H. Bolz

H. Bolz, C. Bergmann, Arif O. Khan, 2014, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Usher syndrome: diagnostic approach, differential diagnoses and proposal of an updated function-based genetic classification

H. Bolz, 2020, Medizinische Genetik.

Analysis of MYO7A in a Moroccan family with Usher syndrome type 1B: novel loss-of-function mutation and non-pathogenicity of p.Y1719C.

H. Bolz, Yun Li, B. Wollnik, 2007, Molecular vision.

Identification and in vitro expression of novel CDH23 mutations of patients with Usher syndrome type 1D

B. Lorenz, H. Bolz, E. Schwinger, 2002, Human mutation.

Role of Sphingosine-1-Phosphate Phosphohydrolase 1 in the Regulation of Resistance Artery Tone

S. Spiegel, H. Bolz, S. Heximer, 2008, Circulation research.

Connexin 26 ( GJB2 ) mutation in KID syndrome: An Egyptian patient

H. Bolz, S. Elsayed, Neveen S. Seifeldeen, 2011 .

Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing

M. Seeliger, E. Zrenner, I. Ebermann, 2008, Human mutation.

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

T. Langmann, H. Stöhr, H. Bolz, 2022, bioRxiv.

Bardet-Biedl-Syndrom – Diagnose und klinischer Verlauf

H. Bolz, K. Rohrschneider, 2020, Klinische Monatsblätter für Augenheilkunde.

A novel large in-frame FBN1 deletion causes neonatal Marfan syndrome

H. Bolz, B. Wittekindt, U. Zechner, 2022, Cold Spring Harbor molecular case studies.

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

U. Wolfrum, H. Bolz, K. Nagel-Wolfrum, 2016, Human mutation.

No mutation in the gene for Noonan syndrome, PTPN11, in 18 patients with Costello syndrome

H. Bolz, D. Wieczorek, K. Kutsche, 2003, American journal of medical genetics. Part A.

Basics of Disorders of Hearing Development

R. Schönweiler, H. Bolz, E. Seemanová, 2019 .

KCND2 variants associated with global developmental delay differentially impair Kv4.2 channel gating.

H. Rehm, H. Lerche, H. Bolz, 2021, Human molecular genetics.

The supposed tumor suppressor gene WWOX is mutated in an early lethal microcephaly syndrome with epilepsy, growth retardation and retinal degeneration

H. Bolz, Daniel Swan, G. Abdel-Salam, 2014, Orphanet Journal of Rare Diseases.

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

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

Diagnostic Analyses of Retinal Dystrophy Genes: Current Status and Perspective

H. Bolz, 2021, Klinische Monatsblätter für Augenheilkunde.

Herausforderungen und Fallstricken zum Trotz: Wie die Ophthal-mologie von Next-Generation Sequencing profitiert Despite Challenges and Pitfalls: How Ophthalmology Benefits from the Use of Next-Generation Sequencing

H. Bolz, 2018 .

Truncating mutation of the DFNB59 gene causes cochlear hearing impairment and central vestibular dysfunction

I. Ebermann, H. Scholl, H. Bolz, 2007, Human mutation.

PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome.

Monte Westerfield, Peter Nürnberg, Bernhard Schermer, 2010, The Journal of clinical investigation.

Role of cadherins in Ca2+-mediated cell adhesion and inherited photoreceptor degeneration.

U. Wolfrum, H. Bolz, J. Reiners, 2002, Advances in experimental medicine and biology.

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.

Mutation of CDH23, encoding a new member of the cadherin gene family, causes Usher syndrome type 1D

M. Seeliger, H. Bolz, A. Ramírez, 2001, Nature genetics.

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

K. Steel, M. Ptok, U. Zimmermann, 2015, Orphanet Journal of Rare Diseases.

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

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

Results of fibrillin-1 gene analysis in children from inbred families with lens subluxation.

H. Bolz, C. Bergmann, Arif O. Khan, 2014, Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus.

Combined NGS Approaches Identify Mutations in the Intraflagellar Transport Gene IFT140 in Skeletal Ciliopathies with Early Progressive Kidney Disease

M. Hurles, P. Scambler, T. Neuhann, 2013, Human mutation.

Sequence variants of the DFNB31 gene among Usher syndrome patients of diverse origin

C. Cremers, F. Kersten, E. van Wijk, 2010, Molecular vision.

Two truncating USH3A mutations, including one novel, in a German family with Usher syndrome.

E. Zrenner, I. Ebermann, H. Bolz, 2007, Molecular vision.

Loss of Cav1.3 (CACNA1D) function in a human channelopathy with bradycardia and congenital deafness

H. Bolz, A. Koschak, S. Baig, 2011, Nature Neuroscience.

Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa.

H. Bolz, S. Mathavan, U. Fischer, 2011, Human molecular genetics.

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

H. Bolz, G. Nürnberg, P. Nürnberg, 2011, Molecular vision.

Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels

H. Bolz, A. Koschak, J. Striessnig, 2010, Pflügers Archiv - European Journal of Physiology.

Basics of Related Medical Disciplines

H. Bolz, K. Zerres, E. Seemanová, 2019 .

Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis (XLRS)

P. Sieving, A. Ballabio, T. Rosenberg, 1998 .

Tectonic gene mutations in patients with Joubert syndrome

P. Huppke, H. Bolz, C. Bergmann, 2014, European Journal of Human Genetics.

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa.

M. Hims, D. Hunt, T. Rosenberg, 2002, Human molecular genetics.

ANKS6 is a central component of a nephronophthisis module linking NEK8 to INVS and NPHP3

R. Roepman, N. Sebire, M. Ueffing, 2013, Nature Genetics.

Identification of a PRPF4 Loss-of-Function Variant That Abrogates U4/U6.U5 Tri-snRNP Integration and Is Associated with Retinitis Pigmentosa

H. Bolz, K. Rüther, U. Fischer, 2014, PloS one.

First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene

H. Bolz, P. Nürnberg, H. Skarżyński, 2019, Journal of Translational Medicine.

GPR98 mutations cause Usher syndrome type 2 in males

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

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

Peter Nürnberg, Arif B Ekici, André Reis, 2015, eLife.

TALPID 3 controls centrosome and cell polarity and the human ortholog KIAA 0586 is 1 mutated in Joubert syndrome ( JBTS 23 ) 2 3

Peter Nürnberg, Arif B Ekici, André Reis, 2015 .

Hereditary Hearing Loss and Its Syndromes Third Edition

H. Bolz, 2016, European Journal of Human Genetics.

Phenotypic variability of non-syndromic hearing loss in patients heterozygous for both c.35delG of GJB2 and the 342-kb deletion involving GJB6

H. Bolz, A. Gal, C. Kothe, 2004, Hearing Research.

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

Carsten Bergmann, Peter Nürnberg, Ahmad Mansour, 2012, Orphanet Journal of Rare Diseases.

CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis

T. Langmann, H. Stöhr, H. Bolz, 2021, bioRxiv.

C21orf2 is mutated in recessive early-onset retinal dystrophy with macular staphyloma and encodes a protein that localises to the photoreceptor primary cilium

U. Wolfrum, H. Bolz, K. Nagel-Wolfrum, 2015, British Journal of Ophthalmology.

H. Bolz, F. Alkuraya, T. Eisenberger, 2013, British Journal of Ophthalmology.

DOUBLE HOMOZYGOSITY FOR MUTATIONS OF AGL AND SCN9A MIMICKING NEUROHEPATOPATHY SYNDROME

I. Ebermann, H. Bolz, G. Nürnberg, 2008, Neurology.

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

B. Lorenz, T. Rosenberg, S. Feil, 2008, Molecular vision.

The ophthalmic phenotype of IFT140-related ciliopathy ranges from isolated to syndromic congenital retinal dystrophy

H. Bolz, Arif O. Khan, Inam N Bifari, 2015, British Journal of Ophthalmology.

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.

OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype

H. Bolz, U. Zechner, G. Abdel-Salam, 2021, Journal of Human Genetics.

OTUD6B-associated intellectual disability: novel variants and genetic exclusion of retinal degeneration as part of a refined phenotype

H. Bolz, U. Zechner, G. Abdel-Salam, 2021, Journal of Human Genetics.

A family harboring homozygous FZD4 deletion supports the existence of recessive FZD4-related familial exudative vitreoretinopathy

S. Lenzner, H. Bolz, Arif O. Khan, 2017, Ophthalmic genetics.

An USH2A founder mutation is the major cause of Usher syndrome type 2 in Canadians of French origin and confirms common roots of Quebecois and Acadians

I. Ebermann, H. Bolz, I. Lopez, 2009, European Journal of Human Genetics.

First confirmatory study on PTPRQ as an autosomal dominant non-syndromic hearing loss gene

H. Bolz, P. Nürnberg, M. Ołdak, 2019, Journal of Translational Medicine.

GJB 2 Gene Mutations Causing Hearing Loss in Consanguineous Pakistani Families

H. Bolz, S. Baig, S. Naqvi, 2015 .

GJB2 Gene Mutations Causing Hearing Loss in Consanguineous Pakistani

H. Bolz, S. Baig, S. Naqvi, 2014 .

Characterisation of severe rod–cone dystrophy in a consanguineous family with a splice site mutation in the MERTK gene

I. Ebermann, P. Charbel Issa, H. Bolz, 2009, British Journal of Ophthalmology.

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 .

Impaired calmodulin binding of myosin‐7A causes autosomal dominant hearing loss (DFNA11)

H. Bolz, S. Bolz, A. Gal, 2004, Human mutation.

Pediatric Cone-Rod Dystrophy with High Myopia and Nystagmus Suggests Recessive PROM1 Mutations

H. Bolz, Arif O. Khan, 2015, Ophthalmic genetics.

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.

[Next-Generation Sequencing: A Quantum Leap in Ophthalmology Research and Diagnostics].

H. Bolz, 2017, Klinische Monatsblatter fur Augenheilkunde.

Protocadherin-21 (PCDH21), a candidate gene for human retinal dystrophies.

I. Ebermann, H. Bolz, A. Gal, 2005, Molecular vision.

A novel 9 bp deletion in the filamin a gene causes an otopalatodigital‐spectrum disorder with a variable, intermediate phenotype

H. Bolz, A. Gal, P. Meinecke, 2005, American journal of medical genetics. Part A.

Phenotypic observations in “hypotrichosis with juvenile macular dystrophy” (recessive CDH3 mutations)

H. Bolz, Arif O. Khan, 2016, Ophthalmic genetics.

Ophthalmic Features of Children Not Yet Diagnosed with Alstrom Syndrome.

H. Bolz, Arif O. Khan, Inam N Bifari, 2015, Ophthalmology.

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.

MKS1 mutations cause Joubert syndrome with agenesis of the corpus callosum.

B. Ertl-Wagner, H. Bolz, E. Boltshauser, 2016, European journal of medical genetics.

Genotyp-Phänotyp-Korrelation bei Patienten mit CRB1-Mutationen

B. Lorenz, H. Bolz, M. Preising, 2017, Klinische Monatsblätter für Augenheilkunde.

Genotyp-Phänotyp-Korrelation bei Patienten mit CRB 1-Mutationen Genotype-Phenotype Correlations in Patients with CRB 1 Mutations

B. Lorenz, H. Bolz, M. Preising, 2017 .

Usher syndrome type 1 due to missense mutations on both CDH23 alleles: investigation of mRNA splicing

M. Seeliger, E. Zrenner, I. Ebermann, 2008, Human mutation.

Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics.

H. Zentgraf, I. Ebermann, H. Bolz, 2011, The Journal of clinical investigation.

Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy

J. Millán, H. Bolz, M. Claustres, 2012, Human mutation.

Role of Sphingosine-1-Phosphate Phosphohydrolase 1 in the Regulation of Resistance Artery Tone

S. Spiegel, H. Bolz, S. Heximer, 2008, Circulation research.