articles.

1. De novo apparently balanced complex chromosome rearrangement (CCR) involving chromosomes 4, 18, and 21 in a girl with mental retardation: Report and review

2. Chromosome 2q duplications: Case report of a de novo interstitial duplication and review of the literature

3. Satb2 Is a Postmitotic Determinant for Upper-Layer Neuron Specification in the Neocortex

4. (2016): Mechanisms underlying structural variant formation in genomic disorders;Carvalho Claudia M. B.;Nature Reviews. Genetics,2016

5. Clinical Genome Resource (ClinGen) consortiumn.d.https://www.ncbi.nlm.nih.gov/projects/dbvar/clingen/

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1. A chromoanagenesis-driven ultra-complex t(5;7;21)dn truncates neurodevelopmental genes in a disabled boy as revealed by whole-genome sequencing;European Journal of Medical Genetics;2022-10

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