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Items: 38

1.

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH.

Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9.

PMID:
31079897
2.

Targeted panel sequencing establishes the implication of planar cell polarity pathway and involves new candidate genes in neural tube defect disorders.

Beaumont M, Akloul L, Carré W, Quélin C, Journel H, Pasquier L, Fradin M, Odent S, Hamdi-Rozé H, Watrin E, Dupé V, Dubourg C, David V.

Hum Genet. 2019 Apr;138(4):363-374. doi: 10.1007/s00439-019-01993-y. Epub 2019 Mar 5.

PMID:
30838450
3.

Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.

Kim A, Savary C, Dubourg C, Carré W, Mouden C, Hamdi-Rozé H, Guyodo H, Douce JL; FREX Consortium; GoNL Consortium, Pasquier L, Flori E, Gonzales M, Bénéteau C, Boute O, Attié-Bitach T, Roume J, Goujon L, Akloul L, Odent S, Watrin E, Dupé V, de Tayrac M, David V.

Brain. 2019 Jan 1;142(1):35-49. doi: 10.1093/brain/awy290.

4.

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond.

Marini C, Porro A, Rastetter A, Dalle C, Rivolta I, Bauer D, Oegema R, Nava C, Parrini E, Mei D, Mercer C, Dhamija R, Chambers C, Coubes C, Thévenon J, Kuentz P, Julia S, Pasquier L, Dubourg C, Carré W, Rosati A, Melani F, Pisano T, Giardino M, Innes AM, Alembik Y, Scheidecker S, Santos M, Figueiroa S, Garrido C, Fusco C, Frattini D, Spagnoli C, Binda A, Granata T, Ragona F, Freri E, Franceschetti S, Canafoglia L, Castellotti B, Gellera C, Milanesi R, Mancardi MM, Clark DR, Kok F, Helbig KL, Ichikawa S, Sadler L, Neupauerová J, Laššuthova P, Šterbová K, Laridon A, Brilstra E, Koeleman B, Lemke JR, Zara F, Striano P, Soblet J, Smits G, Deconinck N, Barbuti A, DiFrancesco D, LeGuern E, Guerrini R, Santoro B, Hamacher K, Thiel G, Moroni A, DiFrancesco JC, Depienne C.

Brain. 2018 Nov 1;141(11):3160-3178. doi: 10.1093/brain/awy263.

5.

Transcriptional profiling of liver during the critical embryo-to-hatchling transition period in the chicken (Gallus gallus).

Cogburn LA, Trakooljul N, Chen C, Huang H, Wu CH, Carré W, Wang X, White HB 3rd.

BMC Genomics. 2018 Sep 21;19(1):695. doi: 10.1186/s12864-018-5080-4.

6.

Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar Ataxia.

Guissart C, Latypova X, Rollier P, Khan TN, Stamberger H, McWalter K, Cho MT, Kjaergaard S, Weckhuysen S, Lesca G, Besnard T, Õunap K, Schema L, Chiocchetti AG, McDonald M, de Bellescize J, Vincent M, Van Esch H, Sattler S, Forghani I, Thiffault I, Freitag CM, Barbouth DS, Cadieux-Dion M, Willaert R, Guillen Sacoto MJ, Safina NP, Dubourg C, Grote L, Carré W, Saunders C, Pajusalu S, Farrow E, Boland A, Karlowicz DH, Deleuze JF, Wojcik MH, Pressman R, Isidor B, Vogels A, Van Paesschen W, Al-Gazali L, Al Shamsi AM, Claustres M, Pujol A, Sanders SJ, Rivier F, Leboucq N, Cogné B, Sasorith S, Sanlaville D, Retterer K, Odent S, Katsanis N, Bézieau S, Koenig M, Davis EE, Pasquier L, Küry S.

Am J Hum Genet. 2018 May 3;102(5):744-759. doi: 10.1016/j.ajhg.2018.02.021. Epub 2018 Apr 12.

7.

Transcriptional profiling of liver in riboflavin-deficient chicken embryos explains impaired lipid utilization, energy depletion, massive hemorrhaging, and delayed feathering.

Cogburn LA, Smarsh DN, Wang X, Trakooljul N, Carré W, White HB 3rd.

BMC Genomics. 2018 Mar 5;19(1):177. doi: 10.1186/s12864-018-4568-2.

8.

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Küry S, van Woerden GM, Besnard T, Proietti Onori M, Latypova X, Towne MC, Cho MT, Prescott TE, Ploeg MA, Sanders S, Stessman HAF, Pujol A, Distel B, Robak LA, Bernstein JA, Denommé-Pichon AS, Lesca G, Sellars EA, Berg J, Carré W, Busk ØL, van Bon BWM, Waugh JL, Deardorff M, Hoganson GE, Bosanko KB, Johnson DS, Dabir T, Holla ØL, Sarkar A, Tveten K, de Bellescize J, Braathen GJ, Terhal PA, Grange DK, van Haeringen A, Lam C, Mirzaa G, Burton J, Bhoj EJ, Douglas J, Santani AB, Nesbitt AI, Helbig KL, Andrews MV, Begtrup A, Tang S, van Gassen KLI, Juusola J, Foss K, Enns GM, Moog U, Hinderhofer K, Paramasivam N, Lincoln S, Kusako BH, Lindenbaum P, Charpentier E, Nowak CB, Cherot E, Simonet T, Ruivenkamp CAL, Hahn S, Brownstein CA, Xia F, Schmitt S, Deb W, Bonneau D, Nizon M, Quinquis D, Chelly J, Rudolf G, Sanlaville D, Parent P, Gilbert-Dussardier B, Toutain A, Sutton VR, Thies J, Peart-Vissers LELM, Boisseau P, Vincent M, Grabrucker AM, Dubourg C; Undiagnosed Diseases Network, Tan WH, Verbeek NE, Granzow M, Santen GWE, Shendure J, Isidor B, Pasquier L, Redon R, Yang Y, State MW, Kleefstra T, Cogné B; GEM HUGO; Deciphering Developmental Disorders Study, Petrovski S, Retterer K, Eichler EE, Rosenfeld JA, Agrawal PB, Bézieau S, Odent S, Elgersma Y, Mercier S.

Am J Hum Genet. 2017 Nov 2;101(5):768-788. doi: 10.1016/j.ajhg.2017.10.003.

9.

Transcriptional analysis of abdominal fat in chickens divergently selected on bodyweight at two ages reveals novel mechanisms controlling adiposity: validating visceral adipose tissue as a dynamic endocrine and metabolic organ.

Resnyk CW, Carré W, Wang X, Porter TE, Simon J, Le Bihan-Duval E, Duclos MJ, Aggrey SE, Cogburn LA.

BMC Genomics. 2017 Aug 16;18(1):626. doi: 10.1186/s12864-017-4035-5.

10.

Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients.

Chérot E, Keren B, Dubourg C, Carré W, Fradin M, Lavillaureix A, Afenjar A, Burglen L, Whalen S, Charles P, Marey I, Heide S, Jacquette A, Heron D, Doummar D, Rodriguez D, Billette de Villemeur T, Moutard ML, Guët A, Xavier J, Périsse D, Cohen D, Demurger F, Quélin C, Depienne C, Odent S, Nava C, David V, Pasquier L, Mignot C.

Clin Genet. 2018 Mar;93(3):567-576. doi: 10.1111/cge.13102. Epub 2017 Oct 4.

11.

Matching the Diversity of Sulfated Biomolecules: Creation of a Classification Database for Sulfatases Reflecting Their Substrate Specificity.

Barbeyron T, Brillet-Guéguen L, Carré W, Carrière C, Caron C, Czjzek M, Hoebeke M, Michel G.

PLoS One. 2016 Oct 17;11(10):e0164846. doi: 10.1371/journal.pone.0164846. eCollection 2016.

12.

Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.

Dubourg C, Carré W, Hamdi-Rozé H, Mouden C, Roume J, Abdelmajid B, Amram D, Baumann C, Chassaing N, Coubes C, Faivre-Olivier L, Ginglinger E, Gonzales M, Levy-Mozziconacci A, Lynch SA, Naudion S, Pasquier L, Poidvin A, Prieur F, Sarda P, Toutain A, Dupé V, Akloul L, Odent S, de Tayrac M, David V.

Hum Mutat. 2016 Dec;37(12):1329-1339. doi: 10.1002/humu.23038. Epub 2016 Aug 23.

13.

Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45.

Fradin M, Colin E, Hannouche-Bared D, Audo I, Sahel JA, Biskup S, Carré W, Ziegler A, Wilhelm C, Guichet A, Odent S, Bonneau D.

Ophthalmic Genet. 2016 Sep;37(3):357-9. doi: 10.3109/13816810.2015.1087578. Epub 2016 Feb 22. No abstract available.

14.

Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.

Mouden C, Dubourg C, Carré W, Rose S, Quelin C, Akloul L, Hamdi-Rozé H, Viot G, Salhi H, Darnault P, Odent S, Dupé V, David V.

Clin Genet. 2016 Jun;89(6):659-68. doi: 10.1111/cge.12722. Epub 2016 Feb 16.

15.

microRNAs and the evolution of complex multicellularity: identification of a large, diverse complement of microRNAs in the brown alga Ectocarpus.

Tarver JE, Cormier A, Pinzón N, Taylor RS, Carré W, Strittmatter M, Seitz H, Coelho SM, Cock JM.

Nucleic Acids Res. 2015 Jul 27;43(13):6384-98. doi: 10.1093/nar/gkv578. Epub 2015 Jun 22.

16.

Homozygous STIL mutation causes holoprosencephaly and microcephaly in two siblings.

Mouden C, de Tayrac M, Dubourg C, Rose S, Carré W, Hamdi-Rozé H, Babron MC, Akloul L, Héron-Longe B, Odent S, Dupé V, Giet R, David V.

PLoS One. 2015 Feb 6;10(2):e0117418. doi: 10.1371/journal.pone.0117418. eCollection 2015.

17.

Mechanisms of endoderm formation in a cartilaginous fish reveal ancestral and homoplastic traits in jawed vertebrates.

Godard BG, Coolen M, Le Panse S, Gombault A, Ferreiro-Galve S, Laguerre L, Lagadec R, Wincker P, Poulain J, Da Silva C, Kuraku S, Carre W, Boutet A, Mazan S.

Biol Open. 2014 Oct 31;3(11):1098-107. doi: 10.1242/bio.20148037.

18.

Bacterial protein signals are associated with Crohn's disease.

Juste C, Kreil DP, Beauvallet C, Guillot A, Vaca S, Carapito C, Mondot S, Sykacek P, Sokol H, Blon F, Lepercq P, Levenez F, Valot B, Carré W, Loux V, Pons N, David O, Schaeffer B, Lepage P, Martin P, Monnet V, Seksik P, Beaugerie L, Ehrlich SD, Gibrat JF, Van Dorsselaer A, Doré J.

Gut. 2014 Oct;63(10):1566-77. doi: 10.1136/gutjnl-2012-303786. Epub 2014 Jan 16.

19.

Transcriptional analysis of abdominal fat in genetically fat and lean chickens reveals adipokines, lipogenic genes and a link between hemostasis and leanness.

Resnyk CW, Carré W, Wang X, Porter TE, Simon J, Le Bihan-Duval E, Duclos MJ, Aggrey SE, Cogburn LA.

BMC Genomics. 2013 Aug 16;14:557. doi: 10.1186/1471-2164-14-557.

20.

Evolution of red algal plastid genomes: ancient architectures, introns, horizontal gene transfer, and taxonomic utility of plastid markers.

Janouškovec J, Liu SL, Martone PT, Carré W, Leblanc C, Collén J, Keeling PJ.

PLoS One. 2013;8(3):e59001. doi: 10.1371/journal.pone.0059001. Epub 2013 Mar 25.

21.

Genome structure and metabolic features in the red seaweed Chondrus crispus shed light on evolution of the Archaeplastida.

Collén J, Porcel B, Carré W, Ball SG, Chaparro C, Tonon T, Barbeyron T, Michel G, Noel B, Valentin K, Elias M, Artiguenave F, Arun A, Aury JM, Barbosa-Neto JF, Bothwell JH, Bouget FY, Brillet L, Cabello-Hurtado F, Capella-Gutiérrez S, Charrier B, Cladière L, Cock JM, Coelho SM, Colleoni C, Czjzek M, Da Silva C, Delage L, Denoeud F, Deschamps P, Dittami SM, Gabaldón T, Gachon CM, Groisillier A, Hervé C, Jabbari K, Katinka M, Kloareg B, Kowalczyk N, Labadie K, Leblanc C, Lopez PJ, McLachlan DH, Meslet-Cladiere L, Moustafa A, Nehr Z, Nyvall Collén P, Panaud O, Partensky F, Poulain J, Rensing SA, Rousvoal S, Samson G, Symeonidi A, Weissenbach J, Zambounis A, Wincker P, Boyen C.

Proc Natl Acad Sci U S A. 2013 Mar 26;110(13):5247-52. doi: 10.1073/pnas.1221259110. Epub 2013 Mar 15.

22.

Identification of miRNAs associated with the follicular-luteal transition in the ruminant ovary.

McBride D, Carré W, Sontakke SD, Hogg CO, Law A, Donadeu FX, Clinton M.

Reproduction. 2012 Aug;144(2):221-33. doi: 10.1530/REP-12-0025. Epub 2012 May 31.

PMID:
22653318
23.

Host inhibits replication of European porcine reproductive and respiratory syndrome virus in macrophages by altering differential regulation of type-I interferon transcriptional response.

Ait-Ali T, Wilson AD, Carré W, Westcott DG, Frossard JP, Mellencamp MA, Mouzaki D, Matika O, Waddington D, Drew TW, Bishop SC, Archibald AL.

Immunogenetics. 2011 Jul;63(7):437-48. doi: 10.1007/s00251-011-0518-8. Epub 2011 Mar 5.

PMID:
21380581
24.

Mapping QTL for growth and shank traits in chickens divergently selected for high or low body weight.

Ankra-Badu GA, Le Bihan-Duval E, Mignon-Grasteau S, Pitel F, Beaumont C, Duclos MJ, Simon J, Carré W, Porter TE, Vignal A, Cogburn LA, Aggrey SE.

Anim Genet. 2010 Aug;41(4):400-5. doi: 10.1111/j.1365-2052.2009.02017.x. Epub 2010 Jan 20.

PMID:
20096032
25.

Regulation of ANKRD9 expression by lipid metabolic perturbations.

Wang X, Newkirk RF, Carre W, Ghose P, Igobudia B, Townsel JG, Cogburn LA.

BMB Rep. 2009 Sep 30;42(9):568-73.

26.

The Chicken Gene Nomenclature Committee report.

Burt DW, Carrë W, Fell M, Law AS, Antin PB, Maglott DR, Weber JA, Schmidt CJ, Burgess SC, McCarthy FM.

BMC Genomics. 2009 Jul 14;10 Suppl 2:S5. doi: 10.1186/1471-2164-10-S2-S5.

27.

Functional analysis of the porcine USP18 and its role during porcine arterivirus replication.

Ait-Ali T, Wilson AW, Finlayson H, Carré W, Ramaiahgari SC, Westcott DG, Waterfall M, Frossard JP, Baek KH, Drew TW, Bishop SC, Archibald AL.

Gene. 2009 Jun 15;439(1-2):35-42. doi: 10.1016/j.gene.2009.02.021. Epub 2009 Mar 11.

PMID:
19285125
28.

Functional genomics in chickens: development of integrated-systems microarrays for transcriptional profiling and discovery of regulatory pathways.

Cogburn LA, Wang X, Carre W, Rejto L, Aggrey SE, Duclos MJ, Simon J, Porter TE.

Comp Funct Genomics. 2004;5(3):253-61. doi: 10.1002/cfg.402.

29.

Whole genome comparative studies between chicken and turkey and their implications for avian genome evolution.

Griffin DK, Robertson LB, Tempest HG, Vignal A, Fillon V, Crooijmans RP, Groenen MA, Deryusheva S, Gaginskaya E, Carré W, Waddington D, Talbot R, Völker M, Masabanda JS, Burt DW.

BMC Genomics. 2008 Apr 14;9:168. doi: 10.1186/1471-2164-9-168.

30.

Manipulation of thyroid status and/or GH injection alters hepatic gene expression in the juvenile chicken.

Wang X, Carré W, Saxton AM, Cogburn LA.

Cytogenet Genome Res. 2007;117(1-4):174-88.

PMID:
17675858
31.

Chicken genomics resource: sequencing and annotation of 35,407 ESTs from single and multiple tissue cDNA libraries and CAP3 assembly of a chicken gene index.

Carre W, Wang X, Porter TE, Nys Y, Tang J, Bernberg E, Morgan R, Burnside J, Aggrey SE, Simon J, Cogburn LA.

Physiol Genomics. 2006 May 16;25(3):514-24. Epub 2006 Mar 22.

PMID:
16554550
32.

Microarray analysis of differential gene expression in the liver of lean and fat chickens.

Bourneuf E, Hérault F, Chicault C, Carré W, Assaf S, Monnier A, Mottier S, Lagarrigue S, Douaire M, Mosser J, Diot C.

Gene. 2006 May 10;372:162-70. Epub 2006 Mar 2.

PMID:
16513294
33.

Gene expression profiling during cellular differentiation in the embryonic pituitary gland using cDNA microarrays.

Ellestad LE, Carre W, Muchow M, Jenkins SA, Wang X, Cogburn LA, Porter TE.

Physiol Genomics. 2006 May 16;25(3):414-25. Epub 2006 Feb 21.

34.

Mapping quantitative trait loci affecting fatness and breast muscle weight in meat-type chicken lines divergently selected on abdominal fatness.

Lagarrigue S, Pitel F, Carré W, Abasht B, Le Roy P, Neau A, Amigues Y, Sourdioux M, Simon J, Cogburn L, Aggrey S, Leclercq B, Vignal A, Douaire M.

Genet Sel Evol. 2006 Jan-Feb;38(1):85-97.

35.
36.

Systems-wide chicken DNA microarrays, gene expression profiling, and discovery of functional genes.

Cogburn LA, Wang X, Carre W, Rejto L, Porter TE, Aggrey SE, Simon J.

Poult Sci. 2003 Jun;82(6):939-51.

PMID:
12817449
37.

Differential expression and genetic variation of hepatic messenger RNAs from genetically lean and fat chickens.

Carré W, Bourneuf E, Douaire M, Diot C.

Gene. 2002 Oct 16;299(1-2):235-43.

PMID:
12459271
38.

Development of 112 unique expressed sequence tags from chicken liver using an arbitrarily primed reverse transcriptase-polymerase chain reaction and single strand conformation gel purification method.

Carré W, Diot C, Fillon V, Crooijmans RP, Lagarrigue S, Morrisson M, Vignal A, Groenen MA, Douaire M.

Anim Genet. 2001 Oct;32(5):289-97.

PMID:
11683716

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