List of works - Tomasz Zemojtel

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

scientific article published on 25 August 2016

A novel conserved family of nitric oxide synthase?

Alternate-locus aware variant calling in whole genome sequencing

scientific article published on 13 December 2016

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

scientific article published on 9 June 2016

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

scientific article published in February 2012

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

scientific article published on 23 June 2021

Clinical characterization and mutation spectrum of German patients with familial hypercholesterolemia

scientific article

CpG deamination creates transcription factor-binding sites with high efficiency

scientific article published on 19 October 2011

Deep sequencing reveals 50 novel genes for recessive cognitive disorders

scientific article

ECEPE proteins: a novel family of eukaryotic cysteine proteinases

scientific article published in October 2004

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

scientific article

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

scientific article published on 31 March 2016

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

scientific article

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

scientific article published on 19 June 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

scientific article

Hematopoietic lineage distribution and evolutionary dynamics of clonal hematopoiesis

scientific article published in March 2018

In search of the prototype of nitric oxide synthase

scientific article published in November 2003

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

scientific article

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

scientific article

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

scientific article

Mammalian mitochondrial nitric oxide synthase: characterization of a novel candidate

scientific journal article

Mutations in proteasome-related genes are associated with thyroid hemiagenesis

scientific article

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

scientific article published in February 2004

NOA1 is an essential GTPase required for mitochondrial protein synthesis

scientific journal article

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

scientific article

Ocular findings in Loeys-Dietz syndrome

scientific article published on 16 November 2017

P53 binding sites in transposons

scientific article published on 20 March 2012

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

scientific article

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

scientific article published on 31 January 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

scientific article published on 2 November 2006

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

scientific article published on January 2006

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

scientific article published on March 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

scientific article

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

scientific article published on 07 November 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).

scientific article published in June 2003

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

scientific article

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

scientific article published in February 2009

The Human Phenotype Ontology in 2017

scientific article (publication date: 28 November 2016)

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

scientific article

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

scientific article published on May 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

scientific article

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

scientific article

List of works by 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