Lista de obras -

A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharing

artículo científico publicado en 2013

Androgen receptor function links human sexual dimorphism to DNA methylation

artículo científico publicado en 2013

Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).

artículo científico publicado en 2013

Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy

artículo científico publicado en 2019

COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage

artículo científico publicado en 2009

COL4A2 mutation associated with familial porencephaly and small-vessel disease

artículo científico publicado en 2012

Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia.

artículo científico publicado en 2018

Characterisation of Fmrp in zebrafish: evolutionary dynamics of the fmr1 gene

artículo científico publicado en 2005

Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development

artículo científico publicado en 2017

Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classification

DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.

artículo científico publicado en 2015

Dried blood spot analysis: an easy and reliable tool to monitor the biochemical effect of hematopoietic stem cell transplantation in hurler syndrome patients

artículo científico publicado en 2010

Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience

artículo científico publicado en 2020

Free sialic acid storage disease without sialuria

artículo científico publicado en 2009

From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides

artículo científico publicado en 2016

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

scientific article published on 01 April 2019

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

artículo científico publicado en 2016

Human mutations in integrator complex subunits link transcriptome integrity to brain development

artículo científico publicado en 2017

Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots ⬇️

artículo científico publicado el 22 de enero de 2011

Infantile sialic acid storage disease (ISSD): report of the first case detected in Poland

scientific article published on 01 April 2003

Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features.

artículo científico publicado en 2003

Loss of Nuclear Activity of the FBXO7 Protein in Patients with Parkinsonian-Pyramidal Syndrome (PARK15) ⬇️

artículo científico publicado el 11 de febrero de 2011

Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I ⬇️

artículo científico publicado el 18 de septiembre de 2010

Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors

artículo científico publicado en 2011

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.

artículo científico publicado en 2017

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype ⬇️

artículo científico publicado el 18 de septiembre de 2010

Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy

artículo científico publicado en 2009

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections

artículo científico publicado en 2015

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

artículo científico publicado en 2016

Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency

artículo científico publicado en 2016

Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS.

artículo científico publicado en 2011

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study ⬇️

artículo científico publicado el 25 de enero de 2012

Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations ⬇️

artículo científico publicado el 9 de diciembre de 2012

Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient mice

artículo científico publicado en 2017

RTTN mutations link primary cilia function to organization of the human cerebral cortex

artículo científico publicado en 2012

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

scientific article published on 08 February 2019

Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy.

artículo científico publicado en 2012

Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?

artículo científico publicado en 2014

The live-birth prevalence of mucopolysaccharidoses in Estonia

artículo científico publicado en 2012

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

artículo científico

Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome

artículo científico publicado en 2010

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders

scientific article published in 2023

Lista de obras de

A new coding system for metabolic disorders demonstrates gaps in the international disease classifications ICD-10 and SNOMED-CT, which can be barriers to genotype-phenotype data sharing

Androgen receptor function links human sexual dimorphism to DNA methylation

Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease).

Biallelic Variants in ASNA1, Encoding a Cytosolic Targeting Factor of Tail-Anchored Proteins, Cause Rapidly Progressive Pediatric Cardiomyopathy

COL4A1 mutation in two preterm siblings with antenatal onset of parenchymal hemorrhage

COL4A2 mutation associated with familial porencephaly and small-vessel disease

Candidate CSPG4 mutations and induced pluripotent stem cell modeling implicate oligodendrocyte progenitor cell dysfunction in familial schizophrenia.

Characterisation of Fmrp in zebrafish: evolutionary dynamics of the fmr1 gene

Correction: Human mutations in integrator complex subunits link transcriptome integrity to brain development

Cortical brain malformations: effect of clinical, neuroradiological, and modern genetic classification

DNAJC6 Mutations Associated With Early-Onset Parkinson's Disease.

Dried blood spot analysis: an easy and reliable tool to monitor the biochemical effect of hematopoietic stem cell transplantation in hurler syndrome patients

Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience

Free sialic acid storage disease without sialuria

From Cryptic Toward Canonical Pre-mRNA Splicing in Pompe Disease: a Pipeline for the Development of Antisense Oligonucleotides

Heterogeneous clinical phenotypes and cerebral malformations reflected by rotatin cellular dynamics

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

Human mutations in integrator complex subunits link transcriptome integrity to brain development

Improved assay for differential diagnosis between Pompe disease and acid α-glucosidase pseudodeficiency on dried blood spots ⬇️

Infantile sialic acid storage disease (ISSD): report of the first case detected in Poland

Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features.

Loss of Nuclear Activity of the FBXO7 Protein in Patients with Parkinsonian-Pyramidal Syndrome (PARK15) ⬇️

Metabolic investigations prevent liver transplantation in two young children with citrullinemia type I ⬇️

Microcephaly with simplified gyration, epilepsy, and infantile diabetes linked to inappropriate apoptosis of neural progenitors

Molybdenum cofactor deficiency: Identification of a patient with homozygote mutation in the MOCS3 gene.

Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotype ⬇️

Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy

Mutations in a TGF-β ligand, TGFB3, cause syndromic aortic aneurysms and dissections

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.

Paroxysmal exercise-induced dystonia within the phenotypic spectrum of ECHS1 deficiency

Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS.

Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: A genotype-phenotype study ⬇️

Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations ⬇️

Progressive leukoencephalopathy impairs neurobehavioral development in sialin-deficient mice

RTTN mutations link primary cilia function to organization of the human cerebral cortex

Segmental and total uniparental isodisomy (UPiD) as a disease mechanism in autosomal recessive lysosomal disorders: evidence from SNP arrays

Severe phenotype of severe combined immunodeficiency caused by adenosine deaminase deficiency in a patient with a homozygous mutation due to uniparental disomy.

Severe presentation of WDR62 mutation: is there a role for modifying genetic factors?

The live-birth prevalence of mucopolysaccharidoses in Estonia

The use of dried blood spot samples in the diagnosis of lysosomal storage disorders--current status and perspectives.

Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome

Web-accessible application for identifying pathogenic transcripts with RNA-seq: Increased sensitivity in diagnosis of neurodevelopmental disorders