Lista de obras -

7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling

artículo científico publicado en 2020

A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign.

artículo científico publicado en 2019

A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome

artículo científico publicado en 2019

An additional patient with a homozygous mutation in DCPS contributes to the delination of Al-Raqad syndrome

artículo científico publicado en 2018

Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile

artículo científico publicado en 2020

Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome

article

Copy number variants in autism spectrum disorders

scientific article published on 20 February 2019

First Report of Low-Rate Mosaicism for 20q11.21q12 Deletion and Delineation of the Associated Disorder

artículo científico publicado en 2018

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report

artículo científico publicado en 2018

Human placenta-derived neurospheres are susceptible to transformation after extensive in vitro expansion

artículo científico publicado en 2014

Neurological and Neuroimaging Features of CYB5R3-Related Recessive Hereditary Methemoglobinemia Type II

artículo científico publicado en 2022

Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene

artículo científico publicado en 2019

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

scientific article published on 15 April 2020

Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome ⬇️

artículo científico publicado en 2019

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

artículo científico publicado en 2015

Reassessment of the 12q15 deletion syndrome critical region

artículo científico publicado en 2017

Small 4p16.3 deletions: Three additional patients and review of the literature

article

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.

artículo científico publicado en 2018

Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome.

artículo científico publicado en 2017

Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1.

artículo científico publicado en 2016

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation

scientific article published on 27 March 2019

Lista de obras de

7q11.23 Microduplication Syndrome: Clinical and Neurobehavioral Profiling

A familial chromosomal complex rearrangement confirms RUNX1T1 as a causative gene for intellectual disability and suggests that 1p22.1p21.3 duplication is likely benign.

A heterozygous, intragenic deletion of CNOT2 recapitulates the phenotype of 12q15 deletion syndrome

An additional patient with a homozygous mutation in DCPS contributes to the delination of Al-Raqad syndrome

Atypical 7q11.23 deletions excluding ELN gene result in Williams-Beuren syndrome craniofacial features and neurocognitive profile

Confirmation of BRD4 haploinsufficiency role in Cornelia de Lange-like phenotype and delineation of a 19p13.12p13.11 gene contiguous syndrome

Copy number variants in autism spectrum disorders

First Report of Low-Rate Mosaicism for 20q11.21q12 Deletion and Delineation of the Associated Disorder

First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report

Human placenta-derived neurospheres are susceptible to transformation after extensive in vitro expansion

Neurological and Neuroimaging Features of CYB5R3-Related Recessive Hereditary Methemoglobinemia Type II

Next Generation Sequencing Uncovers a Rare Case of X-linked Ichthyosis in an Adopted Girl Homozygous for a Novel Nonsense Mutation in the STS Gene

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function

Parent-of-Origin Effects in 15q11.2 BP1-BP2 Microdeletion (Burnside-Butler) Syndrome ⬇️

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies

Reassessment of the 12q15 deletion syndrome critical region

Small 4p16.3 deletions: Three additional patients and review of the literature

The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.

Unclassifiable pattern of hypopigmentation in a patient with mosaic partial 12p tetrasomy without Pallister-Killian syndrome.

Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1.

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation