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Items: 29

1.

The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population.

Jalkh N, Corbani S, Haidar Z, Hamdan N, Farah E, Abou Ghoch J, Ghosn R, Salem N, Fawaz A, Djambas Khayat C, Rajab M, Mourani C, Moukarzel A, Rassi S, Gerbaka B, Mansour H, Baassiri M, Dagher R, Breich D, Mégarbané A, Desvignes JP, Delague V, Mehawej C, Chouery E.

BMC Med Genomics. 2019 Jan 21;12(1):11. doi: 10.1186/s12920-019-0474-y.

2.

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation.

Bacquet J, Stojkovic T, Boyer A, Martini N, Audic F, Chabrol B, Salort-Campana E, Delmont E, Desvignes JP, Verschueren A, Attarian S, Chaussenot A, Delague V, Levy N, Bonello-Palot N.

BMJ Open. 2018 Oct 28;8(10):e021632. doi: 10.1136/bmjopen-2018-021632.

3.

Clinical profile of comorbidity of rare diseases in a Tunisian patient: a case report associating incontinentia pigmenti and Noonan syndrome.

Ghedira N, Lagarde A, Ben Ameur K, Elouej S, Sakka R, Kerkeni E, Chioukh FZ, Olschwang S, Desvignes JP, Abdelhak S, Delague V, Lévy N, Monastiri K, De Sandre-Giovannoli A.

BMC Pediatr. 2018 Aug 29;18(1):286. doi: 10.1186/s12887-018-1259-8.

4.

Loss of Calmodulin- and Radial-Spoke-Associated Complex Protein CFAP251 Leads to Immotile Spermatozoa Lacking Mitochondria and Infertility in Men.

Auguste Y, Delague V, Desvignes JP, Longepied G, Gnisci A, Besnier P, Levy N, Beroud C, Megarbane A, Metzler-Guillemain C, Mitchell MJ.

Am J Hum Genet. 2018 Sep 6;103(3):413-420. doi: 10.1016/j.ajhg.2018.07.013. Epub 2018 Aug 16.

5.

VarAFT: a variant annotation and filtration system for human next generation sequencing data.

Desvignes JP, Bartoli M, Delague V, Krahn M, Miltgen M, Béroud C, Salgado D.

Nucleic Acids Res. 2018 Jul 2;46(W1):W545-W553. doi: 10.1093/nar/gky471.

6.

Exome sequencing identifies recurrent BCOR alterations and the absence of KLF2, TNFAIP3 and MYD88 mutations in splenic diffuse red pulp small B-cell lymphoma.

Jallades L, Baseggio L, Sujobert P, Huet S, Chabane K, Callet-Bauchu E, Verney A, Hayette S, Desvignes JP, Salgado D, Levy N, Béroud C, Felman P, Berger F, Magaud JP, Genestier L, Salles G, Traverse-Glehen A.

Haematologica. 2017 Oct;102(10):1758-1766. doi: 10.3324/haematol.2016.160192. Epub 2017 Jul 27.

7.

Exome Sequencing Identifies Two Variants of the Alkylglycerol Monooxygenase Gene as a Cause of Relapses in Visceral Leishmaniasis in Children, in Sudan.

Marquet S, Bucheton B, Reymond C, Argiro L, El-Safi SH, Kheir MM, Desvignes JP, Béroud C, Mergani A, Hammad A, Dessein AJ.

J Infect Dis. 2017 Jul 1;216(1):22-28. doi: 10.1093/infdis/jix277.

PMID:
28586473
8.

Exome sequencing reveals a de novo POLD1 mutation causing phenotypic variability in mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome (MDPL).

Elouej S, Beleza-Meireles A, Caswell R, Colclough K, Ellard S, Desvignes JP, Béroud C, Lévy N, Mohammed S, De Sandre-Giovannoli A.

Metabolism. 2017 Jun;71:213-225. doi: 10.1016/j.metabol.2017.03.011. Epub 2017 Mar 28.

9.

Shared genetic predisposition in rheumatoid arthritis-interstitial lung disease and familial pulmonary fibrosis.

Juge PA, Borie R, Kannengiesser C, Gazal S, Revy P, Wemeau-Stervinou L, Debray MP, Ottaviani S, Marchand-Adam S, Nathan N, Thabut G, Richez C, Nunes H, Callebaut I, Justet A, Leulliot N, Bonnefond A, Salgado D, Richette P, Desvignes JP, Lioté H, Froguel P, Allanore Y, Sand O, Dromer C, Flipo RM, Clément A, Béroud C, Sibilia J, Coustet B, Cottin V, Boissier MC, Wallaert B, Schaeverbeke T, Dastot le Moal F, Frazier A, Ménard C, Soubrier M, Saidenberg N, Valeyre D, Amselem S; FREX consortium, Boileau C, Crestani B, Dieudé P.

Eur Respir J. 2017 May 11;49(5). pii: 1602314. doi: 10.1183/13993003.02314-2016. Print 2017 May.

10.

New advances in DPYD genotype and risk of severe toxicity under capecitabine.

Etienne-Grimaldi MC, Boyer JC, Beroud C, Mbatchi L, van Kuilenburg A, Bobin-Dubigeon C, Thomas F, Chatelut E, Merlin JL, Pinguet F, Ferrand C, Meijer J, Evrard A, Llorca L, Romieu G, Follana P, Bachelot T, Chaigneau L, Pivot X, Dieras V, Largillier R, Mousseau M, Goncalves A, Roché H, Bonneterre J, Servent V, Dohollou N, Château Y, Chamorey E, Desvignes JP, Salgado D, Ferrero JM, Milano G.

PLoS One. 2017 May 8;12(5):e0175998. doi: 10.1371/journal.pone.0175998. eCollection 2017.

11.

WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases.

Pinard A, Salgado D, Desvignes JP, Rai G, Hanna N, Arnaud P, Guien C, Martinez M, Faivre L, Jondeau G, Boileau C, Zaffran S, Béroud C, Collod-Béroud G.

Hum Mutat. 2016 Dec;37(12):1308-1317. doi: 10.1002/humu.23119. Epub 2016 Oct 10.

PMID:
27647783
12.

Actionable Genes, Core Databases, and Locus-Specific Databases.

Pinard A, Miltgen M, Blanchard A, Mathieu H, Desvignes JP, Salgado D, Fabre A, Arnaud P, Barré L, Krahn M, Grandval P, Olschwang S, Zaffran S, Boileau C, Béroud C, Collod-Béroud G.

Hum Mutat. 2016 Dec;37(12):1299-1307. doi: 10.1002/humu.23112. Epub 2016 Sep 26.

PMID:
27600092
13.

How to Identify Pathogenic Mutations among All Those Variations: Variant Annotation and Filtration in the Genome Sequencing Era.

Salgado D, Bellgard MI, Desvignes JP, Béroud C.

Hum Mutat. 2016 Dec;37(12):1272-1282. doi: 10.1002/humu.23110. Epub 2016 Sep 26. Review.

PMID:
27599893
14.

Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders.

Gorokhova S, Cerino M, Mathieu Y, Courrier S, Desvignes JP, Salgado D, Béroud C, Krahn M, Bartoli M.

Appl Transl Genom. 2015 Sep 4;7:26-31. doi: 10.1016/j.atg.2015.07.006. eCollection 2015 Dec.

15.

Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton.

Lacoste C, Desvignes JP, Salgado D, Pecheux C, Villard L, Bartoli M, Beroud C, Levy N, Badens C, Krahn M.

J Genet. 2016 Mar;95(1):203-8. No abstract available.

16.

UMD-Predictor: A High-Throughput Sequencing Compliant System for Pathogenicity Prediction of any Human cDNA Substitution.

Salgado D, Desvignes JP, Rai G, Blanchard A, Miltgen M, Pinard A, Lévy N, Collod-Béroud G, Béroud C.

Hum Mutat. 2016 May;37(5):439-46. doi: 10.1002/humu.22965. Epub 2016 Feb 22.

17.

Aubergine iCLIP Reveals piRNA-Dependent Decay of mRNAs Involved in Germ Cell Development in the Early Embryo.

Barckmann B, Pierson S, Dufourt J, Papin C, Armenise C, Port F, Grentzinger T, Chambeyron S, Baronian G, Desvignes JP, Curk T, Simonelig M.

Cell Rep. 2015 Aug 18;12(7):1205-16. doi: 10.1016/j.celrep.2015.07.030. Epub 2015 Aug 6.

18.

A mutation in the Gardos channel is associated with hereditary xerocytosis.

Rapetti-Mauss R, Lacoste C, Picard V, Guitton C, Lombard E, Loosveld M, Nivaggioni V, Dasilva N, Salgado D, Desvignes JP, Béroud C, Viout P, Bernard M, Soriani O, Vinti H, Lacroze V, Feneant-Thibault M, Thuret I, Guizouarn H, Badens C.

Blood. 2015 Sep 10;126(11):1273-80. doi: 10.1182/blood-2015-04-642496. Epub 2015 Jul 6.

19.

PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.

Jobling RK, Assoum M, Gakh O, Blaser S, Raiman JA, Mignot C, Roze E, Dürr A, Brice A, Lévy N, Prasad C, Paton T, Paterson AD, Roslin NM, Marshall CR, Desvignes JP, Roëckel-Trevisiol N, Scherer SW, Rouleau GA, Mégarbané A, Isaya G, Delague V, Yoon G.

Brain. 2015 Jun;138(Pt 6):1505-17. doi: 10.1093/brain/awv057. Epub 2015 Mar 25.

20.

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing.

Sevy A, Cerino M, Gorokhova S, Dionnet E, Mathieu Y, Verschueren A, Franques J, Maues de Paula A, Figarella-Branger D, Lagarde A, Desvignes JP, Béroud C, Attarian S, Levy N, Bartoli M, Krahn M, Campana-Salort E, Pouget J.

J Neurol Neurosurg Psychiatry. 2016 Mar;87(3):340-2. doi: 10.1136/jnnp-2014-309663. Epub 2015 Mar 17. No abstract available.

PMID:
25783436
21.

In-cell intrabody selection from a diverse human library identifies C12orf4 protein as a new player in rodent mast cell degranulation.

Mazuc E, Guglielmi L, Bec N, Parez V, Hahn CS, Mollevi C, Parrinello H, Desvignes JP, Larroque C, Jupp R, Dariavach P, Martineau P.

PLoS One. 2014 Aug 14;9(8):e104998. doi: 10.1371/journal.pone.0104998. eCollection 2014.

22.

Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients.

Bartoli M, Desvignes JP, Nicolas L, Martin K.

Muscle Nerve. 2014 Dec;50(6):1007-10. doi: 10.1002/mus.24344. Epub 2014 Oct 30. Erratum in: Muscle Nerve. 2015 Apr;51(4):628.

PMID:
25046369
23.

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia.

Mehawej C, Delahodde A, Legeai-Mallet L, Delague V, Kaci N, Desvignes JP, Kibar Z, Capo-Chichi JM, Chouery E, Munnich A, Cormier-Daire V, Mégarbané A.

PLoS Genet. 2014 May 1;10(5):e1004311. doi: 10.1371/journal.pgen.1004311. eCollection 2014 May.

24.

Uncoupling of molecular maturation from peripheral target innervation in nociceptors expressing a chimeric TrkA/TrkC receptor.

Gorokhova S, Gaillard S, Urien L, Malapert P, Legha W, Baronian G, Desvignes JP, Alonso S, Moqrich A.

PLoS Genet. 2014 Feb 6;10(2):e1004081. doi: 10.1371/journal.pgen.1004081. eCollection 2014 Feb.

25.

A genetic screen for functional partners of condensin in fission yeast.

Robellet X, Fauque L, Legros P, Mollereau E, Janczarski S, Parrinello H, Desvignes JP, Thevenin M, Bernard P.

G3 (Bethesda). 2014 Feb 19;4(2):373-81. doi: 10.1534/g3.113.009621.

26.

Mutations in BCAP31 cause a severe X-linked phenotype with deafness, dystonia, and central hypomyelination and disorganize the Golgi apparatus.

Cacciagli P, Sutera-Sardo J, Borges-Correia A, Roux JC, Dorboz I, Desvignes JP, Badens C, Delepine M, Lathrop M, Cau P, Lévy N, Girard N, Sarda P, Boespflug-Tanguy O, Villard L.

Am J Hum Genet. 2013 Sep 5;93(3):579-86. doi: 10.1016/j.ajhg.2013.07.023.

27.

Ecto- and endoparasite induce similar chemical and brain neurogenomic responses in the honey bee (Apis mellifera).

McDonnell CM, Alaux C, Parrinello H, Desvignes JP, Crauser D, Durbesson E, Beslay D, Le Conte Y.

BMC Ecol. 2013 Jul 17;13:25. doi: 10.1186/1472-6785-13-25.

28.

AP1S2 is mutated in X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizures (Pettigrew syndrome).

Cacciagli P, Desvignes JP, Girard N, Delepine M, Zelenika D, Lathrop M, Lévy N, Ledbetter DH, Dobyns WB, Villard L.

Eur J Hum Genet. 2014 Mar;22(3):363-8. doi: 10.1038/ejhg.2013.135. Epub 2013 Jun 12.

29.

Essential requirement for β-arrestin2 in mouse intestinal tumors with elevated Wnt signaling.

Bonnans C, Flacelière M, Grillet F, Dantec C, Desvignes JP, Pannequin J, Severac D, Dubois E, Bibeau F, Escriou V, Crespy P, Journot L, Hollande F, Joubert D.

Proc Natl Acad Sci U S A. 2012 Feb 21;109(8):3047-52. doi: 10.1073/pnas.1109457109. Epub 2012 Feb 6.

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