H. Dollfus

发表

E. Pasmant, M. Vidaud, I. Laurendeau, 2019, Genes.

Insights into Ciliary Genes and Evolution from Multi-Level Phylogenetic Profiling

J. Thompson, Alexis Allot, M. Prasad, 2017, Molecular biology and evolution.

A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene

S. Bolz, B. Jurklies, J. Heckenlively, 2009, Proceedings of the National Academy of Sciences.

Decreased catalytic activity and altered activation properties of PDE6C mutants associated with autosomal recessive achromatopsia.

E. Zrenner, T. Rosenberg, B. Jurklies, 2011, Human molecular genetics.

Fourteen novel OPA1 mutations in autosomal dominant optic atrophy including two de novo mutations in sporadic optic atrophy

B. Lorenz, D. Bonneau, P. Amati‐Bonneau, 2003, Human mutation.

Hereditary optic neuropathies share a common mitochondrial coupling defect

D. Milea, D. Bonneau, P. Amati‐Bonneau, 2008, Annals of neurology.

Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.

Olivier Poch, Xavier Zanlonghi, Odile Lecompte, 2013, American journal of human genetics.

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia

P. Calvas, N. Chassaing, M. Holder-Espinasse, 2013, American journal of medical genetics. Part A.

Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

M. Cossée, J. Mandel, A. Verloes, 2005, European Journal of Human Genetics.

Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström Syndromes

Véronique Geoffroy, Claire Redin, Corinne Stoetzel, 2012, Journal of Medical Genetics.

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Véronique Geoffroy, Claire Redin, Jean Muller, 2014, Journal of Medical Genetics.

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

A. Munnich, M. Gonzalès, M. Gubler, 2005, American journal of human genetics.

Retinal layer segmentation in multiple sclerosis: a systematic review and meta-analysis

Alexander Klistorner, Bernhard Hemmer, Pablo Villoslada, 2017, The Lancet Neurology.

Methods of Subject Ascertainment and Mutation Detection Study Subjects

Neil A. Miller, J. Naggert, N. Miller, 2015 .

Alström Syndrome: Mutation Spectrum of ALMS1

Neil A. Miller, S. Kingsmore, J. Naggert, 2015, Human mutation.

Eight previously unidentified mutations found in the OA1 ocular albinism gene

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

Adapted Surgical Procedure for Argus II Retinal Implantation: Feasibility, Safety, Efficiency, and Postoperative Anatomic Findings.

José-Alain Sahel, Soufiane Ajana, Hélène Dollfus, 2017, Ophthalmology. Retina.

Whole mitochondrial genome screening in maternally inherited non-syndromic hearing impairment using a microarray resequencing mitochondrial DNA chip

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2007, European Journal of Human Genetics.

Pharmacological Modulation of the Retinal Unfolded Protein Response in Bardet-Biedl Syndrome Reduces Apoptosis and Preserves Light Detection Ability*

M. Seeliger, H. Dollfus, W. Lamers, 2012, The Journal of Biological Chemistry.

Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome

J. Tolmie, E. Tobias, B. Gener, 2010, Human mutation.

High prevalence of PRPH2 in autosomal dominant retinitis pigmentosa in france and characterization of biochemical and clinical features.

J. Sahel, C. Béroud, M. Picot, 2015, American journal of ophthalmology.

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.

A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome

M. Manière, A. Bloch-Zupan, H. Dollfus, 2014, Molecular Syndromology.

Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia

A. Rousseau, S. Amselem, H. Dollfus, 2012, Journal of Medical Genetics.

A possible cranio-oro-facial phenotype in

M. Schmittbuhl, A. Bloch-Zupan, H. Dollfus, 2013 .

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.

Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish

K. Chennen, O. Poch, H. Dollfus, 2020, Human mutation.

Identification and Characterization of Known Biallelic Mutations in the IFT27 (BBS19) Gene in a Novel Family With Bardet-Biedl Syndrome

M. Holder-Espinasse, H. Dollfus, C. Stoetzel, 2019, Front. Genet..

Whole‐genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140

H. Blanché, S. Saunier, A. Boland, 2018, Human mutation.

Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta

Ian M. Carr, Jennifer Kirkham, Michel Michaelides, 2009, American journal of human genetics.

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement

A. Toutain, M. Prasad, D. Droz, 2015, Journal of Medical Genetics.

A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum.

H. Dollfus, N. Calmels, D. Astruc, 2020, European journal of medical genetics.

Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy

S. Levy, C. Dang, R. Lewis, 2010, Nature Genetics.

SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2006, European Journal of Human Genetics.

Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome

N. Drouot, H. Dollfus, J. Chelly, 2018, European Journal of Human Genetics.

Implication of non-coding PAX6 mutations in aniridia

P. Calvas, N. Chassaing, H. Dollfus, 2018, Human Genetics.

Should we systematically screen for peripheral arterial aneurysms in all patients with Marfan syndrome?

H. Dollfus, N. Chakfé, Y. Alembik, 2014, International journal of cardiology.

Ef fi cient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

Salima El-Chehadeh, J. Mandel, S. Gras, 2014 .

Identification of a novel BBS gene (BBS12) highlights the major role of a vertebrate-specific branch of chaperonin-related proteins in Bardet-Biedl syndrome.

F. Plewniak, T. de Ravel, R. Lewis, 2007, American journal of human genetics.

Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing

G. Gyapay, J. Mandel, S. Duchatelet, 2012, Ophthalmic genetics.

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.

J. Mandel, A. Verloes, D. Bonneau, 2011, European journal of medical genetics.

Bardet-Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption.

H. Dollfus, B. Moulin, C. Stoetzel, 2011, Kidney international.

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

R. Lewis, N. Katsanis, E. Chouery, 2006, Nature Genetics.

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.

GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2005, Archives of otolaryngology--head & neck surgery.

Epistatic interactions with a common hypomorphic RET allele in syndromic Hirschsprung disease

A. Munnich, S. Antonarakis, N. Katsanis, 2007, Human mutation.

Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

R. Lewis, N. Katsanis, E. Chouery, 2006, Nature Genetics.

Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype

A. Munnich, S. Hanein, H. Dollfus, 2007, Human mutation.

Comprehensive variant spectrum of the CNGA3 gene in patients affected by achromatopsia

P. Sieving, S. Jacobson, R. Salati, 2022, Human mutation.

Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy

A. Munnich, S. Hanein, P. Calvas, 2012, Nature Genetics.

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.

A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi

K. Chennen, H. Dollfus, Johana Chicher, 2016, Nature Communications.

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.

Relative Adipose Tissue Failure in Alström Syndrome Drives Obesity-Induced Insulin Resistance

K. Clément, N. Petrovsky, H. Dollfus, 2020, Diabetes.

Autosomal dominant pattern dystrophy of the retina associated with a 4-base pair insertion at codon 140 in the peripherin/RDS gene.

A. Bird, F. Fitzke, H. Dollfus, 1995, Archives of ophthalmology.

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.

A. Munnich, A. Mégarbané, L. Faivre, 2004, American journal of human genetics.

Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet–Biedl syndrome

J. Mandel, D. Lacombe, C. Redin, 2016, Journal of Human Genetics.

Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients

A. Green, I. Kaitila, R. Hennekam, 2010, European Journal of Human Genetics.

Expanded mutational spectrum in Cohen syndrome, tissue expression, and transcript variants of COH1

D. Horn, K. Dahan, M. Holder-Espinasse, 2009, Human mutation.

Diamond-Blackfan Anemia Phenotype Caused By Deficiency of Adenosine Deaminase 2

K. Schwarz, D. Steinemann, S. Ehl, 2017 .

Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning

A. Boland, J. Deleuze, K. Chennen, 2018, Front. Physiol..

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

A. Destée, S. Klebe, A. Durr, 2012, Brain : a journal of neurology.

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.

Bilateral iridoretinal colobomas in a child with a Noonan phenotype.

H. Dollfus, F. Rouault, J. Flament, 2001, Clinical dysmorphology.

Evidence of genetic heterogeneity of Leber's congenital amaurosis (LCA) and mapping of LCA1 to chromosome 17p13

J. Weissenbach, A. Munnich, H. Dollfus, 1996, Human Genetics.

Ocular manifestations in the inherited DNA repair disorders.

J. Sahel, A. Sarasin, H. Dollfus, 2003, Survey of ophthalmology.

Deletion of 5′ sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome

H. Dollfus, I. Desguerre, J. Egly, 2008, European Journal of Human Genetics.

Dermatologic findings in 16 patients with Cockayne syndrome and cerebro-oculo-facial-skeletal syndrome.

D. Lipsker, H. Dollfus, V. Laugel, 2013, JAMA dermatology.

Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta

G. Mortier, P. Dollé, D. Rifkin, 2015, Human molecular genetics.

brachyolmia with amelogenesis imperfecta

G. Mortier, P. Dollé, D. Rifkin, 2015 .

De novo intrachromosomal gene conversion from OPN1MW to OPN1LW in the male germline results in Blue Cone Monochromacy

T. Rosenberg, J. Heckenlively, D. Birch, 2016, Scientific Reports.

FOXE3 mutations: genotype‐phenotype correlations

P. Calvas, N. Chassaing, H. Dollfus, 2018, Clinical genetics.

Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature

R. Pfundt, C. Creuzot-Garcher, P. Calvas, 2016, European Journal of Human Genetics.

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

S. Julia, R. Touraine, A. Toutain, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

Phenotype in X chromosome rearrangements: pitfalls of X inactivation study.

M. Cossée, H. Dollfus, E. Flori, 2007, Pathologie-biologie.

Hydroxychloroquine hitting the headlines—retinal considerations

S. Sivaprasad, H. Dollfus, S. Downes, 2020, Eye.

9 Eye involvement in children's rheumatic diseases

H. Dollfus, 1998 .

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.

Le point sur le syndrome de Bardet-Biedl

M. Cossée, J. Mandel, A. Verloes, 2008 .

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.

Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet–Biedl syndrome with situs inversus and insertional polydactyly

E. Souied, A. Verloes, H. Dollfus, 2012, Journal of Medical Genetics.

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

Albert David, Jean Weissenbach, José-Alain Sahel, 2011, Orphanet journal of rare diseases.

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features

D. Lipsker, J. Mandel, A. Weingertner, 2016, Prenatal diagnosis.

Cerebro-oculo-facio-skeletal syndrome: three additional cases with CSB mutations, new diagnostic criteria and an approach to investigation

J. Tolmie, E. Tobias, V. Drouin‐Garraud, 2008, Journal of Medical Genetics.

The landscape of submicroscopic structural variants at the OPN1LW/OPN1MW gene cluster on Xq28 underlying blue cone monochromacy

A. Cideciyan, S. Jacobson, B. Lorenz, 2022, Proceedings of the National Academy of Sciences of the United States of America.

Cystoid maculopathy is a frequent feature of Cohen syndrome-associated retinopathy

J. Sahel, C. Creuzot-Garcher, G. Mancini, 2021, Scientific Reports.

Identification of a new TWIST mutation (7p21) with variable eyelid manifestations supports locus homogeneity of BPES at 3q22

H. Dollfus, C. Stoetzel, F. Perrin-Schmitt, 2001, Journal of medical genetics.

Late onset stroke and myocardial infarction in Williams syndrome

A. Toutain, H. Dollfus, C. Tranchant, 2006, European journal of neurology.

Dental and extra‐oral clinical features in 41 patients with WNT10A gene mutations: A multicentric genotype–phenotype study

N. Philip, N. Chassaing, F. Clauss, 2017, Clinical genetics.

The Molecular Architectur e of Native BBSome Obtained by an Integrated Structural Approach Graphical

A. Nager, U. Stelzl, T. Walz, 2019 .

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

P. Calvas, D. Bonneau, P. Amati‐Bonneau, 2004, Journal of Medical Genetics.

Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet–Biedl syndrome underline complex CNS impact of primary cilia

J. Dietemann, A. Verloes, S. Kremer, 2011, Clinical genetics.

Comparing the Bbs10 complete knockout phenotype with a specific renal epithelial knockout one highlights the link between renal defects and systemic inactivation in mice

H. Dollfus, M. Scerbo, C. Obringer, 2015, Cilia.

Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.

R. Pfundt, S. Szelinger, V. Narayanan, 2019, American journal of human genetics.

Novel FH mutations in families with hereditary leiomyomatosis and renal cell cancer (HLRCC) and patients with isolated type 2 papillary renal cell carcinoma

L. Thomas, S. Richard, B. Teh, 2011, Journal of Medical Genetics.

Characterization of SSBP1-related optic atrophy and foveopathy

M. Picot, Majida Charif, G. Lenaers, 2021, Scientific Reports.

A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet‐Biedl syndrome

R. Redon, E. Génin, K. Devriendt, 2020, Clinical genetics.

A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta

M. Manière, A. Bloch-Zupan, H. Dollfus, 2019, Front. Genet..

Saethre-Chotzen syndrome: notable intrafamilial phenotypic variability in a large family with Q28X TWIST mutation.

H. Dollfus, D. Rénier, J. Biswas, 2002, American journal of medical genetics.

Natural Twist protein variants in a panel of eleven non-human primates: possible implications of twist gene-tree for primate species-tree

H. Dollfus, C. Stoetzel, F. Perrin-Schmitt, 2002, Development Genes and Evolution.

Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect

L. Vallée, B. Echenne, M. Cossée, 2006, European Journal of Human Genetics.

Extensive brain calcification in two children with bilateral Coats' disease.

H. Dollfus, J. Dufier, F. Goutières, 1999, Neuropediatrics.

Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1‐related disorders

H. Dollfus, A. Chaussenot, M. Nicolino, 2015, Clinical genetics.

Mutation spectrum in BBS genes guided by homozygosity mapping in an Indian cohort

V. Umashankar, M. Kabra, H. Dollfus, 2015, Clinical genetics.

Periodontal (formerly type VIII) Ehlers–Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype

D. Lipsker, X. Jeunemaître, M. Manière, 2021, Clinical genetics.

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

A. Toutain, P. Calvas, N. Chassaing, 2014, Clinical genetics.

The Molecular Architecture of Native BBSome Obtained by an Integrated Structural Approach.

Jean Muller, Ulrich Stelzl, Frank DiMaio, 2019, Structure.

Osteosclerotic bone dysplasia in siblings with a Fam20C mutation

Corinne Stoetzel, Jean Muller, Meriam Koob, 2011, Clinical genetics.

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

Jean Muller, O. Poch, N. Katsanis, 2010, Human Genetics.

Clinical and genetic characterization of Bardet–Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis

C. Redin, H. Dollfus, C. Stoetzel, 2014, Clinical genetics.

BBS8 is rarely mutated in a cohort of 128 Bardet-Biedl syndrome families

A. Mégarbané, M. Cossée, J. Mandel, 2006, Journal of Human Genetics.

A possible cranio-oro-facial phenotype in Cockayne syndrome

M. Schmittbuhl, A. Bloch-Zupan, H. Dollfus, 2013, Orphanet Journal of Rare Diseases.

Large deletion of the GJB6 gene in deaf patients heterozygous for the GJB2 gene mutation: Genotypic and phenotypic analysis

C. Petit, F. Denoyelle, V. Drouin‐Garraud, 2004, American journal of medical genetics. Part A.

Retinal Degeneration Animal Models in Bardet-Biedl Syndrome and Related Ciliopathies.

H. Dollfus, Clarisse Delvallée, 2023, Cold Spring Harbor perspectives in medicine.

Dysmorphology and the orbital region: a practical clinical approach.

A. Verloes, H. Dollfus, 2004, Survey of ophthalmology.

MSX2 Gene Duplication in a Patient with Eye Development Defects

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

Amelogenesis Imperfecta

A. Bloch-Zupan, H. Dollfus, M. El Alloussi, 2016, Journal of dental research.

Neurotrophic Keratitis Due to Congenital Corneal Anesthesia with Deafness, Hypotonia, Intellectual Disability, Face Abnormality and Metabolic Disorder: A New Syndrome?

H. Dollfus, L. Buzzonetti, R. Zemaitiene, 2022, Medicina.

Olfaction evaluation and correlation with brain atrophy in Bardet‐Biedl syndrome

J. Foucher, V. Noblet, S. Kremer, 2014, Clinical genetics.

Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis.

A. Munnich, S. Hanein, H. Dollfus, 2004, American journal of human genetics.

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia.

Janel O. Johnson, D. Hernandez, A. Singleton, 2011, Archives of neurology.

First evidence of SOX2 mutations in Peters' anomaly: Lessons from molecular screening of 95 patients

L. Bouneau, P. Calvas, N. Chassaing, 2022, Clinical genetics.

Heimler Syndrome.

A. Bloch-Zupan, H. Dollfus, N. Loundon, 2020, Advances in experimental medicine and biology.

Recessive and Dominant De Novo ITPR1 Mutations Cause Gillespie Syndrome.

A. Munnich, A. Durr, C. Orssaud, 2016, American journal of human genetics.

Genetic Analysis of ‘PAX6-Negative’ Individuals with Aniridia or Gillespie Syndrome

J. Clayton-Smith, B. Lorenz, I. Temple, 2016, PloS one.

Targeted resequencing identifies PTCH1 as a major contributor to ocular developmental anomalies and extends the SOX2 regulatory network

N. Katsanis, P. Calvas, N. Chassaing, 2016, Genome research.

Long-term results of trabeculectomy for congenital glaucoma.

H. Dollfus, J. Dufier, P. Dureau, 1998, Journal of pediatric ophthalmology and strabismus.

CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia

P. Sieving, S. Jacobson, R. Salati, 2005, European Journal of Human Genetics.

Mild form of oculocutaneous albinism type 1: phenotypic analysis of compound heterozygous patients with the R402Q variant of the TYR gene

P. Pennamen, J. Korobelnik, D. Bonneau, 2018, British Journal of Ophthalmology.

Syddansk Universitet Genetic Analysis of ' PAX 6-Negative ' Individuals with Aniridia or Gillespie Syndrome

Stephen, Anthony, I.., 2016 .

Mutation analysis of the tyrosinase gene in oculocutaneous albinism

H. Dollfus, E. Héon, J. Sutherland, 2001, Human mutation.

High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients

C. Rooryck, D. Lacombe, H. Dollfus, 2010, Human Genetics.

Further clinical and sensorial delineation of Schinzel-Giedion syndrome: report of two cases.

H. Dollfus, M. Fischbach, F. Veillon, 2002, American journal of medical genetics.

Reproduction Function in Male Patients With Bardet Biedl Syndrome

M. Mark, H. Dollfus, N. Messaddeq, 2020, The Journal of clinical endocrinology and metabolism.

AnnotSV: an integrated tool for structural variations annotation

Véronique Geoffroy, Amélie Piton, Corinne Stoetzel, 2018, Bioinform..

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Corinne Stoetzel, Richard A. Lewis, Colin A. Johnson, 2012, Cell.

Leber congenital amaurosis: Comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype–phenotype correlations as a strategy for molecular diagnosis

A. Munnich, D. Zafeiriou, S. Hanein, 2004, Human mutation.

Screening of SLC26A4, FOXI1 and KCNJ10 genes in unilateral hearing impairment with ipsilateral enlarged vestibular aqueduct.

F. Denoyelle, V. Drouin‐Garraud, B. Gilbert-Dussardier, 2010, International journal of pediatric otorhinolaryngology.

AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis

H. Dollfus, Tor Solli-Nowlan, T. Guignard, 2021, Nucleic Acids Res..

A gene for Stargardt's disease (fundus flavimaculatus) maps to the short arm of chromosome 1

A. Munnich, N. Janin, H. Dollfus, 1993, Nature Genetics.

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Martin S. Taylor, J. Aerts, M. Hurles, 2011, Nature Genetics.

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources

Tudor Groza, Damian Smedley, Peter N. Robinson, 2018, Nucleic Acids Res..

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.

Implication of non-coding PAX6 mutations in aniridia

P. Calvas, N. Chassaing, H. Dollfus, 2018, Human Genetics.

Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation

J. Mandel, H. Dollfus, N. Messaddeq, 2009, Proceedings of the National Academy of Sciences.

NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype

M. Sanson, J. Soulier, I. Bièche, 2010, Human mutation.

Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response

R. Salati, B. Lorenz, E. Zrenner, 2011, Human mutation.

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations

D. Milea, D. Bonneau, P. Amati‐Bonneau, 2009, Human mutation.

Mutation spectrum and splicing variants in the OPA1 gene

B. Lorenz, G. Lenaers, L. Faivre, 2001, Human Genetics.

Novel and recurrent non-truncating mutations of the MITF basic domain: genotypic and phenotypic variations in Waardenburg and Tietz syndromes

V. Drouin‐Garraud, H. Dollfus, C. Baumann, 2012, European Journal of Human Genetics.

domain: genotypic and phenotypic variations in Waardenburg and 2

Annick, V. Drouin‐Garraud, H. Dollfus, 2012 .

Severe Phenotype in Patients with Large Deletions of NF1

S. Julia, E. Pasmant, A. Sabbagh, 2021, Cancers.

Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

E. Haan, S. Mansour, D. Vidaud, 2021, European Journal of Human Genetics.

WDR34, a candidate gene for non‐syndromic rod‐cone dystrophy

T. Léveillard, J. Sahel, S. Bhattacharya, 2020, Clinical genetics.

A gene for Usher syndrome type I (USH1A) maps to chromosome 14q.

D. Bonneau, H. Dollfus, J. Frézal, 1992, Genomics.

CHARGE syndrome: report of 47 cases and review.

J L Michel, A. Munnich, N. Philip, 1998, American journal of medical genetics.

The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.

T. Léveillard, J. Sahel, X. Guillonneau, 2014, Human molecular 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.

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

Colin A. Johnson, Nancy F. Hansen, R. Gibbs, 2011, Nature Genetics.

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Frédéric Tran Mau-Them, Jean-François Deleuze, Elise Schaefer, 2017, American journal of human genetics.

Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis

D. Paslier, A. Munnich, E. Souied, 1996, Nature Genetics.

Insidious craniosynostosis and chronic papilledema in childhood.

H. Dollfus, D. Rénier, J. Dufier, 1996, American journal of ophthalmology.

Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy

M. Zeviani, C. Orssaud, A. Torroni, 2012, PloS one.

[Bardet-Biedl syndrome: cilia and obesity - from genes to integrative approaches].

K. Chennen, O. Poch, H. Dollfus, 2014, Medecine sciences : M/S.

Sleep-Disordered Breathing, Quality of Sleep and Chronotype in a Cohort of Adult Patients with Bardet–Biedl Syndrome

H. Dollfus, H. Comtet, P. Bourgin, 2021, Nature and science of sleep.

High prevalence of Bardet‐Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3

H. Dollfus, M. Jacquemont, J. Alessandri, 2020, Clinical genetics.

Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes

B. Gilbert-Dussardier, K. Chennen, O. Poch, 2019, Clinical genetics.

Evidence for secondary-variant genetic burden and non-random distribution across biological modules in a recessive ciliopathy

Manolis Kellis, Irwin Jungreis, S. Sunyaev, 2018, bioRxiv.

Neural Tube Defects: The Experience of the Registry of Congenital Malformations of Alsace, France, 1995-2009

R. Favre, P. Kehrli, H. Dollfus, 2014, Fetal Diagnosis and Therapy.

Long-Term Follow-Up and Molecular Characterization of a Patient with a RECQL4 Mutation Spectrum Disorder

D. Lipsker, H. Dollfus, B. Aral, 2013, Dermatology.

Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

R. Lewis, N. Katsanis, J. Badano, 2008, Nature Genetics.

Clinical homogeneity and genetic heterogeneity in Weill–Marchesani syndrome

A. Munnich, A. Mégarbané, R. Gorlin, 2003, American journal of medical genetics. Part A.

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.

OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment

A. Munnich, N. Boddaert, R. Touraine, 2013, Clinical 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.

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

J. Laplanche, S. Julia, A. Toutain, 2015, Genetics in Medicine.

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

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

Mutations in IMPG1 cause vitelliform macular dystrophies.

Xavier Zanlonghi, Joe G Hollyfield, Gilles Labesse, 2013, American journal of human genetics.

Recurrent insertional polydactyly and situs inversus in a Bardet‐Biedl syndrome family

E. Souied, A. Verloes, H. Dollfus, 2007, American journal of medical genetics. Part A.

Expanding phenotype of hereditary fibrosing poikiloderma with tendon contractures, myopathy, and pulmonary fibrosis caused by FAM111B mutations: Report of an additional family raising the question of cancer predisposition and a short review of early-onset poikiloderma

D. Lipsker, H. Dollfus, C. Lenormand, 2017, JAAD case reports.

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

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

Non‐USH2A mutations in USH2 patients

P. Calvas, M. Claustres, S. Malcolm, 2012, Human mutation.

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.

Bardet-biedl syndrome: New insights into ciliopathies and oligogenic traits

P. Beales, H. Dollfus, Elias Nicholas Katsanis, 2007 .

Pitfalls of homozygosity mapping: an extended consanguineous Bardet–Biedl syndrome family with two mutant genes (BBS2, BBS10), three mutations, but no triallelism

E. Chouery, A. Mégarbané, J. Mandel, 2006, European Journal of Human Genetics.

Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates

J. Lupski, S. Fisher, D. Jagger, 2005, Nature Genetics.

Epistasis between RET and BBS mutations modulates enteric innervation and causes syndromic Hirschsprung disease

Seneca L. Bessling, A. McCallion, A. Munnich, 2009, Proceedings of the National Academy of Sciences.

BBS-induced ciliary defect enhances adipogenesis, causing paradoxical higher-insulin sensitivity, glucose usage, and decreased inflammatory response.

N. Petrovsky, H. Dollfus, N. Messaddeq, 2012, Cell metabolism.

Mapping the eye diseases.

H. Dollfus, J. Frézal, J. Kaplan, 1992, Ophthalmic paediatrics and genetics.

Neuropathy target esterase impairments cause Oliver–McFarlane and Laurence–Moon syndromes

M. Dattani, T. Révész, V. Plagnol, 2014, Journal of Medical Genetics.

Basal exon skipping and nonsense-associated altered splicing allows bypassing complete CEP290 loss-of-function in individuals with unusually mild retinal disease

H. Dollfus, Nicolas Goudin, T. Attié-Bitach, 2018, Human molecular genetics.

Immunopathological manifestations in Kabuki syndrome: a registry study of 177 individuals

A. Munnich, S. Julia, A. Toutain, 2019, Genetics in Medicine.

European Reference Networks: challenges and opportunities

J. Blay, H. Dollfus, I. Mathijssen, 2021, Journal of Community Genetics.

Neuroimaging In Cockayne Syndrome

I. Namer, H. Dollfus, V. Laugel, 2010, American Journal of Neuroradiology.

[Epidemiology of age related macular degeneration].

E. Souied, G. Soubrane, G. Coscas, 2009, Journal Francais d'Ophtalmologie.

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1‐mutated males

L. Hertz-Pannier, R. Touraine, F. Giuliano, 2011, Clinical genetics.

Consensus clinical management guidelines for Alström syndrome

M. Gunay‐Aygun, H. Dollfus, R. Steeds, 2020, Orphanet Journal of Rare Diseases.

Mutations in SDCCAG8/NPHP10 Cause Bardet-Biedl Syndrome and Are Associated with Penetrant Renal Disease and Absent Polydactyly

N. Katsanis, A. Toutain, C. Redin, 2011, Molecular Syndromology.

The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol

F. Guillemin, C. Lejeune, A. Boland, 2022, Frontiers in Genetics.

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.

Mutations in PLK4, encoding a master regulator of centriole biogenesis, cause microcephaly, growth failure and retinopathy

Peter Nürnberg, Ingrid Hoffmann, Matthew E Hurles, 2014, Nature Genetics.

Homozygosity mapping of Marinesco–Sjögren syndrome to 5q31

M. Koenig, M. Gribaa, H. Dollfus, 2003, European Journal of Human Genetics.

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.

Relative Frequencies of Inherited Retinal Dystrophies and Optic Neuropathies in Southern France: Assessment of 21-year Data Management

J. Sahel, P. Calvas, M. Claustres, 2013, Ophthalmic epidemiology.

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A

B. Gilbert-Dussardier, Julie Bianchi, M. Claustres, 2021, International journal of molecular sciences.

Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays

A. Munnich, P. Rustin, L. Pasquier, 2005, Archives of Disease in Childhood.

Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.

S. Richard, P. Massin, C. Béroud, 2002, Investigative ophthalmology & visual science.

Quality of life improvements following one year of setmelanotide in children and adult patients with Bardet–Biedl syndrome: phase 3 trial results

A. Gnanasakthy, P. Beales, H. Dollfus, 2023, Orphanet Journal of Rare Diseases.

Efficacy and safety of setmelanotide, a melanocortin-4 receptor agonist, in patients with Bardet-Biedl syndrome and Alström syndrome: a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial with an open-label period.

K. Clément, H. Dollfus, J. Argente, 2022, The lancet. Diabetes & endocrinology.

Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar

M. Manière, A. Bloch-Zupan, H. Dollfus, 2016, Front. Physiol..

Myopathy with tubular aggregates and gyrate atrophy of the choroid and retina due to hyperornithinaemia

H. Dollfus, J. Warter, O. Caron, 2006, Journal of Neurology, Neurosurgery & Psychiatry.

Value of MRI olfactory bulb evaluation in the assessment of olfactory dysfunction in Bardet–Biedl syndrome

V. Noblet, S. Kremer, H. Dollfus, 2016, Clinical genetics.

Eye involvement in children's rheumatic diseases.

H. Dollfus, 1998, Bailliere's clinical rheumatology.

Improved performance and safety from Argus II retinal prosthesis post‐approval study in France

J. Sahel, J. Dorn, J. Korobelnik, 2020, Acta ophthalmologica.

Protocol GenoDENT: Implementation of a New NGS Panel for Molecular Diagnosis of Genetic Disorders with Orodental Involvement.

Marzena Kawczynski, M. Manière, A. Bloch-Zupan, 2019, Methods in molecular biology.

Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.

Véronique Geoffroy, Corinne Stoetzel, Uwe Strähle, 2015, American journal of human genetics.

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation

J. Gécz, C. Schwartz, N. Tommerup, 2005, Human Genetics.

Magnetically Assisted Drug Delivery of Topical Eye Drops Maintains Retinal Function In Vivo in Mice

A. Urtti, H. Dollfus, O. Zelphati, 2021, Pharmaceutics.

Congenital toxoplasma chorioretinitis transmitted by preconceptionally immune women

H. Dollfus, C. Hennequin, J. Dufier, 1998, The British journal of ophthalmology.

Linkage to 18qter differentiates two clinically overlapping syndromes: congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome and Marinesco-Sjögren syndrome

M. Koenig, H. Dollfus, C. Lagier-Tourenne, 2002, Journal of medical genetics.

ODP606 Long-term Efficacy of Setmelanotide in Patients With Bardet-Biedl Syndrome

K. Clément, P. Beales, H. Dollfus, 2022, Journal of the Endocrine Society.

Mutational spectrum of COH1 and clinical heterogeneity in Cohen syndrome

D. Horn, H. Hennies, D. Chitayat, 2005, Journal of Medical Genetics.

Comparative Natural History of Visual Function From Patients With Biallelic Variants in BBS1 and BBS10.

T. Aleman, S. Jacobson, J. Duncan, 2021, Investigative ophthalmology & visual science.

[Epidemiology of orofacial clefts (1995-2006) in France (Congenital Malformations of Alsace Registry)].

R. Favre, H. Dollfus, V. Lindner, 2012, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study

C. Lejeune, A. Boland, T. Frebourg, 2022, Frontiers in Genetics.

In vivo phenotypic and molecular characterization of retinal degeneration in mouse models of three ciliopathies.

H. Dollfus, N. Messaddeq, C. Obringer, 2019, Experimental eye research.

Human retinal guanylate cyclase (GUC2D) maps to chromosome 17p13.1.

H. Dollfus, S. Pittler, E. Viégas-Péquignot, 1994, Genomics.

A gene for Leber's congenital amaurosis maps to chromosome 17p

J. Weissenbach, A. Munnich, D. Bonneau, 1995 .

AUTOSOMAL-DOMINANT PATTERN DYSTROPHY OF THE RETINA ASSOCIATED WITH AN RDS/PERIPHERIN GENE CODON 140-4-BP INSERTION

A. Bird, F. Fitzke, H. Dollfus, 1994 .

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.

Chronic infantile neurological cutaneous and articular/neonatal onset multisystem inflammatory disease syndrome: ocular manifestations in a recently recognized chronic inflammatory disease of childhood.

A. Prieur, H. Dollfus, J. Dufier, 2000, Archives of ophthalmology.

WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects

R. Redon, A. Boland, J. Deleuze, 2023, International journal of molecular sciences.

Gillespie syndrome phenotype with a t(X;11)(p22.32;p12) de novo translocation.

H. Dollfus, P. Jonveaux, J. Dufier, 1998, American journal of ophthalmology.

Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.

H. Dollfus, C. Hamel, M. Holder, 2011, Clinical journal of the American Society of Nephrology : CJASN.

An ontological foundation for ocular phenotypes and rare eye diseases

Rachel Thompson, Peter N Robinson, Annie Olry, 2019, Orphanet Journal of Rare Diseases.

Clinical and Genetic Heterogeneity of Leber’s Congenital Amaurosis

J. Weissenbach, A. Munnich, A. Vignal, 1993 .

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.

Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome

N. Drouot, H. Dollfus, J. Chelly, 2018, European Journal of Human Genetics.

Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders

Josephine L. Gao, J. Duncan, M. Krawczyński, 2023, bioRxiv.

Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy

H. Dollfus, J. Amiel, C. Francannet, 2023, Human Mutation.

Retinal dystrophy in Bardet–Biedl syndrome and related syndromic ciliopathies

H. Dollfus, F. Stutzmann, A. Mockel, 2011, Progress in Retinal and Eye Research.

Valuing genetic and genomic testing in France: current challenges and latest evidence

C. Lejeune, T. Frebourg, J. Deleuze, 2021, Journal of Community Genetics.

[Epidemiology of age related macular degeneration].

E. Souied, G. Soubrane, G. Coscas, 2009, Journal francais d'ophtalmologie.

Variable phenotype related to a novel PAX 6 mutation (IVS4+5G>C) in a family presenting congenital nystagmus and foveal hypoplasia.

P. Calvas, H. Dollfus, M. Vincent, 2004, American journal of ophthalmology.

Corrigendum: Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome

R. Lewis, N. Katsanis, C. C. Leitch, 2008, Nature Genetics.

Current management of patients with RPE65 mutation-associated Inherited Retinal Degenerations (RPE65-IRD) in Europe. Results of a 2 years follow-up multinational survey.

K. Stingl, H. Dollfus, H. Scholl, 2023, Ophthalmic research.

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 .

Sporadic and familial blepharophimosis –ptosis–epicanthus inversus syndrome: FOXL2 mutation screen and MRI study of the superior levator eyelid muscle

H. Dollfus, F. Veillon, C. Stoetzel, 2003, Clinical genetics.

Exome Capture Reveals ZNF423 and CEP164 Mutations, Linking Renal Ciliopathies to DNA Damage Response Signaling

Colin A. Johnson, S. Levy, Shaohui Wang, 2012, Cell.

SCA15 due to large ITPR1 deletions in a cohort of 333 white families with dominant ataxia.

Janel O. Johnson, D. Hernandez, A. Singleton, 2011, Archives of neurology.

OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract

P. Calvas, D. Bonneau, P. Amati‐Bonneau, 2004, Journal of Medical Genetics.

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

N. Katsanis, A. Mégarbané, N. Philip, 2010, Human Genetics.

Large deletions of the KCNV2 gene are common in patients with cone dystrophy with supernormal rod response

R. Salati, B. Lorenz, E. Zrenner, 2011, Human mutation.

CEP152 is a genome maintenance protein disrupted in Seckel syndrome

Martin S. Taylor, J. Aerts, M. Hurles, 2011, Nature Genetics.

[Update on Bardet-Biedl syndrome].

M. Cossée, J. Mandel, A. Verloes, 2005, Journal francais d'ophtalmologie.

Isolated late-onset cone-rod dystrophy revealing a familial neurogenic muscle weakness, ataxia, and retinitis pigmentosa syndrome with the T8993G mitochondrial mutation.

J. Sahel, H. Dollfus, F. Porto, 2001, American journal of ophthalmology.

Retinal hemangioblastoma in von Hippel-Lindau disease: a clinical and molecular study.

S. Richard, P. Massin, C. Béroud, 2002, Investigative ophthalmology & visual science.

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

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

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.

A. Destée, S. Klebe, A. Durr, 2012, Brain : a journal of neurology.

Bardet-Biedl syndrome highlights the major role of the primary cilium in efficient water reabsorption.

H. Dollfus, B. Moulin, C. Stoetzel, 2011, Kidney international.

Prenatal diagnosis of focal dermal hypoplasia: Report of three fetuses and review of the literature

K. Grzeschik, E. Colin, H. Dollfus, 2017, American journal of medical genetics. Part A.