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M. Pfister · SciRah

Researcher profile · Semantic Scholar

M. Pfister

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M. Pfister — researcher profile on SciRah

h-index: 32
Works: 91
Citations: 3,588

Most-cited papers

GJB2 mutations and degree of hearing loss: a multicenter study.
R. Snoeckx, P. Huygen, D. Feldmann, S. Marlin +60 more
2005American Journal of Human Genetics552 citations Open access
Semantic Scholar
Occupational Noise, Smoking, and a High Body Mass Index are Risk Factors for Age-related Hearing Impairment and Moderate Alcohol Consumption is Protective: A European Population-based Multicenter Study
E. Fransen, V. Topsakal, J. Hendrickx, L. Van Laer +31 more
2008Journal of the Association for Research in Otolaryngology286 citations Open access
Semantic Scholar
GRM7 variants confer susceptibility to age-related hearing impairment.
R. Friedman, L. Van Laer, M. Huentelman, Sonal S. Sheth +28 more
2009Human Molecular Genetics214 citations Open access
Semantic Scholar
Deletion of the Ca2 -activated potassium (BK) -subunit but not the BK 1-subunit leads to progressive hearing loss
L. Rüttiger, Matthias Sausbier, U. Zimmermann, Harald Winter +15 more
2004180 citations
Semantic Scholar
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).
Francesca Donaudy, R. Snoeckx, M. Pfister, H. Zenner +15 more
2004American Journal of Human Genetics155 citations Open access
Semantic Scholar
The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment.
L. Van Laer, E. Van Eyken, E. Fransen, J. Huyghe +31 more
2008Human Molecular Genetics139 citations Open access
Semantic Scholar
Deletion of the Ca2+-activated potassium (BK) alpha-subunit but not the BKbeta1-subunit leads to progressive hearing loss.
L. Rüttiger, Matthias Sausbier, U. Zimmermann, Harald Winter +15 more
2004Proceedings of the National Academy of Sciences of the United States of America128 citations
Semantic Scholar
Mutation A1555G in the 12S rRNA gene and its epidemiological importance in German, Hungarian, and Polish patients
S. Kupka, T. Tóth, Maciej J. Wróbel, U. Zeissler +8 more
2002Human Mutation104 citations Open access
Semantic Scholar
Differential expression of otoferlin in brain, vestibular system, immature and mature cochlea of the rat
Nicola Schug, Claudia Braig, U. Zimmermann, J. Engel +6 more
2006European Journal of Neuroscience99 citations
Semantic Scholar
Otoferlin interacts with myosin VI: implications for maintenance of the basolateral synaptic structure of the inner hair cell.
Paulina Heidrych, U. Zimmermann, Stephanie Kuhn, Christoph Franz +9 more
2009Human Molecular Genetics98 citations
Semantic Scholar
The WFS1 gene, responsible for low frequency sensorineural hearing loss and Wolfram syndrome, is expressed in a variety of inner ear cells
K. Cryns, S. Thys, L. Van Laer, Y. Oka +5 more
2003Histochemistry and Cell Biology95 citations
Semantic Scholar
Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations
K. Cryns, M. Pfister, R. Pennings, S. J. Bom +16 more
2002Human Genetics87 citations Open access
Semantic Scholar
Deficient forward transduction and enhanced reverse transduction in the alpha tectorin C1509G human hearing loss mutation
A. Xia, Simon S. Gao, Tao Yuan, Alexander J Osborn +5 more
2010Disease Models & Mechanisms80 citations Open access
Semantic Scholar
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
Christine Neuhaus, T. Eisenberger, C. Decker, Sandra Nagl +24 more
2017Molecular Genetics & Genomic Medicine69 citations Open access
Semantic Scholar
Single‐nucleotide polymorphisms in the COL1A1 regulatory regions are associated with otosclerosis
W. Chen, N. Meyer, M. J. McKenna, M. Pfister +5 more
2007Clinical Genetics64 citations
Semantic Scholar
Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment.
M. Palmada, K. Schmalisch, C. Böhmer, Nicola Schug +3 more
2006Neurobiology of Disease63 citations Open access
Semantic Scholar
Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait.
J. Huyghe, L. Van Laer, J. Hendrickx, E. Fransen +27 more
2008American Journal of Human Genetics62 citations Open access
Semantic Scholar
Mice lacking Dfna5 show a diverging number of cochlear fourth row outer hair cells.
L. Van Laer, M. Pfister, S. Thys, K. Vrijens +9 more
2005Neurobiology of Disease61 citations Open access
Semantic Scholar
Rab8b GTPase, a protein transport regulator, is an interacting partner of otoferlin, defective in a human autosomal recessive deafness form.
Paulina Heidrych, U. Zimmermann, Andreas Bress, C. Pusch +4 more
2008Human Molecular Genetics59 citations Open access
Semantic Scholar
The Contribution of GJB2 (Connexin 26) 35delG to Age-Related Hearing Impairment and Noise-Induced Hearing Loss
E. Van Eyken, L. Van Laer, E. Fransen, V. Topsakal +31 more
2007Otology and Neurotology59 citations
Semantic Scholar
A Genotype-Phenotype Correlation with Gender-Effect for Hearing Impairment Caused by TECTA Mutations
M. Pfister, H. Thiele, G. Van Camp, E. Fransen +9 more
2004Cellular Physiology and Biochemistry58 citations
Semantic Scholar
A 4bp-Insertion in the eya-Homologous Region (eyaHR) of EYA4 Causes Hearing Impairment in a Hungarian Family Linked to DFNA10
M. Pfister, T. Tóth, H. Thiele, B. Haack +5 more
2002Molecular Medicine56 citations Open access
Semantic Scholar
High frequency of ENG and ALK1/ACVRL1 mutations in German HHT patients
C. Schulte, U. Geisthoff, A. Lux, S. Kupka +3 more
2005Human Mutation52 citations Open access
Semantic Scholar
Frequencies of GJB2 mutations in German control individuals and patients showing sporadic non‐syndromic hearing impairment
S. Kupka, S. Braun, S. Aberle, B. Haack +5 more
2002Human Mutation52 citations Open access
Semantic Scholar
Assessment of denaturing high‐performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2)
Doris Lin, J. Goldstein, A. Mhatre, L. Lustig +2 more
2001Human Mutation52 citations Open access
Semantic Scholar
Functional Analysis of a Novel I71N Mutation in the GJB2 Gene Among Southern Egyptians Causing Autosomal Recessive Hearing Loss
Mostafa R. Mohamed, I. Alesutan, M. Föller, M. Sopjani +8 more
2011Cellular Physiology and Biochemistry44 citations
Semantic Scholar
Deafness in TRβ-mutants is caused by malformation of the tectorial membrane
Harald Winter, L. Rüttiger, M. Müller, Stephanie Kuhn +15 more
2009Journal of Neuroscience38 citations Open access
Semantic Scholar
Comparative study of visual, auditory, and olfactory function in Usher syndrome
M. Seeliger, M. Pfister, K. Gendo, Steffen Paasch +4 more
1999Graefe's Archive for Clinical and Experimental Ophthalmology36 citations
Semantic Scholar
Chromosome 11 monosomy in conjunction with a mutated SDHD initiation codon in nonfamilial paraganglioma cases.
K. Riemann, K. Sotlar, S. Kupka, S. Braun +5 more
2004Cancer Genetics and Cytogenetics34 citations
Semantic Scholar
GJB2 mutations in patients with non‐syndromic hearing loss from Northeastern Hungary
T. Tóth, S. Kupka, B. Haack, K. Riemann +7 more
2004Human Mutation34 citations Open access
Semantic Scholar
Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations
I. Schrauwen, M. Ealy, E. Fransen, K. Vanderstraeten +8 more
2010Human Genetics32 citations
Semantic Scholar
Genetic heterogeneity of deafness phenotypes linked to DFNA4
Tao Yang, M. Pfister, N. Blin, H. Zenner +2 more
2005American Journal of Medical Genetics. Part A32 citations
Semantic Scholar
Coincidence of mutations in different connexin genes in Hungarian patients.
T. Tóth, S. Kupka, B. Haack, F. Fazakas +4 more
2007International Journal of Molecular Medicine31 citations Open access
Semantic Scholar
Epigenetic control of E-cadherin (CDH1) by CpG methylation in metastasising laryngeal cancer.
Pia Azarschab, A. Stembalska, M. Lončar, M. Pfister +2 more
2003Oncology Report28 citations
Semantic Scholar
Comprehensive molecular analysis of 61 Egyptian families with hereditary nonsyndromic hearing loss
B. Budde, M. Aly, Mostafa R. Mohamed, Andreas Bress +12 more
2020Clinical Genetics26 citations Open access
Semantic Scholar
Ozzy, a Jag1 vestibular mouse mutant, displays characteristics of Alagille syndrome.
K. Vrijens, S. Thys, M. D. de Jeu, A. Postnov +9 more
2006Neurobiology of Disease26 citations Open access
Semantic Scholar
Autonomous functions of murine thyroid hormone receptor TRα and TRβ in cochlear hair cells.
Juliane Dettling, Christoph Franz, U. Zimmermann, S. C. Lee +8 more
2014Molecular and Cellular Endocrinology25 citations Open access
Semantic Scholar
Familial Aggregation of Pure Tone Hearing Thresholds in an Aging European Population
J. Hendrickx, J. Huyghe, V. Topsakal, Kelly Demeester +29 more
2013Otology and Neurotology19 citations
Semantic Scholar
Frequency response of mature guinea-pig outer hair cells to stereociliary displacement.
S. Preyer, W. Hemmert, M. Pfister, H. Zenner +1 more
1994Hearing Research18 citations
Semantic Scholar
Lack of Tff3 Peptide Results in Hearing Impairment and Accelerated Presbyacusis
M. Lubka, M. Müller, M. Baus-Lončar, M. Hinz +7 more
2008Cellular Physiology and Biochemistry16 citations
Semantic Scholar
The otoferlin interactome in neurosensory hair cells: significance for synaptic vesicle release and trans-Golgi network (Review).
Magdalena Żak, M. Pfister, N. Blin
2011International Journal of Molecular Medicine14 citations Open access
Semantic Scholar
Influence of gain of function epithelial chloride channel ClC-Kb mutation on hearing thresholds.
Andreas Frey, A. Lampert, S. Waldegger, N. Jeck +11 more
2006Hearing Research14 citations
Semantic Scholar
A novel IRF6 nonsense mutation (Y67X) in a German family with Van der Woude syndrome.
S. Brosch, M. Baur, N. Blin, S. Reinert +1 more
2007International Journal of Molecular Medicine13 citations Open access
Semantic Scholar
Second family with hearing impairment linked to 19q13 and refined DFNA4 localisation
F. Mirghomizadeh, Bettina Bardtke, M. Devoto, M. Pfister +7 more
2002European Journal of Human Genetics13 citations
Semantic Scholar
A second Middle Eastern kindred with autosomal recessive non-syndromic hearing loss segregates DFNB9
S. Leal, F. Apaydin, Carol Barnwell, M. Iber +7 more
1998European Journal of Human Genetics13 citations Open access
Semantic Scholar
Rare variants in BMP2 and BMP4 found in otosclerosis patients reduce Smad signaling
M. Ealy, N. Meyer, J. C. Corchado, I. Schrauwen +4 more
2014Otology and Neurotology12 citations Open access
Semantic Scholar
Mutationsanalyse des Connexin26-Gens bei sporadischen Fällen mittel- bis hochgradiger Schwerhörigkeit
S. Kupka, Farhad Mirghomizadeh, T. Haug, S. Braun +6 more
2000HNO (Berlin. Print)12 citations
Semantic Scholar
Mitochondriale A1555G-Mutation
S. Kupka, B. Bodden-Kamps, M. Baur, H. Zenner +1 more
2004HNO (Berlin. Print)11 citations
Semantic Scholar
Ergic2, a Brain Specific Interacting Partner of Otoferlin
Magdalena Żak, Andreas Bress, Niels Brandt, Christoph Franz +4 more
2012Cellular Physiology and Biochemistry10 citations Open access
Semantic Scholar
[Usher syndrome: clinical features, diagnostic options, and therapeutic prospects].
M. Seeliger, M. Fischer, M. Pfister
2009Der Ophthalmologe9 citations
Semantic Scholar

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