Lista de obras -

A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex

artículo científico publicado en 2013

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

scientific journal article

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.

artículo científico publicado en 2017

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

artículo científico publicado en 2015

Correction: Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1

article

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients

artículo científico publicado en 2018

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

artículo científico publicado en 2015

Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

artículo científico publicado en 2010

Exome sequencing identifies the cause of a mendelian disorder

artículo científico publicado en 2010

Expanding the Molecular and Clinical Phenotype of SSR4-CDG.

artículo científico publicado en 2015

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

artículo científico publicado en 2012

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

artículo científico publicado en 2013

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

artículo científico publicado en 2014

Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation

artículo científico publicado en 2019

SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. ⬇️

artículo científico publicado en 2016

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

artículo científico publicado en 2011

Toll-like receptor polymorphism associations with HIV-1 outcomes among sub-Saharan Africans

artículo científico publicado en 2013

Variants in host viral replication cycle genes are associated with heterosexual HIV-1 acquisition in Africans

artículo científico publicado en 2014

Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1.

artículo científico publicado en 2017

Lista de obras de

A new congenital disorder of glycosylation caused by a mutation in SSR4, the signal sequence receptor 4 protein of the TRAP complex

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.

Autosomal dominant multiple pterygium syndrome is caused by mutations in MYH3

Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.

Correction: Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1

DPAGT1 Deficiency with Encephalopathy (DPAGT1-CDG): Clinical and Genetic Description of 11 New Patients

De novo Mutations in NALCN Cause a Syndrome of Congenital Contractures of the Limbs and Face with Hypotonia, and Developmental Delay

De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay

Encephalopathy caused by novel mutations in the CMP-sialic acid transporter, SLC35A1

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

Exome sequencing identifies the cause of a mendelian disorder

Expanding the Molecular and Clinical Phenotype of SSR4-CDG.

Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome

Mosaicism of the UDP-galactose transporter SLC35A2 causes a congenital disorder of glycosylation

Mutations in PIEZO2 cause Gordon syndrome, Marden-Walker syndrome, and distal arthrogryposis type 5.

Mutations in the translocon-associated protein complex subunit SSR3 cause a novel congenital disorder of glycosylation

SRD5A3-CDG: Expanding the phenotype of a congenital disorder of glycosylation with emphasis on adult onset features. ⬇️

Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome

Toll-like receptor polymorphism associations with HIV-1 outcomes among sub-Saharan Africans

Variants in host viral replication cycle genes are associated with heterosexual HIV-1 acquisition in Africans

Whole genome sequencing of extreme phenotypes identifies variants in CD101 and UBE2V1 associated with increased risk of sexually acquired HIV-1.