Lista de obras -

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

scientific article published on 30 January 2020

Birth defects that co-occur with non-syndromic gastroschisis and omphalocele

artículo científico publicado en 2020

Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome

scientific article published on 21 September 2020

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

scientific article published on 25 September 2019

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

artículo científico publicado en 2022

Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO

artículo científico publicado en 2019

Genotype-phenotype correlations in individuals with pathogenic RERE variants.

artículo científico publicado en 2018

Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease

scientific article published on 13 September 2019

Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension

artículo científico publicado en 2020

NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum

artículo científico publicado en 2020

Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability

scientific article published on 09 July 2019

Phenotypic Expansion in KIF1A-related Dominant Disorders: A Description of Novel Variants and Review of Published Cases

scientific article published on 15 September 2020

RERE deficiency leads to decreased expression of GATA4 and the development of ventricular septal defects

article

Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes

artículo científico publicado en 2020

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

artículo científico publicado en 2009

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF

artículo científico publicado en 2019

Underlying genetic etiologies of congenital diaphragmatic hernia

scientific article published on 17 January 2022

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

artículo científico publicado en 2017

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.

artículo científico publicado en 2016

Lista de obras de

BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder

Birth defects that co-occur with non-syndromic gastroschisis and omphalocele

Congenital diaphragmatic hernia as a prominent feature of a SPECC1L-related syndrome

Disruptive variants of CSDE1 associate with autism and interfere with neuronal development and synaptic transmission

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

Further delineation of the phenotypic spectrum associated with hemizygous loss-of-function variants in NONO

Genotype-phenotype correlations in individuals with pathogenic RERE variants.

Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease

Multiple mitochondrial dysfunctions syndrome 1: An unusual cause of developmental pulmonary hypertension

NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum

Novel Missense Variants in ADAT3 as a Cause of Syndromic Intellectual Disability

Phenotypic Expansion in KIF1A-related Dominant Disorders: A Description of Novel Variants and Review of Published Cases

RERE deficiency leads to decreased expression of GATA4 and the development of ventricular septal defects

Recessive ACO2 variants as a cause of isolated ophthalmologic phenotypes

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size

Review of the phenotypic spectrum associated with haploinsufficiency of MYRF

Underlying genetic etiologies of congenital diaphragmatic hernia

Use of Exome Sequencing for Infants in Intensive Care Units: Ascertainment of Severe Single-Gene Disorders and Effect on Medical Management.

Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene.