Lista de obras -

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

artículo científico publicado en 2019

A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy

artículo científico publicado en 2018

A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction

artículo científico publicado en 2016

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability ⬇️

artículo científico publicado en 2015

Biallelic mutations in IRF8 impair human NK cell maturation and function ⬇️

artículo científico publicado en 2016

Biallelic variants in KIF14 cause intellectual disability with microcephaly

artículo científico publicado en 2018

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

artículo científico publicado en 2015

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis

scientific article published on 10 February 2017

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.

artículo científico publicado en 2018

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

artículo científico publicado en 2016

Human NK cell deficiency as a result of biallelic mutations in MCM10

scientific article published on 31 August 2020

Lessons learned from additional research analyses of unsolved clinical exome cases

artículo científico publicado en 2017

Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168.

artículo científico publicado en 2017

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia

artículo científico publicado en 2014

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

artículo científico publicado en 2016

Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

artículo científico publicado en 2016

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

artículo científico publicado en 2018

Two male sibs with severe micrognathia and a missense variant in MED12.

artículo científico publicado en 2016

Lista de obras de

A combined immunodeficiency with severe infections, inflammation, and allergy caused by ARPC1B deficiency

A novel NAA10 variant with impaired acetyltransferase activity causes developmental delay, intellectual disability, and hypertrophic cardiomyopathy

A potential founder variant in CARMIL2/RLTPR in three Norwegian families with warts, molluscum contagiosum, and T-cell dysfunction

Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability ⬇️

Biallelic mutations in IRF8 impair human NK cell maturation and function ⬇️

Biallelic variants in KIF14 cause intellectual disability with microcephaly

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies

First Case of CD40LG Deficiency in Ecuador, Diagnosed after Whole Exome Sequencing in a Patient with Severe Cutaneous Histoplasmosis

Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis.

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort

Human NK cell deficiency as a result of biallelic mutations in MCM10

Lessons learned from additional research analyses of unsolved clinical exome cases

Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168.

PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Rapid molecular diagnostics of severe primary immunodeficiency determined by using targeted next-generation sequencing.

Truncating Variants in NAA15 Are Associated with Variable Levels of Intellectual Disability, Autism Spectrum Disorder, and Congenital Anomalies.

Two male sibs with severe micrognathia and a missense variant in MED12.