Martin Koenighofer - Publications

A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.

Journal: Human genetics

Published: June 16, 2022

High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing Loss.

Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology

Published: March 12, 2021

A novel proline substitution (Arg201Pro) in alpha helix 8 of TMEM98 causes autosomal dominant nanophthalmos-4, closed angle glaucoma and attenuated visual acuity.

Journal: Experimental eye research

Published: September 09, 2020

A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation.

Journal: Frontiers in cellular neuroscience

Published: July 21, 2020

Association Between Orthonasal Olfaction and Chemosensory Perception in Patients With Smell Loss.

Journal: The Laryngoscope

Published: April 03, 2020

Body-Mass-Index Associated Differences in Ortho- and Retronasal Olfactory Function and the Individual Significance of Olfaction in Health and Disease.

Journal: Journal of clinical medicine

Published: January 16, 2020

Plasma VEGF - a candidate biomarker for response to treatment with bevacizumab in HHT patients.

Journal: Rhinology

Published: November 05, 2019

Spectrum of Novel Hereditary Hemorrhagic Telangiectasia Variants in an Austrian Patient Cohort.

Journal: Clinical and experimental otorhinolaryngology

Published: March 04, 2019

Incomplete penetrance of a novel SDHD variation causing familial head and neck paraganglioma.

Journal: Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery

Published: October 19, 2018

Identification of a rare COCH mutation by whole-exome sequencing : Implications for personalized therapeutic rehabilitation in an Austrian family with non-syndromic autosomal dominant late-onset hearing loss.

Journal: Wiener klinische Wochenschrift

Published: April 27, 2017

Whole-exome sequencing to identify the cause of congenital sensorineural hearing loss in carriers of a heterozygous GJB2 mutation.

Journal: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery

Published: March 02, 2017

A Novel Mutation in SLC26A4 Causes Nonsyndromic Autosomal Recessive Hearing Impairment.

Journal: Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology

Published: November 19, 2016