List of works - Gudrun Nürnberg

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

scientific article

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

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

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

scientific article

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

scientific article

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

scientific article published on 28 August 2017

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

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

scientific article published on 12 September 2013

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

scientific article published on 19 September 2015

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)

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

scientific article published on 11 July 2012

Mutation of POC1B in a severe syndromic retinal ciliopathy

scientific article

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

scientific article published on 6 June 2008

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

scientific article

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

scientific article published on 10 July 2013

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

scientific article

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

scientific article published on 30 August 2012

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

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

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

scientific article published on 23 January 2015

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

scientific article

Mutations in CDK5RAP2 cause Seckel syndrome

scientific article

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

scientific article

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

scientific article published on 30 November 2015

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

scientific journal article

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

A large duplication involving the IHH locus mimics acrocallosal syndrome

scientific article

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

scientific article

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

scientific article

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

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

scientific article published on June 2012

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

scientific article published on 4 February 2009

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

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

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

scientific article published on 8 November 2016

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

scientific article published on 10 June 2017

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

scientific article published on 3 October 2012

List of works by Gudrun Nürnberg

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

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

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

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

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

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

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

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

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

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

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

Mutation of POC1B in a severe syndromic retinal ciliopathy

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

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

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

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

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

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

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

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

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

Mutations in CDK5RAP2 cause Seckel syndrome

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

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

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

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

A large duplication involving the IHH locus mimics acrocallosal syndrome

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

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

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

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

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

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

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

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

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

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