Patrick NITSCHKE | Institut Imagine

Présentation

Patrick NITSCHKE

Bioinformatique

Contact :

01 42 75 43 96

patrick.nitschke@parisdescartes.fr

À propos

Publications scientifiques

Publications

2026

deep intronic variant underlying IPEX., J Hum Immun
2026

ADAR1 loss-of-function variants altering RNA editing define a new interferon-..., Rockefeller University Press
2026

No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/R..., Eur J Immunol
2025

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its St..., Clin Genet
2025

Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity., J Hum Immun
2025

Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series., Lancet Neurol
2025

Deciphering the genetic basis of developmental language disorder in children ..., Mol Autism
2025

Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenes..., J Clin Endocrinol Metab
2024

Targeted RNAseq from patients' urinary cells to validate pathogenic noncoding..., Kidney Int
2024

Comprehensive Genetic Profiling Reveals Frequent Alterations of Driver Genes ..., Cancer Res
2023

Borealin/CDCA8 deficiency alters thyroid development and results in papillary..., Front Endocrinol (Lausanne)
2023

A non-coding variant in the Kozak sequence of RARS2 strongly decreases protei..., Springer Science and Business Media LLC
2023

VNtyper enables accurate alignment-free genotyping of coding VNTR using shor..., iScience
2023

A wave of deep intronic mutations in X-linked Alport syndrome., Kidney Int
2023

A shared pattern of altered gene expression in human embryos affected by mito..., Hum Reprod
2023

Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex comp..., Acta Neuropathol Commun
2022

Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus..., Brain
2022

Complex regulation of Gephyrin splicing is a determinant of inhibitory postsy..., Nat Commun
2022

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with c..., Am J Hum Genet
2021

Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with g..., J Clin Invest
2020

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisph..., Nat Commun
2020

Improving the diagnostic efficiency of primary immunodeficiencies with target..., J Allergy Clin Immunol
2020

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmenta..., Am J Hum Genet
2020

Phenotypic spectrum and transcriptomic profile associated with germline varia..., Genet Med
2019

A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia., J Invest Dermatol
2019

Human C-terminal CUBN variants associate with chronic proteinuria and normal ..., J Clin Invest
2019

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome., Blood
2019

Human IFT52 mutations uncover a novel role for the protein in microtubule dyn..., Hum Mol Genet
2018

TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet ph..., EMBO Mol Med
2018

Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculit..., Nat Genet
2018

Mutations in PERP Cause Dominant and Recessive Keratoderma., J Invest Dermatol
2018

Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and gr..., Eur J Med Genet
2018

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Defici..., J Clin Immunol
2018

Role of in neural stem cell differentiation and neural lineage determination..., Mol Autism
2018

De novo mutation screening in childhood-onset cerebellar atrophy identifies g..., Brain
2018

TLE1, a key player in neurogenesis, a new candidate gene for autosomal recess..., Eur J Med Genet
2018

Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Perox..., Thyroid
2018

Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer., PLoS Negl Trop Dis
2018

Whole-exome sequence analysis highlights the role of unmasked recessive mutat..., Eur J Hum Genet
2018

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegenerati..., Am J Hum Genet
2018

Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency..., Clin Immunol
2017

Type I interferon-mediated autoinflammation due to DNase II deficiency., Nat Commun
2017

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual..., Am J Hum Genet
2017

Functional characterization of tektin-1 in motile cilia and evidence for TEKT..., Hum Mol Genet
2017

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice., Am J Hum Genet
2017

WDR81 mutations cause extreme microcephaly and impair mitotic progression in ..., Brain
2017

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitoch..., Am J Hum Genet
2017

Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event A..., J Clin Immunol
2017

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associa..., Am J Hum Genet
2017

AMPA-receptor specific biogenesis complexes control synaptic transmission and..., Nat Commun
2017

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explan..., Hum Mutat
2017

Targeted Exome Sequencing Identifies as Involved in Monogenic Congenital Ano..., J Am Soc Nephrol
2017

EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state, Wiley
2017

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with ..., Am J Hum Genet
2017

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronop..., Am J Hum Genet
2017

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronop..., Am J Hum Genet
2017

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and a..., Nat Genet
2016

Mutations in BOREALIN cause thyroid dysgenesis., Hum Mol Genet
2016

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis., Hum Mutat
2016

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy., Am J Hum Genet
2016

Utility of whole exome sequencing for the early diagnosis of pediatric-onset ..., Orphanet J Rare Dis
2016

LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis., Clin Immunol
2015

Mutations in NONO lead to syndromic intellectual disability and inhibitory sy..., Nat Neurosci
2015

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule..., Nat Commun
2015

MMP21 is mutated in human heterotaxy and is required for normal left-right as..., Nat Genet
2015

An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, ..., J Allergy Clin Immunol
2015

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ..., Am J Hum Genet
2015

A human immunodeficiency caused by mutations in the PIK3R1 gene., J Clin Invest
2015

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis ..., Am J Hum Genet
2014

Inherited STING-activating mutation underlies a familial inflammatory syndrom..., J Clin Invest
2014

XYLT1 mutations in Desbuquois dysplasia type 2., Am J Hum Genet
2013

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and domin..., Am J Hum Genet
2013

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia., Am J Hum Genet
2012

TCTN3 mutations cause Mohr-Majewski syndrome., Am J Hum Genet
2012

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe ..., Nat Genet
2012

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations., Am J Hum Genet
2011

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes., Nat Genet

Présentation

À propos

Publications scientifiques

deep intronic variant underlying IPEX., J Hum Immun

ADAR1 loss-of-function variants altering RNA editing define a new interferon-..., Rockefeller University Press

No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/R..., Eur J Immunol

Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its St..., Clin Genet

Intronic branchpoint-to-acceptor variants underlying inborn errors of immunity., J Hum Immun

Autoinflammatory encephalopathy due to PTPN1 haploinsufficiency: a case series., Lancet Neurol

Deciphering the genetic basis of developmental language disorder in children ..., Mol Autism

Digenic Inheritance Mode in Congenital Hypothyroidism Due to Thyroid Dysgenes..., J Clin Endocrinol Metab

Targeted RNAseq from patients' urinary cells to validate pathogenic noncoding..., Kidney Int

Comprehensive Genetic Profiling Reveals Frequent Alterations of Driver Genes ..., Cancer Res

Borealin/CDCA8 deficiency alters thyroid development and results in papillary..., Front Endocrinol (Lausanne)

A non-coding variant in the Kozak sequence of RARS2 strongly decreases protei..., Springer Science and Business Media LLC

VNtyper enables accurate alignment-free genotyping of coding VNTR using shor..., iScience

A wave of deep intronic mutations in X-linked Alport syndrome., Kidney Int

A shared pattern of altered gene expression in human embryos affected by mito..., Hum Reprod

Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex comp..., Acta Neuropathol Commun

Neuropathological hallmarks of antenatal mitochondrial diseases with a corpus..., Brain

Complex regulation of Gephyrin splicing is a determinant of inhibitory postsy..., Nat Commun

Recessive PRDM13 mutations cause fatal perinatal brainstem dysfunction with c..., Am J Hum Genet

Dysregulation of the NRG1/ERBB pathway causes a developmental disorder with g..., J Clin Invest

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisph..., Nat Commun

Improving the diagnostic efficiency of primary immunodeficiencies with target..., J Allergy Clin Immunol

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmenta..., Am J Hum Genet

Phenotypic spectrum and transcriptomic profile associated with germline varia..., Genet Med

A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia., J Invest Dermatol

Human C-terminal CUBN variants associate with chronic proteinuria and normal ..., J Clin Invest

EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome., Blood

Human IFT52 mutations uncover a novel role for the protein in microtubule dyn..., Hum Mol Genet

TUBB1 mutations cause thyroid dysgenesis associated with abnormal platelet ph..., EMBO Mol Med

Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculit..., Nat Genet

Mutations in PERP Cause Dominant and Recessive Keratoderma., J Invest Dermatol

Recurrent RTTN mutation leading to severe microcephaly, polymicrogyria and gr..., Eur J Med Genet

A Variety of Alu-Mediated Copy Number Variations Can Underlie IL-12Rβ1 Defici..., J Clin Immunol

Role of in neural stem cell differentiation and neural lineage determination..., Mol Autism

De novo mutation screening in childhood-onset cerebellar atrophy identifies g..., Brain

TLE1, a key player in neurogenesis, a new candidate gene for autosomal recess..., Eur J Med Genet

Thyroid Hypoplasia in Congenital Hypothyroidism Associated with Thyroid Perox..., Thyroid

Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer., PLoS Negl Trop Dis

Whole-exome sequence analysis highlights the role of unmasked recessive mutat..., Eur J Hum Genet

Impaired Transferrin Receptor Palmitoylation and Recycling in Neurodegenerati..., Am J Hum Genet

Pediatric-onset Evans syndrome: Heterogeneous presentation and high frequency..., Clin Immunol

Type I interferon-mediated autoinflammation due to DNase II deficiency., Nat Commun

A Recurrent De Novo Nonsense Variant in ZSWIM6 Results in Severe Intellectual..., Am J Hum Genet

Functional characterization of tektin-1 in motile cilia and evidence for TEKT..., Hum Mol Genet

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice., Am J Hum Genet

WDR81 mutations cause extreme microcephaly and impair mitotic progression in ..., Brain

FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitoch..., Am J Hum Genet

Neutropenia in Patients with Common Variable Immunodeficiency: a Rare Event A..., J Clin Immunol

Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associa..., Am J Hum Genet

AMPA-receptor specific biogenesis complexes control synaptic transmission and..., Nat Commun

A RAB27A duplication in several cases of Griscelli syndrome type 2: An explan..., Hum Mutat

Targeted Exome Sequencing Identifies as Involved in Monogenic Congenital Ano..., J Am Soc Nephrol

EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state, Wiley

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with ..., Am J Hum Genet

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronop..., Am J Hum Genet

Mutations in MAPKBP1 Cause Juvenile or Late-Onset Cilia-Independent Nephronop..., Am J Hum Genet

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and a..., Nat Genet

Mutations in BOREALIN cause thyroid dysgenesis., Hum Mol Genet

DCDC2 Mutations Cause Neonatal Sclerosing Cholangitis., Hum Mutat

Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy., Am J Hum Genet

Utility of whole exome sequencing for the early diagnosis of pediatric-onset ..., Orphanet J Rare Dis

LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis., Clin Immunol

Mutations in NONO lead to syndromic intellectual disability and inhibitory sy..., Nat Neurosci

Mutations in TRAF3IP1/IFT54 reveal a new role for IFT proteins in microtubule..., Nat Commun

MMP21 is mutated in human heterotaxy and is required for normal left-right as..., Nat Genet

An in vivo genetic reversion highlights the crucial role of Myb-Like, SWIRM, ..., J Allergy Clin Immunol

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus ..., Am J Hum Genet

A human immunodeficiency caused by mutations in the PIK3R1 gene., J Clin Invest

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis ..., Am J Hum Genet

Inherited STING-activating mutation underlies a familial inflammatory syndrom..., J Clin Invest

XYLT1 mutations in Desbuquois dysplasia type 2., Am J Hum Genet

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and domin..., Am J Hum Genet

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia., Am J Hum Genet

TCTN3 mutations cause Mohr-Majewski syndrome., Am J Hum Genet

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe ..., Nat Genet

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations., Am J Hum Genet

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes., Nat Genet