List of works - Bernhard H Weber

Seven new loci associated with age-related macular degeneration

scientific article

Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk

scientific article

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

scientific article published on 21 December 2015

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

scientific article published on 01 July 1998

Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA

scientific article

Positional cloning of the gene associated with X-linked juvenile retinoschisis

scientific article published on October 1, 1997

Systemic complement activation in age-related macular degeneration

scientific article

Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)

scientific article published on 01 September 1998

A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

scientific article published on 24 August 2000

TMEM16B, a novel protein with calcium-dependent chloride channel activity, associates with a presynaptic protein complex in photoreceptor terminals

scientific article

An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD)

scientific article

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

scientific article

Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure

scientific article

Translocator protein (18 kDa) (TSPO) is expressed in reactive retinal microglia and modulates microglial inflammation and phagocytosis

scientific article published on 08 January 2014

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

scientific article published on 15 September 2013

X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.

scientific article published on 3 January 2012

Association of LOXL1 common sequence variants in German and Italian patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma

scientific article published on 01 April 2008

Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma

scientific article

Genomic organization of claudin-1 and its assessment in hereditary and sporadic breast cancer

scientific journal article

An update on the genetics of age-related macular degeneration.

scientific article published on 7 February 2007

A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk

scientific article published on 18 November 2009

Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells.

scientific article

Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family

scientific article (publication date: April 2002)

Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease

scientific article published on 01 January 1998

Modelling the genetic risk in age-related macular degeneration.

scientific article

Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people

scientific article

Disease-associated missense mutations in bestrophin-1 affect cellular trafficking and anion conductance.

scientific article

Cloning and characterization of the murine Vmd2 RFP-TM gene family.

scientific article

Evaluation of DHPLC in the analysis of hemophilia A.

scientific article published in January 2001

Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

scientific article published on January 2017

A Subgroup of Age-Related Macular Degeneration is Associated With Mono-Allelic Sequence Variants in theABCA4Gene

scientific article published on April 30, 2012

Lipofuscin- and melanin-related fundus autofluorescence visualize different retinal pigment epithelial alterations in patients with retinitis pigmentosa.

scientific article

Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation

scientific article published on 04 July 2002

Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency.

scientific article

Genomic organization and complete sequence of the human gene encoding the β-subunit of the cGMP phosphodiesterase and its localisation to 4p16.3

scientific article published on 25 November 1991

Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype.

scientific article published in March 2004

Evolution and functional divergence of the anoctamin family of membrane proteins

scientific article

Complement regulation at necrotic cell lesions is impaired by the age-related macular degeneration-associated factor-H His402 risk variant

scientific article published on 19 September 2011

Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane

scientific article published on 15 November 2006

Localization of a Gene (CORD7) for a Dominant Cone-Rod Dystrophy to Chromosome 6q

scientific article published on July 1, 1998

Abnormal vessel formation in the choroid of mice lacking tissue inhibitor of metalloprotease-3.

scientific article

ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.

scientific article published on 7 November 2007

Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter

scientific article (publication date: June 1994)

Characterization and organization of DNA sequences adjacent to the human telomere associated repeat (TTAGGG)n.

scientific article published in June 1990

Hereditary X-linked juvenile retinoschisis: a review of the role of Müller cells.

scientific article

In-depth characterisation of Retinal Pigment Epithelium (RPE) cells derived from human induced pluripotent stem cells (hiPSC).

scientific article

Frequency of BRCA1 mutation 5382insC in German breast cancer patients.

scientific article

A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features

scientific article published on 01 December 1995

SNPs in ultraconserved elements and familial breast cancer risk

scientific article published on 03 January 2008

Genome-wide expression profiling of the retinoschisin-deficient retina in early postnatal mouse development.

scientific article published in February 2007

List of works by Bernhard H Weber

Seven new loci associated with age-related macular degeneration

Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness

Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA

Positional cloning of the gene associated with X-linked juvenile retinoschisis

Systemic complement activation in age-related macular degeneration

Mutations in a novel gene, VMD2, encoding a protein of unknown properties cause juvenile-onset vitelliform macular dystrophy (Best's disease)

A comprehensive survey of sequence variation in the ABCA4 (ABCR) gene in Stargardt disease and age-related macular degeneration.

TMEM16B, a novel protein with calcium-dependent chloride channel activity, associates with a presynaptic protein complex in photoreceptor terminals

An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD)

Characterization of ATM gene mutations in 66 ataxia telangiectasia families.

Inactivation of the murine X-linked juvenile retinoschisis gene, Rs1h, suggests a role of retinoschisin in retinal cell layer organization and synaptic structure

Translocator protein (18 kDa) (TSPO) is expressed in reactive retinal microglia and modulates microglial inflammation and phagocytosis

Identification of a rare coding variant in complement 3 associated with age-related macular degeneration

X-linked juvenile retinoschisis: clinical diagnosis, genetic analysis, and molecular mechanisms.

Association of LOXL1 common sequence variants in German and Italian patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma

Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma

Genomic organization of claudin-1 and its assessment in hereditary and sporadic breast cancer

An update on the genetics of age-related macular degeneration.

A genetic variant in the pre-miR-27a oncogene is associated with a reduced familial breast cancer risk

Bestrophin 1 is indispensable for volume regulation in human retinal pigment epithelium cells.

Three novel human VMD2-like genes are members of the evolutionary highly conserved RFP-TM family

Mapping of the rod photoreceptor ABC transporter (ABCR) to 1p21-p22.1 and identification of novel mutations in Stargardt's disease

Modelling the genetic risk in age-related macular degeneration.

Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people

Disease-associated missense mutations in bestrophin-1 affect cellular trafficking and anion conductance.

Cloning and characterization of the murine Vmd2 RFP-TM gene family.

Evaluation of DHPLC in the analysis of hemophilia A.

Mutation Spectrum of the ABCA4 Gene in 335 Stargardt Disease Patients From a Multicenter German Cohort-Impact of Selected Deep Intronic Variants and Common SNPs.

A Subgroup of Age-Related Macular Degeneration is Associated With Mono-Allelic Sequence Variants in theABCA4Gene

Lipofuscin- and melanin-related fundus autofluorescence visualize different retinal pigment epithelial alterations in patients with retinitis pigmentosa.

Phenotypes of 16 Stargardt macular dystrophy/fundus flavimaculatus patients with known ABCA4 mutations and evaluation of genotype-phenotype correlation

Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency.

Genomic organization and complete sequence of the human gene encoding the β-subunit of the cGMP phosphodiesterase and its localisation to 4p16.3

Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype.

Evolution and functional divergence of the anoctamin family of membrane proteins

Complement regulation at necrotic cell lesions is impaired by the age-related macular degeneration-associated factor-H His402 risk variant

Insertion and topology of normal and mutant bestrophin-1 in the endoplasmic reticulum membrane

Localization of a Gene (CORD7) for a Dominant Cone-Rod Dystrophy to Chromosome 6q

Abnormal vessel formation in the choroid of mice lacking tissue inhibitor of metalloprotease-3.

ERG variability in X-linked congenital retinoschisis patients with mutations in the RS1 gene and the diagnostic importance of fundus autofluorescence and OCT.

Sorsby's fundus dystrophy is genetically linked to chromosome 22q13-qter

Characterization and organization of DNA sequences adjacent to the human telomere associated repeat (TTAGGG)n.

Hereditary X-linked juvenile retinoschisis: a review of the role of Müller cells.

In-depth characterisation of Retinal Pigment Epithelium (RPE) cells derived from human induced pluripotent stem cells (hiPSC).

Frequency of BRCA1 mutation 5382insC in German breast cancer patients.

A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features

SNPs in ultraconserved elements and familial breast cancer risk

Genome-wide expression profiling of the retinoschisin-deficient retina in early postnatal mouse development.