Publications

27. Geoffroy V, Guignard T, Kress A, Gaillard J-B, Solli-Nowlan T, Schalk A, Gatinois V, Dollfus H, Scheidecker S, Muller J (2021)
AnnotSV and knotAnnotSV: a web server for human structural variations annotations, ranking and analysis.
Nucleic Acids Res. doi: 10.1093/nar/gkab402

26. Chehadeh SE, Legrand A, Stoetzel C, Geoffroy V, Billon C, Adham S, Jeunemaître X, Jaussaud R, Muller J, Schaefer E, Benistan K, Gaertner S, Bloch-Zupan A, Courval A, Manière M-C, Petit C, Bursztejn A-C, Bal L, Reyre A, Chammas A, Busa T, Dollfus H, Lipsker D (2021)
Periodontal (formerly type VIII) Ehlers–Danlos syndrome: Description of 13 novel cases and expansion of the clinical phenotype.
Clinical Genetics. doi: 10.1111/cge.13972

25. Delvallée C, Nicaise S, Antin M, Leuvrey A-S, Nourisson E, Leitch CC, Kellaris G, Stoetzel C, Geoffroy V, Scheidecker S, Keren B, Depienne C, Klar J, Dahl N, Deleuze J-F, Génin E, Redon R, Demurger F, Devriendt K, Mathieu‐Dramard M, Poitou‐Bernert C, Odent S, Katsanis N, Mandel J-L, Davis EE, Dollfus H, Muller J. (2021)
A BBS1 SVA F retrotransposon insertion is a frequent cause of Bardet-Biedl syndrome.
Clinical Genetics. doi: 10.1111/cge.13878

24. Kröll-Hermi A, Ebstein F, Stoetzel C, Geoffroy V, Schaefer E, Scheidecker S, Bär S, Takamiya M, Kawakami K, Zieba BA, Studer F, Pelletier V, Eyermann C, Speeg-Schatz C, Laugel V, Lipsker D, Sandron F, McGinn S, Boland A, Deleuze JF, Kuhn L, Chicher J, Hammann P, Friant S, Etard C, Krüger E, Muller J, Strähle U, Dollfus H. (2020)
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress.
EMBO Mol Med. doi: 10.15252/emmm.201911861

23. Estrada-Cuzcano A, Etard C, Delvallée C, Stoetzel C, Schaefer E, Scheidecker S, Geoffroy V, Schneider A, Studer F, Mattioli F, Chennen K, Sigaudy S, Plassard D, Poch O, Piton A, Strahle U, Muller J, Dollfus H (2020).
Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish.
Hum. Mutat. doi: 10.1002/humu.23924

22. Balak C, Benard M, Schaefer E, Iqbal S, Ramsey K, Ernoult-Lange M, Mattioli F, Llaci L, Geoffroy V, Courel M, Naymik M, Bachman KK, Pfundt R, Rump P, Ter Beest J, Wentzensen IM, Monaghan KG, McWalter K, Richholt R, Le Béchec A, Jepsen W, De Both M, Belnap N, Boland A, Piras IS, Deleuze J-F, Szelinger S, Dollfus H, Chelly J, Muller J, Campbell A, Lal D, Rangasamy S, Mandel J-L, Narayanan V, Huentelman M, Weil D, Piton A (2019)
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation.
Am J Hum Genet. doi: 10.1016/j.ajhg.2019.07.010

21. Scheidecker S, Bär S, Stoetzel C, Geoffroy V, Lannes B, Rinaldi B, Fischer F, Becker HD, Pelletier V, Pagan C, Acquaviva-Bourdain C, Kremer S, Mirande M, Tranchant C, Muller J, Friant S, Dollfus H (2019)
Mutations in KARS cause a severe neurological and neurosensory disease with optic neuropathy.
Hum Mutat. doi: 10.1002/humu.23799

20. Laugel-Haushalter V, Bär S, Schaefer E, Stoetzel C, Geoffroy V, Alembik Y, Kharouf N, Huckert M, Hamm P, Hemmerlé J, Manière M-C, Friant S, Dollfus H, Bloch-Zupan A (2019)
A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta.
Front Genet 10: . doi: 10.3389/fgene.2019.00504

19. Schaefer E, Delvallée C, Mary L, Stoetzel C, Geoffroy V, Marks-Delesalle C, Holder-Espinasse M, Ghoumid J, Dollfus H, Muller J (2019)
Identification of biallelic mutations confirms the implication of IFT27 (BBS19) in the Bardet-Biedl Syndrome.
Front Genet 10: . doi: 10.3389/fgene.2019.00021

18. Laugel-Haushalter V, Morkmued S, Stoetzel C, Geoffroy V, Muller J, Boland A, Deleuze J-F, Chennen K, Pitiphat W, Dollfus H, Niederreither K, Bloch-Zupan A, Pungchanchaikul P (2018)
Genetic evidence supporting the role of the calcium channel, CACNA1S, in tooth cusp and root patterning.
Front Physiol 9: . doi: 10.3389/fphys.2018.01329

17. Geoffroy V, Stoetzel C, Scheidecker S, Schaefer E, Perrault I, Bär S, Kröll A, Delbarre M, Antin M, Leuvrey A-S, Henry C, Blanché H, Decker E, Kloth K, Klaus G, Mache C, Martin-Coignard D, McGinn S, Boland A, Deleuze J-F, Friant S, Saunier S, Rozet J-M, Bergmann C, Dollfus H, Muller J (2018)
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140.
Hum Mutat 39:983–992 . doi: 10.1002/humu.23539

16. Geoffroy V, Herenger Y, Kress A, Stoetzel C, Piton A, Dollfus H, Muller J (2018)
AnnotSV: An integrated tool for Structural Variations annotation.
Bioinforma Oxf Engl. doi: 10.1093/bioinformatics/bty304

15. Quartier A, Poquet H, Gilbert-Dussardier B, Rossi M, Casteleyn A-S, Portes V des, Feger C, Nourisson E, Kuentz P, Redin C, Thevenon J, Mosca-Boidron A-L, Callier P, Muller J, Lesca G, Huet F, Geoffroy V, El Chehadeh S, Jung M, Trojak B, Le Gras S, Lehalle D, Jost B, Maury S, Masurel A, Edery P, Thauvin-Robinet C, Gérard B, Mandel J-L, Faivre L, Piton A (2017)
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome.
Eur J Hum Genet EJHG 25:423–431 . doi: 10.1038/ejhg.2016.204

14. Stoetzel C, Bär S, De Craene J-O, Scheidecker S, Etard C, Chicher J, Reck JR, Perrault I, Geoffroy V, Chennen K, Strähle U, Hammann P, Friant S, Dollfus H (2016)
A mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi.
Nat Commun 7:13586 . doi: 10.1038/ncomms13586

13. Schaefer E, Stoetzel C, Scheidecker S, Geoffroy V, Prasad MK, Redin C, Missotte I, Lacombe D, Mandel J-L, Muller J, Dollfus H (2016)
Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet-Biedl syndrome.
J Hum Genet 61:447–450 . doi: 10.1038/jhg.2015.162

12. Prasad MK, Geoffroy V, Vicaire S, Jost B, Dumas M, Le Gras S, Switala M, Gasse B, Laugel-Haushalter V, Paschaki M, Leheup B, Droz D, Dalstein A, Loing A, Grollemund B, Muller-Bolla M, Lopez-Cazaux S, Minoux M, Jung S, Obry F, Vogt V, Davideau J-L, Davit-Beal T, Kaiser A-S, Moog U, Richard B, Morrier J-J, Duprez J-P, Odent S, Bailleul-Forestier I, Rousset MM, Merametdijan L, Toutain A, Joseph C, Giuliano F, Dahlet J-C, Courval A, El Alloussi M, Laouina S, Soskin S, Guffon N, Dieux A, Doray B, Feierabend S, Ginglinger E, Fournier B, de la Dure Molla M, Alembik Y, Tardieu C, Clauss F, Berdal A, Stoetzel C, Manière MC, Dollfus H, Bloch-Zupan A (2016)
A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement.
J Med Genet 53:98–110 . doi: 10.1136/jmedgenet-2015-103302

11. Bloch-Zupan A, Huckert M, Stoetzel C, Meyer J, Geoffroy V, Razafindrakoto RW, Ralison SN, Randrianaivo J-C, Ralison G, Andriamasinoro RO, Ramanampamaharana RH, Randrianazary SE, Richard B, Gorry P, Manière M-C, Rakoto Alson S, Dollfus H (2016)
Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.
Front Physiol 7:70 . doi: 10.3389/fphys.2016.00070

10. Huckert M, Stoetzel C, Morkmued S, Laugel-Haushalter V, Geoffroy V, Muller J, Clauss F, Prasad MK, Obry F, Raymond JL, Switala M, Alembik Y, Soskin S, Mathieu E, Hemmerlé J, Weickert J-L, Dabovic BB, Rifkin DB, Dheedene A, Boudin E, Caluseriu O, Cholette M-C, Mcleod R, Antequera R, Gellé M-P, Coeuriot J-L, Jacquelin L-F, Bailleul-Forestier I, Manière M-C, Van Hul W, Bertola D, Dollé P, Verloes A, Mortier G, Dollfus H, Bloch-Zupan A (2015)
Mutations in the latent TGF-beta binding protein 3 (LTBP3) gene cause brachyolmia with amelogenesis imperfecta.
Hum Mol Genet 24:3038–3049 . doi: 10.1093/hmg/ddv053

9. Scheidecker S, Etard C, Haren L, Stoetzel C, Hull S, Arno G, Plagnol V, Drunat S, Passemard S, Toutain A, Obringer C, Koob M, Geoffroy V, Marion V, Strähle U, Ostergaard P, Verloes A, Merdes A, Moore AT, Dollfus H (2015)
Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy.
Am J Hum Genet 96:666–674 . doi: 10.1016/j.ajhg.2015.02.011

8. Geoffroy V, Pizot C, Redin C, Piton A, Vasli N, Stoetzel C, Blavier A, Laporte J, Muller J (2015)
VaRank: a simple and powerful tool for ranking genetic variants.
PeerJ 3:e796 . doi: 10.7717/peerj.796

7. Redin C, Gérard B, Lauer J, Herenger Y, Muller J, Quartier A, Masurel-Paulet A, Willems M, Lesca G, El-Chehadeh S, Le Gras S, Vicaire S, Philipps M, Dumas M, Geoffroy V, Feger C, Haumesser N, Alembik Y, Barth M, Bonneau D, Colin E, Dollfus H, Doray B, Delrue M-A, Drouin-Garraud V, Flori E, Fradin M, Francannet C, Goldenberg A, Lumbroso S, Mathieu-Dramard M, Martin-Coignard D, Lacombe D, Morin G, Polge A, Sukno S, Thauvin-Robinet C, Thevenon J, Doco-Fenzy M, Genevieve D, Sarda P, Edery P, Isidor B, Jost B, Olivier-Faivre L, Mandel J-L, Piton A (2014)
Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing.
J Med Genet 51:724–736 . doi: 10.1136/jmedgenet-2014-102554

6. Scheidecker S, Etard C, Pierce NW, Geoffroy V, Schaefer E, Muller J, Chennen K, Flori E, Pelletier V, Poch O, Marion V, Stoetzel C, Strähle U, Nachury MV, Dollfus H (2014)
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18).
J Med Genet 51:132–136 . doi: 10.1136/jmedgenet-2013-101785

5. Redin C, Le Gras S, Mhamdi O, Geoffroy V, Stoetzel C, Vincent M-C, Chiurazzi P, Lacombe D, Ouertani I, Petit F, Till M, Verloes A, Jost B, Chaabouni HB, Dollfus H, Mandel J-L, Muller J (2012)
Targeted high-throughput sequencing for diagnosis of genetically heterogeneous diseases: efficient mutation detection in Bardet-Biedl and Alström syndromes.
J Med Genet 49:502–512 . doi: 10.1136/jmedgenet-2012-100875

4. Bloch-Zupan A, Jamet X, Etard C, Laugel V, Muller J, Geoffroy V, Strauss J-P, Pelletier V, Marion V, Poch O, Strahle U, Stoetzel C, Dollfus H (2011)
Homozygosity mapping and candidate prioritization identify mutations, missed by whole-exome sequencing, in SMOC2, causing major dental developmental defects.
Am J Hum Genet 89:773–781 . doi: 10.1016/j.ajhg.2011.11.002

3. Prigent V, Thierry JC, Poch O, Plewniak F (2005)
DbW: automatic update of a functional family-specific multiple alignment.
Bioinforma Oxf Engl 21:1437–1442 . doi: 10.1093/bioinformatics/bti218

2. Thompson JD, Prigent V, Poch O (2004)
LEON: multiple aLignment Evaluation Of Neighbours.
Nucleic Acids Res 32:1298–1307 . doi: 10.1093/nar/gkh294

1. Plewniak F, Bianchetti L, Brelivet Y, Carles A, Chalmel F, Lecompte O, Mochel T, Moulinier L, Muller A, Muller J, Prigent V, Ripp R, Thierry J-C, Thompson JD, Wicker N, Poch O (2003)
PipeAlign: A new toolkit for protein family analysis.
Nucleic Acids Res 31:3829–3832 . PMID: 12824430