Lista de obras -

A cautionary note on using binary calls for analysis of DNA methylation.

artículo científico publicado en 2015

A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.

artículo científico publicado en 2017

A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.

artículo científico publicado en 2017

Co-occurrence of Jalili syndrome and muscular overgrowth

artículo científico publicado en 2017

DNA methylation in ELOVL2 and C1orf132 correctly predicted chronological age of individuals from three disease groups.

artículo científico publicado en 2017

DNA methylation signature in blood does not predict calendar age in patients with chronic lymphocytic leukemia but may alert to the presence of disease

scientific article published on 07 February 2018

Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features

artículo científico publicado en 2018

Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation

article

Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia

article

Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy.

artículo científico publicado en 2017

Leukoencephalopathy with Calcifications and Cysts-The First Polish Patient with Labrune Syndrome

artículo científico publicado en 2020

Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.

artículo científico publicado en 2017

Multiple Differentially Methylated Regions Specific to Keratoconus Explain Known Keratoconus Linkage Loci

artículo científico publicado en 2019

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

artículo científico publicado en 2018

Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review

artículo científico publicado en 2017

Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.

artículo científico publicado en 2018

Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15.

artículo científico publicado en 2018

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit

scientific article published on 13 July 2020

Lista de obras de

A cautionary note on using binary calls for analysis of DNA methylation.

A de novo loss-of-function DYNC1H1 mutation in a patient with parkinsonian features and a favourable response to levodopa.

A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.

Co-occurrence of Jalili syndrome and muscular overgrowth

DNA methylation in ELOVL2 and C1orf132 correctly predicted chronological age of individuals from three disease groups.

DNA methylation signature in blood does not predict calendar age in patients with chronic lymphocytic leukemia but may alert to the presence of disease

Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features

Evidence for HNRNPH1 being another gene for Bain type syndromic mental retardation

Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia

Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy.

Leukoencephalopathy with Calcifications and Cysts-The First Polish Patient with Labrune Syndrome

Mild Zellweger syndrome due to a novel PEX6 mutation: correlation between clinical phenotype and in silico prediction of variant pathogenicity.

Multiple Differentially Methylated Regions Specific to Keratoconus Explain Known Keratoconus Linkage Loci

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

Novel GNB1 de novo mutation in a patient with neurodevelopmental disorder and cutaneous mastocytosis: Clinical report and literature review

Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.

Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15.

Rapid Whole-Exome Sequencing as a Diagnostic Tool in a Neonatal/Pediatric Intensive Care Unit