D. Schorderet

发表

Frequency and impact of autosomal dominant polycystic kidney disease in the Seychelles (Indian Ocean).

F. Paccaud, P. Bovet, J. Wauters, 1997, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

CRYBA3/A1 gene mutation associated with suture-sparing autosomal dominant congenital nuclear cataract: a novel phenotype.

D. Schorderet, E. Héon, W. Ferrini, 2004, Investigative ophthalmology & visual science.

Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene

Ahmed Rebai, D. Schorderet, S. Abdelhak, 2011, Journal of Human Genetics.

IB1 Reduces Cytokine-induced Apoptosis of Insulin-secreting Cells*

G. Waeber, D. Schorderet, P. Nicod, 2000, The Journal of Biological Chemistry.

Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.

E. Zrenner, W. Berger, D. Schorderet, 2006, American journal of human genetics.

VAX1 mutation associated with microphthalmia, corpus callosum agenesis, and orofacial clefting: The first description of a VAX1 phenotype in humans

G. Shaw, A. Slavotinek, D. Schorderet, 2012, Human mutation.

ALDH1A3 loss of function causes bilateral anophthalmia/microphthalmia and hypoplasia of the optic nerve and optic chiasm.

H. Baier, A. Slavotinek, D. Schorderet, 2013, Human molecular genetics.

Mutations in ALDH1A3 Represent a Frequent Cause of Microphthalmia/Anophthalmia in Consanguineous Families

D. Schorderet, F. Munier, T. Favez, 2014, Human mutation.

The human pseudoautosomal GM-CSF receptor alpha subunit gene is autosomal in mouse.

D. Adler, C. Disteche, N. Copeland, 1992, Nature genetics.

The human pseudoautosomal GM–CSF receptor α subunit gene is autosomal in mouse

Daniel F. Schorderet, Nancy A. Jenkins, Neal G. Copeland, 1992, Nature Genetics.

Kerato-epithelin mutations in four 5q31-linked corneal dystrophies.

D. Schorderet, F. Munier, L. Zografos, 1997 .

Guidelines for the use and interpretation of assays formonitoring autophagy (3rd edition)

Sangeeta Khare, Xin Qi, Ying Wang, 2016 .

D‐TAT transporter as an ocular peptide delivery system

Y. Arsenijévic, D. Schorderet, C. Bonny, 2005, Clinical & experimental ophthalmology.

Eight previously unidentified mutations found in the OA1 ocular albinism gene

D. Lacombe, D. Bonneau, H. Dollfus, 2006, BMC Medical Genetics.

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

W. Berger, E. Laczko, D. Schorderet, 2013, Human molecular genetics.

Higher retinal vessel oxygen saturation: investigating its relationship with macular oedema in retinitis pigmentosa patients

D. Schorderet, A. Schoetzau, M. Todorova, 2018, Eye.

Metabolic and functional changes in retinitis pigmentosa: comparing retinal vessel oximetry to full‐field electroretinography, electrooculogram and multifocal electroretinography

A. Schötzau, D. Schorderet, M. Todorova, 2016, Acta ophthalmologica.

Retinal vessel oxygen saturation and its correlation with structural changes in retinitis pigmentosa

Josef Flammer, Selim Orgül, S. Orgül, 2014, Acta ophthalmologica.

Bmi1 Loss Produces an Increase in Astroglial Cells and a Decrease in Neural Stem Cell Population and Proliferation

C. Kostic, Y. Arsenijévic, D. Schorderet, 2005, The Journal of Neuroscience.

Autosomal-recessive posterior microphthalmos is caused by mutations in PRSS56, a gene encoding a trypsin-like serine protease.

H. Fledelius, T. Rosenberg, D. Schorderet, 2011, American journal of human genetics.

Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family

P. Gouras, N. Mermod, R. Allikmets, 2009, Human mutation.

The γ-Crystallins and Human Cataracts: A Puzzle Made Clearer

D. Schorderet, E. Héon, F. Munier, 1999 .

Identification of novel VMD2 gene mutations in patients with best vitelliform macular dystrophy

D. Schorderet, F. Munier, J. Dufier, 2001, Human mutation.

Essential Role for Pbx 1 in Corneal Morphogenesis

Mark J. Murphy, M. Cleary, D. Schorderet, 2010 .

Essential role for Pbx1 in corneal morphogenesis.

Mark J. Murphy, M. Cleary, D. Schorderet, 2010, Investigative ophthalmology & visual science.

Premature Vertebral Mineralization in hmx1-Mutant Zebrafish

D. Schorderet, N. Allaman-Pillet, Y. El Fersioui, 2022, Cells.

[Genotype-phenotype correlation in ten Tunisian families with non-syndromic retinitis pigmentosa].

D. Schorderet, F. Munier, L. el Matri, 2016, Journal francais d'ophtalmologie.

Hmx1 regulates urfh1 expression in the craniofacial region in zebrafish

D. Schorderet, N. Allaman-Pillet, Y. El Fersioui, 2021, PloS one.

Zebrafish hmx1 promotes retinogenesis.

D. Schorderet, G. Boisset, 2012, Experimental eye research.

A subset of patients with epithelial basement membrane corneal dystrophy have mutations in TGFBI/BIGH3

D. Schorderet, F. Munier, G. Black, 2006, Human mutation.

RAX and anophthalmia in humans: Evidence of brain anomalies

P. Hauser, D. Schorderet, H. Abouzeid, 2012, Molecular vision.

Deposits of Transforming Growth Factor-β-Induced Protein in Granular Corneal Dystrophy Type II After LASIK

S. J. Kang, H. Grossniklaus, D. Schorderet, 2008, Cornea.

Phenotypic Progression of Stargardt Disease in a Large Consanguineous Tunisian Family Harboring New ABCA4 Mutations

D. Schorderet, L. el Matri, A. Chebil, 2018, Journal of ophthalmology.

Mutations in the SPARC-related modular calcium-binding protein 1 gene, SMOC1, cause waardenburg anophthalmia syndrome.

D. Schorderet, P. Descombes, F. Munier, 2011, American journal of human genetics.

The Bcl-2/Bcl-XL inhibitor ABT-737 promotes death of retinoblastoma cancer cells

D. Schorderet, F. Munier, A. Oberson, 2013, Ophthalmic genetics.

Bigh3 is upregulated in regenerating zebrafish fin.

D. Schorderet, B. Polok, L. Page, 2013, Zebrafish.

Bietti crystalline corneoretinal dystrophy is caused by mutations in the novel gene CYP4V2.

M. Kaiser-Kupfer, J. Heckenlively, D. Schorderet, 2004, American journal of human genetics.

Mutation analysis of KIF21A in congenital fibrosis of the extraocular muscles (CFEOM) patients

D. Schorderet, F. Munier, L. Tiab, 2004, Ophthalmic genetics.

Identification of four new PITX2 gene mutations in patients with Axenfeld-Rieger syndrome.

C. Orssaud, D. Schorderet, F. Munier, 2006, Molecular vision.

Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14

T. Landis, P. Burkhard, J. Ghika, 2002, Neurology.

Phenotypic expression of a Pro 87 to Leu mutation in the connexin 32 gene in a large Swiss family with Charcot–Marie–Tooth neuropathy

J. Bogousslavsky, J. Vallat, D. Schorderet, 2003, Journal of the Neurological Sciences.

Analysis of Inherited Optic Neuropathies

A. Schaller, D. Schorderet, M. Todorova, 2019, Klinische Monatsblätter für Augenheilkunde.

Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1

D. Stephan, S. Melquist, M. Farrer, 2008, Neurology.

High rate of recombination and double crossovers in the mouse pseudoautosomal region during male meiosis.

R. Jaenisch, Philippe Soriano, D. Schorderet, 1987, Proceedings of the National Academy of Sciences of the United States of America.

Full characterization of the maculopathy associated with an Arg-172-Trp mutation in the RDS/peripherin gene.

V. Sheffield, E. Stone, D. Schorderet, 1996, Ophthalmic genetics.

Allelic variation in the VMD2 gene in best disease and age-related macular degeneration.

V. Sheffield, S. Jacobson, G. Fishman, 2000, Investigative ophthalmology & visual science.

IROme, a new high-throughput molecular tool for the diagnosis of inherited retinal dystrophies-a price comparison with Sanger sequencing.

D. Schorderet, T. Favez, L. Tiab, 2014, Advances in experimental medicine and biology.

Novel ADAM9 homozygous mutation in a consanguineous Egyptian family with severe cone-rod dystrophy and cataract

D. Schorderet, T. Favez, H. Abouzeid, 2014, British Journal of Ophthalmology.

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.

W. Huttner, D. Hunt, C. Lillo, 2008, The Journal of clinical investigation.

Double concentric autofluorescence ring in NR2E3-p.G56R-linked autosomal dominant retinitis pigmentosa.

D. Schorderet, F. Munier, V. Vaclavik, 2012, Investigative ophthalmology & visual science.

Retinopathy in Danon disease.

D. Schorderet, J. Lobrinus, F. Munier, 2007, Archives of ophthalmology.

Calcium- and Proteasome-dependent Degradation of the JNK Scaffold Protein Islet-brain 1*

J. Beckmann, D. Schorderet, P. Nicod, 2003, Journal of Biological Chemistry.

Evidence of somatic and germinal mosaicism in pseudo-low-penetrant hereditary retinoblastoma, by constitutional and single-sperm mutation analysis.

D. Schorderet, F. Munier, F. Pellestor, 1998, American journal of human genetics.

Year : 2009 Genotyping Microarray for CSNB-Associated Genes

J. Sahel, B. Lorenz, E. Zrenner, 2010 .

Genotyping microarray for CSNB-associated genes.

J. Sahel, B. Lorenz, E. Zrenner, 2009, Investigative ophthalmology & visual science.

TGFBI gene transcript is transforming growth factor-ß1-responsive and cell density-dependent in a human corneal epithelial cell line

D. Schorderet, F. Munier, Ming X. Wang, 2002, Ophthalmic genetics.

Acute Hypoglycemia Induces Retinal Cell Death in Mouse

D. Schorderet, R. Roduit, M. Emery, 2011, PloS one.

Molecular Analysis of Phenylketonuria (PKU) in

D. Schorderet, M. Drummond-Borg, J. Garcia‐Heras, 2001 .

Identification of the minimal promoter region of the mouse NKX5-3, a transcription factor implicated in eye development.

D. Schorderet, O. Nichini, 2008, Gene.

PAX6 aniridia and interhemispheric brain anomalies

P. Hauser, D. Schorderet, F. Munier, 2009, Molecular vision.

Three new PAX6 mutations including one causing an unusual ophthalmic phenotype associated with neurodevelopmental abnormalities

D. Schorderet, K. Bigot, A. Penfornis, 2007, Molecular vision.

Different Phenotypes in Pseudodominant Inherited Retinal Dystrophies

D. Schorderet, H. V. Tran, L. el Matri, 2021, Frontiers in Cell and Developmental Biology.

Absence of methylation at HpaII sites in three human genomic tRNA sequences.

D. Schorderet, S. Gartler, 1990, Nucleic acids research.

Inactivation and reactivation of sex-linked steroid sulfatase gene in murine cell culture

D. Schorderet, S. Gartler, P. Dubois, 1988, Somatic cell and molecular genetics.

Linkage of autosomal dominant radial drusen (malattia leventinese) to chromosome 2p16-21.

V. Sheffield, E. Stone, D. Schorderet, 1996, Archives of ophthalmology.

Activity analysis of housekeeping promoters using self-inactivating lentiviral vector delivery into the mouse retina

M. Wiznerowicz, C. Kostic, Y. Arsenijévic, 2003, Gene Therapy.

Systemic investigation of keratoepithelin deposits in TGFBI/BIGH3-related corneal dystrophy.

D. Schorderet, S. Uffer, F. Munier, 2006, Molecular vision.

Genomic characterization and embryonic expression of the mouse Bigh3 (Tgfbi) gene.

D. Schorderet, C. Bonny, F. Munier, 2000, Biochemical and biophysical research communications.

Mutation hot spots in 5q31-linked corneal dystrophies.

W. Culbertson, D. Schorderet, S. Uffer, 1998, American journal of human genetics.

Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F‐mediated inherited retinal disorders

J. Sahel, C. Jubin, T. de Ravel, 2019, Human mutation.

Corneal Dystrophies: Overview and Summary.

D. Schorderet, 2015, Progress in molecular biology and translational science.

Meesmann Corneal Dystrophy (MECD): Report of 2 Families and a Novel Mutation in the Cornea Specific Keratin 12 (KRT12) Gene

D. Schorderet, F. Munier, V. D. Manzi, 2005, Ophthalmic genetics.

Genotype-Phenotype Correlations in the Fragile X Syndrome, Using Direct Diagnosis with Probe StB 12.3: The First 2,253 Cases

P. Jacobs, D. Schorderet, F. Rousseau, 2007 .

Complex chromosome rearrangement in a girl with an incomplete form of Beckwith-Wiedemann syndrome.

F. Gudinchet, A. Zankl, D. Schorderet, 2000, American journal of medical genetics.

Gene localization for aculeiform cataract, on chromosome 2q33-35.

D. Schorderet, E. Héon, F. Munier, 1998, American journal of human genetics.

Genomic organization, fine-mapping, and expression of the human islet-brain 1 (IB1)/c-Jun-amino-terminal kinase interacting protein-1 (JIP-1) gene.

V. Mooser, G. Waeber, D. Yarnall, 1999, Genomics.

Characterization of pip5k3 fleck corneal dystrophy-linked gene in zebrafish.

D. Schorderet, B. Polok, G. Boisset, 2008, Gene expression patterns : GEP.

A progressive autosomal recessive cataract locus maps to chromosome 9q13-q22.

A. Paterson, T. Hudson, A. Verner, 2001, American journal of human genetics.

MAP kinase pathways in UV-induced apoptosis of retinal pigment epithelium ARPE19 cells

D. Schorderet, R. Roduit, 2008, Apoptosis.

Retinal ischemia-induced apoptosis is associated with alteration in Bax and Bcl-xL expression rather than modifications in Bak and Bcl-2

C. Pournaras, D. Schorderet, N. Produit-Zengaffinen, 2009, Molecular vision.

Bax-Induced Apoptosis in Leber's Congenital Amaurosis: A Dual Role in Rod and Cone Degeneration

D. Schorderet, S. Cottet, S. Hamann, 2009, PloS one.

Induction of apoptosis in human corneal and HeLa cells by mutated BIGH3.

Y. Arsenijévic, D. Schorderet, C. Bonny, 2003, Investigative ophthalmology & visual science.

Induction of Apoptosis in Human Corneal and HeLa Cells by Mutated BIGH 3

Y. Arsenijévic, D. Schorderet, C. Bonny, 2003 .

A peptide inhibitor of c-Jun N-terminal kinase protects against excitotoxicity and cerebral ischemia

A. Vercelli, J. Bogousslavsky, M. Repici, 2003, Nature Medicine.

JNK Inhibition Reduced Retinal Ganglion Cell Death after Ischemia/Reperfusion In Vivo and after Hypoxia In Vitro.

C. Pournaras, D. Schorderet, T. Favez, 2016, Advances in experimental medicine and biology.

BIGH3 mutation spectrum in corneal dystrophies.

B. Lorenz, Y. Arsenijévic, D. Schorderet, 2002, Investigative ophthalmology & visual science.

Mutation update: TGFBI pathogenic and likely pathogenic variants in corneal dystrophies

D. Schorderet, J. Zenteno, V. Kheir, 2019, Human mutation.

A novel PIKFYVE mutation in fleck corneal dystrophy

D. Schorderet, M. Petersen, K. Droutsas, 2011, Molecular vision.

TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings

F. Tost, D. Schorderet, G. Duncker, 2008, British Journal of Ophthalmology.

Keratoepithelin in secondary corneal amyloidosis

D. Schorderet, F. Munier, K. Loeffler, 2004, Graefe's Archive for Clinical and Experimental Ophthalmology.

Autophagy induction does not protect retina against apoptosis in ischemia/reperfusion model.

C. Pournaras, D. Schorderet, N. Produit-Zengaffinen, 2014, Advances in experimental medicine and biology.

CRX-linked macular dystrophy with intrafamilial variable expressivity

D. Schorderet, F. Munier, V. Vaclavik, 2018, Ophthalmic genetics.

Classification of corneal dystrophies on a molecular genetic basis

D. Schorderet, F. Munier, 2008 .

Further delineation of the facial 13q14 deletion syndrome in 13 retinoblastoma patients

D. Schorderet, G. Pescia, F. Munier, 2001, Ophthalmic genetics.

Analysis of the Cytoprotective Role of α-Crystallins in Cell Survival and Implication of the αA-Crystallin C-Terminal Extension Domain in Preventing Bax-Induced Apoptosis

D. Schorderet, S. Cottet, S. Hamann, 2013, PloS one.

Compound Heterozygous VSX2 Mutation Causing Bilateral Anophthalmia in a Consanguineous Egyptian Family

D. Schorderet, F. Munier, H. Abouzeid, 2015 .

Franceschetti hereditary recurrent corneal erosion.

D. Schorderet, U. Pleyer, F. Munier, 2012, American journal of ophthalmology.

Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.

E. Chouery, A. Mégarbané, D. Schorderet, 2009, American journal of human genetics.

Tgfbi/Bigh3 silencing activates ERK in mouse retina.

D. Schorderet, E. Hummler, A. Oberson, 2015, Experimental eye research.

Early apoptosis of rod photoreceptors in Rpe65(-/-) mice is associated with the upregulated expression of lysosomal-mediated autophagic genes.

D. Schorderet, S. Cottet, S. Métrailler, 2012, Experimental eye research.

Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy

D. Schorderet, F. Munier, G. Klintworth, 2002, Human Genetics.

Familial subepithelial corneal amyloidosis (gelatinous drop-like corneal dystrophy): exclusion of linkage to lactoferrin gene.

M. Qumsiyeh, J. Sugar, M. Kaiser-Kupfer, 1998, Molecular vision.

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.

A. Wright, V. Vitart, D. Armstrong, 2014, Human molecular genetics.

Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy.

V. Sheffield, M. Batterbury, E. Stone, 2001, Human molecular genetics.

The gene mutated in thiamine-responsive anaemia with diabetes and deafness (TRMA) encodes a functional thiamine transporter

Ellis J. Neufeld, Daniel F. Schorderet, E. Neufeld, 1999, Nature Genetics.

Mutations in PIP5K3 are associated with François-Neetens mouchetée fleck corneal dystrophy.

D. Schorderet, X. Jiao, J. Hejtmancik, 2005, American journal of human genetics.

Genetic linkage of Francois-Neetens fleck (mouchetée) corneal dystrophy to chromosome 2q35

D. Schorderet, X. Jiao, J. Hejtmancik, 2003, Human Genetics.

Kerato-epithelin mutations in four 5q31-linked corneal dystrophies

D. Paslier, D. Schorderet, G. Pescia, 1997, Nature Genetics.

Clinical and immunopathological corneal phenotype in homozygotes for the BIGH3 R124H mutation

D. Schorderet, F. Munier, P. Chaubert, 2005, Eye.

Amyloid and Non-amyloid Forms of 5q31-linked Corneal Dystrophy Resulting from Kerato-epithelin Mutations at Arg-124 Are Associated with Abnormal Turnover of the Protein*

D. Schorderet, H. Henry, F. Munier, 2000, The Journal of Biological Chemistry.

[Early recurrence of Groenouw type I corneal dystrophy after phototherapeutic keratectomy. Molecular biology study suggests epithelial genesis].

B. Dastugue, D. Schorderet, F. Chiambaretta, 2004, Journal francais d'ophtalmologie.

On the role of kerato-epithelin in the pathogenesis of 5q31-linked corneal dystrophies.

D. Schorderet, S. Uffer, F. Munier, 1999, Investigative ophthalmology & visual science.

Delineation of a 1-cM Region on Distal 5q Containing the Locus for Corneal Dystrophies Groenouw Type I and Lattice Type I and Exclusion of the Candidate Genes SPARC and LOX

D. Schorderet, G. Pescia, S. Uffer, 1996, European journal of human genetics : EJHG.

De novo mutation in the BIGH3/TGFB1 gene causing granular corneal dystrophy

D. Schorderet, F. Munier, G. Black, 2007, British Journal of Ophthalmology.

Genetic heterogeneity of the Coppock-like cataract: a mutation in CRYBB2 on chromosome 22q11.2.

R. Klose, D. Schorderet, E. Héon, 2000, Investigative ophthalmology & visual science.

The gamma-crystallins and human cataracts: a puzzle made clearer.

D. Schorderet, E. Héon, F. Munier, 1999, American journal of human genetics.

Ultrastructural and molecular analysis of Bowman's layer corneal dystrophies: an epithelial origin?

H. Stewart, M. Dixon, D. Schorderet, 2000, Investigative ophthalmology & visual science.

Hereditary lattice corneal dystrophy is associated with corneal amyloid deposits enclosing C-terminal fragments of keratoepithelin.

M. Zacharias, J. Rüschoff, A. Roessner, 2005, Investigative ophthalmology & visual science.

PRENATAL DIAGNOSIS OF LAMELLAR ICHTHYOSIS BY DIRECT MUTATIONAL ANALYSIS OF THE KERATINOCYTE TRANSGLUTAMINASE GENE

D. Hohl, D. Schorderet, M. Huber, 1997, Prenatal diagnosis.

Dental Phenotype in Jalili Syndrome Due to a c.1312 dupC Homozygous Mutation in the CNNM4 Gene

D. Schorderet, C. Gerth-Kahlert, H. Luder, 2013, PloS one.

Posterior staphylomas in non-highly myopic eyes with retinitis pigmentosa

D. Schorderet, L. el Matri, K. El Matri, 2020, International Ophthalmology.

Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion.

D. Bick, C. Curry, D. Schorderet, 1989, American journal of medical genetics.

Prognostic factors associated with loss of heterozygosity at the RB1 locus in retinoblastoma.

G. van Melle, D. Schorderet, E. Héon, 1997, Ophthalmic genetics.

Progressive onset of adrenal insufficiency and hypogonadism of pituitary origin caused by a complex genetic rearrangement within DAX-1.

D. Schorderet, J. Jameson, F. Pralong, 2002, The Journal of clinical endocrinology and metabolism.

Steroid Sulphatase Inactivation Patterns and X-chromosome Inactivation

D. Schorderet, S. Gartler, 1990 .

Retinal stem cells transplanted into models of late stages of retinitis pigmentosa preferentially adopt a glial or a retinal ganglion cell fate.

M. Naash, Y. Arsenijévic, D. Schorderet, 2007, Investigative ophthalmology & visual science.

Phenotype of three consanguineous Tunisian families with early-onset retinal degeneration caused by an R91W homozygous mutation in the RPE65 gene

A. Wenzel, M. Seeliger, Y. Arsenijévic, 2006, Graefe's Archive for Clinical and Experimental Ophthalmology.

Cell-permeable peptide inhibitors of JNK: novel blockers of beta-cell death.

D. Schorderet, C. Bonny, A. Oberson, 2001, Diabetes.

Cell-Permeable Peptide Inhibitors of JNK: Novel Blockers of β-Cell Death

D. Schorderet, C. Bonny, A. Oberson, 2001 .

A Male with Unilateral Microphthalmia Reveals a Role for TMX3 in Eye Development

Allen D. Delaney, H. Baier, P. Kwok, 2010, PloS one.

Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.

Olivier Poch, Sabine Defoort-Dhellemmes, Xavier Zanlonghi, 2012, American journal of human genetics.

TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.

T. Léveillard, J. Sahel, S. Jacobson, 2009, American journal of human genetics.

cDNA cloning and mapping of a novel islet-brain/JNK-interacting protein.

D F Schorderet, G. Waeber, D. Schorderet, 2000, Genomics.

Methylation Silencing and Mutations of the p14ARF and p16INK4a Genes in Colon Cancer

F. Bosman, P. Shaw, D. Schorderet, 2001, Laboratory Investigation.

Mutation in the human homeobox gene NKX5-3 causes an oculo-auricular syndrome.

D. Schorderet, F. Munier, L. Tiab, 2008, American journal of human genetics.

Identifying mutations in Tunisian families with retinal dystrophy

D. Schorderet, L. el Matri, N. Allaman-Pillet, 2016, Scientific Reports.

Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147

T. Wong, W. Berger, Ching-Yu Cheng, 2017, Human molecular genetics.

Adrenal Mass in Carney Triad

R. Meuli, V. Bettschart, D. Schorderet, 2001 .

Robinow syndrome in two siblings from consanguineous parents

M. Morris, D. Schorderet, S. Dahoun, 1992, European Journal of Pediatrics.

New VMD2 gene mutations identified in patients affected by Best vitelliform macular dystrophy

V. Drouin‐Garraud, D. Bonneau, R. Fischmeister, 2006, Journal of Medical Genetics.

Large Family With Maturity‐Onset Diabetes of the Young and a Novel V121I Mutation in HNF4A

D. Schorderet, P. Cousin, C. Bonny, 2002, Human mutation.

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.

C. Klaver, C. Rivolta, P. Farinelli, 2016, Human molecular genetics.

Nuclear Receptor Rev-erb Alpha (Nr1d1) Functions in Concert with Nr2e3 to Regulate Transcriptional Networks in the Retina

Daniel Schorderet, D. Schorderet, Désirée von Alpen, 2011, PloS one.

A new locus for congenital cataract, microcornea, microphthalmia, and atypical iris coloboma maps to chromosome 2.

D. Schorderet, F. Meire, F. Munier, 2009, Ophthalmology.

Comparative transcriptome profiling of the injured zebrafish and mouse hearts identifies miRNA-dependent repair pathways

I. Xenarios, K. Harshman, D. Schorderet, 2016, Cardiovascular research.

Bigh3 silencing increases retinoblastoma tumor growth in the murine SV40-TAg-Rb model

D. Schorderet, A. Oberson, N. Allaman-Pillet, 2017, Oncotarget.

Triggering of Bcl-2-related pathway is associated with apoptosis of photoreceptors in Rpe65−/− mouse model of Leber’s Congenital Amaurosis

D. Schorderet, S. Cottet, 2008, Apoptosis.

Keratoepithelin suppresses the progression of experimental human neuroblastomas.

D. Schorderet, A. Schramm, Lothar Schweigerer, 2006, Cancer research.

Methylation status of CpG sites and methyl-CpG binding proteins are involved in the promoter regulation of the mouse Xist gene.

D. Schorderet, C. Bonny, A. Djemaï, 1998, Gene expression.

Overexpression of a mutant form of TGFBI/BIGH3 induces retinal degeneration in transgenic mice

Y. Arsenijévic, D. Schorderet, T. Pedrazzini, 2008, Molecular vision.

Lentiviral vector-mediated gene transfer in adult mouse photoreceptors is impaired by the presence of a physical barrier

C. Kostic, Y. Arsenijévic, Maria-Thereza R. Perez, 2005, Gene Therapy.

A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy

V. Sheffield, D. Mackey, R. Swiderski, 1999, Nature Genetics.

Estimation of the Mutation Frequencies in Charcot-Marie-Tooth Disease Type 1 and Hereditary Neuropathy with Liability to Pressure Palsies: A European Collaborative Study

X. Estivill, E. Mariman, N. Archidiacono, 1996, European journal of human genetics : EJHG.

Analysis of CpG suppression in methylated and nonmethylated species.

D. Schorderet, S. Gartler, 1992, Proceedings of the National Academy of Sciences of the United States of America.

Zebrafish: Housing and husbandry recommendations

Peter Aleström, Stefan Schulte-Merker, D. Schorderet, 2019, Laboratory animals.

Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration

Y. Arsenijévic, D. Schorderet, D. Chung, 2002, Proceedings of the National Academy of Sciences of the United States of America.

IROme, a New High-Throughput Molecular Tool for the Diagnosis of Inherited Retinal Dystrophies

D. Schorderet, T. Favez, L. Tiab, 2012, BioMed research international.

A characteristic EEG pattern in 4p-syndrome: case report and review of the literature

M. Maeder-Ingvar, A. Zankl, D. Schorderet, 2001, European Journal of Pediatrics.

Variation of codons 1961 and 2177 of the Stargardt disease gene is not associated with age-related macular degeneration.

D F Schorderet, V. Sheffield, E. Stone, 2001, Archives of ophthalmology.

Unilateral macular oedema in Zermatt and Stargardt macular dystrophies

D. Schorderet, F. Munier, H. Abouzeid, 2008, British Journal of Ophthalmology.

Hypoglycemia and Retinal Cell Death

D. Schorderet, M. Ibberson, R. Roduit, 2014 .

Mutations in the Spliceosome Component CWC27 Cause Retinal Degeneration with or without Additional Developmental Anomalies.

R. Pfundt, H. Le Hir, P. Stoilov, 2017, American journal of human genetics.

Variable phenotypic expressivity in a Swiss family with autosomal dominant retinitis pigmentosa due to a T494M mutation in the PRPF3 gene

D. Schorderet, F. Munier, V. Vaclavik, 2010, Molecular vision.

Epidermal Growth Factor Is a Neuronal Differentiation Factor for Retinal Stem Cells In Vitro

Y. Arsenijévic, D. Schorderet, B. Angénieux, 2006, Stem cells.

Linkage of the steroid sulfatase gene to the sex-reversed mutation in the mouse.

D. Schorderet, S. Gartler, E. Keitges, 1987, Genetics.

The 5' repeat elements of the mouse Xist gene inhibit the transcription of X-linked genes.

D. Schorderet, C. Bonny, A. Djemaï, 2001, Gene expression.

Characterization of the promoter region of the mouse Xist gene.

D. Schorderet, C. Bonny, N. Pillet, 1995, Proceedings of the National Academy of Sciences of the United States of America.

Molecular characterization of the deletion in retinoblastoma patients with 13q14 cytogenetic anomalies

D. Schorderet, P. Cousin, F. Munier, 2001, Ophthalmic genetics.

Autophagy Defect Is Associated with Low Glucose-Induced Apoptosis in 661W Photoreceptor Cells

J. Auwerx, J. Puyal, V. Ginet, 2013, PloS one.

Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion

R. W. Huff, L. Shapiro, D. Bick, 1992, Prenatal diagnosis.

A novel dominant mutation of the Nav1.4 α-subunit domain I leading to sodium channel myotonia

J. Burgunder, D. Schorderet, L. Tiab, 2008, Neurology.

Rearrangements of minisatellites in the human telomerase reverse transcriptase gene are not correlated with its expression in colon carcinomas

J. Lingner, R. Reddel, D. Schorderet, 2001, Oncogene.

LodIRO: Helping Linkage Based Eye Research Go Faster

S. Bolay, E. Bagnoud, D. Puippe, 2007 .

Genetic spectrum of retinal dystrophies in Tunisia

D. Schorderet, L. el Matri, K. El Matri, 2020, Scientific Reports.

Genetic linkage of Bietti crystallin corneoretinal dystrophy to chromosome 4q35.

M. Kaiser-Kupfer, D. Schorderet, A. Kanai, 2000, American journal of human genetics.

Ten novel RB1 gene mutations in patients with retinoblastoma.

D. Schorderet, F. Munier, H. Abouzeid, 2007, Molecular vision.

Mutation in the gene for connexin 30.3 in a family with erythrokeratodermia variabilis.

D. Hohl, D. Schorderet, M. Huber, 2000, American journal of human genetics.

OCT-angiography assessing quiescent and active choroidal neovascularization in retinitis pigmentosa associated with PRPH2 pathogenic variant

D. Schorderet, L. el Matri, A. Chebil, 2021, European journal of ophthalmology.

Differential Dimerization of Variants Linked to Enhanced S‐Cone Sensitivity Syndrome (ESCS) Located in the NR2E3 Ligand‐Binding Domain

N. Guex, D. Alpen, D. Schorderet, 2015, Human mutation.

NR2E3 mutations in enhanced S‐cone sensitivity syndrome (ESCS), Goldmann‐Favre syndrome (GFS), clumped pigmentary retinal degeneration (CPRD), and retinitis pigmentosa (RP)

D. Schorderet, P. Escher, 2009, Human mutation.

[Familial hyperekplexia: startle disease. Clinical, electrophysiological and genetic study of a family].

A. Bernasconi, D. Schorderet, G. Pescia, 1996, Revue neurologique.

Use of denaturing HPLC and automated sequencing to screen the VMD2 gene for mutations associated with Best's vitelliform macular dystrophy

H. Dollfus, D. Schorderet, F. Munier, 2002, Ophthalmic genetics.

Allelic Variation in the VMD 2 Gene in Best Disease and Age-Related Macular Degeneration

V. Sheffield, S. Jacobson, G. Fishman, 2000 .

Clinical and Genetic Findings of Autosomal Recessive Bestrophinopathy (ARB)

D. Schorderet, M. Todorova, V. Vaclavik, 2019, Genes.

A novel homozygous R764H mutation in crumbs homolog 1 causes autosomal recessive retinitis pigmentosa

D. Schorderet, F. Munier, L. Largueche, 2013, Molecular vision.

Identification of HMX1 target genes: A predictive promoter model approach

D. Schorderet, A. Boulling, L. Wicht, 2013, Molecular vision.

Novel mutations in FRMD7 in X‐linked congenital nystagmus

B. Lorenz, D. Schorderet, E. Traboulsi, 2007, Human mutation.

Piperlongumine promotes death of retinoblastoma cancer cells

D. Schorderet, N. Allaman-Pillet, 2021, Oncotarget.

Complement Factor B Polymorphism and the Phenotype of Early Age-related Macular Degeneration

I. Mantel, D. Schorderet, F. Munier, 2014, Ophthalmic genetics.

Mechanisms of apoptosis in retinitis pigmentosa.

D. Schorderet, S. Cottet, 2009, Current molecular medicine.

5′AMP-activated protein kinase α deficiency enhances stress-induced apoptosis in BHK and PC12 cells

R. Sherwin, D. Schorderet, R. McCrimmon, 2007, Journal of cellular and molecular medicine.

Modern cataract surgery for radiation-induced cataracts in retinoblastoma

A. Pica, R. Moeckli, D. Schorderet, 2010, British Journal of Ophthalmology.

Germline mutations in retinoma patients: Relevance to low-penetrance and low-expressivity molecular basis

D. Schorderet, F. Munier, H. Abouzeid, 2009, Molecular vision.

Notch signaling in the pigmented epithelium of the anterior eye segment promotes ciliary body development at the expense of iris formation

C. Kostic, Y. Arsenijévic, D. Schorderet, 2014, Pigment cell & melanoma research.

Reduced metabolic function and structural alterations in inherited retinal dystrophies: investigating the effect of peripapillary vessel oxygen saturation and vascular diameter on the retinal nerve fibre layer thickness

A. Schötzau, D. Schorderet, M. Todorova, 2017, Acta ophthalmologica.

Chiasmatic Infiltration Secondary to Late Malignant Transformation of Retinoma

R. Stupp, R. Janzer, A. Pica, 2012, Ophthalmic genetics.

[Epidemiology of lip-maxilla-palate clefts in the canton of Vaud].

D. Schorderet, M. Addor, J. Hohlfeld, 2003, Revue medicale de la Suisse romande.

Genotype–phenotype correlation of age-related macular degeneration: influence of complement factor H polymorphism

I. Mantel, D. Schorderet, F. Munier, 2008, British Journal of Ophthalmology.

Cloning and Characterization of Helicobacter pyloriSuccinyl CoA:Acetoacetate CoA-transferase, a Novel Prokaryotic Member of the CoA-transferase Family*

A. Blum, D. Schorderet, G. Bergonzelli, 1997, The Journal of Biological Chemistry.

Incomplete Recovery of Zebrafish Retina Following Cryoinjury

D. Schorderet, Dylan Lawless, Gaëtan Pinton, 2022, Cells.

The PROM1 mutation p.R373C causes an autosomal dominant bull's eye maculopathy associated with rod, rod-cone, and macular dystrophy.

D. Hunt, G. Holder, E. White, 2010, Investigative ophthalmology & visual science.

Circadian regulation of islet genes involved in insulin production and secretion

J. Beckmann, D. Schorderet, C. Bonny, 2004, Molecular and Cellular Endocrinology.

Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography

D. Schorderet, L. el Matri, K. El Matri, 2021, Genes.

Association Down Syndrome-Retinoblatoma: A New Observation

J. Beckmann, D. Schorderet, F. Munier, 2005, Ophthalmic Genetics.

Potential blindness in children of patients with hereditary bone disease

D. Schorderet, F. Munier, B. Aubry-Rozier, 2016, Osteoporosis International.

Distal trisomy 14 (q24 --> qter) and aorto-pulmonary window: a case report and review of the literature.

D. Schorderet, N. Sekarski, M. Addor, 2002, Annales de genetique.

Characterisation of the retinal phenotype using multimodal imaging in novel compound heterozygote variants of CYP2U1

A. Bird, D. Schorderet, M. Guipponi, 2023, medRxiv.

Erratum to: Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition) (Autophagy, 12, 1, 1-222, 10.1080/15548627.2015.1100356

Sara W. Bird, Erinna F. Lee, Michael D. Kim, 2016 .

Cone-Rod Dystrophy Caused by a Novel Homozygous RPE65 Mutation in Leber Congenital Amaurosis

D. Schorderet, F. Munier, H. Abouzeid, 2014, Klin Monatsbl Augenheilkd.

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

W. Berger, S. Bhattacharya, A. Moore, 2010, Investigative ophthalmology & visual science.

Alterations of the 5 ’ untranslated leader region of SLC 16 A 12 lead to age-related cataract

W. Berger, S. Bhattacharya, A. Moore, 2010 .

BIRO1, a Cell-Permeable BH3 Peptide, Promotes Mitochondrial Fragmentation and Death of Retinoblastoma Cells

D. Schorderet, A. Oberson, N. Allaman-Pillet, 2014, Molecular Cancer Research.

Novel TULP1 mutation causing leber congenital amaurosis or early onset retinal degeneration.

D. Schorderet, F. Munier, F. Borruat, 2007, Investigative ophthalmology & visual science.

Identifying mutations in Tunisian families with retinal dystrophy.

D. Schorderet, L. el Matri, N. Allaman-Pillet, 2016 .

PATTERN DYSTROPHY WITH HIGH INTRAFAMILIAL VARIABILITY ASSOCIATED WITH Y141C MUTATION IN THE PERIPHERIN/RDS GENE AND SUCCESSFUL TREATMENT OF SUBFOVEAL CNV RELATED TO MULTIFOCAL PATTERN TYPE WITH ANTI-VEGF (RANIBIZUMAB) INTRAVITREAL INJECTIONS

D. Schorderet, F. Munier, V. Vaclavik, 2012, Retina.

Novel PDE6B Mutation Presenting with Retinitis Pigmentosa – A Case Series of Three Patients

K. Stingl, D. Schorderet, A. Palmowski-Wolfe, 2019, Klinische Monatsblätter für Augenheilkunde.

Novel PDE 6 B Mutation Presenting with Retinitis Pigmentosa – A Case Series of Three Patients Neue PDE 6 B-Mutation bei Retinitis pigmentosa – 3 Fallberichte

K. Stingl, D. Schorderet, A. Palmowski-Wolfe, 2019 .

Non-neural regions of the adult human eye: a potential source of neurons?

C. Kostic, Y. Arsenijévic, D. Schorderet, 2003, Investigative ophthalmology & visual science.

Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants

H. Dollfus, D. Schorderet, M. Todorova, 2022, International journal of molecular sciences.

Exploration of the Visual System: Part 1: Dissection of the Mouse Eye for RNA, Protein, and Histological Analyses

D. Schorderet, P. Escher, 2011, Current protocols in mouse biology.

A corneal dystrophy associated with transforming growth factor beta-induced Gly623Asp mutation an amyloidogenic phenotype.

D. Schorderet, H. Agostini, T. Reinhard, 2009, Ophthalmology.

Differential neuroglycan C expression during retinal degeneration in Rpe65−/− mice

D. Schorderet, A. Oohira, S. Cottet, 2008, Molecular vision.

ERK1/2 pathway is activated in degenerated Rpe65-deficient mice.

D. Schorderet, S. Cottet, R. Roduit, 2013, Experimental eye research.

Biological characterization of gene response in Rpe65‐/‐ mouse model of Leber's congenital amaurosis during progression of the disease

U. Schlecht, W. Gehring, D. Schorderet, 2006, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

An additional family with Startle disease and a G1192A mutation at the alpha 1 subunit of the inhibitory glycine receptor gene.

A. Bernasconi, D. Schorderet, G. Pescia, 1994, Human molecular genetics.

Diagnosing human malformation patterns with a microcomputer: evaluation of two different algorithms.

D F Schorderet, D. Schorderet, 1987, American journal of medical genetics.

The human TAX1 gene encoding the axon-associated cell adhesion molecule TAG-1/axonin-1: genomic structure and basic promoter.

P. Sonderegger, D. Schorderet, R. Giger, 1995, Genomics.

Altered expression of the transcription factor Mef2c during retinal degeneration in Rpe65-/- mice.

D. Schorderet, S. Cottet, P. Escher, 2011, Investigative ophthalmology & visual science.

MYOC mutation frequency in primary open-angle glaucoma patients from Western Switzerland

D. Schorderet, E. Héon, P. Cousin, 2001, Ophthalmic genetics.

Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease)

M. Fromer, D. Schorderet, P. Jeannet, 2005, Neuromuscular Disorders.

Partial trisomy 20q in a newborn with dextrocardia.

D. Schorderet, M. Addor, C. Castagné, 2002, Genetic counseling.

Retinal pigment epithelium protein of 65 kDA gene-linked retinal degeneration is not modulated by chicken acidic leucine-rich epidermal growth factor-like domain containing brain protein/Neuroglycan C/ chondroitin sulfate proteoglycan 5

P. Chambon, D. Schorderet, F. Rathjen, 2013, Molecular vision.

Haplotype analysis of Japanese families with a superficial variant of granular corneal dystrophy: evidence for multiple origins of R124L mutation of kerato-epithelin

D. Schorderet, F. Munier, E. Korvatska, 2000 .

Mutations in the DNA-Binding Domain of NR2E3 Affect In Vivo Dimerization and Interaction with CRX

D. Schorderet, P. Escher, R. Roduit, 2009, PloS one.

Exome sequencing confirms ZNF408 mutations as a cause of familial retinitis pigmentosa

D. Schorderet, L. el Matri, A. Chebil, 2017, Ophthalmic genetics.

Rhodopsin C110Y mutation causes a type 2 autosomal dominant retinitis pigmentosa.

E. Stone, D. Schorderet, E. Héon, 1998, Ophthalmic genetics.

Using OMIM (On-line Mendelian Inheritance in Man) as an expert system in medical genetics.

D F Schorderet, D. Schorderet, 1991, American journal of medical genetics.

Mutations of keratinocyte transglutaminase in lamellar ichthyosis

M. Ponec, D. Hohl, D. Schorderet, 1995, Science.

Molecular and clinical characteristics in 32 families affected with familial adenomatous polyposis

P. Chappuis, P. Hutter, D. Schorderet, 2001, Human mutation.

Erratum: Deposits of Transforming Growth Factor-[β]-Induced Protein in Granular Corneal Dystrophy Type II After LASIK (Cornea (2008) 27 (28-32))

S. J. Kang, Terry Kim, H. Grossniklaus, 2013 .

Molecular Analysis of NOTCH2 in Patients with Primary Open-Angle Glaucoma

D. Schorderet, F. Munier, C. Jakobsson, 2015, Klinische Monatsblätter für Augenheilkunde.

"C" trigonocephaly syndrome with diaphragmnatic hernia.

D. Lacombe, D. Schorderet, M. Addor, 1995, Genetic counseling.

Swiss Family with Dominant Stargardt Disease Caused by a Recurrent Mutation in the ELOVL4 Gene

D. Schorderet, F. Munier, V. Vaclavik, 2016, Klin Monatsbl Augenheilkd.

Abrogation of HMX1 function causes rare oculoauricular syndrome associated with congenital cataract, anterior segment dysgenesis, and retinal dystrophy.

J. Clayton-Smith, S. Lovell, D. Schorderet, 2015, Investigative ophthalmology & visual science.

Retinal Dystrophy In The Oculo-auricular Syndrome Due to HMX1 Mutation

D. Schorderet, F. Munier, V. Vaclavik, 2011, Ophthalmic genetics.

A Dimerized HMX1 Inhibits EPHA6/epha4b in Mouse and Zebrafish Retinas

D. Schorderet, G. Boisset, Fabienne Marcelli, 2014, PLoS ONE.

Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice.

W. Huttner, D. Hunt, C. Lillo, 2008, The Journal of clinical investigation.

Exploration of the Visual System: Part 2: In Vivo Analysis Methods: Virtual‐Reality Optomotor System, Fundus Examination, and Fluorescent Angiography

D. Schorderet, P. Escher, Fabienne Marcelli, 2012, Current protocols in mouse biology.

Identification of novel PAX6 mutations in two families with bilateral aniridia

D. Schorderet, F. Munier, J. Dufier, 1998, Human mutation.

Guidelines for the use and interpretation of assays for monitoring autophagy

Robert Clarke, Hong Jiang, Hiroyuki Ishida, 2012 .

[Mutational screening of peripherin/RDS genes, rhodopsin and ROM-1 in 69 index cases with retinitis pigmentosa and other retinal dystrophies].

E. Stone, D. Schorderet, E. Héon, 1998, Klinische Monatsblatter fur Augenheilkunde.

Risk assessment of recurrence in sporadic retinoblastoma using a molecular-based algorithm

D. Schorderet, F. Munier, M. Gaillard, 2012, Ophthalmic genetics.

Altered expression of β-galactosidase-1-like protein 3 (Glb1l3) in the retinal pigment epithelium (RPE)-specific 65-kDa protein knock-out mouse model of Leber’s congenital amaurosis

D. Schorderet, J. Le Carré, S. Cottet, 2011, Molecular vision.

Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family

P. Gouras, N. Mermod, R. Allikmets, 2009, Human mutation.

New COL6A6 Variant Causes Autosomal Dominant Retinitis Pigmentosa in a Four-Generation Family

V. Mahajan, D. Schorderet, F. Munier, 2022, Investigative ophthalmology & visual science.