I. Ebermann

发表

A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss

E. Aller, I. Ebermann, H. Scholl, 2007, Human Genetics.

Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations

I. Ebermann, R. Heller, G. Nürnberg, 2013, European Journal of Human Genetics.

A novel VPS13B mutation in two brothers with Cohen syndrome, cutis verticis gyrata and sensorineural deafness

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

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.

Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.

M. Westerfield, I. Ebermann, H. Bolz, 2015, Human molecular genetics.

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.

Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population

M. Bitner-Glindzicz, I. Ebermann, I. Lopez, 2007, Genome Biology.

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.

Localization of Usher 1 proteins to the photoreceptor calyceal processes, which are absent from mice

J. Sahel, C. Petit, D. Weil, 2012, The Journal of cell biology.

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.

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.

GPR98 mutations cause Usher syndrome type 2 in males

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

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.

DOUBLE HOMOZYGOSITY FOR MUTATIONS OF AGL AND SCN9A MIMICKING NEUROHEPATOPATHY SYNDROME

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

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.

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 .

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

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

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.