John Neidhardt (0000-0002-9205-8394)

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Biography

Prof. Dr. John Neidhardt
Human Genetics
Faculty VI - School of Medicine and Health Sciences University of Oldenburg
Ammerländer Heerstrasse 114-118
26129 Oldenburg
Germany
Tel: +49 (0)441 7983800 / -3810
john.neidhardt@uol.de
http://www.uni-oldenburg.de/humangenetik/

Education:
1992 A-Level, Hamburg, Germany.
1998 Diploma degree in Biochemistry, University of Hannover, Germany

Dissertation, additional studies, habilitation:
2002 Certificate in Molecular Biology, University of Hamburg, Germany.
2002 PhD degree (summa cum laude), Dr. rer nat.
2011 Venia Legendi in Medical Molecular Genetics, University of Zurich, Switzerland

Positions:
1997 Internship, University of Berkeley, Dep. of Plant and Microbial Biology, CA, USA
2002 Postdoc at the Center of Molecular Neurobiology Hamburg, Germany
2003 Group leader, Institute of Medical Molecular Genetics, University of Zurich, CH
2011 Deputy head, Institute of Medical Molecular Genetics, University of Zürich, CH
2014 Full Professor, Human Genetics, University of Oldenburg, Germany

Activities

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University of Oldenburg: Oldenburg, DE

2014-07-01 to present | Full Prof. (Human Genetics)

Employment

John Neidhardt

https://orcid.org/0000-0002-9205-8394

Personal information

Biography

Activities

Employment (1)

University of Oldenburg: Oldenburg, DE

Works (50 of 61)

Skewed X-inactivation is associated with retinal dystrophy in female carriers ofRPGRmutations

Sensitive and selective phenol sensing in denitrifying <i>Aromatoleum aromaticum</i> EbN1 <sup>T</sup>

mRNA splicing is modulated by intronic microRNAs.

In Vivo Efficacy and Safety Evaluations of Therapeutic Splicing Correction Using U1 snRNA in the Mouse Retina

A TARP Syndrome Phenotype Is Associated with a Novel Splicing Variant in RBM10

Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease

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Systematic expression analysis of plasticity‐related genes in mouse brain development brings PRG4 into play

Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption

Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss.

High-Throughput Sequencing to Identify Mutations Associated with Retinal Dystrophies

A novel missense variant in the EML1 gene associated with bilateral ribbon-like subcortical heterotopia leads to ciliary defects.

The Major Ciliary Isoforms of RPGR Build Different Interaction Complexes with INPP5E and RPGRIP1L.

Dominant optic atrophy: Culprit mitochondria in the optic nerve.

Spectrum of Disease Severity in Patients With X-Linked Retinitis Pigmentosa Due to RPGR Mutations.

Translational Read-Through Therapy of <i>RPGR</i> Nonsense Mutations.

Compound heterozygous RPE65 mutations associated with an early onset autosomal recessive retinitis pigmentosa

A Novel de novo Frameshift Mutation in the <i>BCL11A</i> Gene in a Patient with Intellectual Disability Syndrome and Epilepsy.

Identification of Brain-Specific Treatment Effects in NPC1 Disease by Focusing on Cellular and Molecular Changes of Sphingosine-1-Phosphate Metabolism.

Rare variants in the GABA<sub>A</sub> receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes.

Nanomolar Responsiveness of an Anaerobic Degradation Specialist to Alkylphenol Pollutants

A therapy with miglustat, 2-hydroxypropyl-ß-cyclodextrin and allopregnanolone restores splenic cholesterol homeostasis in Niemann-pick disease type C1

Novel synonymous and missense variants in FGFR1 causing Hartsfield syndrome.

Combining Engineered U1 snRNA and Antisense Oligonucleotides to Improve the Treatment of a BBS1 Splice Site Mutation.

Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.

Toward genome editing in X-linked RP-development of a mouse model with specific treatment relevant features.

Antisense Oligonucleotide-Based Splicing Correction in Individuals with Leber Congenital Amaurosis due to Compound Heterozygosity for the c.2991+1655A>G Mutation in CEP290.

A Novel C-Terminal Mutation in Gsdma3 (C+/H-) Leads to Alopecia and Corneal Inflammatory Response in Mice.

The mutation p.E113K in the Schiff base counterion of rhodopsin is associated with two distinct retinal phenotypes within the same family.

A Novel Method Combining Vitreous Aspiration and Intravitreal AAV2/8 Injection Results in Retina-Wide Transduction in Adult Mice.

Identification of Novel and Recurrent Disease-Causing Mutations in Retinal Dystrophies Using Whole Exome Sequencing (WES): Benefits and Limitations.

Next generation sequencing based identification of disease-associated mutations in Swiss patients with retinal dystrophies.

Localizing the RPGR protein along the cilium: a new method to determine efficacies to treat RPGR mutations.

Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.

GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.

Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.

The cataract and glucosuria associated monocarboxylate transporter MCT12 is a new creatine transporter.

A gene therapeutic approach to correct splice defects with modified U1 and U6 snRNPs.

Novel VCAN mutations and evidence for unbalanced alternative splicing in the pathogenesis of Wagner syndrome.

U1 snRNA-mediated gene therapeutic correction of splice defects caused by an exceptionally mild BBS mutation.

Gene therapeutic approach using mutation-adapted U1 snRNA to correct a RPGR splice defect in patient-derived cells.

ABCA4 and ROM1: implications for modification of the PRPH2-associated macular dystrophy phenotype.

The molecular basis of human retinal and vitreoretinal diseases.

Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract.

Short DNA sequences inserted for gene targeting can accidentally interfere with off-target gene expression.

Cone versus rod disease in a mutant Rpgr mouse caused by different genetic backgrounds.

Mutation- and tissue-specific alterations of RPGR transcripts.

Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA.

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

Overexpression of RPGR leads to male infertility in mice due to defects in flagellar assembly.