List of works - Julia Hoefele

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

scientific article

A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome ⬇️

scientific article published on January 31, 2012

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

scientific article published on 8 July 2013

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

scientific article published on 28 April 2020

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

scientific article published on 19 December 2019

Expanding the mutation spectrum for Fraser syndrome: Identification of a novel heterozygous deletion in FRAS1 ⬇️

scientific article published on March 6, 2013

Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS

scientific article published on 04 September 2020

Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36

scientific article

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

scientific article (publication date: August 2003)

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

scientific article

Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome ⬇️

scientific article published on May 31, 2013

Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency

scientific article published in 2022

Precise variant interpretation, phenotype ascertainment and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial

scientific article published on 11 October 2020

Reduced Methotrexate Clearance and Renal Impairment in a Boy With Osteosarcoma and Earlier Undetected Autosomal Dominant Polycystic Kidney Disease (ADPKD) ⬇️

scientific article published on November 1, 2010

Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis

scientific article published in 2022

Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy

scientific article published in 2022

List of works by Julia Hoefele

A gene mutated in nephronophthisis and retinitis pigmentosa encodes a novel protein, nephroretinin, conserved in evolution

A novel interstitial deletion of 10q24.2q24.32 in a patient with renal coloboma syndrome ⬇️

ARHGDIA mutations cause nephrotic syndrome via defective RHO GTPase signaling

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome

Expanding the mutation spectrum for Fraser syndrome: Identification of a novel heterozygous deletion in FRAS1 ⬇️

Identification of disease-causing variants by comprehensive genetic testing with exome sequencing in adults with suspicion of hereditary FSGS

Mapping of gene loci for nephronophthisis type 4 and Senior-Løken syndrome, to chromosome 1p36

Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination

Mutations in a novel gene, NPHP3, cause adolescent nephronophthisis, tapeto-retinal degeneration and hepatic fibrosis

Next generation sequencing as a useful tool in the diagnostics of mosaicism in Alport syndrome ⬇️

Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency

Precise variant interpretation, phenotype ascertainment and genotype-phenotype correlation of children in the EARLY PRO-TECT Alport trial

Reduced Methotrexate Clearance and Renal Impairment in a Boy With Osteosarcoma and Earlier Undetected Autosomal Dominant Polycystic Kidney Disease (ADPKD) ⬇️

Refining Kidney Survival in 383 Genetically Characterized Patients With Nephronophthisis

Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy