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Items: 1 to 50 of 128

1.

High HFE mutation incidence in idiopathic erythrocytosis.

Burlet B, Bourgeois V, Buriller C, Aral B, Airaud F, Garrec C, Bézieau S, Gardie B, Girodon F.

Br J Haematol. 2018 Nov 8. doi: 10.1111/bjh.15631. [Epub ahead of print] No abstract available.

PMID:
30407617
2.

Leptin gene variants and colorectal cancer risk: Sex-specific associations.

Chun KA, Kocarnik JM, Hardikar SS, Robinson JR, Berndt SI, Chan AT, Figueiredo JC, Lindor NM, Song M, Schoen RE, Hayes RB, Potter JD, Nassir R, Bézieau S, Le Marchand L, Slattery ML, White E, Peters U, Newcomb PA.

PLoS One. 2018 Oct 31;13(10):e0206519. doi: 10.1371/journal.pone.0206519. eCollection 2018.

3.

New splicing pathogenic variant in EBP causing extreme familial variability of Conradi-Hünermann-Happle Syndrome.

Pacault M, Vincent M, Besnard T, Kannengiesser C, Bénéteau C, Barbarot S, Latypova X, Belabbas K, Lamazière A, Winer N, Joubert M, Bézieau S, Isidor B, Mercier S, Nizon M, Leclerc-Mercier S, Hadj-Rabia S, Dufernez F.

Eur J Hum Genet. 2018 Aug 22. doi: 10.1038/s41431-018-0217-0. [Epub ahead of print]

PMID:
30135486
4.

Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability.

Vuillaume ML, Cogné B, Jeanne M, Boland A, Ung DC, Quinquis D, Besnard T, Deleuze JF, Redon R, Bézieau S, Laumonnier F, Toutain A.

Clin Chim Acta. 2018 Oct;485:218-223. doi: 10.1016/j.cca.2018.06.048. Epub 2018 Jun 30.

PMID:
29969624
5.

Novel Common Genetic Susceptibility Loci for Colorectal Cancer.

Schmit SL, Edlund CK, Schumacher FR, Gong J, Harrison TA, Huyghe JR, Qu C, Melas M, Van Den Berg DJ, Wang H, Tring S, Plummer SJ, Albanes D, Alonso MH, Amos CI, Anton K, Aragaki AK, Arndt V, Barry EL, Berndt SI, Bezieau S, Bien S, Bloomer A, Boehm J, Boutron-Ruault MC, Brenner H, Brezina S, Buchanan DD, Butterbach K, Caan BJ, Campbell PT, Carlson CS, Castelao JE, Chan AT, Chang-Claude J, Chanock SJ, Cheng I, Cheng YW, Chin LS, Church JM, Church T, Coetzee GA, Cotterchio M, Cruz Correa M, Curtis KR, Duggan D, Easton DF, English D, Feskens EJM, Fischer R, FitzGerald LM, Fortini BK, Fritsche LG, Fuchs CS, Gago-Dominguez M, Gala M, Gallinger SJ, Gauderman WJ, Giles GG, Giovannucci EL, Gogarten SM, Gonzalez-Villalpando C, Gonzalez-Villalpando EM, Grady WM, Greenson JK, Gsur A, Gunter M, Haiman CA, Hampe J, Harlid S, Harju JF, Hayes RB, Hofer P, Hoffmeister M, Hopper JL, Huang SC, Huerta JM, Hudson TJ, Hunter DJ, Idos GE, Iwasaki M, Jackson RD, Jacobs EJ, Jee SH, Jenkins MA, Jia WH, Jiao S, Joshi AD, Kolonel LN, Kono S, Kooperberg C, Krogh V, Kuehn T, Küry S, LaCroix A, Laurie CA, Lejbkowicz F, Lemire M, Lenz HJ, Levine D, Li CI, Li L, Lieb W, Lin Y, Lindor NM, Liu YR, Loupakis F, Lu Y, Luh F, Ma J, Mancao C, Manion FJ, Markowitz SD, Martin V, Matsuda K, Matsuo K, McDonnell KJ, McNeil CE, Milne R, Molina AJ, Mukherjee B, Murphy N, Newcomb PA, Offit K, Omichessan H, Palli D, Cotoré JPP, Pérez-Mayoral J, Pharoah PD, Potter JD, Qu C, Raskin L, Rennert G, Rennert HS, Riggs BM, Schafmayer C, Schoen RE, Sellers TA, Seminara D, Severi G, Shi W, Shibata D, Shu XO, Siegel EM, Slattery ML, Southey M, Stadler ZK, Stern MC, Stintzing S, Taverna D, Thibodeau SN, Thomas DC, Trichopoulou A, Tsugane S, Ulrich CM, van Duijnhoven FJB, van Guelpan B, Vijai J, Virtamo J, Weinstein SJ, White E, Win AK, Wolk A, Woods M, Wu AH, Wu K, Xiang YB, Yen Y, Zanke BW, Zeng YX, Zhang B, Zubair N, Kweon SS, Figueiredo JC, Zheng W, Marchand LL, Lindblom A, Moreno V, Peters U, Casey G, Hsu L, Conti DV, Gruber SB.

J Natl Cancer Inst. 2018 Jun 16. doi: 10.1093/jnci/djy099. [Epub ahead of print]

PMID:
29917119
6.

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.

Lenglet M, Robriquet F, Schwarz K, Camps C, Couturier A, Hoogewijs D, Buffet A, Knight SJL, Gad S, Couvé S, Chesnel F, Pacault M, Lindenbaum P, Job S, Dumont S, Besnard T, Cornec M, Dreau H, Pentony M, Kvikstad E, Deveaux S, Burnichon N, Ferlicot S, Vilaine M, Mazzella JM, Airaud F, Garrec C, Heidet L, Irtan S, Mantadakis E, Bouchireb K, Debatin KM, Redon R, Bezieau S, Bressac-de Paillerets B, Teh BT, Girodon F, Randi ML, Putti MC, Bours V, Van Wijk R, Göthert JR, Kattamis A, Janin N, Bento C, Taylor JC, Arlot-Bonnemains Y, Richard S, Gimenez-Roqueplo AP, Cario H, Gardie B.

Blood. 2018 Aug 2;132(5):469-483. doi: 10.1182/blood-2018-03-838235. Epub 2018 Jun 11.

PMID:
29891534
7.

Mendelian randomisation study of age at menarche and age at menopause and the risk of colorectal cancer.

Neumeyer S, Banbury BL, Arndt V, Berndt SI, Bezieau S, Bien SA, Buchanan DD, Butterbach K, Caan BJ, Campbell PT, Casey G, Chan AT, Chanock SJ, Dai JY, Gallinger S, Giovannucci EL, Giles GG, Grady WM, Hampe J, Hoffmeister M, Hopper JL, Hsu L, Jenkins MA, Joshi A, Larsson SC, Le Marchand L, Lindblom A, Moreno V, Lemire M, Li L, Lin Y, Offit K, Newcomb PA, Pharaoh PD, Potter JD, Qi L, Rennert G, Schafmayer C, Schoen RE, Slattery ML, Song M, Ulrich CM, Win AK, White E, Wolk A, Woods MO, Wu AH, Gruber SB, Brenner H, Peters U, Chang-Claude J.

Br J Cancer. 2018 Jun;118(12):1639-1647. doi: 10.1038/s41416-018-0108-8. Epub 2018 May 24.

PMID:
29795306
8.

A Mixed-Effects Model for Powerful Association Tests in Integrative Functional Genomics.

Su YR, Di C, Bien S, Huang L, Dong X, Abecasis G, Berndt S, Bezieau S, Brenner H, Caan B, Casey G, Chang-Claude J, Chanock S, Chen S, Connolly C, Curtis K, Figueiredo J, Gala M, Gallinger S, Harrison T, Hoffmeister M, Hopper J, Huyghe JR, Jenkins M, Joshi A, Le Marchand L, Newcomb P, Nickerson D, Potter J, Schoen R, Slattery M, White E, Zanke B, Peters U, Hsu L.

Am J Hum Genet. 2018 May 3;102(5):904-919. doi: 10.1016/j.ajhg.2018.03.019.

9.

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.

10.

A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett-like phenotype.

Vuillaume ML, Jeanne M, Xue L, Blesson S, Denommé-Pichon AS, Alirol S, Brulard C, Colin E, Isidor B, Gilbert-Dussardier B, Odent S, Parent P, Donnart A, Redon R, Bézieau S, Rondard P, Laumonnier F, Toutain A.

Ann Neurol. 2018 Feb;83(2):437-439. doi: 10.1002/ana.25155. Epub 2018 Feb 7. No abstract available.

PMID:
29369404
11.

Identification of shared genetic variants between schizophrenia and lung cancer.

Zuber V, Jönsson EG, Frei O, Witoelar A, Thompson WK, Schork AJ, Bettella F, Wang Y, Djurovic S, Smeland OB, Dieset I, Fanous AH, Desikan RS, Küry S, Bézieau S, Dale AM, Mills IG, Andreassen OA.

Sci Rep. 2018 Jan 12;8(1):674. doi: 10.1038/s41598-017-16481-4.

12.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Lessel D, Schob C, Küry S, Reijnders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, Besnard T, Cogné B, Revah-Politi A, Strom TM, Rosenfeld JA, Yang Y, Posey JE, Immken L, Oundjian N, Helbig KL, Meeks N, Zegar K, Morton J, The Ddd Study, Schieving JH, Claasen A, Huentelman M, Narayanan V, Ramsey K; C4RCD Research Group, Brunner HG, Elpeleg O, Mercier S, Bézieau S, Kubisch C, Kleefstra T, Kindler S, Lupski JR, Kreienkamp HJ.

Am J Hum Genet. 2018 Jan 4;102(1):196. doi: 10.1016/j.ajhg.2017.12.016. No abstract available.

13.

Enrichment of colorectal cancer associations in functional regions: Insight for using epigenomics data in the analysis of whole genome sequence-imputed GWAS data.

Bien SA, Auer PL, Harrison TA, Qu C, Connolly CM, Greenside PG, Chen S, Berndt SI, Bézieau S, Kang HM, Huyghe J, Brenner H, Casey G, Chan AT, Hopper JL, Banbury BL, Chang-Claude J, Chanock SJ, Haile RW, Hoffmeister M, Fuchsberger C, Jenkins MA, Leal SM, Lemire M, Newcomb PA, Gallinger S, Potter JD, Schoen RE, Slattery ML, Smith JD, Le Marchand L, White E, Zanke BW, Abeçasis GR, Carlson CS, Peters U, Nickerson DA, Kundaje A, Hsu L; GECCO and CCFR.

PLoS One. 2017 Nov 21;12(11):e0186518. doi: 10.1371/journal.pone.0186518. eCollection 2017.

14.

Transient neonatal zinc deficiency in exclusively breastfed preterm infants.

Watson L, Cartwright D, Jardine LA, Pincus D, Koorts P, Kury S, Bezieau S, George S, Moloney S, Holt J, Coman D.

J Paediatr Child Health. 2018 Mar;54(3):319-322. doi: 10.1111/jpc.13780. Epub 2017 Nov 16. No abstract available.

PMID:
29143460
15.

Two novel variants of uncertain significance in GP9 associated with Bernard-Soulier syndrome: Are they true mutations?

Boisseau P, Debord C, Eveillard M, Quéméner A, Sigaud M, Giraud M, Talarmain P, Thomas C, Landeau G, Bezieau S, Petesch BP, Béné MC, Fouassier M.

Platelets. 2018 May;29(3):316-318. doi: 10.1080/09537104.2017.1371288. Epub 2017 Nov 9.

PMID:
29119855
16.

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.

17.

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.

Lessel D, Schob C, Küry S, Reijnders MRF, Harel T, Eldomery MK, Coban-Akdemir Z, Denecke J, Edvardson S, Colin E, Stegmann APA, Gerkes EH, Tessarech M, Bonneau D, Barth M, Besnard T, Cogné B, Revah-Politi A, Strom TM, Rosenfeld JA, Yang Y, Posey JE, Immken L, Oundjian N, Helbig KL, Meeks N, Zegar K, Morton J; DDD study, Schieving JH, Claasen A, Huentelman M, Narayanan V, Ramsey K; C4RCD Research Group, Brunner HG, Elpeleg O, Mercier S, Bézieau S, Kubisch C, Kleefstra T, Kindler S, Lupski JR, Kreienkamp HJ.

Am J Hum Genet. 2017 Nov 2;101(5):716-724. doi: 10.1016/j.ajhg.2017.09.014. Erratum in: Am J Hum Genet. 2018 Jan 4;102(1):196.

18.

Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis.

Le Meur G, Lebranchu P, Billaud F, Adjali O, Schmitt S, Bézieau S, Péréon Y, Valabregue R, Ivan C, Darmon C, Moullier P, Rolling F, Weber M.

Mol Ther. 2018 Jan 3;26(1):256-268. doi: 10.1016/j.ymthe.2017.09.014. Epub 2017 Sep 19.

PMID:
29033008
19.

Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.

Lebeault M, Pinson S, Guillaud-Bataille M, Gimenez-Roqueplo AP, Carrie A, Barbu V, Pigny P, Bezieau S, Rey JM, Delvincourt C, Giraud S, Veyrat-Durebex C, Saulnier P, Bouzamondo N, Chabbert M, Blin J, Mohamed A, Romanet P, Borson-Chazot F, Rohmer V, Barlier A, Mirebeau-Prunier D.

Thyroid. 2017 Dec;27(12):1511-1522. doi: 10.1089/thy.2016.0399. Epub 2017 Nov 3.

PMID:
28946813
20.

Inherited variation in circadian rhythm genes and risks of prostate cancer and three other cancer sites in combined cancer consortia.

Gu F, Zhang H, Hyland PL, Berndt S, Gapstur SM, Wheeler W, Ellipse Consortium T, Amos CI, Bezieau S, Bickeböller H, Brenner H, Brennan P, Chang-Claude J, Conti DV, Doherty JA, Gruber SB, Harrison TA, Hayes RB, Hoffmeister M, Houlston RS, Hung RJ, Jenkins MA, Kraft P, Lawrenson K, McKay J, Markt S, Mucci L, Phelan CM, Qu C, Risch A, Rossing MA, Wichmann HE, Shi J, Schernhammer E, Yu K, Landi MT, Caporaso NE.

Int J Cancer. 2017 Nov 1;141(9):1794-1802. doi: 10.1002/ijc.30883. Epub 2017 Jul 29.

21.

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.

Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AMA, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Denommé-Pichon AS, Charif M, Besnard T, Bézieau S, Cogné B, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SW, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, Xia F, Stankiewicz P.

Hum Genet. 2017 Aug;136(8):1009-1011. doi: 10.1007/s00439-017-1828-1. No abstract available.

PMID:
28660352
22.

ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia.

Nizon M, Küry S, Péréon Y, Besnard T, Quinquis D, Boisseau P, Marsaud T, Magot A, Mussini JM, Mayrargue E, Barbarot S, Bézieau S, Isidor B.

Clin Genet. 2018 Jan;93(1):169-172. doi: 10.1111/cge.13048. Epub 2017 Aug 31.

PMID:
28471035
23.

Corrigendum: Novel KCNB1 mutation associated with non-syndromic intellectual disability.

Latypova X, Matsumoto N, Vinceslas-Muller C, Bézieau S, Isidor B, Miyake N.

J Hum Genet. 2017 Apr;62(5):585. doi: 10.1038/jhg.2017.17. No abstract available.

PMID:
28439095
24.

Mapping clinicopathological entities within colorectal mucinous adenocarcinomas: a hierarchical clustering approach.

Liddell C, Droy-Dupré L, Métairie S, Airaud F, Volteau C, Bezieau S, Laboisse CL, Mosnier JF.

Mod Pathol. 2017 Aug;30(8):1177-1189. doi: 10.1038/modpathol.2017.18. Epub 2017 Apr 21.

25.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Küry S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Craigen WJ, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho MT, Roeder E, Denommé-Pichon AS, Monaghan KG, Yuan B, Xia F, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Pasquier L, Barbouth D, Shaw CA, Patel A, Smith JL, Bi W, Schmitt S, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Malan V, Briceño I, Gómez A, Nugent KM, Gibson JB, Cogné B, Lupski JR, Stessman HA, Eichler EE, Retterer K, Yang Y, Redon R, Katsanis N, Rosenfeld JA, Kloetzel PM, Golzio C, Bézieau S, Stankiewicz P, Isidor B.

Am J Hum Genet. 2017 Apr 6;100(4):689. doi: 10.1016/j.ajhg.2017.03.003. No abstract available.

26.

Biallelic Variants in OTUD6B Cause an Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features.

Santiago-Sim T, Burrage LC, Ebstein F, Tokita MJ, Miller M, Bi W, Braxton AA, Rosenfeld JA, Shahrour M, Lehmann A, Cogné B, Küry S, Besnard T, Isidor B, Bézieau S, Hazart I, Nagakura H, Immken LL, Littlejohn RO, Roeder E; EuroEPINOMICS RES Consortium Autosomal Recessive working group, S. Hande Caglayan, Kara B, Hardies K, Weckhuysen S, May P, Lemke JR, Elpeleg O, Abu-Libdeh B, James KN, Silhavy JL, Issa MY, Zaki MS, Gleeson JG, Seavitt JR, Dickinson ME, Ljungberg MC, Wells S, Johnson SJ, Teboul L, Eng CM, Yang Y, Kloetzel PM, Heaney JD, Walkiewicz MA.

Am J Hum Genet. 2017 Apr 6;100(4):676-688. doi: 10.1016/j.ajhg.2017.03.001. Epub 2017 Mar 23.

27.

Three patients presenting with severe macrosomia and congenital hypertrophic cardiomyopathy: a case series.

Vincent M, Benbrik N, Romefort B, Colombel A, Bézieau S, Isidor B.

J Med Case Rep. 2017 Mar 24;11(1):78. doi: 10.1186/s13256-017-1231-5.

28.

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.

Zhang J, Gambin T, Yuan B, Szafranski P, Rosenfeld JA, Balwi MA, Alswaid A, Al-Gazali L, Shamsi AMA, Komara M, Ali BR, Roeder E, McAuley L, Roy DS, Manchester DK, Magoulas P, King LE, Hannig V, Bonneau D, Denommé-Pichon AS, Charif M, Besnard T, Bézieau S, Cogné B, Andrieux J, Zhu W, He W, Vetrini F, Ward PA, Cheung SW, Bi W, Eng CM, Lupski JR, Yang Y, Patel A, Lalani SR, Xia F, Stankiewicz P.

Hum Genet. 2017 Apr;136(4):377-386. doi: 10.1007/s00439-017-1763-1. Epub 2017 Mar 1. Erratum in: Hum Genet. 2017 Jun 28;:.

29.

De Novo Disruption of the Proteasome Regulatory Subunit PSMD12 Causes a Syndromic Neurodevelopmental Disorder.

Küry S, Besnard T, Ebstein F, Khan TN, Gambin T, Douglas J, Bacino CA, Craigen WJ, Sanders SJ, Lehmann A, Latypova X, Khan K, Pacault M, Sacharow S, Glaser K, Bieth E, Perrin-Sabourin L, Jacquemont ML, Cho MT, Roeder E, Denommé-Pichon AS, Monaghan KG, Yuan B, Xia F, Simon S, Bonneau D, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Pasquier L, Barbouth D, Shaw CA, Patel A, Smith JL, Bi W, Schmitt S, Deb W, Nizon M, Mercier S, Vincent M, Rooryck C, Malan V, Briceño I, Gómez A, Nugent KM, Gibson JB, Cogné B, Lupski JR, Stessman HAF, Eichler EE, Retterer K, Yang Y, Redon R, Katsanis N, Rosenfeld JA, Kloetzel PM, Golzio C, Bézieau S, Stankiewicz P, Isidor B.

Am J Hum Genet. 2017 Feb 2;100(2):352-363. doi: 10.1016/j.ajhg.2017.01.003. Epub 2017 Jan 26. Erratum in: Am J Hum Genet. 2017 Apr 6;100(4):689.

30.

Gene panel sequencing in idiopathic erythrocytosis.

Girodon F, Airaud F, Garrec C, Bézieau S, Gardie B.

Haematologica. 2017 Jan;102(1):e30. doi: 10.3324/haematol.2016.158337. No abstract available.

31.

Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.

Harms FL, Girisha KM, Hardigan AA, Kortüm F, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird LM, Ceulemans S, Bebin M, Bowling KM, Hiatt SM, Lose EJ, Primiano M, Chung WK, Juusola J, Akdemir ZC, Bainbridge M, Charng WL, Drummond-Borg M, Eldomery MK, El-Hattab AW, Saleh MAM, Bézieau S, Cogné B, Isidor B, Küry S, Lupski JR, Myers RM, Cooper GM, Kutsche K.

Am J Hum Genet. 2017 Jan 5;100(1):117-127. doi: 10.1016/j.ajhg.2016.11.012. Epub 2016 Dec 22.

32.

Novel KCNB1 mutation associated with non-syndromic intellectual disability.

Latypova X, Matsumoto N, Vinceslas-Muller C, Bézieau S, Isidor B, Miyake N.

J Hum Genet. 2017 Apr;62(5):569-573. doi: 10.1038/jhg.2016.154. Epub 2016 Dec 8.

PMID:
27928161
33.

A new mutation of ANO6 in two familial cases of Scott syndrome.

Boisseau P, Bene MC, Besnard T, Pachchek S, Giraud M, Talarmain P, Robillard N, Gourlaouen MA, Bezieau S, Fouassier M.

Br J Haematol. 2018 Mar;180(5):750-752. doi: 10.1111/bjh.14439. Epub 2016 Nov 23. No abstract available.

PMID:
27879994
34.

Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing.

Baurand A, Falcon-Eicher S, Laurent G, Villain E, Bonnet C, Thauvin-Robinet C, Jacquot C, Eicher JC, Gourraud JB, Schmitt S, Bézieau S, Giraud M, Dumont S, Kuentz P, Probst V, Burguet A, Kyndt F, Faivre L.

Am J Med Genet A. 2017 Feb;173(2):531-536. doi: 10.1002/ajmg.a.38045. Epub 2016 Nov 21. Review.

PMID:
27868338
35.

Performance of multiplicom's BRCA MASTR Dx kit on the detection of BRCA1 and BRCA2 mutations in fresh frozen ovarian and breast tumor samples.

Badoer C, Garrec C, Goossens D, Ellison G, Mills J, Dzial M, El Housni H, Berwouts S, Concolino P, Guibert-Le Guevellou V, Delnatte C, Del Favero J, Capoluongo E, Bézieau S.

Oncotarget. 2016 Dec 6;7(49):81357-81366. doi: 10.18632/oncotarget.12877.

36.

Two novel variants in CNTNAP1 in two siblings presenting with congenital hypotonia and hypomyelinating neuropathy.

Nizon M, Cogne B, Vallat JM, Joubert M, Liet JM, Simon L, Vincent M, Küry S, Boisseau P, Schmitt S, Mercier S, Bénéteau C, Larrose C, Coste M, Latypova X, Péréon Y, Mussini JM, Bézieau S, Isidor B.

Eur J Hum Genet. 2016 Jan;25(1):150-152. doi: 10.1038/ejhg.2016.142. Epub 2016 Oct 26.

37.

Clinical, histological, and molecular risk factors for cancer recurrence in patients with stage II colon cancer.

Touchefeu Y, Provost-Dewitte M, Lecomte T, Morel A, Valo I, Mosnier JF, Bossard C, Eugène J, Duchalais E, Chetritt J, Guyetant S, Bézieau S, Senellart H, Caulet M, Cauchin E, Matysiak-Budnik T.

Eur J Gastroenterol Hepatol. 2016 Dec;28(12):1394-1399.

PMID:
27606947
38.

Genome-Wide Interaction Analyses between Genetic Variants and Alcohol Consumption and Smoking for Risk of Colorectal Cancer.

Gong J, Hutter CM, Newcomb PA, Ulrich CM, Bien SA, Campbell PT, Baron JA, Berndt SI, Bezieau S, Brenner H, Casey G, Chan AT, Chang-Claude J, Du M, Duggan D, Figueiredo JC, Gallinger S, Giovannucci EL, Haile RW, Harrison TA, Hayes RB, Hoffmeister M, Hopper JL, Hudson TJ, Jeon J, Jenkins MA, Kocarnik J, Küry S, Le Marchand L, Lin Y, Lindor NM, Nishihara R, Ogino S, Potter JD, Rudolph A, Schoen RE, Schrotz-King P, Seminara D, Slattery ML, Thibodeau SN, Thornquist M, Toth R, Wallace R, White E, Jiao S, Lemire M, Hsu L, Peters U; CCFR and GECCO.

PLoS Genet. 2016 Oct 10;12(10):e1006296. doi: 10.1371/journal.pgen.1006296. eCollection 2016 Oct.

39.

De Novo Truncating Variants in SON Cause Intellectual Disability, Congenital Malformations, and Failure to Thrive.

Tokita MJ, Braxton AA, Shao Y, Lewis AM, Vincent M, Küry S, Besnard T, Isidor B, Latypova X, Bézieau S, Liu P, Motter CS, Melver CW, Robin NH, Infante EM, McGuire M, El-Gharbawy A, Littlejohn RO, McLean SD, Bi W, Bacino CA, Lalani SR, Scott DA, Eng CM, Yang Y, Schaaf CP, Walkiewicz MA.

Am J Hum Genet. 2016 Sep 1;99(3):720-727. doi: 10.1016/j.ajhg.2016.06.035. Epub 2016 Aug 18.

40.

Telomere structure and maintenance gene variants and risk of five cancer types.

Karami S, Han Y, Pande M, Cheng I, Rudd J, Pierce BL, Nutter EL, Schumacher FR, Kote-Jarai Z, Lindstrom S, Witte JS, Fang S, Han J, Kraft P, Hunter DJ, Song F, Hung RJ, McKay J, Gruber SB, Chanock SJ, Risch A, Shen H, Haiman CA, Boardman L, Ulrich CM, Casey G, Peters U, Amin Al Olama A, Berchuck A, Berndt SI, Bezieau S, Brennan P, Brenner H, Brinton L, Caporaso N, Chan AT, Chang-Claude J, Christiani DC, Cunningham JM, Easton D, Eeles RA, Eisen T, Gala M, Gallinger SJ, Gayther SA, Goode EL, Grönberg H, Henderson BE, Houlston R, Joshi AD, Küry S, Landi MT, Le Marchand L, Muir K, Newcomb PA, Permuth-Wey J, Pharoah P, Phelan C, Potter JD, Ramus SJ, Risch H, Schildkraut J, Slattery ML, Song H, Wentzensen N, White E, Wiklund F, Zanke BW, Sellers TA, Zheng W, Chatterjee N, Amos CI, Doherty JA; GECCO and the GAME-ON Network: CORECT, DRIVE, ELLIPSE, FOCI, and TRICL.

Int J Cancer. 2016 Dec 15;139(12):2655-2670. doi: 10.1002/ijc.30288. Epub 2016 Sep 8.

41.

Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants.

Du M, Jiao S, Bien SA, Gala M, Abecasis G, Bezieau S, Brenner H, Butterbach K, Caan BJ, Carlson CS, Casey G, Chang-Claude J, Conti DV, Curtis KR, Duggan D, Gallinger S, Haile RW, Harrison TA, Hayes RB, Hoffmeister M, Hopper JL, Hudson TJ, Jenkins MA, Küry S, Le Marchand L, Leal SM, Newcomb PA, Nickerson DA, Potter JD, Schoen RE, Schumacher FR, Seminara D, Slattery ML, Hsu L, Chan AT, White E, Berndt SI, Peters U.

PLoS One. 2016 Jul 5;11(7):e0157521. doi: 10.1371/journal.pone.0157521. eCollection 2016.

42.

Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations.

Fehringer G, Kraft P, Pharoah PD, Eeles RA, Chatterjee N, Schumacher FR, Schildkraut JM, Lindström S, Brennan P, Bickeböller H, Houlston RS, Landi MT, Caporaso N, Risch A, Amin Al Olama A, Berndt SI, Giovannucci EL, Grönberg H, Kote-Jarai Z, Ma J, Muir K, Stampfer MJ, Stevens VL, Wiklund F, Willett WC, Goode EL, Permuth JB, Risch HA, Reid BM, Bezieau S, Brenner H, Chan AT, Chang-Claude J, Hudson TJ, Kocarnik JK, Newcomb PA, Schoen RE, Slattery ML, White E, Adank MA, Ahsan H, Aittomäki K, Baglietto L, Blomquist C, Canzian F, Czene K, Dos-Santos-Silva I, Eliassen AH, Figueroa JD, Flesch-Janys D, Fletcher O, Garcia-Closas M, Gaudet MM, Johnson N, Hall P, Hazra A, Hein R, Hofman A, Hopper JL, Irwanto A, Johansson M, Kaaks R, Kibriya MG, Lichtner P, Liu J, Lund E, Makalic E, Meindl A, Müller-Myhsok B, Muranen TA, Nevanlinna H, Peeters PH, Peto J, Prentice RL, Rahman N, Sanchez MJ, Schmidt DF, Schmutzler RK, Southey MC, Tamimi R, Travis RC, Turnbull C, Uitterlinden AG, Wang Z, Whittemore AS, Yang XR, Zheng W, Buchanan DD, Casey G, Conti DV, Edlund CK, Gallinger S, Haile RW, Jenkins M, Le Marchand L, Li L, Lindor NM, Schmit SL, Thibodeau SN, Woods MO, Rafnar T, Gudmundsson J, Stacey SN, Stefansson K, Sulem P, Chen YA, Tyrer JP, Christiani DC, Wei Y, Shen H, Hu Z, Shu XO, Shiraishi K, Takahashi A, Bossé Y, Obeidat M, Nickle D, Timens W, Freedman ML, Li Q, Seminara D, Chanock SJ, Gong J, Peters U, Gruber SB, Amos CI, Sellers TA, Easton DF, Hunter DJ, Haiman CA, Henderson BE, Hung RJ; Ovarian Cancer Association Consortium (OCAC); PRACTICAL Consortium; Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON); Colorectal Transdisciplinary (CORECT) Study; African American Breast Cancer Consortium (AABC) and African Ancestry Prostate Cancer Consortium (AAPC).

Cancer Res. 2016 Sep 1;76(17):5103-14. doi: 10.1158/0008-5472.CAN-15-2980. Epub 2016 Apr 20.

43.

Germline De Novo Mutations in GNB1 Cause Severe Neurodevelopmental Disability, Hypotonia, and Seizures.

Petrovski S, Küry S, Myers CT, Anyane-Yeboa K, Cogné B, Bialer M, Xia F, Hemati P, Riviello J, Mehaffey M, Besnard T, Becraft E, Wadley A, Politi AR, Colombo S, Zhu X, Ren Z, Andrews I, Dudding-Byth T, Schneider AL, Wallace G; University of Washington Center for Mendelian Genomics, Rosen ABI, Schelley S, Enns GM, Corre P, Dalton J, Mercier S, Latypova X, Schmitt S, Guzman E, Moore C, Bier L, Heinzen EL, Karachunski P, Shur N, Grebe T, Basinger A, Nguyen JM, Bézieau S, Wierenga K, Bernstein JA, Scheffer IE, Rosenfeld JA, Mefford HC, Isidor B, Goldstein DB.

Am J Hum Genet. 2016 May 5;98(5):1001-1010. doi: 10.1016/j.ajhg.2016.03.011. Epub 2016 Apr 21.

44.

A Laboratory Phenotype/Genotype Correlation of 1167 French Patients From 670 Families With von Willebrand Disease: A New Epidemiologic Picture.

Veyradier A, Boisseau P, Fressinaud E, Caron C, Ternisien C, Giraud M, Zawadzki C, Trossaert M, Itzhar-Baïkian N, Dreyfus M, d'Oiron R, Borel-Derlon A, Susen S, Bezieau S, Denis CV, Goudemand J; French Reference Center for von Willebrand disease.

Medicine (Baltimore). 2016 Mar;95(11):e3038. doi: 10.1097/MD.0000000000003038.

45.

De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.

Isidor B, Küry S, Rosenfeld JA, Besnard T, Schmitt S, Joss S, Davies SJ, Lebel RR, Henderson A, Schaaf CP, Streff HE, Yang Y, Jain V, Chida N, Latypova X, Le Caignec C, Cogné B, Mercier S, Vincent M, Colin E, Bonneau D, Denommé AS, Parent P, Gilbert-Dussardier B, Odent S, Toutain A, Piton A, Dina C, Donnart A, Lindenbaum P, Charpentier E, Redon R, Iemura K, Ikeda M, Tanaka K, Bézieau S.

Hum Mutat. 2016 Apr;37(4):354-8. doi: 10.1002/humu.22952. Epub 2016 Feb 4.

46.

Autosomal-Recessive Intellectual Disability with Cerebellar Atrophy Syndrome Caused by Mutation of the Manganese and Zinc Transporter Gene SLC39A8.

Boycott KM, Beaulieu CL, Kernohan KD, Gebril OH, Mhanni A, Chudley AE, Redl D, Qin W, Hampson S, Küry S, Tetreault M, Puffenberger EG, Scott JN, Bezieau S, Reis A, Uebe S, Schumacher J, Hegele RA, McLeod DR, Gálvez-Peralta M, Majewski J, Ramaekers VT; Care4Rare Canada Consortium, Nebert DW, Innes AM, Parboosingh JS, Abou Jamra R.

Am J Hum Genet. 2015 Dec 3;97(6):886-93. doi: 10.1016/j.ajhg.2015.11.002.

47.

Clinical utility gene card for: Biotinidase deficiency-update 2015.

Küry S, Ramaekers V, Bézieau S, Wolf B.

Eur J Hum Genet. 2016 Jul;24(7). doi: 10.1038/ejhg.2015.246. Epub 2015 Nov 18. Review. No abstract available.

48.

Corrigendum: genome-wide association study of colorectal cancer identifies six new susceptibility loci.

Schumacher FR, Schmit SL, Jiao S, Edlund CK, Wang H, Zhang B, Hsu L, Huang SC, Fischer CP, Harju JF, Idos GE, Lejbkowicz F, Manion FJ, McDonnell K, McNeil CE, Melas M, Rennert HS, Shi W, Thomas DC, Van Den Berg DJ, Hutter CM, Aragaki AK, Butterbach K, Caan BJ, Carlson CS, Chanock SJ, Curtis KR, Fuchs CS, Gala M, Giovannucci EL, Gogarten SM, Hayes RB, Henderson B, Hunter DJ, Jackson RD, Kolonel LN, Kooperberg C, Küry S, LaCroix A, Laurie CC, Laurie CA, Lemire M, Levine D, Ma J, Makar KW, Qu C, Taverna D, Ulrich CM, Wu K, Kono S, West DW, Berndt SI, Bezieau S, Brenner H, Campbell PT, Chan AT, Chang-Claude J, Coetzee GA, Conti DV, Duggan D, Figueiredo JC, Fortini BK, Gallinger SJ, Gauderman WJ, Giles G, Green R, Haile R, Harrison TA, Hoffmeister M, Hopper JL, Hudson TJ, Jacobs E, Iwasaki M, Jee SH, Jenkins M, Jia WH, Joshi A, Li L, Lindor NM, Matsuo K, Moreno V, Mukherjee B, Newcomb PA, Potter JD, Raskin L, Rennert G, Rosse S, Severi G, Schoen RE, Seminara D, Shu XO, Slattery ML, Tsugane S, White E, Xiang YB, Zanke BW, Zheng W, Le Marchand L, Casey G, Gruber SB, Peters U.

Nat Commun. 2015 Oct 26;6:8739. doi: 10.1038/ncomms9739. No abstract available.

PMID:
26498495
49.

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.

Mercier S, Küry S, Salort-Campana E, Magot A, Agbim U, Besnard T, Bodak N, Bou-Hanna C, Bréhéret F, Brunelle P, Caillon F, Chabrol B, Cormier-Daire V, David A, Eymard B, Faivre L, Figarella-Branger D, Fleurence E, Ganapathi M, Gherardi R, Goldenberg A, Hamel A, Igual J, Irvine AD, Israël-Biet D, Kannengiesser C, Laboisse C, Le Caignec C, Mahé JY, Mallet S, MacGowan S, McAleer MA, McLean I, Méni C, Munnich A, Mussini JM, Nagy PL, Odel J, O'Regan GM, Péréon Y, Perrier J, Piard J, Puzenat E, Sampson JB, Smith F, Soufir N, Tanji K, Thauvin C, Ulane C, Watson RM, Khumalo NP, Mayosi BM, Barbarot S, Bézieau S.

Orphanet J Rare Dis. 2015 Oct 15;10:135. doi: 10.1186/s13023-015-0352-4.

50.

Clinical utility gene card for: acrodermatitis enteropathica - update 2015.

Küry S, Kharfi M, Blouin E, Schmitt S, Bézieau S.

Eur J Hum Genet. 2016 May;24(5). doi: 10.1038/ejhg.2015.203. Epub 2015 Oct 7. No abstract available.

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