C. Neuhaus

发表

Extension of the clinical and molecular phenotype of DIAPH1‐associated autosomal dominant hearing loss (DFNA1)

U. Zimmermann, M. Knipper, H. Bolz, 2017, Clinical genetics.

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

J. Al-Aama, B. Lorenz, T. Neuhann, 2013, PloS one.

Correlating Adaptive Optics Images to Clinical Findings in Juvenile Macular Dystrophy with Hypotrichosis in Siblings with Homozygous CDH3 Pathogenic Variation

E. Zrenner, H. Stöhr, B. Weber, 2020, Ophthalmic Research.

Retina Novel Insights Into the Phenotypical Spectrum of KIF 11-Associated Retinopathy , Including a New Form of Retinal Ciliopathy

U. Wolfrum, C. Neuhaus, H. Bolz, 2017 .

Novel Insights Into the Phenotypical Spectrum of KIF11-Associated Retinopathy, Including a New Form of Retinal Ciliopathy.

U. Wolfrum, P. Charbel Issa, C. Neuhaus, 2017, Investigative ophthalmology & visual science.

North Carolina macular dystrophy shows a particular drusen phenotype and atrophy progression

P. Charbel Issa, C. Neuhaus, R. MacLaren, 2021, British Journal of Ophthalmology.

Congenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F

C. Neuhaus, C. Bergmann, Patrik Schatz, 2018, Ophthalmic genetics.

Clinical utility gene card for: von Hippel–Lindau (VHL)

H. Brauch, C. Neuhaus, E. Maher, 2013, European Journal of Human Genetics.

Increased frequency of a null-allele for NAD(P)H: quinone oxidoreductase in patients with urological malignancies.

T. Ebert, W. Schulz, C. Neuhaus, 1997, Pharmacogenetics.

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

E. Becirovic, H. Bolz, C. Neuhaus, 2017, Scientific Reports.

Allelic losses at chromosomes 1p, 2p, 6p, 10p, 13q, 17p, and 21q significantly correlate with the chromophobe subtype of renal cell carcinoma.

H. Brauch, C. Neuhaus, C. Huber, 1996, Cancer research.

A C-terminal nonsense mutation links PTPRQ with autosomal-dominant hearing loss, DFNA73

H. Bolz, C. Neuhaus, T. Eisenberger, 2017, Genetics in Medicine.

[Multimodal diagnostic of CSNB1 with NYX gene mutation].

H. Stöhr, C. Neuhaus, N. Bechrakis, 2019, Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft.

Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa

S. Lenzner, P. Charbel Issa, C. Neuhaus, 2018, PloS one.

Next‐generation sequencing reveals the mutational landscape of clinically diagnosed Usher syndrome: copy number variations, phenocopies, a predominant target for translational read‐through, and PEX26 mutated in Heimler syndrome

B. Lorenz, H. Stöhr, P. Charbel Issa, 2017, Molecular genetics & genomic medicine.

Targeted and Genomewide NGS Data Disqualify Mutations in MYO1A, the “DFNA48 Gene”, as a Cause of Deafness

C. Neuhaus, T. Eisenberger, C. Bergmann, 2014, Human mutation.

A Distinct Vitreo-retinal Dystrophy with Early-onset Cataract from Recessive KCNJ13 Mutations

H. Bolz, C. Neuhaus, C. Bergmann, 2015, Ophthalmic genetics.

VHL alterations in human clear cell renal cell carcinoma: association with advanced tumor stage and a novel hot spot mutation.

P. Schirmacher, H. Brauch, S. Pomer, 2000, Cancer research.

Detection of a germline mutation and somatic homozygous loss of the von Hippel-Lindau tumor-suppressor gene in a family with a de novo mutation

A. Jauch, B. Seliger, H. Brauch, 1996, Human Genetics.

Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy

S. Lenzner, P. Charbel Issa, C. Neuhaus, 2018, Scientific Reports.

Choroidal Flow Signal in Late-Onset Stargardt Disease and Age-Related Macular Degeneration: An OCT-Angiography Study.

H. Stöhr, C. Neuhaus, F. Holz, 2018, Investigative ophthalmology & visual science.

Long-term follow-up of retinal function and structure in TRPM1-associated complete congenital stationary night blindness

C. Neuhaus, C. Bergmann, Patrik Schatz, 2019, Molecular vision.

Extended mutation spectrum of Usher syndrome in Finland

E. Sankila, C. Neuhaus, C. Bergmann, 2013, Acta ophthalmologica.

Involvement of the chromosomal region 11q13 in renal oncocytoma: case report and literature review.

E. van den Berg, M. Stöckle, C. Neuhaus, 1997, Cancer genetics and cytogenetics.

Pre- and post-natal growth in two sisters with 3-M syndrome.

C. Neuhaus, A. Percesepe, A. Elmakky, 2016, European journal of medical genetics.

Mutation screening in the DHCR7 gene of patients with attention deficit and hyperactivity disorder.

C. Neuhaus, G. Utermann, M. Witsch-Baumgartner, 2001, American journal of medical genetics.

Severe retinitis pigmentosa phenotype associated with novel CNGB1 variants

S. Lenzner, C. Neuhaus, Patrik Schatz, 2020, American journal of ophthalmology case reports.

Peripherin mutations cause a distinct form of recessive Leber congenital amaurosis and dominant phenotypes in asymptomatic parents heterozygous for the mutation

H. Bolz, C. Neuhaus, C. Bergmann, 2015, British Journal of Ophthalmology.

Heterozygous mutation in OTX2 associated with early-onset retinal dystrophy with atypical maculopathy

C. Neuhaus, Arif O. Khan, Patrik Schatz, 2017, Molecular vision.

First Cases of Dominant Optic Atrophy in Saudi Arabia: Report of Two Novel OPA1 Mutations

C. Neuhaus, C. Bergmann, H. Bolz, 2013, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

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

E. Becirovic, H. Bolz, C. Neuhaus, 2017, Scientific Reports.

Choroidal Flow Signal in Late-Onset Stargardt Disease and Age-Related Macular Degeneration: An OCT-Angiography Study.

H. Stöhr, C. Neuhaus, F. Holz, 2018, Investigative ophthalmology & visual science.