H. Bolz

发表

An Efficient and Comprehensive Strategy for Genetic Diagnostics of Polycystic Kidney Disease

T. Eisenberger, C. Bergmann, C. Decker, 2015, PloS one.

A TULP1 founder mutation, p.Gln301*, underlies a recognisable congenital rod–cone dystrophy phenotype on the Arabian Peninsula

T. Eisenberger, C. Bergmann, H. Bolz, 2014, British Journal of Ophthalmology.

C8orf37 is mutated in Bardet-Biedl syndrome and constitutes a locus allelic to non-syndromic retinal dystrophies

C. Bergmann, E. Decker, H. Bolz, 2016, Ophthalmic genetics.

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

I. Ebermann, R. Heller, G. Nürnberg, 2013, European Journal of Human Genetics.

Biallelic mutation of human SLC6A6 encoding the taurine transporter TAUT is linked to early retinal degeneration

A. Schnitzler, B. Lorenz, H. Gohlke, 2019, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Comprehensive Geno- and Phenotyping in a Complex Pedigree Including Four Different Inherited Retinal Dystrophies

H. Bolz, F. Holz, J. Birtel, 2020, Genes.

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.

Disease Expression in Autosomal Recessive Retinal Dystrophy Associated With Mutations in the DRAM2 Gene.

P. Charbel Issa, G. Holder, V. Plagnol, 2015, Investigative ophthalmology & visual science.

Reticular Pseudodrusen in Sorsby Fundus Dystrophy.

H. Stöhr, P. Charbel Issa, H. Bolz, 2015, Ophthalmology.

Genetic testing in patients with retinitis pigmentosa: Features of unsolved cases

P. Charbel Issa, M. Knapp, H. Bolz, 2019, Clinical & experimental ophthalmology.

Slow progression of a small Wilms' tumor.

H. Bolz, T. Simon, M. Feldkötter, 2010, Klinische Padiatrie.

Characterization of ADAMTS14, a novel member of the ADAMTS metalloproteinase family.

A. Ramírez, H. Bolz, C. Kubisch, 2001, Biochimica et biophysica acta.

The challenge of defining pathogenicity: the example of AHI1

R. Heller, H. Bolz, 2015, Genetics in Medicine.

Novel mutation in the glycoprotein Ibβ in a patient with Bernard-Soulier syndrome: possibility of distant parental consanguinity.

R. Mahfouz, C. Bergmann, H. Bolz, 2012, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

Novel Mutation in the Glycoprotein Ibβ in a Patient with Bernard-Soulier Syndrome: Possibility of Distant Parental Consanguinity

R. Mahfouz, C. Bergmann, H. Bolz, 2011 .

Phenotypic variability in rippling muscle disease

J. Malin, M. Vorgerd, H. Bolz, 1999, Neurology.

A Specific Macula-Predominant Retinal Phenotype Is Associated With the CDHR1 Variant c.783G>A, a Silent Mutation Leading to In-Frame Exon Skipping.

P. Charbel Issa, R. MacLaren, H. Bolz, 2019, Investigative ophthalmology & visual science.

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

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

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.

Genome‐wide linkage and sequence analysis challenge CCDC66 as a human retinal dystrophy candidate gene and support a distinct NMNAT1‐related fundus phenotype

S. Lenzner, P. Nürnberg, H. Bolz, 2018, Clinical genetics.

Monoallelic ABCA4 Mutations Appear Insufficient to Cause Retinopathy: A Quantitative Autofluorescence Study.

P. Charbel Issa, R. MacLaren, H. Bolz, 2015, Investigative ophthalmology & visual science.

Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes.

H. Stöhr, P. Charbel Issa, H. Bolz, 2015, Investigative ophthalmology & visual science.

Genotype – Phenotype Correlation and Mutation Spectrum in a Large Cohort of Patients With Inherited Retinal Dystrophy Revealed by Next-Generation Sequencing

R. Heller, H. Bolz, 2015 .

Retina Sorsby Fundus Dystrophy : Novel Mutations , Novel Phenotypic Characteristics , and Treatment Outcomes

H. Stöhr, H. Bolz, F. Holz, 2015 .

Retina Monoallelic ABCA 4 Mutations Appear Insufficient to Cause Retinopathy : A Quantitative Autofluorescence Study

R. MacLaren, H. Bolz, F. Holz, 2015 .

Recurrent and Prolonged Infections in a Child with a Homozygous IFIH1 Nonsense Mutation

R. Kaiser, R. Heller, P. Nürnberg, 2017, Front. Genet..

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.

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.

Novel mutations in BCOR in three patients with oculo-facio-cardio-dental syndrome, but none in Lenz microphthalmia syndrome

D. Horn, D. Wieczorek, S. Tinschert, 2005, European Journal of Human Genetics.

NPHP1 gene-associated nephronophthisis is associated with an occult retinopathy.

J. König, H. Bolz, J. Birtel, 2021, Kidney international.

A novel DFNB1 deletion allele supports the existence of a distant cis‐regulatory region that controls GJB2 and GJB6 expression

A. Pandya, H. Kremer, L. Hoefsloot, 2010, Clinical genetics.

Peripapillary Sparing in Autosomal Recessive Bestrophinopathy.

P. Charbel Issa, R. MacLaren, H. Bolz, 2020, Ophthalmology. Retina.

Mutations in WDR19 encoding the intraflagellar transport component IFT144 cause a broad spectrum of ciliopathies

Carsten Bergmann, Martin Pohl, T. Eisenberger, 2014, Pediatric Nephrology.

Clinical utility gene card for: Usher syndrome

H. Bolz, A. Roux, 2011, European Journal of Human Genetics.

Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy

Yang Wang, Monte Westerfield, Carsten Bergmann, 2014, Human mutation.

ANKS 6 is a central component of a nephronophthisis module linking NEK 8 to INVS and NPHP 3

Sophie, R. Roepman, N. Sebire, 2013 .

Mutations in the prostaglandin transporter SLCO2A1 cause primary hypertrophic osteoarthropathy with digital clubbing.

C. Bergmann, V. Frank, H. Bolz, 2012, The Journal of investigative dermatology.

A de novo GLI3 mutation in a patient with acrocallosal syndrome

L. Biesecker, M. Lequin, C. Bergmann, 2013, American journal of medical genetics. Part A.

Expanding the phenotypic spectrum and clinical severity associated with WLS gene

H. Bolz, H. Thiele, G. Abdel-Salam, 2023, Journal of Human Genetics.

Genetic analysis of strictly defined Leber congenital amaurosis with (and without) neurodevelopmental delay

H. Bolz, C. Bergmann, H. Bolz, 2014, British Journal of Ophthalmology.

Olfactory Dysfunction in Patients With CNGB1-Associated Retinitis Pigmentosa

E. Zrenner, P. Charbel Issa, T. Hummel, 2018, JAMA ophthalmology.

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.

Tectonic Complex Impedes Diffusion through the Ciliary Transition Zone to Ensure Proper Sorting of Membrane Proteins

A. Travis, H. Bolz, J. Willer, 2023, bioRxiv.

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

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

TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

Colin A. Johnson, C. Ober, R. Hegele, 2011, American journal of human genetics.

Limited ocular motility in a child with 3q23 microdeletion ("blepharophimosis syndrome plus").

C. Bergmann, H. Bolz, Arif O. Khan, 2014, Journal of pediatric ophthalmology and strabismus.

The tectonic complex regulates membrane protein composition in the photoreceptor cilium.

H. Bolz, S. Biswas, J. Pearring, 2023, Nature communications.

Characterization of Severe Rod-Cone Dystrophy in a Consanguineous Family with a Splice Site Mutation in the MERTK Gene

I. Ebermann, H. Scholl, H. Bolz, 2018 .

GPR98 mutations cause Usher syndrome type 2 in males

E. Zrenner, I. Ebermann, H. Bolz, 2009, Journal of Medical Genetics.

[Inherited retinal diseases in Germany-Challenges in health care supply structure and diagnostics].

H. Bolz, P. Herrmann, F. Bucher, 2023, Die Ophthalmologie.

Slow Progression of a Small Wilms’ Tumor

H. Bolz, M. Feldkötter, K. Buiting, 2010, Klinische Padiatrie.