Lista de obras - Tomasz Zemojtel - Dominio Público Uruguay

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

artículo científico publicado en 2016

A novel conserved family of nitric oxide synthase?

Alternate-locus aware variant calling in whole genome sequencing

artículo científico publicado en 2016

BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.

artículo científico publicado en 2016

Breakpointer: using local mapping artifacts to support sequence breakpoint discovery from single-end reads

artículo científico publicado en 2012

CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis—Literature Review and Case Report

artículo científico publicado en 2021

Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia

artículo científico publicado en 2016

CpG deamination creates transcription factor-binding sites with high efficiency

artículo científico publicado en 2011

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

artículo científico publicado en 2011

ECEPE proteins: a novel family of eukaryotic cysteine proteinases

artículo científico publicado en 2004

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

artículo científico publicado en 2014

Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.

artículo científico publicado en 2016

Exonization of active mouse L1s: a driver of transcriptome evolution?

artículo científico publicado en 2007

FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies.

artículo científico publicado en 2015

Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5

article

Genome-wide comparison of cyanobacterial transposable elements, potential genetic diversity indicators

artículo científico publicado en 2010

Hematopoietic lineage distribution and evolutionary dynamics of clonal hematopoiesis

artículo científico publicado en 2018

In search of the prototype of nitric oxide synthase

artículo científico publicado en 2003

L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes

artículo científico publicado en 2017

L1Base: from functional annotation to prediction of active LINE-1 elements

artículo científico publicado en 2005

MIA is a potential biomarker for tumour load in neurofibromatosis type 1

artículo científico publicado en 2011

Mammalian mitochondrial nitric oxide synthase: characterization of a novel candidate

scientific journal article

Mutations in proteasome-related genes are associated with thyroid hemiagenesis

artículo científico publicado en 2017

NO-bound myoglobin: structural diversity and dynamics of the NO ligand

artículo científico publicado en 2004

NOA1 is an essential GTPase required for mitochondrial protein synthesis

scientific journal article

Next-generation diagnostics and disease-gene discovery with the Exomiser

artículo científico publicado en 2015

Ocular findings in Loeys-Dietz syndrome

artículo científico publicado en 2017

P53 binding sites in transposons

artículo científico publicado en 2012

PBX1 is dispensable for neural commitment of RA-treated murine ES cells

artículo científico publicado en 2009

Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene

artículo científico publicado en 2018

Plant nitric oxide synthase: a never-ending story?

article

Pre-B-cell transcription factor 1 and steroidogenic factor 1 synergistically regulate adrenocortical growth and steroidogenesis

artículo científico publicado en 2006

Rap1A-deficient T and B cells show impaired integrin-mediated cell adhesion

artículo científico publicado en 2006

Recessive inheritance of population-specific intronic LINE-1 insertion causes a rotor syndrome phenotype

artículo científico publicado en 2015

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

scientific journal article

Retrotransposition and mutation events yield Rap1 GTPases with differential signalling capacity

artículo científico publicado en 2010

Role of Donor Clonal Hematopoiesis in Allogeneic Hematopoietic Stem-Cell Transplantation

artículo científico publicado en 2018

Role of the interdomain linker probed by kinetics of CO ligation to an endothelial nitric oxide synthase mutant lacking the calmodulin binding peptide (residues 503-517 in bovine).

artículo científico publicado en 2003

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient

artículo científico publicado en 2014

Systems-level evidence of transcriptional co-regulation of yeast protein complexes

artículo científico publicado en 2009

The Human Phenotype Ontology in 2017

artículo científico publicado en 2016

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

artículo científico publicado en 2015

The Spt-Ada-Gcn5-acetyltransferase complex interaction motif of E2a is essential for a subset of transcriptional and oncogenic properties of E2a-Pbx1.

artículo científico publicado en 2009

The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

scientific article published on 26 April 2020

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases

artículo científico publicado en 2014

Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion

artículo científico publicado en 2013

Lista de obras de Tomasz Zemojtel

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease

A novel conserved family of nitric oxide synthase?

Alternate-locus aware variant calling in whole genome sequencing

BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.

Breakpointer: using local mapping artifacts to support sequence breakpoint discovery from single-end reads

CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis—Literature Review and Case Report

Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia

CpG deamination creates transcription factor-binding sites with high efficiency

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

ECEPE proteins: a novel family of eukaryotic cysteine proteinases

Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome

Exome sequencing reveals two novel compound heterozygous XYLT1 mutations in a Polish patient with Desbuquois dysplasia type 2 and growth hormone deficiency.

Exonization of active mouse L1s: a driver of transcriptome evolution?

FGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies.

Further evidence for FGF16 truncating mutations as the cause of X-linked recessive fusion of metacarpals 4 / 5

Genome-wide comparison of cyanobacterial transposable elements, potential genetic diversity indicators

Hematopoietic lineage distribution and evolutionary dynamics of clonal hematopoiesis

In search of the prototype of nitric oxide synthase

L1Base 2: more retrotransposition-active LINE-1s, more mammalian genomes

L1Base: from functional annotation to prediction of active LINE-1 elements

MIA is a potential biomarker for tumour load in neurofibromatosis type 1

Mammalian mitochondrial nitric oxide synthase: characterization of a novel candidate

Mutations in proteasome-related genes are associated with thyroid hemiagenesis

NO-bound myoglobin: structural diversity and dynamics of the NO ligand

NOA1 is an essential GTPase required for mitochondrial protein synthesis

Next-generation diagnostics and disease-gene discovery with the Exomiser

Ocular findings in Loeys-Dietz syndrome

P53 binding sites in transposons

PBX1 is dispensable for neural commitment of RA-treated murine ES cells

Phenotype of two Polish patients with Schaaf-Yang syndrome confirmed by identifying mutation in MAGEL2 gene

Plant nitric oxide synthase: a never-ending story?

Pre-B-cell transcription factor 1 and steroidogenic factor 1 synergistically regulate adrenocortical growth and steroidogenesis

Rap1A-deficient T and B cells show impaired integrin-mediated cell adhesion

Recessive inheritance of population-specific intronic LINE-1 insertion causes a rotor syndrome phenotype

Recurrent De Novo Mutations Affecting Residue Arg138 of Pyrroline-5-Carboxylate Synthase Cause a Progeroid Form of Autosomal-Dominant Cutis Laxa

Retrotransposition and mutation events yield Rap1 GTPases with differential signalling capacity

Role of Donor Clonal Hematopoiesis in Allogeneic Hematopoietic Stem-Cell Transplantation

Role of the interdomain linker probed by kinetics of CO ligation to an endothelial nitric oxide synthase mutant lacking the calmodulin binding peptide (residues 503-517 in bovine).

Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient

Systems-level evidence of transcriptional co-regulation of yeast protein complexes

The Human Phenotype Ontology in 2017

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease

The Spt-Ada-Gcn5-acetyltransferase complex interaction motif of E2a is essential for a subset of transcriptional and oncogenic properties of E2a-Pbx1.

The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes

Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases

Whole exome sequencing identifies FGF16 nonsense mutations as the cause of X-linked recessive metacarpal 4/5 fusion