List of works - Jacek Majewski

A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9.

scientific article published on 20 March 2018

A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature

scientific article

Altered IFN-γ-mediated immunity and transcriptional expression patterns in N-Ethyl-N-nitrosourea-induced STAT4 mutants confer susceptibility to acute typhoid-like disease

scientific article published on 27 November 2013

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.

scientific article published on 24 April 2015

An inherited immunoglobulin class-switch recombination deficiency associated with a defect in the INO80 chromatin remodeling complex

scientific article

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

scientific article

Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease

scientific article published on 28 November 2018

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

scientific article

Bioinactive ACTH causing glucocorticoid deficiency

scientific article

CCDC88B is a novel regulator of maturation and effector functions of T cells during pathological inflammation

scientific journal article

CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation

scientific article

CYRI/FAM49B negatively regulates RAC1-driven cytoskeletal remodelling and protects against bacterial infection

scientific article published on 08 July 2019

Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities

scientific article (publication date: 28 December 2015)

Clonal selection drives genetic divergence of metastatic medulloblastoma

scientific article published on 15 February 2012

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease

scientific article

Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease

scientific article published on 20 October 2014

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome ⬇️

scientific article

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

scientific article

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome

scientific article

Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

scientific article (publication date: 29 January 2012)

Exome sequencing as a diagnostic tool for pediatric-onset ataxia

scientific article published in January 2014

Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet.

scientific article published on 21 April 2017

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project

scientific article

Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations

scientific article

Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR.

scientific article published on 8 December 2013

GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

scientific article

Genome-wide mouse mutagenesis reveals CD45-mediated T cell function as critical in protective immunity to HSV-1.

scientific article

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

scientific article

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

scientific article

Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology

scientific article published on 6 September 2014

Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma

scientific article published in October 2012

Intellectual disability associated with a homozygous missense mutation in THOC6

scientific article

Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapy

scientific article published on 14 January 2013

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

scientific article

K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas

scientific article

Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.

scientific article published on 3 January 2013

Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome

scientific article

Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria

scientific article

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population

scientific article

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans

scientific article

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome

scientific article

Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies

scientific article

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

scientific article

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

scientific article (publication date: October 2011)

Mutations in PIK3R1 cause SHORT syndrome

scientific article published on 27 June 2013

Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas

scientific article published on 16 February 2013

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

scientific article

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome

scientific article

Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency

scientific article published on 12 December 2012

Mutations in TMEM231 cause Joubert syndrome in French Canadians

scientific article published on 25 September 2012

Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood

scientific article published on 16 September 2014

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia.

scientific article

Neuropathologic features of pontocerebellar hypoplasia type 6.

scientific article published in November 2014

Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression

scientific article

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband

scientific article (publication date: September 2011)

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

scientific article

Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma

scientific article

Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency

scientific article published on 16 June 2016

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

scientific article published on 22 November 2012

Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events

scientific article published on 2 May 2016

THEMIS is required for pathogenesis of cerebral malaria and protection against pulmonary tuberculosis

scientific article

The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome

scientific article

What can exome sequencing do for you?

scientific article published on 05 July 2011

Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia.

scientific article

Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation

scientific article published on 21 March 2013

Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.

scientific article

List of works by Jacek Majewski

A family segregating lethal neonatal coenzyme Q10 deficiency caused by mutations in COQ9.

A novel CCBE1 mutation leading to a mild form of hennekam syndrome: case report and review of the literature

Altered IFN-γ-mediated immunity and transcriptional expression patterns in N-Ethyl-N-nitrosourea-induced STAT4 mutants confer susceptibility to acute typhoid-like disease

An N-terminal formyl methionine on COX 1 is required for the assembly of cytochrome c oxidase.

An inherited immunoglobulin class-switch recombination deficiency associated with a defect in the INO80 chromatin remodeling complex

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Biallelic Loss-of-Function Variants in AIMP1 Cause a Rare Neurodegenerative Disease

Biallelic mutations in BRCA1 cause a new Fanconi anemia subtype

Bioinactive ACTH causing glucocorticoid deficiency

CCDC88B is a novel regulator of maturation and effector functions of T cells during pathological inflammation

CTP synthase 1 deficiency in humans reveals its central role in lymphocyte proliferation

CYRI/FAM49B negatively regulates RAC1-driven cytoskeletal remodelling and protects against bacterial infection

Choroideremia Is a Systemic Disease With Lymphocyte Crystals and Plasma Lipid and RBC Membrane Abnormalities

Clonal selection drives genetic divergence of metastatic medulloblastoma

Compound heterozygous mutations in glycyl-tRNA synthetase are a proposed cause of systemic mitochondrial disease

Congenital Visual Impairment and Progressive Microcephaly Due to Lysyl-Transfer Ribonucleic Acid (RNA) Synthetase (KARS) Mutations: The Expanding Phenotype of Aminoacyl-Transfer RNA Synthetase Mutations in Human Disease

De novo CCND2 mutations leading to stabilization of cyclin D2 cause megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome ⬇️

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Disrupted auto-regulation of the spliceosomal gene SNRPB causes cerebro-costo-mandibular syndrome

Driver mutations in histone H3.3 and chromatin remodelling genes in paediatric glioblastoma

Exome sequencing as a diagnostic tool for pediatric-onset ataxia

Expansion of the clinical phenotype of the distal 10q26.3 deletion syndrome to include ataxia and hyperemia of the hands and feet.

FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project

Frequent ATRX mutations and loss of expression in adult diffuse astrocytic tumors carrying IDH1/IDH2 and TP53 mutations

Fusion of TTYH1 with the C19MC microRNA cluster drives expression of a brain-specific DNMT3B isoform in the embryonal brain tumor ETMR.

GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.

Genome-wide mouse mutagenesis reveals CD45-mediated T cell function as critical in protective immunity to HSV-1.

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

Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly

Homozygous nonsense mutation in SYNJ1 associated with intractable epilepsy and tau pathology

Hotspot mutations in H3F3A and IDH1 define distinct epigenetic and biological subgroups of glioblastoma

Intellectual disability associated with a homozygous missense mutation in THOC6

Iron refractory iron deficiency anemia: presentation with hyperferritinemia and response to oral iron therapy

Joubert Syndrome in French Canadians and Identification of Mutations in CEP104

K27M mutation in histone H3.3 defines clinically and biologically distinct subgroups of pediatric diffuse intrinsic pontine gliomas

Metaphyseal dysplasia with maxillary hypoplasia and brachydactyly is caused by a duplication in RUNX2.

Mutation in the nuclear-encoded mitochondrial isoleucyl-tRNA synthetase IARS2 in patients with cataracts, growth hormone deficiency with short stature, partial sensorineural deafness, and peripheral neuropathy or with Leigh syndrome

Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria

Mutations in C5ORF42 cause Joubert syndrome in the French Canadian population

Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans

Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndrome

Mutations in NFKB2 and potential genetic heterogeneity in patients with DAVID syndrome, having variable endocrine and immune deficiencies

Mutations in NMNAT1 cause Leber congenital amaurosis and identify a new disease pathway for retinal degeneration

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome

Mutations in PIK3R1 cause SHORT syndrome

Mutations in SETD2 and genes affecting histone H3K36 methylation target hemispheric high-grade gliomas

Mutations in SRCAP, encoding SNF2-related CREBBP activator protein, cause Floating-Harbor syndrome

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome

Mutations in SYNGAP1 cause intellectual disability, autism, and a specific form of epilepsy by inducing haploinsufficiency

Mutations in TMEM231 cause Joubert syndrome in French Canadians

Mutations in riboflavin transporter present with severe sensory loss and deafness in childhood

Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia.

Neuropathologic features of pontocerebellar hypoplasia type 6.

Novel 25 kb Deletion of MERTK Causes Retinitis Pigmentosa With Severe Progression

Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband

Recurrent somatic alterations of FGFR1 and NTRK2 in pilocytic astrocytoma

Recurrent somatic mutations in ACVR1 in pediatric midline high-grade astrocytoma

Severe Neonatal Presentation of Mitochondrial Citrate Carrier (SLC25A1) Deficiency

Specific combination of compound heterozygous mutations in 17β-hydroxysteroid dehydrogenase type 4 (HSD17B4) defines a new subtype of D-bifunctional protein deficiency

Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events

THEMIS is required for pathogenesis of cerebral malaria and protection against pulmonary tuberculosis

The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome

What can exome sequencing do for you?

Whole exome sequencing identifies the TNNI3K gene as a cause of familial conduction system disease and congenital junctional ectopic tachycardia.

Whole-exome sequencing identifies Coronin-1A deficiency in 3 siblings with immunodeficiency and EBV-associated B-cell lymphoproliferation

Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation.