List of works - Gudrun Nürnberg

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

scientific article published on 3 May 2017

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy

scientific article

A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly

scientific article published on 30 August 2012

A large duplication involving the IHH locus mimics acrocallosal syndrome

scientific article

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

scientific article

A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss

scientific article

A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats

scientific article

A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness

scientific article published on 4 February 2009

A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family

scientific article published on 30 November 2015

A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype

scientific article

A systematic approach to mapping recessive disease genes in individuals from outbred populations

scientific article

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function

scientific article

AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance

scientific article published on 10 June 2017

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

scientific article published on 10 July 2013

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

scientific article

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

scientific article

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

scientific article

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

scientific article

Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression ⬇️

scientific article published on November 1, 2010

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

scientific article

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects

scientific article

Dysfunction of the MDM2/p53 axis is linked to premature aging

scientific article published on 28 August 2017

Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry

scientific article published on May 2013

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

scientific article

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

scientific article

Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11

scientific article

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

scientific article

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure

scientific article

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene

scientific article

Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects

scientific article published on 3 October 2012

Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome

scientific article

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts

scientific article

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.

scientific article published on 15 April 2011

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

scientific article

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing

scientific article published on 6 June 2008

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies

scientific article

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

scientific article

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

scientific article

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome

scientific article

Linkage and Association Analysis Identifies TRAF1 Influencing Common Carotid Intima-Media Thickness

scientific article published on 8 November 2016

Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness

scientific article

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

scientific journal article

Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease

scientific article

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

scientific article

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

scientific article

Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12.

scientific article published on June 2012

Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia

scientific article (publication date: 17 May 2002)

Mutation of POC1B in a severe syndromic retinal ciliopathy

scientific article

Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria

scientific article

Mutations in CDK5RAP2 cause Seckel syndrome

scientific article

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

scientific article

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

scientific article

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction

scientific article published on 12 September 2013

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

scientific article

Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression

scientific article

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

scientific article

Mutations in PYCR1 cause cutis laxa with progeroid features

scientific article

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin

scientific article

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

scientific article

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

scientific article

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss

scientific article

Mutations in different components of FGF signaling in LADD syndrome

scientific article

Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis

scientific article published on 20 January 2017

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene

scientific article published on 23 January 2015

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

scientific article

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss

scientific article

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

scientific article published on 11 July 2012

OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).

scientific article

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

scientific article

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly

scientific journal article

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

scientific article

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry

scientific article

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability

scientific article published on 03 July 2013

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

scientific article

Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mapping.

scientific article

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies

scientific article

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

scientific article published on 19 September 2015

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

scientific article

Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling

scientific article

The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4

scientific article

The nexin-dynein regulatory complex subunit DRC1 is essential for motile cilia function in algae and humans

scientific article

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction

scientific article

Update of the effect estimates for common variants associated with carotid intima media thickness within four independent samples: The Bonn IMT Family Study, the Heinz Nixdorf Recall Study, the SAPHIR Study and the Bruneck Study

scientific article

WRN mutations in Werner syndrome patients: genomic rearrangements, unusual intronic mutations and ethnic-specific alterations

scientific article

Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies

scientific article

eIF2γ mutation that disrupts eIF2 complex integrity links intellectual disability to impaired translation initiation

scientific article

tRNA splicing endonuclease mutations cause pontocerebellar hypoplasia

scientific article

List of works by Gudrun Nürnberg

A deep intronic CLRN1 (USH3A) founder mutation generates an aberrant exon and underlies severe Usher syndrome on the Arabian Peninsula

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy

A homozygous splice site mutation in TRAPPC9 causes intellectual disability and microcephaly

A large duplication involving the IHH locus mimics acrocallosal syndrome

A missense mutation in the PISA domain of HsSAS-6 causes autosomal recessive primary microcephaly in a large consanguineous Pakistani family

A mutation in PNPT1, encoding mitochondrial-RNA-import protein PNPase, causes hereditary hearing loss

A mutation in the signal sequence of LRP5 in a family with an osteoporosis-pseudoglioma syndrome (OPPG)-like phenotype indicates a novel disease mechanism for trinucleotide repeats

A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness

A novel homozygous splicing mutation of CASC5 causes primary microcephaly in a large Pakistani family

A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype

A systematic approach to mapping recessive disease genes in individuals from outbred populations

A truncating mutation of CEP135 causes primary microcephaly and disturbed centrosomal function

AUNA2: A Novel Type of Non-Syndromic Slowly Progressive Auditory Synaptopathy/Auditory Neuropathy with Autosomal-Dominant Inheritance

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

Cerebral arterial stenoses and stroke: novel features of Aicardi-Goutières syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression ⬇️

Deficiency for the ubiquitin ligase UBE3B in a blepharophimosis-ptosis-intellectual-disability syndrome

Deletions and point mutations of LRRC50 cause primary ciliary dyskinesia due to dynein arm defects

Dysfunction of the MDM2/p53 axis is linked to premature aging

Ethnic-Specific WRN Mutations in South Asian Werner Syndrome Patients: Potential Founder Effect in Patients with Indian or Pakistani Ancestry

Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling

Exome sequencing and CRISPR/Cas genome editing identify mutations of ZAK as a cause of limb defects in humans and mice

Familial hemophagocytic lymphohistiocytosis type 5 (FHL-5) is caused by mutations in Munc18-2 and impaired binding to syntaxin 11

Faulty initiation of proteoglycan synthesis causes cardiac and joint defects

Frank-ter Haar syndrome associated with sagittal craniosynostosis and raised intracranial pressure

Frontorhiny, a distinctive presentation of frontonasal dysplasia caused by recessive mutations in the ALX3 homeobox gene

Genome-wide linkage analysis is a powerful prenatal diagnostic tool in families with unknown genetic defects

Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome

Identification of a novel LCA5 mutation in a Pakistani family with Leber congenital amaurosis and cataracts

Identification of a novel candidate gene for non-syndromic autosomal recessive intellectual disability: the WASH complex member SWIP.

Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing

Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies

Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy

Inhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure

LRP4 mutations alter Wnt/beta-catenin signaling and cause limb and kidney malformations in Cenani-Lenz syndrome

Linkage and Association Analysis Identifies TRAF1 Influencing Common Carotid Intima-Media Thickness

Loss of Ca(v)1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness

Loss of GLIS2 causes nephronophthisis in humans and mice by increased apoptosis and fibrosis

Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease

Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia

Loss-of-function mutations of ILDR1 cause autosomal-recessive hearing impairment DFNB42

Microcephaly-thin corpus callosum syndrome maps to 8q23.2-q24.12.

Mutation in the ARH gene and a chromosome 13q locus influence cholesterol levels in a new form of digenic-recessive familial hypercholesterolemia

Mutation of POC1B in a severe syndromic retinal ciliopathy

Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucosuria

Mutations in CDK5RAP2 cause Seckel syndrome

Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome

Mutations in FAM134B, encoding a newly identified Golgi protein, cause severe sensory and autonomic neuropathy

Mutations in GMPPA cause a glycosylation disorder characterized by intellectual disability and autonomic dysfunction

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics

Mutations in NEK8 link multiple organ dysplasia with altered Hippo signalling and increased c-MYC expression

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

Mutations in PYCR1 cause cutis laxa with progeroid features

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin

Mutations in SPRTN cause early onset hepatocellular carcinoma, genomic instability and progeroid features

Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss

Mutations in different components of FGF signaling in LADD syndrome

Neurocalcin Delta Suppression Protects against Spinal Muscular Atrophy in Humans and across Species by Restoring Impaired Endocytosis

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency

Nonsense mutations in SMPX, encoding a protein responsive to physical force, result in X-chromosomal hearing loss

Novel findings in patients with primary hyperoxaluria type III and implications for advanced molecular testing strategies

OSBPL2 encodes a protein of inner and outer hair cell stereocilia and is mutated in autosomal dominant hearing loss (DFNA67).

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome

PEX6 is Expressed in Photoreceptor Cilia and Mutated in Deafblindness with Enamel Dysplasia and Microcephaly

Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible

Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry

Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability

Recessive mutations in DGKE cause atypical hemolytic-uremic syndrome

Refinement of the MYP3 locus on human chromosome 12 in a German family with Mendelian autosomal dominant high-grade myopia by SNP array mapping.

Seeing clearly: the dominant and recessive nature of FOXE3 in eye developmental anomalies

TALPID3 controls centrosome and cell polarity and the human ortholog KIAA0586 is mutated in Joubert syndrome (JBTS23)

Targeted next-generation sequencing identifies a homozygous nonsense mutation in ABHD12, the gene underlying PHARC, in a family clinically diagnosed with Usher syndrome type 3

Temtamy preaxial brachydactyly syndrome is caused by loss-of-function mutations in chondroitin synthase 1, a potential target of BMP signaling