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List of works by Ivon Cuscó

A common 16p11.2 inversion underlies the joint susceptibility to asthma and obesity

scientific article published on 20 February 2014

A genetic and phenotypic analysis in Spanish spinal muscular atrophy patients with c.399_402del AGAG, the most frequently found subtle mutation in the SMN1 gene

scientific article published in August 2003

Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2.

scientific article published in April 2013

Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration

scientific article

Association study of six candidate genes asymmetrically expressed in the two cerebral hemispheres suggests the involvement of BAIAP2 in autism.

scientific article published in February 2011

Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.

scientific article published on 26 February 2009

Characterisation of SMN hybrid genes in Spanish SMA patients: de novo, homozygous and compound heterozygous cases

article

Choline acetyltransferase expression does not identify early pathogenic events in fetal SMA spinal cord

scientific article published on 28 January 2005

Contribution of rare copy number variants to isolated human malformations

scientific article

Copy number variation at the 7q11.23 segmental duplications is a susceptibility factor for the Williams-Beuren syndrome deletion

scientific article published on 21 February 2008

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

scientific article published on 11 January 2018

DNA methylation abnormalities in congenital heart disease

scientific article

De novo mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

scientific article published on 14 May 2020

Defective minor spliceosome mRNA processing results in isolated familial growth hormone deficiency

scientific article published on 30 January 2014

Deletion of TET2 gene in an acute myeloid leukemia case with a t(4;15)(q24;q26) characterized by glass needle based chromosome microdissection and oligonucleotide array

scientific article published in September 2011

Detection of novel mutations in the SMN Tudor domain in type I SMA patients

scientific article published on 01 July 2004

Evaluating the Genetics of Common Variable Immunodeficiency: Monogenetic Model and Beyond.

scientific article published on 14 May 2018

Genetic and epigenetic methylation defects and implication of the ERMN gene in autism spectrum disorders.

scientific article published on 12 July 2016

Genetic factors contributing to autism spectrum disorder in Williams-Beuren syndrome

scientific article published on 14 August 2019

Implementation of SMA carrier testing in genetic laboratories: comparison of two methods for quantifying theSMN1gene

article

Implication of fetal SMN2 expression in type I SMA pathogenesis: protection or pathological gain of function?

scientific article published in March 2005

Improved detection of global copy number variation using high density, non-polymorphic oligonucleotide probes

scientific article

Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders

scientific article published on 15 April 2015

MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.

scientific article published on 26 April 2013

Neurotransmitter systems and neurotrophic factors in autism: association study of 37 genes suggests involvement of DDC.

scientific article published on 8 March 2012

New population and phylogenetic features of the internal variation within mitochondrial DNA macro-haplogroup R0

scientific article

Prenatal diagnosis for risk of spinal muscular atrophy

scientific article published on 01 November 2002

Provision of Genetic Services for Autism and its Impact on Spanish Families

scientific article published on 5 July 2017

Reassessing the role of mitochondrial DNA mutations in autism spectrum disorder

scientific article

SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings

scientific article

Severe brain involvement in 5q spinal muscular atrophy type 0

scientific article published on 24 July 2019

Should gamete donors be tested for spinal muscular atrophy?

scientific article published on 01 February 2002

Survival and respiratory decline are not related to homozygous SMN2 deletions in ALS patients

scientific article published in November 2002

Síndrome de microdeleción 1p36

scientific article published on 01 March 2011

The absence of survival motor neuron 2 gene may play a role in multifocal motor neuropathy

article

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