List of works - Patrick Nitschké

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

scientific article

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

scientific article

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

scientific article published on 21 April 2013

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

scientific article

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

scientific article

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

scientific article

Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations

scientific article

FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.

scientific article

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

scientific article published on 14 December 2011

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

scientific article

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

scientific article

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

scientific article

A human immunodeficiency caused by mutations in the PIK3R1 gene

scientific article

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

scientific article

The human gene damage index as a gene-level approach to prioritizing exome variants

scientific article

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability

scientific article

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

scientific article

TCTN3 mutations cause Mohr-Majewski syndrome

scientific article

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis

scientific article

Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation

scientific article published on December 2009

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

scientific article published on 9 January 2013

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

Improving mutation screening in familial hematuric nephropathies through next generation sequencing

scientific article

A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency

scientific article published on 2 October 2013

LMX1B mutations cause hereditary FSGS without extrarenal involvement

scientific article published on 16 May 2013

The human gene connectome as a map of short cuts for morbid allele discovery

scientific article published on 18 March 2013

Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency

scientific article

XYLT1 mutations in Desbuquois dysplasia type 2.

scientific article published on 27 February 2014

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

scientific article

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears

scientific article

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

scientific article published on 9 July 2015

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

scientific article published on 17 April 2017

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

scientific article

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

scientific article published on 17 December 2013

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

scientific article

LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis

scientific article

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

scientific article

RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

scientific article published on 13 April 2011

Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency

scientific article

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia

scientific article

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia

scientific article

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome")

scientific article

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance

scientific article

AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

scientific article

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

scientific article published on 6 March 2017

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

scientific article published on 30 March 2016

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

scientific article published on 23 September 2015

Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome

scientific article published on 29 October 2018

A human immunodeficiency caused by mutations in the PIK3R1 gene

article

List of works by Patrick Nitschké

Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis

De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19

Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations

FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man.

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survival

Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans

KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

A human immunodeficiency caused by mutations in the PIK3R1 gene

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

The human gene damage index as a gene-level approach to prioritizing exome variants

Human RTEL1 deficiency causes Hoyeraal-Hreidarsson syndrome with short telomeres and genome instability

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

TCTN3 mutations cause Mohr-Majewski syndrome

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis

Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation

ALDH1A3 mutations cause recessive anophthalmia and microphthalmia

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

Improving mutation screening in familial hematuric nephropathies through next generation sequencing

A Mendelian predisposition to B-cell lymphoma caused by IL-10R deficiency

LMX1B mutations cause hereditary FSGS without extrarenal involvement

The human gene connectome as a map of short cuts for morbid allele discovery

Mutation in PNPT1, which encodes a polyribonucleotide nucleotidyltransferase, impairs RNA import into mitochondria and causes respiratory-chain deficiency

XYLT1 mutations in Desbuquois dysplasia type 2.

A homozygous missense mutation in the ciliary gene TTC21B causes familial FSGS

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome

Inherited GINS1 deficiency underlies growth retardation along with neutropenia and NK cell deficiency

Mutations in NONO lead to syndromic intellectual disability and inhibitory synaptic defects

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

LRBA deficiency with autoimmunity and early onset chronic erosive polyarthritis

Characterisation of mutations of the phosphoinositide-3-kinase regulatory subunit, PIK3R2, in perisylvian polymicrogyria: a next-generation sequencing study

RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiency

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia

Mutations in the endothelin receptor type A cause mandibulofacial dysostosis with alopecia

Polymerase ε1 mutation in a human syndrome with facial dysmorphism, immunodeficiency, livedo, and short stature ("FILS syndrome")

HGCS: an online tool for prioritizing disease-causing gene variants by biological distance

AMPA-receptor specific biogenesis complexes control synaptic transmission and intellectual ability

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies

Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

Germline HAVCR2 mutations altering TIM-3 characterize subcutaneous panniculitis-like T cell lymphomas with hemophagocytic lymphohistiocytic syndrome

A human immunodeficiency caused by mutations in the PIK3R1 gene

RPL10mutation segregating in a family with X-linked syndromic Intellectual Disability