List of works - Sandra Monfort

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome

scientific article published on 21 April 2015

A subtelomeric translocation apparently implied in multiple abortions.

scientific article

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability

scientific article

Chromosomal location of submicroscopic duplications in patients with neurodevelopmental disorders to identify cases with high risk of familial recurrence

scientific article published on 20 June 2013

De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?

scientific article published on 8 August 2016

Deleción subtelomérica 9qter: definición del síndrome y origen parental en 2 pacientes

scientific article published on 01 March 2007

Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for theATRXgene

article

Duplication of 14q11.2 associates with short stature and mild mental retardation: a putative relation with quantitative trait loci

scientific article published in February 2007

Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum

scientific article published on 23 January 2009

Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements

scientific article published in June 2006

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

scientific article published on 20 December 2018

Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder

scientific article

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing

scientific article published on 12 September 2016

Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features

scientific article published on 05 January 2012

In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients

scientific article published on 27 May 2015

Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome.

scientific article published on 22 March 2011

Large deletion in the Factor VIII gene (F8) involving segmental duplications in int22h shows no haematological phenotype in female carriers, but may be embryonic lethal in males.

scientific article

Localization of MRX82: a new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque family

scientific article published in December 2004

Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.

scientific article published on 22 July 2015

NovelUBE3Amutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions

scientific article published on 01 March 2009

Phenotype profiling of patients with intellectual disability and copy number variations.

scientific article published on 18 April 2014

Prenatal study of common submicroscopic “genomic disorders” using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimester

scientific article published on 29 December 2009

Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome

article

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

scientific article published on 08 September 2018

Robust, Easy, and Dose-Sensitive Methylation Test for the Diagnosis of Prader–Willi and Angelman Syndromes

scientific article published on 01 January 2006

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

scientific journal article

Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15.

scientific article published on 23 December 2009

List of works by Sandra Monfort

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome

A subtelomeric translocation apparently implied in multiple abortions.

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability

Chromosomal location of submicroscopic duplications in patients with neurodevelopmental disorders to identify cases with high risk of familial recurrence

De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?

Deleción subtelomérica 9qter: definición del síndrome y origen parental en 2 pacientes

Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for theATRXgene

Duplication of 14q11.2 associates with short stature and mild mental retardation: a putative relation with quantitative trait loci

Duplication of the Williams-Beuren critical region: case report and further delineation of the phenotypic spectrum

Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing

Hypomethylation of the KCNQ1OT1 imprinting center of chromosome 11 associated to Sotos-like features

In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients

Intronic mutations affecting splicing of MBTPS2 cause ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome.

Large deletion in the Factor VIII gene (F8) involving segmental duplications in int22h shows no haematological phenotype in female carriers, but may be embryonic lethal in males.

Localization of MRX82: a new nonsyndromic X-linked mental retardation locus to Xq24-q25 in a Basque family

Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.

NovelUBE3Amutations causing Angelman syndrome: Different parental origin for single nucleotide changes and multiple nucleotide deletions or insertions

Phenotype profiling of patients with intellectual disability and copy number variations.

Prenatal study of common submicroscopic “genomic disorders” using MLPA with subtelomeric/microdeletion syndrome probe mixes, among gestations with ultrasound abnormalities in the first trimester

Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome

Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature

Robust, Easy, and Dose-Sensitive Methylation Test for the Diagnosis of Prader–Willi and Angelman Syndromes

TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations

Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15.