H. Kremer

H. Kremer, R. Pennings, H. Kunst, 2018, Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery.

Evaluation of visual impairment in Usher syndrome 1b and Usher syndrome 2a.

C. Cremers, A. Deutman, H. Kremer, 2004, Acta ophthalmologica Scandinavica.

Intrafamilial Variable Hearing Loss in TRPV4 Induced Spinal Muscular Atrophy

H. Kremer, R. Pennings, M. Ekker, 2014, The Annals of otology, rhinology, and laryngology.

Usherin defects lead to early‐onset retinal dysfunction in zebrafish

M. Westerfield, M. Kamermans, L. Hetterschijt, 2018, Experimental eye research.

Localization of the gene for dominant cystoid macular dystrophy on chromosome 7p.

A. Deutman, H. Kremer, H. Ropers, 1994, Human molecular genetics.

Genotype–Phenotype Correlation in DFNB8/10 Families with TMPRSS3 Mutations

C. Cremers, T. Strom, H. Kremer, 2011, Journal of the Association for Research in Otolaryngology.

Audiometric characteristics of a Dutch family linked to DFNA15 with a novel mutation (p.L289F) in POU4F3.

C. Cremers, H. Kremer, R. Collin, 2008, Archives of otolaryngology--head & neck surgery.

Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment

M. Tekin, H. Kremer, I. Feenstra, 2017, Hearing Research.

Expert Specification of the ACMG/AMP Variant Interpretation Guidelines for Genetic Hearing Loss

H. Rehm, H. Kremer, K. Avraham, 2018, bioRxiv.

Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C

Andrea Olschewski, Zoltán Bálint, Eleonore Fröhlich, 2009, Nature Genetics.

Localisation of the gene for a dominant congenital spinal muscular atrophy predominantly affecting the lower limbs to chromosome 12q23–q24

H. Kremer, G. Hageman, Ajw van der Vleuten, 1998, European Journal of Human Genetics.

The gene for hypotrichosis of Marie Unna maps between D8S258 and D8S298: exclusion of the hr gene by cDNA and genomic sequencing.

H. Kremer, J. Uitto, J. McGrath, 1999, American journal of human genetics.

A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss

C. Cremers, A. Beynon, H. Kremer, 2020, Journal of Medical Genetics.

A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss

C. Cremers, A. Beynon, H. Kremer, 2019, Journal of Medical Genetics.

The Contribution of GJB2 (Connexin 26) 35delG to Age-Related Hearing Impairment and Noise-Induced Hearing Loss

T. Wienker, C. Cremers, P. van de Heyning, 2007, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Molecular diagnosis of hereditary hearing impairment.

H. Kremer, L. Hoefsloot, 2002, Advances in oto-rhino-laryngology.

A limited repertoire of mutations of the luteinizing hormone (LH) receptor gene in familial and sporadic patients with male LH-independent precocious puberty.

J. Martens, H. Brunner, H. Kremer, 1999, The Journal of clinical endocrinology and metabolism.

Features of autosomal recessive non‐syndromic hearing impairment: a review to serve as a reference

H. Kremer, R. Pennings, P. Huygen, 2016, Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery.

Flat Threshold and Mid-Frequency Hearing Impairment in a Dutch DFNA8/12 Family with a Novel Mutation in TECTA

C. Cremers, H. Kremer, R. Collin, 2008, Audiology and Neurotology.

CiliaCarta: An integrated and validated compendium of ciliary genes

Colin A. Johnson, Robin van der Lee, T. Gibson, 2017, bioRxiv.

KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome

L. Hetterschijt, R. Roepman, N. Sorusch, 2015, Genome Biology.

Grxcr2 is required for stereocilia morphogenesis in the cochlea

Y. Raphael, H. Kremer, Sherri M Jones, 2018, PloS one.

Two types of polyadenated mRNAs are synthesized from Drosophila replication-dependent histone genes.

H. Kremer, A. Akhmanova, W. Hennig, 1997, European journal of biochemistry.

Naturally occurring testis‐specific histone H3 antisense transcripts in Drosophila

H. Kremer, A. Akhmanova, W. Hennig, 1997, Molecular reproduction and development.

Paroxysmal choreoathetosis as presenting symptom of diabetes mellitus.

H. Kremer, J. Haan, G. Padberg, 1989, Journal of neurology, neurosurgery, and psychiatry.

Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant

E. van Wijk, T. Peters, H. Kremer, 2022, NPJ genomic medicine.

Antisense Oligonucleotide Design and Evaluation of Splice-Modulating Properties Using Cell-Based Assays.

E. van Wijk, H. Kremer, Ralph Slijkerman, 2018, Methods in molecular biology.

A novel TECTA mutation confirms the recognizable phenotype among autosomal recessive hearing impairment families.

H. Kremer, M. Sanati, A. D. de Brouwer, 2008, International journal of pediatric otorhinolaryngology.

Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunction.

C. Cremers, T. Strom, E. van Wijk, 2010, American journal of human genetics.

A novel locus for autosomal recessive nonsyndromic hearing impairment, DFNB63, maps to chromosome 11q13.2–q13.4

C. Cremers, H. Brunner, H. Kremer, 2007, Journal of Molecular Medicine.

Longitudinal Analysis of Hearing Loss in a Case of Hemosiderosis of the Central Nervous System

C. Cremers, H. Kremer, P. Huygen, 2003, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Explorer An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Teunis J. P. van Dam, T. Gibson, M. Huynen, 2016 .

Mutation analysis in the candidate Möbius syndrome genes PGT and GATA2 on chromosome 3 and EGR2 on chromosome 10

H. Brunner, B. van der Zwaag, H. Kremer, 2002, Journal of medical genetics.

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.

F. Mastaglia, H. Kremer, G. Ravenscroft, 2010, American journal of human genetics.

Involvement of DFNB59 mutations in autosomal recessive nonsyndromic hearing impairment

C. Cremers, T. Strom, A. D. den Hollander, 2007, Human mutation.

Genetic linkage of the keratin type II gene cluster with ichthyosis bullosa of Siemens and with autosomal dominant ichthyosis exfoliativa.

H. Kremer, R. Happle, A. Lavrijsen, 1994, The Journal of investigative dermatology.

A missense mutation in the second transmembrane segment of the luteinizing hormone receptor causes familial male-limited precocious puberty.

H. Brunner, H. Kremer, E. Milgrom, 1995, The Journal of clinical endocrinology and metabolism.

Cosegregation of missense mutations of the luteinizing hormone receptor gene with familial male-limited precocious puberty.

H. Kremer, H. Ropers, J. Wit, 1993, Human molecular genetics.

A European multicenter study into age-related hearing impairment: Occupational noise, smoking and high BMI are risk factors and moderate akcohol consumption is protective.

T. Wienker, C. Cremers, H. Kremer, 2008 .

Phenotype Determination Guides Swift Genotyping of a DFNA2/KCNQ4 Family With a Hot Spot Mutation (W276S)

C. Cremers, H. Kremer, H. te Brinke, 2005, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Generation of Humanized Zebrafish Models for the In Vivo Assessment of Antisense Oligonucleotide-Based Splice Modulation Therapies.

E. van Wijk, H. Kremer, E. de Vrieze, 2022, Methods in molecular biology.

Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by mutations in USH2A exon 13

E. van Wijk, T. Peters, H. Kremer, 2020 .

Progressive Sensorineural Hearing Loss and Normal Vestibular Function in a Dutch DFNB7/11 Family with a Novel Mutation in TMC1

C. Cremers, H. Kremer, R. Collin, 2010, Audiology and Neurotology.

patients with Cowden d isease

M. Nelen, H. Kremer, J. Fryns, 1997 .

X-linked nonspecific mental retardation (MRX) linkage studies in 25 unrelated families: the European XLMR consortium.

S. Claes, H. Kremer, A. Toutain, 1999, American journal of medical genetics.

An Inactivating Mutation of the Luteinizing Hormone Receptor Causes Amenorrhea in a 46,XX Female*

H. Brunner, H. Kremer, P. Dahia, 1996 .

Male pseudohermaphroditism due to a homozygous missense mutation of the luteinizing hormone receptor gene

E. Mariman, H. Brunner, H. Kremer, 1995, Nature Genetics.

Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.

L. Vissers, A. Hoischen, I. Fajardy, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Allelic Mutations of KITLG, Encoding KIT Ligand, Cause Asymmetric and Unilateral Hearing Loss and Waardenburg Syndrome Type 2.

J. Lupski, D. Muzny, S. Jhangiani, 2015, American journal of human genetics.

GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations

H. Kremer, A. Brouwer, E. Kalay, 2005, Hearing Research.

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss

Adam P. DeLuca, Corey W. Goodman, Bruce W. Tompkins, 2011, Human mutation.

Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome

Michael A. Patton, Han G. Brunner, Andrew H. Crosby, 2001, Nature Genetics.

Further Delineation of the Critical Region for Noonan Syndrome on the Long Arm of Chromosome 12

E. Mariman, M. Patton, H. Kremer, 1997, European journal of human genetics : EJHG.

Missense mutations in POU4F3 cause autosomal dominant hearing impairment DFNA15 and affect subcellular localization and DNA binding

C. Cremers, G. Vriend, H. Kremer, 2008, Human mutation.

Vertical corneal striae in families with autosomal dominant hearing loss: DFNA9/COCH.

C. Cremers, J. Cruysberg, H. Kremer, 2007, American journal of ophthalmology.

Phenotype Description of a Novel DFNA9/COCH Mutation, I109T

J. Cruysberg, H. Kremer, L. Hoefsloot, 2007, The Annals of otology, rhinology, and laryngology.

Clinical Characteristics of a Dutch DFNA9 Family with a Novel COCH Mutation, G87W

C. Cremers, H. Kremer, L. Hoefsloot, 2006, Audiology and Neurotology.

Identification of a novel COCH mutation, G87W, causing autosomal dominant hearing impairment (DFNA9)

C. Cremers, H. Kremer, L. Hoefsloot, 2006, American Journal of Medical Genetics. Part A.

Audiometric, Vestibular, and Genetic Aspects of a DFNA9 Family with a G88E COCH Mutation

C. Cremers, C. Morton, H. Kremer, 2005, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Disease-specific ACMG/AMP guidelines improve sequence variant interpretation for hearing loss

Andrew R. Grant, Marina T. DiStefano, I. Krantz, 2021, Genetics in Medicine.

Development of a genotyping microarray for Usher syndrome

C. Cremers, M. Bitner-Glindzicz, E. van Wijk, 2006, Journal of Medical Genetics.

Fine mapping of the neurally expressed gene SOX14 to human 3q23, relative to three congenital diseases

T. Sullivan, H. Kremer, Toshiya Yamada, 2000, Human Genetics.

Teunissen-Cremers Syndrome: A Clinical, Surgical, and Genetic Report

C. Cremers, A. Kuijpers-Jagtman, J. Cruysberg, 2005, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Novel PTEN mutations in patients with Cowden disease: absence of clear genotype–phenotype correlations

C. Woods, M. Nelen, H. Kremer, 1999, European Journal of Human Genetics.

Germline mutations in the PTEN/MMAC1 gene in patients with Cowden disease.

M. Nelen, H. Kremer, J. Fryns, 1997, Human molecular genetics.

Localization of the gene for Cowden disease to chromosome 10q22–23

E. Mariman, D. Easton, R. Eeles, 1996, Nature Genetics.

Efficient Generation of Knock-In Zebrafish Models for Inherited Disorders Using CRISPR-Cas9 Ribonucleoprotein Complexes

E. van Wijk, H. Kremer, Marco Aben, 2021, International journal of molecular sciences.

Further audiovestibular characterization of DFNB77, caused by deleterious variants in LOXHD1, and investigation into the involvement of Fuchs corneal dystrophy

A. Beynon, H. Kremer, C. Hoyng, 2018, Clinical genetics.

A Novel Mutation Identified in the DFNA5 Gene in a Dutch Family: A Clinical and Genetic Evaluation

C. Cremers, H. Kremer, F. Cremers, 2003, Audiology and Neurotology.

The grainyhead like 2 gene (GRHL2), alias TFCP2L3, is associated with age-related hearing impairment.

T. Wienker, C. Cremers, H. Kremer, 2008, Human molecular genetics.

Contribution of the N-acetyltransferase 2 polymorphism NAT2*6A to age-related hearing impairment

T. Wienker, C. Cremers, H. Kremer, 2007, Journal of Medical Genetics.

Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant

A. Hoischen, H. Kremer, F. Cremers, 2021, Human genetics.

The Impact of Modern Technologies on Molecular Diagnostic Success Rates, with a Focus on Inherited Retinal Dystrophy and Hearing Loss

H. Kremer, F. Cremers, S. Roosing, 2021, International journal of molecular sciences.

Positional cloning of deafness genes.

H. Kremer, F. Cremers, 2009, Methods in molecular biology.

A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome

H. G. Brunner, C. Cremers, S. Nabuurs, 2005, Journal of Molecular Medicine.

Hereditary hearing loss; about the known and the unknown

H. Kremer, 2019, Hearing Research.

A. Snik, M. Tekin, A. Beynon, 2014, Ear and hearing.

Fine mapping of autosomal dominant nonsyndromic hearing impairment DFNA21 to chromosome 6p24.1‐22.3

C. Cremers, H. Kremer, F. Cremers, 2005, American journal of medical genetics. Part A.

Variable Clinical Features in Patients with CDH23 Mutations (USH1D-DFNB12)

C. Cremers, A. Deutman, H. Kremer, 2004, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

A novel locus for autosomal dominant non-syndromic hearing loss, DFNA31, maps to chromosome 6p21.3

C. Cremers, H. Kremer, A. D. de Brouwer, 2004, Journal of Medical Genetics.

Cloning, characterization, and mRNA expression analysis of novel human fetal cochlear cDNAs.

A. D. den Hollander, H. Brunner, H. Kremer, 2003, Genomics.

Differential loss of heterozygosity in the region of the Cowden locus within 10q22-23 in follicular thyroid adenomas and carcinomas.

C. Larsson, H. Kremer, C. Eng, 1997, Cancer research.

MYO15A (DFNB3) mutations in Turkish hearing loss families and functional modeling of a novel motor domain mutation

C. Cremers, E. Krieger, H. Brunner, 2007, American Journal of Medical Genetics. Part A.

A mutation in the gamma actin 1 (ACTG1) gene causes autosomal dominant hearing loss (DFNA20/26)

E. Krieger, E. van Wijk, H. Kremer, 2003, Journal of medical genetics.

X-linked mental retardation associated with cleft lip/palate maps to Xp11.3-q21.3.

E. Mariman, H. Kremer, H. van Bokhoven, 1999, American journal of medical genetics.

Disruption of the Basal Body Protein POC1B Results in Autosomal-Recessive Cone-Rod Dystrophy

C. Klaver, A. D. den Hollander, S. Letteboer, 2014, American journal of human genetics.

Detailed mapping, mutation analysis, and intragenic polymorphism identification in candidate Noonan syndrome genes MYL2,DCN, EPS8, andRPL6

D. Page, E. Mariman, R. Kucherlapati, 2000, Journal of medical genetics.

Usher syndrome type IV: clinically and molecularly confirmed by novel ARSG variants

H. Kremer, D. Keegan, M. Damme, 2022, Human Genetics.

Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cells

T. Strom, H. Kremer, S. Riazuddin, 2015, European Journal of Human Genetics.

Nonsyndromic Hearing Loss Caused by USH1G Mutations: Widening the USH1G Disease Spectrum

A. Beynon, E. van Wijk, H. Kremer, 2015, Ear and hearing.

Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans

B. van der Zwaag, H. Kremer, S. Riazuddin, 2008, Nature Genetics.

CDH23 mutation and phenotype heterogeneity: a profile of 107 diverse families with Usher syndrome and nonsyndromic deafness.

J. W. Askew, W. Reardon, H. Kremer, 2002, American journal of human genetics.

Molecular Inversion Probe-Based Sequencing of USH2A Exons and Splice Sites as a Cost-Effective Screening Tool in USH2 and arRP Cases

E. van Wijk, H. Kremer, F. Cremers, 2021, International journal of molecular sciences.

A Novel COCH Mutation Affects the vWFA2 Domain and Leads to a Relatively Mild DFNA9 Phenotype

A. Beynon, H. Kremer, R. Pennings, 2020, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Antisense Oligonucleotide-based Splice Correction for USH2A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation.

L. Hetterschijt, E. van Wijk, T. Peters, 2016, Molecular therapy. Nucleic acids.

Chromatin organization in the male germ line of Drosophila hydei

H. Kremer, W. Hennig, R. Dijkhof, 1986, Chromosoma.

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

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

Usher syndrome and Leber congenital amaurosis are molecularly linked via a novel isoform of the centrosomal ninein-like protein.

C. Cremers, S. Letteboer, R. Roepman, 2009, Human molecular genetics.

A Dutch family with hearing loss linked to the DFNA20/26 locus: longitudinal analysis of hearing impairment.

C. Cremers, E. van Wijk, H. Kremer, 2004, Archives of otolaryngology--head & neck surgery.

Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

S. Mundlos, S. Mead, M. Mhlanga, 2020, American journal of human genetics.

Localization of the gene (or genes) for a syndrome with X-linked mental retardation, ataxia, weakness, hearing impairment, loss of vision and a fatal course in early childhood

W. Arts, H. Kremer, B. Hamel, 1996, Human Genetics.

Zebrafish as a Model to Evaluate a CRISPR/Cas9-Based Exon Excision Approach as a Future Treatment Option for EYS-Associated Retinitis Pigmentosa

E. van Wijk, T. Peters, H. Kremer, 2021, International journal of molecular sciences.

ZNF408 is mutated in familial exudative vitreoretinopathy and is crucial for the development of zebrafish retinal vasculature

Christian Gilissen, Alexander Hoischen, Tomoko Tahira, 2013, Proceedings of the National Academy of Sciences.

Clinical evaluation of pneumococcal meningitis in adults over a twelve-year period

H. Kremer, J. Hermans, G. Bruyn, 1989, European Journal of Clinical Microbiology and Infectious Diseases.

Spermatogenesis inDrosophila hydei: A genetic survey

R. Hochstenbach, H. Kremer, J. Hackstein, 1990, Roux's archives of developmental biology.

Genetic Analysis of Spermatogenesis in Drosophila Hydei: Male Sterile Mutations Affecting Nuclear Development During the Primary Spermatocyte Stage

H. Kremer, J. Hackstein, W. Hennig, 1990 .

Spermatogenesis of Drosophila hydei.

H. Kremer, W. Hennig, 1990, International review of cytology.

Structure and function of Y chromosomal genes in Drosophila

H. Kremer, P. Huijser, J. Hackstein, 1987 .

An organelle-specific protein landscape identifies novel diseases and molecular mechanisms

Shane A. McCarthy, R. Durbin, Klaudia Walter, 2016, Nature Communications.

MPZL2, Encoding the Epithelial Junctional Protein Myelin Protein Zero-like 2, Is Essential for Hearing in Man and Mouse.

A. Beynon, P. Lichtner, E. van Wijk, 2018, American journal of human genetics.

horm one receptor gene

H. Brunner, H. Kremer, H. Ropers, 1995 .

Isolation and characterization of a Drosophila hydei histone DNA repeat unit.

H. Kremer, W. Hennig, 1990, Nucleic acids research.

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

R. Pfundt, J. Hehir-Kwa, M. Nelen, 2016, European Journal of Human Genetics.

Mutations in TPRN cause a progressive form of autosomal-recessive nonsyndromic hearing loss.

J. Veltman, H. Kremer, Majida Charif, 2010, American journal of human genetics.

Genome-wide SNP-based linkage scan identifies a locus on 8q24 for an age-related hearing impairment trait.

T. Wienker, C. Cremers, H. Kremer, 2008, American journal of human genetics.

PTEN mutation analysis in two genetic subtypes of high-grade oligodendroglial tumors. PTEN is only occasionally mutated in one of the two genetic subtypes.

M. Nelen, H. Kremer, J. Jeuken, 2000, Cancer genetics and cytogenetics.

The mitotic spindle protein SPAG5/Astrin connects to the Usher protein network postmitotically

L. Hetterschijt, R. Roepman, U. Wolfrum, 2012, Cilia.

SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma

Steven P. Gygi, Peter Devilee, Jared Rutter, 2009, Science.

Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing

H. Kremer, J. Economides, J. Gómez-Skarmeta, 2010, Human Genetics.

Next-generation sequencing identifies mutations of SMPX, which encodes the small muscle protein, X-linked, as a cause of progressive hearing impairment.

S. Haas, H. Kremer, L. Hoefsloot, 2011, American journal of human genetics.

Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family.

J. Leunissen, H. Kremer, B. Hamel, 1996, Human molecular genetics.

Mutations of ESRRB encoding estrogen-related receptor beta cause autosomal-recessive nonsyndromic hearing impairment DFNB35.

S. Leal, C. Cremers, G. Vriend, 2008, American journal of human genetics.

Cochlin immunostaining of inner ear pathologic deposits and proteomic analysis in DFNA9 deafness and vestibular dysfunction.

Saumil N Merchant, Bryan Krastins, Patrick L M Huygen, 2006, Human molecular genetics.

A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy

Syed Ali Raza Kazmi, M. Göpfert, M. Oti, 2017, Disease Models & Mechanisms.

Genetic fine mapping of the gene for recessive Stargardt disease

A. Deutman, H. Kremer, F. Cremers, 1996, Human Genetics.

Structure and expression of histone H3.3 genes in Drosophila melanogaster and Drosophila hydei.

H. Kremer, A. Akhmanova, A. Akhmanova, 1995, Genome.

Novel gene discovery for hearing loss and other routes to increased diagnostic rates

H. Kremer, 2021, Human Genetics.

Homozygous variants in KIAA1549, encoding a ciliary protein, are associated with autosomal recessive retinitis pigmentosa

H. Kremer, F. Cremers, C. Hoyng, 2018, Journal of Medical Genetics.

A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

K. Steel, S. Leal, N. Tommerup, 2015, PLoS genetics.

Active Transport and Diffusion Barriers Restrict Joubert Syndrome-Associated ARL13B/ARL-13 to an Inv-like Ciliary Membrane Subdomain

S. Cevik, S. Letteboer, L. Hetterschijt, 2013, PLoS genetics.

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations

C. Cremers, W. Reardon, H. Kremer, 2002, Human Genetics.

Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A

E. van Wijk, H. Kremer, F. Cremers, 2022, International journal of molecular sciences.

Antisense Oligonucleotide-based Splice Correction for USH 2 A-associated Retinal Degeneration Caused by a Frequent Deep-intronic Mutation

L. Hetterschijt, E. van Wijk, T. Peters, 2016 .

Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer

C. Cremers, T. Strom, H. Kremer, 2008, European Journal of Human Genetics.

SDHAF2 (PGL2-SDH5) and Hereditary Head and Neck Paraganglioma

C. Cremers, H. Kremer, L. Hoefsloot, 2011, Clinical Cancer Research.

Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family.

Jefte M. Drijvers, C. Cremers, H. Kremer, 2011, The Journal of clinical endocrinology and metabolism.

Audiometric characteristics of a Dutch family with Muckle-Wells syndrome

A. Snik, H. Kremer, L. Hoefsloot, 2011, Hearing Research.

Interfering with UDP-GlcNAc metabolism and heparan sulfate expression using a sugar analogue reduces angiogenesis.

Xander M R van Wijk, S. Stringer, E. van Wijk, 2013, ACS chemical biology.

Genetic Spectrum of Autosomal Recessive Non-Syndromic Hearing Loss in Pakistani Families

T. Strom, H. Kremer, A. Hussain, 2014, PloS one.

Direct interaction of the Usher syndrome 1G protein SANS and myomegalin in the retina.

U. Wolfrum, E. van Wijk, Tina Märker, 2011, Biochimica et biophysica acta.

Identification of 51 novel exons of the Usher syndrome type 2A (USH2A) gene that encode multiple conserved functional domains and that are mutated in patients with Usher syndrome type II.

C. Cremers, E. van Wijk, H. Kremer, 2004, American journal of human genetics.

Clinical Report on the L95P Mutation in a Dutch Family with Paraganglioma

H. Kremer, L. Hoefsloot, F. Joosten, 2002, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

A. Hoischen, C. Cremers, H. Kremer, 2018, Genetics in Medicine.

A second gene for autosomal dominant Möbius syndrome is localized to chromosome 10q, in a Dutch family.

H. Kremer, B. Hamel, H. Kremer, 1999, American journal of human genetics.

Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38

A. Beynon, H. Kremer, R. Pennings, 2023, Genes.

Genotype-Phenotype Correlations of Pathogenic COCH Variants in DFNA9: A HuGE Systematic Review and Audiometric Meta-Analysis

A. Beynon, E. van Wijk, H. Kremer, 2022, Biomolecules.

De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment

A. Beynon, H. Kremer, J. M. van de Kamp, 2018, Human Genetics.

A combination of two truncating mutations in USH2A causes more severe and progressive hearing impairment in Usher syndrome type IIa

C. Cremers, C. Möller, H. Kremer, 2016, Hearing Research.

Audiometric Characteristics of a Dutch DFNA10 Family With Mid-Frequency Hearing Impairment

H. Kremer, I. Feenstra, R. Pennings, 2016, Ear and hearing.

Familial Aggregation of Pure Tone Hearing Thresholds in an Aging European Population

T. Wienker, C. Cremers, H. Kremer, 2013, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Progressive hereditary hearing impairment caused by a MYO6 mutation resembles presbyacusis

A. Snik, A. Beynon, H. Kremer, 2013, Hearing Research.

Audiometric and Vestibular Features in a Second Dutch DFNA20/26 Family with a Novel Mutation in ACTG1

H. Kremer, R. Collin, P. Huygen, 2009, The Annals of otology, rhinology, and laryngology.

Mild and Variable Audiometric and Vestibular Features in a Third DFNA15 Family with a Novel Mutation in POU4F3

H. Kremer, R. Collin, Hannie Kremer, 2009, The Annals of otology, rhinology, and laryngology.

Cochleovestibular and Ocular Features in a Dutch DFNA11 Family

C. Cremers, J. Cruysberg, E. van Wijk, 2006, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Vestibular Deterioration Precedes Hearing Deterioration in the P51S COCH Mutation (DFNA9): An Analysis in 74 Mutation Carriers

C. Cremers, H. Kremer, W. Verhagen, 2005, Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology.

Vestibular function and temporal bone imaging in DFNB1

A. Beynon, H. Kremer, R. Pennings, 2015, Hearing Research.

Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).

Patrick L M Huygen, C. Cremers, H. Kremer, 2003, Archives of otolaryngology--head & neck surgery.

Homozygosity mapping reveals mutations of GRXCR1 as a cause of autosomal-recessive nonsyndromic hearing impairment.

S. Leal, C. Cremers, J. Veltman, 2010, American journal of human genetics.

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human

J. R. Holt, H. Kremer, C. Srisailapathy, 2011, Nature communications.

GRM7 variants confer susceptibility to age-related hearing impairment.

Rebecca F. Halperin, Jason J. Corneveaux, D. Stephan, 2009, Human molecular genetics.

Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearing.

K. Kaestner, H. Kremer, C. Gilissen, 2021, Developmental cell.

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.

AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9

E. van Wijk, H. Kremer, R. Pennings, 2021, Molecular therapy. Nucleic acids.

Allele-specific antisense oligonucleotide therapy for dominantly inherited hearing impairment DFNA9

E. van Wijk, H. Kremer, R. Pennings, 2020, bioRxiv.

Vestibular Impairment in a Dutch DFNA15 Family with an L289F Mutation in POU4F3

C. Cremers, H. Kremer, R. Collin, 2009, Audiology and Neurotology.

Novel mutation in AAA domain of BCS1L causing Bjornstad syndrome

Syed Ali Raza Kazmi, H. Kremer, S. Siddiqi, 2013, Journal of Human Genetics.

A Novel TECTA Mutation in a Dutch DFNA8/12 Family Confirms Genotype–Phenotype Correlation

C. Cremers, H. Kremer, A. Brouwer, 2006, Journal of the Association for Research in Otolaryngology.

The DFNB 31 gene product whirlin connects to the Usher protein network in the cochlea and retina by direct association with USH 2 A and VLGR 1

C. Cremers, R. Roepman, U. Wolfrum, 2006 .

Phosphorylation of the Usher syndrome 1G protein SANS controls Magi2-mediated endocytosis.

R. Roepman, U. Wolfrum, Tina Märker, 2014, Human molecular genetics.

USH2A Mutation analysis in 70 Dutch families with Usher syndrome type II

C. Cremers, A. Deutman, H. Kremer, 2004, Human mutation.

Comparison of 12 Reference Genes for Normalization of Gene Expression Levels in Epstein-Barr Virus-Transformed Lymphoblastoid Cell Lines and Fibroblasts

H. Kremer, H. Bokhoven, A. Brouwer, 2012, Molecular Diagnosis & Therapy.

Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction

L. Vissers, I. Fajardy, D. Sharon, 2023, HGG advances.

The natural history of hereditary neuralgic amyotrophy in the Dutch population: two distinct types?

F. Gabreëls, N. van Alfen, H. Kremer, 2000, Brain : a journal of neurology.

Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene.

E. Lane, H. Kremer, H. Ropers, 1994, The Journal of investigative dermatology.

Acetazolamide in dominant cystoid macular dystrophy

J. Cruysberg, H. Kremer, A. Pinckers, 1993 .

X-linked mental retardation: evidence for a recent mutation in a five-generation family (MRX65) linked to the pericentromeric region.

E. Mariman, H. Kremer, H. van Bokhoven, 1999, American journal of medical genetics.

Four families (MRX43, MRX44, MRX45, MRX52) with nonspecific X-linked mental retardation: clinical and psychometric data and results of linkage analysis.

E. Mariman, H. Kremer, H. Ropers, 1999, American journal of medical genetics.

MPP1 links the Usher protein network and the Crumbs protein complex in the retina.

E. Krieger, S. Letteboer, R. Roepman, 2007, Human molecular genetics.

The Ciliopathy Protein CC2D2A Associates with NINL and Functions in RAB8-MICAL3-Regulated Vesicle Trafficking

L. Hetterschijt, R. Roepman, M. Ueffing, 2015, PLoS genetics.

Longitudinal Phenotypic Analysis in Patients with Connexin 26 (GJB2) (DFNB1) and Connexin 30 (GJB6) Mutations

C. Cremers, E. van Wijk, H. Kremer, 2004, The Annals of otology, rhinology, and laryngology.

A new X linked neurodegenerative syndrome with mental retardation, blindness, convulsions, spasticity, mild hypomyelination, and early death maps to the pericentromeric region

P. Wesseling, H. Kremer, H. Ropers, 1999, Journal of medical genetics.

Localisation of a gene for non-specific X linked mental retardation (MRX46) to Xq25-q26.

H. Kremer, H. van Bokhoven, A. Smits, 1998, Journal of medical genetics.

Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant

E. van Wijk, H. Kremer, F. Cremers, 2022, npj Genomic Medicine.

Antisense oligonucleotide-based treatment of retinitis pigmentosa caused by USH2A exon 13 mutations

E. van Wijk, H. Kremer, P. Adamson, 2021, Molecular therapy : the journal of the American Society of Gene Therapy.

Poor Splice-Site Recognition in a Humanized Zebrafish Knockin Model for the Recurrent Deep-Intronic c.7595-2144A>G Mutation in USH2A.

L. Hetterschijt, E. van Wijk, T. Peters, 2018, Zebrafish.

CLRN1 mutations cause nonsyndromic retinitis pigmentosa.

A. D. den Hollander, F. Kersten, J. Keunen, 2011, Ophthalmology.

A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions.

F. Mastaglia, H. Kremer, N. Laing, 2003, Brain : a journal of neurology.

Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss

H. Brunner, H. Kremer, F. Cremers, 2005, Human mutation.

Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss.

N. Guex, J. Chrast, A. Reymond, 2021, Human molecular genetics.

Hearing impairment in Dutch patients with connexin 26 (GJB2) and connexin 30 (GJB6) mutations.

C. Cremers, H. Kremer, L. Hoefsloot, 2005, International journal of pediatric otorhinolaryngology.

NINL and DZANK1 Co-function in Vesicle Transport and Are Essential for Photoreceptor Development in Zebrafish

T. Gibson, L. Hetterschijt, R. Roepman, 2015, PLoS genetics.

Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment

H. Kremer, F. Denoyelle, G. Girotto, 2023, Audiology research.

Identification and molecular modelling of a mutation in the motor head domain of myosin VIIA in a family with autosomal dominant hearing impairment (DFNA11)

C. Cremers, E. Krieger, H. Brunner, 2004, Human Genetics.

Mutations in the lipoma HMGIC fusion partner‐like 5 (LHFPL5) gene cause autosomal recessive nonsyndromic hearing loss

C. Cremers, T. Strom, A. D. den Hollander, 2006, Human mutation.

Mutations in the calcium-binding motifs of CDH23 and the 35delG mutation in GJB2 cause hearing loss in one family

C. Cremers, A. Deutman, H. Kremer, 2003, Human Genetics.

A gene for nonspecific X-linked mental retardation (MRX41) is located in the distal segment of Xq28.

E. Mariman, H. Kremer, B. Hamel, 1996, American journal of medical genetics.

Whirlin associates with the Ca v 1.3 ( 1D ) channels in photoreceptors, defining a novel member of the Usher protein network

R. Roepman, U. Wolfrum, Tina Märker, 2009 .

Regulation and expression of the murine Pmp22 gene

E. Mariman, F. Gabreëls, H. Kremer, 1999, Mammalian Genome.

[From gene to disease; genetic causes of hearing loss and visual impairment sometimes accompanied by vestibular problems (Usher syndrome)].

C. Cremers, A. Deutman, H. Kremer, 2002, Nederlands tijdschrift voor geneeskunde.

An atypical form of bullous congenital ichthyosiform erythroderma is caused by a mutation in the L12 linker region of keratin 1.

E. Lane, H. Kremer, D. Ruiter, 1998, The Journal of investigative dermatology.

A protein domain-oriented approach to expand the opportunities of therapeutic exon skipping for USH2A-associated retinitis pigmentosa

E. van Wijk, H. Kremer, H. Venselaar, 2023, Molecular therapy. Nucleic acids.

The benign concentric annular macular dystrophy locus maps to 6p12.3-q16.

A. Deutman, H. Kremer, F. Cremers, 2004, Investigative ophthalmology & visual science.

Familial aggregation of tinnitus: a European multicentre study.

T. Wienker, H. Kremer, D. Stephens, 2007, B-ENT.

Molecular Genetics of Usher Syndrome: Current State of Understanding

H. Kremer, E. Wijk, Ralph Slijkerman, 2017 .

Molecular Genetics of Usher Syndrome

H. Kremer, E. Wijk, 2009 .

A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family

H. Kremer, S. Siddiqi, Saba Munawar, 2014, Journal of Human Genetics.

Analysis of Rotterdam Study cohorts confirms a previously identified RIPOR2 in-frame deletion as a prevalent genetic factor in phenotypically variable adult-onset hearing loss (DFNA21) in the Netherlands

H. Kremer, A. Goedegebure, R. Pennings, 2023, Journal of Medical Genetics.

Y chromosomal fertility genes of Drosophila: a new type of eukaryotic genes.

R. Hochstenbach, H. Kremer, J. Hackstein, 1989, Genome.

Multiple enhancers located in a 1-Mb region upstream of POU3F4 promote expression during inner ear development and may be required for hearing.

H. Kremer, J. Economides, J. Gómez-Skarmeta, 2010, Human genetics.

SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma

S. Gygi, C. Cremers, P. Devilee, 2009, Science.

Variants affecting diverse domains of MEPE are associated with two distinct bone disorders, a craniofacial bone defect and otosclerosis

A. Hoischen, C. Cremers, H. Kremer, 2018, Genetics in Medicine.

Mutations in OTOGL, encoding the inner ear protein otogelin-like, cause moderate sensorineural hearing loss.

Juan I. Young, M. Tekin, Huawei Li, 2012, American journal of human genetics.

Generation and Characterization of a Zebrafish Model for ADGRV1-Associated Retinal Dysfunction Using CRISPR/Cas9 Genome Editing Technology

E. van Wijk, H. Kremer, Theo Peters, 2023, Cells.