V. Pelletier

发表

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

K. Kawakami, D. Lipsker, E. Krüger, 2020, EMBO molecular medicine.

Atypical Retinal Phenotype in a Patient With Alström Syndrome and Biallelic Novel Pathogenic Variants in ALMS1, Including a de novo Variation

H. Dollfus, C. Stoetzel, J. Muller, 2020, Frontiers in Genetics.

Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy

M. Mirande, S. Kremer, H. Dollfus, 2019, Human mutation.

New Information on the Basal Pelycosaurian-Grade Synapsid Oedaleops

S. Sumida, V. Pelletier, D. S. Berman, 2014 .

A novel nonsense B3GALTL mutation confirms Peters plus syndrome in a patient with multiple malformations and Peters anomaly

M. Weiss, H. Dollfus, C. Tops, 2010, Ophthalmic genetics.

First European Record of a Varanodontine (Synapsida: Varanopidae): Member of a Unique Early Permian Upland Paleoecosystem, Tambach Basin, Central Germany

T. Martens, S. Sumida, V. Pelletier, 2014 .

Microdeletion at chromosome 4q21 defines a new emerging syndrome with marked growth restriction, mental retardation and absent or severely delayed speech

L. Faivre, H. Dollfus, P. Jonveaux, 2010, Journal of Medical Genetics.

Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects.

A. Bloch-Zupan, O. Poch, H. Dollfus, 2011, American journal of human genetics.

A novel TFAP2A mutation in familial Branchio-Oculo-Facial Syndrome with predominant ocular phenotype

H. Dollfus, B. Leheup, C. Stoetzel, 2011, Ophthalmic genetics.

Confirmation of TFAP2A gene involvement in branchio‐oculo‐facial syndrome (BOFS) and report of temporal bone anomalies

H. Dollfus, J. Danse, F. Veillon, 2009, American journal of medical genetics. Part A.

Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral Ectopia Lentis

H. Dollfus, C. Boileau, J. Dufier, 2010, Ophthalmic 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.

Contribution of whole genome sequencing in the molecular diagnosis of mosaic partial deletion of the NF1 gene in neurofibromatosis type 1

E. Pasmant, M. Vidaud, I. Laurendeau, 2022, Human Genetics.

MSX2 Gene Duplication in a Patient with Eye Development Defects

A. Bloch-Zupan, H. Dollfus, M. Fradin, 2015, Ophthalmic genetics.

Sequencing Analysis of the ATOH7 Gene in Individuals with Optic Nerve Hypoplasia

James T. Elder, G. Gole, D. Mackey, 2014, Ophthalmic genetics.

Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.

M. Manière, H. Dollfus, J. Clavert, 2015, European journal of medical genetics.

Postcranial Description and Reconstruction of the Varanodontine Varanopid Aerosaurus wellesi (Synapsida: Eupelycosauria)

V. Pelletier, 2014 .

Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)

Olivier Poch, Véronique Geoffroy, Corinne Stoetzel, 2013, Journal of Medical Genetics.

The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

B. Lorenz, D. Fischer, F. Parmeggiani, 2021, Orphanet Journal of Rare Diseases.

Albinism in a patient with mutations at both the OA1 and OCA3 loci

D. Lipsker, C. Rooryck, D. Lacombe, 2016, Pigment cell & melanoma research.

Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress

K. Kawakami, D. Lipsker, E. Krüger, 2019, bioRxiv.

Predominantly Cone-System Dysfunction as Rare Form of Retinal Degeneration in Patients With Molecularly Confirmed Bardet-Biedl Syndrome.

G. Holder, A. Webster, A. Moore, 2015, American journal of ophthalmology.

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype–phenotype correlations and impact on genetic counseling

A. Munnich, A. Toutain, H. Dollfus, 2007, Human mutation.

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.

Mesoaxial polydactyly is a major feature in Bardet–Biedl syndrome patients with LZTFL1 (BBS17) mutations

C. Redin, C. Mathis, C. Obringer, 2014, Clinical genetics.

Novel TTLL5 Variants Associated with Cone-Rod Dystrophy and Early-Onset Severe Retinal Dystrophy

J. Sahel, H. Dollfus, I. Audo, 2021, International journal of molecular sciences.

A Novel Mutation Involving the Initiation Codon of FGF3 in a Family Described with Complete Inner Ear Agenesis, Microtia and Major Microdontia (LAMM Syndrome)

M. Schmittbuhl, F. Clauss, M. Manière, 2014 .

Mesoaxial polydactyly is a major feature in Bardet–Biedl syndrome patients with LZTFL1 (BBS17) mutations

C. Redin, C. Mathis, C. Obringer, 2014, Clinical Genetics.

Spectrum of SPATA7 mutations in Leber congenital amaurosis and delineation of the associated phenotype

A. Munnich, D. Zafeiriou, S. Hanein, 2010, Human mutation.

Confirmation of ADAMTSL4 mutations for autosomal recessive isolated bilateral Ectopia Lentis

H. Dollfus, C. Boileau, J. Dufier, 2010, Ophthalmic Genetics.