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Scientific publications

The Bank Laboratory


Published on 16 March 2018
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodevelopmental abnormalities
Carmignac V, Mignot C, Blanchard E, Kuentz P, Aubriot-Lorton MH, Parker VER, Sorlin A, Fraitag S, Courcet JB, Duffourd Y, Rodriguez D, Knox RG, Polubothu S, Boland A, Olaso R, Delepine M, Darmency V, Riachi M, Quelin C, Rollier P, Goujon L, Grotto S, Capri Y, Jacquemont ML, Odent S, Amram D, Chevarin M, Vincent-Delorme C, Catteau B, Guibaud L, Arzimanoglou A, Keddar M, Sarret C, Callier P, Bessis D, Genevieve D, Deleuze JF, Thauvin C, Semple RK, Philippe C, Riviere JB, Kinsler VA, Faivre L, Vabres P, Martin L, Caux F, Puzenat E, Lacombe D, Taieb A, Leaute-Labreze C, Bardou M, Thauvin-Robinet C, Manouvrier S, Edery P, Phan A, Sigaudy S, Le Blay J, Bursztejn AC, Barbarot S, Bodemer C, Cormier-Daire V, Chiaverini C, Eschard C, Bourrat-Remy E, Verloes A, Lipsker D, Mazereeuw-Hautier J, Maruani A, Guerrot AM, Duvert-Lehembre S and Mosaique PN
Genomic insights into population history and biological adaptation in Oceania
Choin J, Mendoza-Revilla J, Arauna LR, Cuadros-Espinoza S, Cassar O, Larena M, Ko AMS, Harmant C, Laurent R, Verdu P, Laval G, Boland A, Olaso R, Deleuze JF, Valentin F, Ko YC, Jakobsson M, Gessain A, Excoffier L, Stoneking M, Patin E and Quintana-Murci L
A form of muscular dystrophy associated with pathogenic variants in JAG2
Coppens S, Barnard AM, Puusepp S, Pajasalu S, Ounap K, Vargas-Franco D, Bruels CC, Donkervoort S, Pais L, Chao KR, Goodrich JK, England EM, Weisburd B, Ganesh VS, Gudmundsson S, O'Donnell-Luria A, Nigul M, Ilves P, Mohassel P, Siddique T, Milone M, Nicolau S, Maroofian R, Houlden H, Hanna MG, Quinlivan R, Beiraghi Toosi M, Ghayoor Karimiani E, Costagliola S, Deconinck N, Kadhim H, Macke E, Lanpher BC, Klee EW, Lusakowska A, Kostera-Pruszczyk A, Hahn A, Schrank B, Nishino I, Ogasawara M, El Sherif R, Stojkovic T, Nelson I, Bonne G, Cohen E, Boland-Auge A, Deleuze JF, Meng Y, Topf A, Vilain C, Pacak CA, Rivera-Zengotita ML, Bonnemann CG, Straub V, Handford PA, Draper I, Walter GA and Kang PB
Hypersociability associated with developmental delay, macrocephaly and facial dysmorphism points to CHD3 mutations
Coursimault J, Lecoquierre F, Saugier-Veber P, Drouin-Garraud V, Lechevallier J, Boland A, Deleuze JF, Frebourg T, Nicolas G and Brehin AC
The lncRNA 44s2 Study Applicability to the Design of 45-55 Exon Skipping Therapeutic Strategy for DMD
Gargaun E, Falcone S, Sole G, Durigneux J, Urtizberea A, Cuisset JM, Benkhelifa-Ziyyat S, Julien L, Boland A, Sandron F, Meyer V, Deleuze JF, Salgado D, Desvignes JP, Beroud C, Chessel A, Blesius A, Krahn M, Levy N, Leturcq F and Pietri-Rouxel F
Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23
Garnier S, Harakalova M, Weiss S, Mokry M, Regitz-Zagrosek V, Hengstenberg C, Cappola TP, Isnard R, Arbustini E, Cook SA, van Setten J, Calis JJA, Hakonarson H, Morley MP, Stark K, Prasad SK, Li J, O'Regan DP, Grasso M, Muller-Nurasyid M, Meitinger T, Empana JP, Strauch K, Waldenberger M, Marguiles KB, Seidman CE, Kararigas G, Meder B, Haas J, Boutouyrie P, Lacolley P, Jouven X, Erdmann J, Blankenberg S, Wichter T, Ruppert V, Tavazzi L, Dubourg O, Roizes G, Dorent R, de Groote P, Fauchier L, Trochu JN, Aupetit JF, Bilinska ZT, Germain M, Volker U, Hemerich D, Raji I, Bacq-Daian D, Proust C, Remior P, Gomez-Bueno M, Lehnert K, Maas R, Olaso R, Saripella GV, Felix SB, McGinn S, Duboscq-Bidot L, van Mil A, Besse C, Fontaine V, Blanche H, Ader F, Keating B, Curjol A, Boland A, Komajda M, Cambien F, Deleuze JF, Dorr M, Asselbergs FW, Villard E, Tregouet DA and Charron P
Association between ABO haplotypes and the risk of venous thrombosis: impact on disease risk estimation
Goumidi L, Thibord F, Wiggins KL, Li-Gao R, Brown MR, van Hylckama Vlieg A, Souto JC, Soria JM, Ibrahim-Kosta M, Saut N, Daian D, Olaso R, Amouyel P, Debette S, Boland A, Bailly P, Morrison AC, Mook-Kanamori DO, Deleuze JF, Johnson A, de Vries PS, Sabater-Lleal M, Chiaroni J, Smith NL, Rosendaal FR, Chasman DI, Tregouet DA and Morange PE
Whole exome sequencing, a hypothesis-free approach to investigate recurrent early miscarriage
Gourhant L, Bocher O, De Saint Martin L, Ludwig TE, Boland A, Deleuze JF, Merviel P, Dupre PF, Lemarie CA, Couturaud F, Le Marechal C, Genin E and Pasquier E
Fine-mapping of two differentiated thyroid carcinoma susceptibility loci at 2q35 and 8p12 in Europeans, Melanesians and Polynesians
Guibon J, Sugier PE, Kulkarni O, Karimi M, Bacq-Daian D, Besse C, Boland A, Adjadj E, Rachedi F, Rubino C, Xhaard C, Mulot C, Laurent-Puig P, Guizard AV, Schvartz C, Ortiz RM, Ren Y, Ostroumova E, Deleuze JF, Boutron-Ruault MC, Kesminiene A, Vathaire F, Guenel P, Lesueur F and Truong T
INPP5K and SIL1 associated pathologies with overlapping clinical phenotypes converge through dysregulation of PHGDH
Hathazi D, Cox D, D'Amico A, Tasca G, Charlton R, Carlier RY, Baumann J, Kollipara L, Zahedi RP, Feldmann I, Deleuze JF, Torella A, Cohn R, Robinson E, Ricci F, Jungbluth H, Fattori F, Boland A, O'Connor E, Horvath R, Barresi R, Lochmuller H, Urtizberea A, Jacquemont ML, Nelson I, Swan L, Bonne G and Roos A
Evaluation of saliva as a source of accurate whole-genome and microbiome sequencing data
Herzig AF, Velo-Suarez L, Le Folgoc G, Boland A, Blanche H, Olaso R, Le Roux L, Delmas C, Goldberg M, Zins M, Lethimonnier F, Deleuze JF and Genin E
The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma
Hubert JN, Suybeng V, Vallee M, Delhomme TM, Maubec E, Boland A, Bacq D, Deleuze JF, Jouenne F, Brennan P, McKay JD, Avril MF, Bressac-de Paillerets B and Chanudet E
Gene network and biological pathways associated with susceptibility to differentiated thyroid carcinoma
Kulkarni O, Sugier PE, Guibon J, Boland-Auge A, Lonjou C, Bacq-Daian D, Olaso R, Rubino C, Souchard V, Rachedi F, Lence-Anta JJ, Ortiz RM, Xhaard C, Laurent-Puig P, Mulot C, Guizard AV, Schvartz C, Boutron-Ruault MC, Ostroumova E, Kesminiene A, Deleuze JF, Guenel P, De Vathaire F, Truong T and Lesueur F
Sexual Dimorphism in Cancer: Insights from Transcriptional Signatures in Kidney Tissue and Renal Cell Carcinoma
Laskar RS, Li P, Ecsedi S, Abedi-Ardekani B, Durand G, Robinot N, Hubert JN, Janout V, Zaridze D, Mukeria A, Mates D, Holcatova I, Foretova L, Swiatkowska B, Dzamic Z, Milosavljevic S, Olaso R, Boland A, Deleuze JF, Muller DC, McKay JD, Brennan P, Le Calvez-Kelm F, Scelo G and Chanudet E
Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation
Quenez O, Cassinari K, Coutant S, Lecoquierre F, Le Guennec K, Rousseau S, Richard AC, Vasseur S, Bouvignies E, Bou J, Lienard G, Manase S, Fourneaux S, Drouot N, Nguyen-Viet V, Vezain M, Chambon P, Joly-Helas G, Le Meur N, Castelain M, Boland A, Deleuze JF, Tournier I, Charbonnier F, Kasper E, Bougeard G, Frebourg T, Saugier-Veber P, Baert-Desurmont S, Campion D, Rovelet-Lecrux A and Nicolas G
Multiethnic genome-wide association study of differentiated thyroid cancer in the EPITHYR consortium
Truong T, Lesueur F, Sugier PE, Guibon J, Xhaard C, Karimi M, Kulkarni O, Lucotte EA, Bacq-Daian D, Boland-Auge A, Mulot C, Laurent-Puig P, Schvartz C, Guizard AV, Ren Y, Adjadj E, Rachedi F, Borson-Chazot F, Ortiz RM, Lence-Anta JJ, Pereda CM, Comiskey DF, Jr., He H, Liyanarachchi S, de la Chapelle A, Elisei R, Gemignani F, Thomsen H, Forsti A, Herzig AF, Leutenegger AL, Rubino C, Ostroumova E, Kesminiene A, Boutron-Ruault MC, Deleuze JF, Guenel P and de Vathaire F
Role of DNA repair variants and diagnostic radiology exams in differentiated thyroid cancer risk: a pooled-analysis of two case-control studies
Zidane M, Truong T, Lesueur F, Xhaard C, Cordina-Duverger E, Boland A, Blanche H, Ory C, Chevillard S, Deleuze JF, Souchard V, Ren Y, Zemmache MZ, Canale S, Borson-Chazot F, Schvartz C, Marine Barjoan E, Guizard AV, Laurent-Puig P, Mulot C, Guibon J, Karimi M, Schlumberger M, Adjadj E, Rubino C, Guenel P, Cazier JB and de Vathaire F
Feasibility of high-throughput sequencing in clinical routine cancer care: lessons from the cancer pilot project of the France Genomic Medicine 2025 plan
Auzanneau C, Bacq D, Bellera C, Blons H, Boland A, Boucheix M, Bourdon A, Chollet E, Chomienne C, Deleuze JF, Delmas C, Dinart D, Esperou H, Geillon F, Geneste D, Italiano A, Jean D, Khalifa E, Laizet Y, Laurent-Puig P, Lethimonnier F, Levy-Marchal C, Lucchesi C, Malle C, Mancini P, Mathoulin-Pelissier S, Meyer V, Palomares M-A, Perkins G, Sellan-Albert S, Soubeyran I and Wallet C
Haploinsufficiency of the Primary Familial Brain Calcification Gene SLC20A2 Mediated by Disruption of a Regulatory Element
Cassinari K, Rovelet-Lecrux A, Tury S, Quenez O, Richard AC, Charbonnier C, Olaso R, Boland A, Deleuze JF, Besancenot JF, Delpont B, Pouliquen D, Lecoquierre F, Chambon P, Thauvin-Robinet C, Campion D, Frebourg T, Battini JL and Nicolas G
Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability
Chevarin M, Duffourd Y, R AB, Moutton S, Lecoquierre F, Daoud F, Kuentz P, Cabret C, Thevenon J, Gautier E, Callier P, St-Onge J, Jouan T, Lacombe D, Delrue MA, Goizet C, Morice-Picard F, Van-Gils J, Munnich A, Lyonnet S, Cormier-Daire V, Baujat G, Holder M, Petit F, Leheup B, Odent S, Jouk PS, Lopez G, Genevieve D, Collignon P, Martin-Coignard D, Jacquette A, Perrin L, Putoux A, Sarrazin E, Amarof K, Missotte I, Coubes C, Jagadeesh S, Lapi E, Demurger F, Goldenberg A, Doco-Fenzy M, Mignot C, Heron D, Jean-Marcais N, Masurel A, El Chehadeh S, Marle N, Huet F, Binquet C, Collod-Beroud G, Arnaud P, Hanna N, Boileau C, Jondeau G, Olaso R, Lechner D, Poe C, Assoum M, Carmignac V, Duplomb L, Tran Mau-Them F, Philippe C, Vitobello A, Bruel AL, Boland A, Deleuze JF, Thauvin-Robinet C, Riviere JB, O'Roak BJ and Faivre L
Association of a single nucleotide polymorphism in the ubxn6 gene with long-term non-progression phenotype in HIV-positive individuals
Diez-Fuertes F, De La Torre-Tarazona HE, Calonge E, Pernas M, Bermejo M, Garcia-Perez J, Alvarez A, Capa L, Garcia-Garcia F, Saumoy M, Riera M, Boland-Auge A, Lopez-Galindez C, Lathrop M, Dopazo J, Sakuntabhai A and Alcami J
Genotyping on blood and buccal cells using loop-mediated isothermal amplification in healthy humans
Drogou C, Sauvet F, Erblang M, Detemmerman L, Derbois C, Erkel MC, Boland A, Deleuze JF, Gomez-Merino D and Chennaoui M
Phenotype and genotype characterization as predictors of DMD 45 to 55 multi-exon skipping therapy
Gargaun E, Bassez G, Wahbi K, Ben Yaou R, Guibaud M, Sole G, Tiffreau V, Laforet P, Parent M, Husson M, Urtizberea A, Eymard B, Boland A, Deleuze J, Salgado D, Khran M, Levy N, Blesius A, Leturcq F and Pietri-Rouxel F
Neuromuscular Disorders 30 (), S81-S81, 2020
Blood eosinophil count and airway epithelial transcriptome relationships in COPD versus asthma
George L, Taylor AR, Esteve-Codina A, Soler Artigas M, Thun GA, Bates S, Pavlidis S, Wagers S, Boland A, Prasse A, Boschetto P, Parr DG, Nowinski A, Barta I, Hohlfeld J, Greulich T, van den Berge M, Hiemstra PS, Timens W, Hinks T, Wenzel S, Siddiqui S, Richardson M, Venge P, Heath S, Gut I, Tobin MD, Edwards L, Riley JH, Djukanovic R, Auffray C, De-Meulder B, Erik-Dahlen S, Adcock IM, Chung KF, Ziegler-Heitbrock L, Sterk PJ, Singh D and Brightling CE
Family-based genome-wide association study of leprosy in Vietnam
Gzara C, Dallmann-Sauer M, Orlovam M, Thuc NV, Thai VH, Fava VM, Bihoreau MT, Boland A, Abel L, Alcais A, Schurr E and Cobat A
Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use
Husson T, Lecoquierre F, Cassinari K, Charbonnier C, Quenez O, Goldenberg A, Guerrot AM, Richard AC, Drouin-Garraud V, Brehin AC, Soleimani M, Taton R, Rotharmel M, Rosier A, Chambon P, Le Meur N, Joly-Helas G, Saugier-Veber P, Boland A, Deleuze JF, Olaso R, Frebourg T, Nicolas G, Guillin O and Campion D
PLCG2 protective variant p.P522R modulates tau pathology and disease progression in patients with mild cognitive impairment
Kleineidam L, Chouraki V, Prochnicki T, van der Lee SJ, Madrid-Marquez L, Wagner-Thelen H, Karaca I, Weinhold L, Wolfsgruber S, Boland A, Martino Adami PV, Lewczuk P, Popp J, Brosseron F, Jansen IE, Hulsman M, Kornhuber J, Peters O, Berr C, Heun R, Frolich L, Tzourio C, Dartigues JF, Hull M, Espinosa A, Hernandez I, de Rojas I, Orellana A, Valero S, Stringa N, van Schoor NM, Huisman M, Scheltens P, Ruther E, Deleuze JF, Wiltfang J, Tarraga L, Schmid M, Scherer M, Riedel-Heller S, Heneka MT, Amouyel P, Jessen F, Boada M, Maier W, Schneider A, Gonzalez-Perez A, van der Flier WM, Wagner M, Lambert JC, Holstege H, Saez ME, Latz E, Ruiz A and Ramirez A
Proteasome subunit PSMC3 variants cause neurosensory syndrome combining deafness and cataract due to proteotoxic stress
Kroll-Hermi A, Ebstein F, Stoetzel C, Geoffroy V, Schaefer E, Scheidecker S, Bar S, Takamiya M, Kawakami K, Zieba BA, Studer F, Pelletier V, 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, Kruger E, Muller J, Strahle U and Dollfus H
A novel rare c.-39C > T mutation in the PROS1 5 ' UTR causing PS deficiency by creating a new upstream translation initiation codone
Labrouche-Colomer S, Soukarieh O, Proust C, Mouton C, Huguenin Y, Roux M, Besse C, Boland A, Olaso R, Constans J, Deleuze JF, Morange PE, Jaspard-Vinassa B, Tregouet DA and GenMed C
Prediction of Breast Cancer Treatment-Induced Fatigue by Machine Learning Using Genome-Wide Association Data
Lee S, Deasy JO, Oh JH, Di Meglio A, Dumas A, Menvielle G, Charles C, Boyault S, Rousseau M, Besse C, Thomas E, Boland A, Cottu P, Tredan O, Levy C, Martin AL, Everhard S, Ganz PA, Partridge AH, Michiels S, Deleuze JF, Andre F and Vaz-Luis I
Exome sequencing in 57 patients with self-limited focal epilepsies of childhood with typical or atypical presentations suggests novel candidate genes
Rudolf G, de Bellescize J, de Saint Martin A, Arzimanoglou A, Valenti Hirsch MP, Labalme A, Boulay C, Simonet T, Boland A, Deleuze JF, Nitschke P, Ollivier E, Sanlaville D, Hirsch E, Chelly J and Lesca G
POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4
Sanchez E, Laplace-Builhe B, Mau-Them FT, Richard E, Goldenberg A, Toler TL, Guignard T, Gatinois V, Vincent M, Blanchet C, Boland A, Bihoreau MT, Deleuze JF, Olaso R, Nephi W, Ludecke HJ, Verheij J, Moreau-Lenoir F, Denoyelle F, Riviere JB, Laplanche JL, Willing M, Captier G, Apparailly F, Wieczorek D, Collet C, Djouad F and Genevieve D
A new genetic locus for antipsychotic-induced weight gain: A genome-wide study of first-episode psychosis patients using amisulpride (from the OPTiMiSE cohort)
Ter Hark SE, Jamain S, Schijven D, Lin BD, Bakker MK, Boland-Auge A, Deleuze JF, Troudet R, Malhotra AK, Guloksuz S, Vinkers CH, Ebdrup BH, Kahn RS, Leboyer M and Luykx JJ
Gene expression and response prediction to amisulpride in the OPTiMiSE first episode psychoses
Troudet R, Ali WBH, Bacq-Daian D, Rossum IWV, Boland-Auge A, Battail C, Barau C, Rujescu D, McGuire P, Kahn RS, Deleuze JF, Leboyer M and Jamain S
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing
Uggenti C, Lepelley A, Depp M, Badrock AP, Rodero MP, El-Daher MT, Rice GI, Dhir S, Wheeler AP, Dhir A, Albawardi W, Fremond ML, Seabra L, Doig J, Blair N, Martin-Niclos MJ, Della Mina E, Rubio-Roldan A, Garcia-Perez JL, Sproul D, Rehwinkel J, Hertzog J, Boland-Auge A, Olaso R, Deleuze JF, Baruteau J, Brochard K, Buckley J, Cavallera V, Cereda C, De Waele LMH, Dobbie A, Doummar D, Elmslie F, Koch-Hogrebe M, Kumar R, Lamb K, Livingston JH, Majumdar A, Lorenco CM, Orcesi S, Peudenier S, Rostasy K, Salmon CA, Scott C, Tonduti D, Touati G, Valente M, van der Linden H, Jr., Van Esch H, Vermelle M, Webb K, Jackson AP, Reijns MAM, Gilbert N and Crow YJ
Genome sequencing in cytogenetics: Comparison of short-read and linked-read approaches for germline structural variant detection and characterization
Uguen K, Jubin C, Duffourd Y, Bardel C, Malan V, Dupont JM, El Khattabi L, Chatron N, Vitobello A, Rollat-Farnier PA, Baulard C, Lelorch M, Leduc A, Tisserant E, Mau-Them FT, Danjean V, Delepine M, Till M, Meyer V, Lyonnet S, Mosca-Boidron AL, Thevenon J, Faivre L, Thauvin-Robinet C, Schluth-Bolard C, Boland A, Olaso R, Callier P, Romana S, Deleuze JF and Sanlaville D
Circadian genes polymorphisms, night work and prostate cancer risk: findings from the EPICAP study
Wendeu-Foyet MG, Cenee S, Koudou Y, Tretarre B, Rebillard X, Cancel-Tassin G, Cussenot O, Boland A, Olaso R, Deleuze JF, Blanche H, Lamy PJ, Mulot C, Laurent-Puig P, Truong T and Menegaux F
A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1
Ame van der Beek N, Nelson I, Froissart R, Levade T, Garcia V, Lacene E, Boland A, Masson C, Romero NB, Stojkovic T, Bonne G and Behin A
Rare De Novo Missense Variants in RNA Helicase DDX6 Cause Intellectual Disability and Dysmorphic Features and Lead to P-Body Defects and RNA Dysregulation
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 Bechec A, Jepsen W, De Both M, Belnap N, Boland A, Piras IS, Deleuze JF, Szelinger S, Dollfus H, Chelly J, Muller J, Campbell A, Lal D, Rangasamy S, Mandel JL, Narayanan V, Huentelman M, Weil D and Piton A
Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures
Bohm J, Malfatti E, Oates E, Jones K, Brochier G, Boland A, Deleuze JF, Romero NB and Laporte J
Copy Number Variants in miR-138 as a Potential Risk Factor for Early-Onset Alzheimer's Disease
Boscher E, Husson T, Quenez O, Laquerriere A, Marguet F, Cassinari K, Wallon D, Martinaud O, Charbonnier C, Nicolas G, Deleuze JF, Boland A, Lathrop M, Frebourg T, Campion D, Hebert SS and Rovelet-Lecrux A
A Simple, Universal, and Cost-Efficient Digital PCR Method for the Targeted Analysis of Copy Number Variations
Cassinari K, Quenez O, Joly-Helas G, Beaussire L, Le Meur N, Castelain M, Goldenberg A, Guerrot AM, Brehin AC, Deleuze JF, Boland A, Rovelet-Lecrux A, Campion D, Saugier-Veber P, Gruchy N, Frebourg T, Nicolas G, Sarafan-Vasseur N and Chambon P
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
De Ridder W, Nelson I, Asselbergh B, De Paepe B, Beuvin M, Ben Yaou R, Masson C, Boland A, Deleuze JF, Maisonobe T, Eymard B, Symoens S, Schindler R, Brand T, Johnson K, Topf A, Straub V, De Jonghe P, De Bleecker JL, Bonne G and Baets J
The Impact of Genetic Variations in ADORA2A in the Association between Caffeine Consumption and Sleep
Erblang M, Drogou C, Gomez-Merino D, Metlaine A, Boland A, Deleuze JF, Thomas C, Sauvet F and Chennaoui M
Mitochondrial ncRNA targeting induces cell cycle arrest and tumor growth inhibition of MDA-MB-231 breast cancer cells through reduction of key cell cycle progression factors
Fitzpatrick C, Bendek MF, Briones M, Farfan N, Silva VA, Nardocci G, Montecino M, Boland A, Deleuze JF, Villegas J, Villota C, Silva V, Lobos-Gonzalez L, Borgna V, Barrey E, Burzio LO and Burzio VA
Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing
Girard E, Eon-Marchais S, Olaso R, Renault AL, Damiola F, Dondon MG, Barjhoux L, Goidin D, Meyer V, Le Gal D, Beauvallet J, Mebirouk N, Lonjou C, Coignard J, Marcou M, Cavaciuti E, Baulard C, Bihoreau MT, Cohen-Haguenauer O, Leroux D, Penet C, Fert-Ferrer S, Colas C, Frebourg T, Eisinger F, Adenis C, Fajac A, Gladieff L, Tinat J, Floquet A, Chiesa J, Giraud S, Mortemousque I, Soubrier F, Audebert-Bellanger S, Limacher JM, Lasset C, Lejeune-Dumoulin S, Dreyfus H, Bignon YJ, Longy M, Pujol P, Venat-Bouvet L, Bonadona V, Berthet P, Luporsi E, Maugard CM, Nogues C, Delnatte C, Fricker JP, Gesta P, Faivre L, Lortholary A, Buecher B, Caron O, Gauthier-Villars M, Coupier I, Servant N, Boland A, Mazoyer S, Deleuze JF, Stoppa-Lyonnet D, Andrieu N and Lesueur F
Altered spinogenesis in iPSC-derived cortical neurons from patients with autism carrying de novo SHANK3 mutations
Gouder L, Vitrac A, Goubran-Botros H, Danckaert A, Tinevez JY, Andre-Leroux G, Atanasova E, Lemiere N, Biton A, Leblond CS, Poulet A, Boland A, Deleuze JF, Benchoua A, Delorme R, Bourgeron T and Cloez-Tayarani I
Biallelic MYORG mutation carriers exhibit primary brain calcification with a distinct phenotype
Grangeon L, Wallon D, Charbonnier C, Quenez O, Richard AC, Rousseau S, Budowski C, Lebouvier T, Corbille AG, Vidailhet M, Meneret A, Roze E, Anheim M, Tranchant C, Favrole P, Antoine JC, Defebvre L, Ayrignac X, Labauge P, Pariente J, Clanet M, Maltete D, Rovelet-Lecrux A, Boland A, Deleuze JF, Frebourg T, Hannequin D, Campion D and Nicolas G
LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters
Imbert-Bouteille M, Them FTM, Thevenon J, Guignard T, Gatinois V, Riviere JB, Boland A, Meyer V, Deleuze JF, Sanchez E, Apparailly F, Genevieve D and Willems M
The influence of obesity-related factors in the etiology of renal cell carcinoma-A mendelian randomization study
Johansson M, Carreras-Torres R, Scelo G, Purdue MP, Mariosa D, Muller DC, Timpson NJ, Haycock PC, Brown KM, Wang Z, Ye Y, Hofmann JN, Foll M, Gaborieau V, Machiela MJ, Colli LM, Li P, Garnier JG, Blanche H, Boland A, Burdette L, Prokhortchouk E, Skryabin KG, Yeager M, Radojevic-Skodric S, Ognjanovic S, Foretova L, Holcatova I, Janout V, Mates D, Mukeriya A, Rascu S, Zaridze D, Bencko V, Cybulski C, Fabianova E, Jinga V, Lissowska J, Lubinski J, Navratilova M, Rudnai P, Benhamou S, Cancel-Tassin G, Cussenot O, Weiderpass E, Ljungberg B, Tumkur Sitaram R, Haggstrom C, Bruinsma F, Jordan SJ, Severi G, Winship I, Hveem K, Vatten LJ, Fletcher T, Larsson SC, Wolk A, Banks RE, Selby PJ, Easton DF, Andreotti G, Beane Freeman LE, Koutros S, Mannisto S, Weinstein S, Clark PE, Edwards TL, Lipworth L, Gapstur SM, Stevens VL, Carol H, Freedman ML, Pomerantz MM, Cho E, Wilson KM, Gaziano JM, Sesso HD, Freedman ND, Parker AS, Eckel-Passow JE, Huang WY, Kahnoski RJ, Lane BR, Noyes SL, Petillo D, Teh BT, Peters U, White E, Anderson GL, Johnson L, Luo J, Buring J, Lee IM, Chow WH, Moore LE, Eisen T, Henrion M, Larkin J, Barman P, Leibovich BC, Choueiri TK, Lathrop GM, Deleuze JF, Gunter M, McKay JD, Wu X, Houlston RS, Chanock SJ, Relton C, Richards JB, Martin RM, Davey Smith G and Brennan P
Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates A beta, tau, immunity and lipid processing
Kunkle BW, Grenier-Boley B, Sims R, Bis JC, Damotte V, Naj AC, Boland A, Vronskaya M, van der Lee SJ, Amlie-Wolf A, Bellenguez C, Frizatti A, Chouraki V, Martin ER, Sleegers K, Badarinarayan N, Jakobsdottir J, Hamilton-Nelson KL, Moreno-Grau S, Olaso R, Raybould R, Chen YN, Kuzma AB, Hiltunen M, Morgan T, Ahmad S, Vardarajan BN, Epelbaum J, Hoffmann P, Boada M, Beecham GW, Garnier JG, Harold D, Fitzpatrick AL, Valladares O, Moutet ML, Gerrish A, Smith AV, Qu LM, Bacq D, Denning N, Jian XQ, Zhao Y, Del Zompo M, Fox NC, Choi SH, Mateo I, Hughes JT, Adams HH, Malamon J, Sanchez-Garcia F, Patel Y, Brody JA, Dombroski BA, Naranjo MCD, Daniilidou M, Eiriksdottir G, Mukherjee S, Wallon D, Uphill J, Aspelund T, Cantwell LB, Garzia F, Galimberti D, Hofer E, Butkiewicz M, Fin B, Scarpini E, Sarnowski C, Bush WS, Meslage S, Kornhuber J, White CC, Song Y, Barber RC, Engelborghs S, Sordon S, Voijnovic D, Adams PM, Vandenberghe R, Mayhaus M, Cupples LA, Albert MS, De Deyn PP, Gu W, Himali JJ, Beekly D, Squassina A, Hartmann AM, Orellana A, Blacker D, Rodriguez-Rodriguez E, Lovestone S, Garcia ME, Doody RS, Munoz-Fernadez C, Sussams R, Lin HH, Fairchild TJ, Benito YA, Holmes C, Karamujic-Comic H, Frosch MP, Thonberg H, Maier W, Roschupkin G, Ghetti B, Giedraitis V, Kawalia A, Li S, Huebinger RM, Kilander L, Moebus S, Hernandez I, Kamboh MI, Brundin R, Turton J, Yang Q, Katz MJ, Concari L, Lord J, Beiser AS, Keene CD, Helisalmi S, Kloszewska I, Kukull WA, Koivisto AM, Lynch A, Tarraga L, Larson EB, Haapasalo A, Lawlor B, Mosley TH, Lipton RB, Solfrizzi V, Gill M, Longstreth WT, Montine TJ, Frisardi V, Diez-Fairen M, Rivadeneira F, Petersen RC, Deramecourt V, Alvarez I, Salani F, Ciaramella A, Boerwinkle E, Reiman EM, Fievet N, Rotter JI, Reisch JS, Hanon O, Cupidi C, Uitterlinden AGA, Royall DR, Dufouil C, Maletta RG, de Rojas I, Sano M, Brice A, Cecchetti R, St George-Hyslop P, Ritchie K, Tsolaki M, Tsuang DW, Dubois B, Craig D, Wu CK, Soininen H, Avramidou D, Albin RL, Fratiglioni L, Germanou A, Apostolova LG, Keller L, Koutroumani M, Arnold SE, Panza F, Gkatzima O, Asthana S, Hannequin D, Whitehead P, Atwood CS, Caffarra P, Hampel H, Quintela I, Carracedo A, Lannfelt L, Rubinsztein DC, Barnes LL, Pasquier F, Frolich L, Barral S, McGuinness B, Beach TG, Johnston JA, Becker JT, Passmore P, Bigio EH, Schott JM, Bird TD, Warren JD, Boeve BF, Lupton MK, Bowen JD, Proitsi P, Boxer A, Powell JF, Burke JR, Kauwe JSK, Burns JM, Mancuso M, Buxbaum JD, Bonuccelli U, Cairns NJ, McQuillin A, Cao CH, Livingston G, Carlson CS, Bass NJ, Carlsson CM, Hardy J, Carney RM, Bras J, Carrasquillo MM, Guerreiro R, Allen M, Chui HC, Fisher E, Masullo C, Crocco EA, DeCarli C, Bisceglio G, Dick M, Ma L, Duara R, Graff-Radford NR, Evans DA, Hodges A, Faber KM, Scherer M, Fallon KB, Riemenschneider M, Fardo DW, Heun R, Farlow MR, Kolsch H, Ferris S, Leber M, Foroud TM, Heuser I, Galasko DR, Giegling I, Gearing M, Hull M, Geschwind DH, Gilbert JR, Morris J, Green RC, Mayo K, Growdon JH, Feulner T, Hamilton RL, Harrell LE, Drichel D, Honig LS, Cushion TD, Huentelman MJ, Hollingworth P, Hulette CM, Hyman BT, Marshall R, Jarvik GP, Meggy A, Abner E, Menzies GE, Jin LW, Leonenko G, Real LM, Jun GR, Baldwin CT, Grozeva D, Karydas A, Russo G, Kaye JA, Kim R, Jessen F, Kowall NW, Vellas B, Kramer JH, Vardy E, LaFerla FM, Jockel KH, Lah JJ, Dichgans M, Leverenz JB, Mann D, Levey AI, Pickering-Brown S, Lieberman AP, Klopp N, Lunetta KL, Wichmann HE, Lyketsos CG, Morgan K, Marson DC, Brown K, Martiniuk F, Medway C, Mash DC, Nothen MM, Masliah E, Hooper NM, McCormick WC, Daniele A, McCurry SM, Bayer A, McDavid AN, Gallacher J, McKee AC, van den Bussche H, Mesulam M, Brayne C, Miller BL, Riedel-Heller S, Miller CA, Miller JW, Al-Chalabi A, Morris JC, Shaw CE, Myers AJ, Wiltfang J, O'Bryant S, Olichney JM, Alvarez V, Parisi JE, Singleton AB, Paulson HL, Collinge J, Perry WR, Mead S, Peskind E, Cribbs DH, Rossor M, Pierce A, Ryan NS, Poon WW, Nacmias B, Potter H, Sorbi S, Quinn JF, Sacchinelli E, Raj A, Spalletta G, Raskind M, Caltagirone C, Bossu P, Orfei MD, Reisberg B, Clarke R, Reitz C, Smith AD, Ringman JM, Warden D, Roberson ED, Wilcock G, Rogaeva E, Bruni AC, Rosen HJ, Gallo M, Rosenberg RN, Ben-Shlomo Y, Sager MA, Mecocci P, Saykin AJ, Pastor P, Cuccaro ML, Vance JM, Schneider JA, Schneider LS, Slifer S, Seeley WW, Smith AG, Sonnen JA, Spina S, Stern RA, Swerdlow RH, Tang M, Tanzi RE, Trojanowski JQ, Troncoso JC, Van Deerlin VM, Van Eldik LJ, Vinters HV, Vonsattel JP, Weintraub S, Welsh-Bohmer KA, Wilhelmsen KC, Williamson J, Wingo TS, Woltjer RL, Wright CB, Yu CE, Yu L, Saba Y, Pilotto A, Bullido MJ, Peters O, Crane PK, Bennett D, Bosco P, Coto E, Boccardi V, De Jager PL, Lleo A, Warner N, Lopez OL, Ingelsson M, Deloukas P, Cruchaga C, Graff C, Gwilliam R, Fornage M, Goate AM, Sanchez-Juan P, Kehoe PG, Amin N, Ertekin-Taner N, Berr C, Debette S, Love S, Launer LJ, Younkin SG, Dartigues JF, Corcoran C, Ikram MA, Dickson DW, Nicolas G, Campion D, Tschanz J, Schmidt H, Hakonarson H, Clarimon J, Munger R, Schmidt R, Farrer LA, Van Broeckhoven C, O'Donovan MC, DeStefano AL, Jones L, Haines JL, Deleuze JF, Owen MJ, Gudnason V, Mayeux R, Escott-Price V, Psaty BM, Ramirez A, Wang LS, Ruiz A, van Duijn CM, Holmans PA, Seshadri S, Williams J, Amouyel P, Schellenberg GD, Lambert JC, Pericak-Vance MA, Alzheimer Dis Genetics C, European Alzheimers Dis I, Cohorts Heart Aging Res Genomic E and Genetic Environm Risk ADD
Causative Mutations and Genetic Risk Factors in Sporadic Early Onset Alzheimer's Disease Before 51 Years
Lacour M, Quenez O, Rovelet-Lecrux A, Salomon B, Rousseau S, Richard AC, Quillard-Muraine M, Pasquier F, Rollin-Sillaire A, Martinaud O, Zarea A, de la Sayette V, Boutoleau-Bretonniere C, Etcharry-Bouyx F, Chauvire V, Sarazin M, le Ber I, Epelbaum S, Jonveaux T, Rouaud O, Ceccaldi M, Godefroy O, Formaglio M, Croisile B, Auriacombe S, Magnin E, Sauvee M, Marelli C, Gabelle A, Pariente J, Paquet C, Boland A, Deleuze JF, Campion D, Hannequin D, Nicolas G and Wallon D
Journal of Alzheimers Disease 71 (1), 227-243, 2019
Sex specific associations in genome wide association analysis of renal cell carcinoma
Laskar RS, Muller DC, Li P, Machiela MJ, Ye Y, Gaborieau V, Foll M, Hofmann JN, Colli L, Sampson JN, Wang Z, Bacq-Daian D, Boland A, Abedi-Ardekani B, Durand G, Le Calvez-Kelm F, Robinot N, Blanche H, Prokhortchouk E, Skryabin KG, Burdett L, Yeager M, Radojevic-Skodric S, Savic S, Foretova L, Holcatova I, Janout V, Mates D, Rascu S, Mukeria A, Zaridze D, Bencko V, Cybulski C, Fabianova E, Jinga V, Lissowska J, Lubinski J, Navratilova M, Rudnai P, Swiatkowska B, Benhamou S, Cancel-Tassin G, Cussenot O, Trichopoulou A, Riboli E, Overvad K, Panico S, Ljungberg B, Sitaram RT, Giles GG, Milne RL, Severi G, Bruinsma F, Fletcher T, Koppova K, Larsson SC, Wolk A, Banks RE, Selby PJ, Easton DF, Pharoah P, Andreotti G, Beane Freeman LE, Koutros S, Albanes D, Mannisto S, Weinstein S, Clark PE, Edwards TL, Lipworth L, Carol H, Freedman ML, Pomerantz MM, Cho E, Kraft P, Preston MA, Wilson KM, Michael Gaziano J, Sesso HD, Black A, Freedman ND, Huang WY, Anema JG, Kahnoski RJ, Lane BR, Noyes SL, Petillo D, Teh BT, Peters U, White E, Anderson GL, Johnson L, Luo J, Chow WH, Moore LE, Choueiri TK, Wood C, Johansson M, McKay JD, Brown KM, Rothman N, Lathrop MG, Deleuze JF, Wu X, Brennan P, Chanock SJ, Purdue MP and Scelo G
Both rare and common genetic variants contribute to autism in the Faroe Islands
Leblond CS, Cliquet F, Carton C, Huguet G, Mathieu A, Kergrohen T, Buratti J, Lemiere N, Cuisset L, Bienvenu T, Boland A, Deleuze JF, Stora T, Biskupstoe R, Halling J, Andorsdottir G, Billstedt E, Gillberg C and Bourgeron T
Confirmation and further delineation of the SMG9-deficiency syndrome, a rare and severe developmental disorder
Lecoquierre F, Bonnevalle A, Chadie A, Gayet C, Dumant-Forest C, Renaux-Petel M, Leca JB, Hazelzet T, Brasseur-Daudruy M, Louillet F, Muraine M, Coutant S, Quenez O, Boland A, Deleuze JF, Frebourg T, Goldenberg A, Saugier-Veber P, Guerrot AM and Nicolas G
Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group
Lemattre C, Imbert-Bouteille M, Gatinois V, Benit P, Sanchez E, Guignard T, Tran Mau-Them F, Haquet E, Rivier F, Carme E, Roubertie A, Boland A, Lechner D, Meyer V, Thevenon J, Duffourd Y, Riviere JB, Deleuze JF, Wells C, Molinari F, Rustin P, Blanchet P and Genevieve D
First genome-wide association study of non-severe malaria in two birth cohorts in Benin
Milet J, Boland A, Luisi P, Sabbagh A, Sadissou I, Sonon P, Domingo N, Palstra F, Gineau L, Courtin D, Massougbodji A, Garcia A, Deleuze JF and Perdry H
Detection of copy number variations from NGS data using read depth information: a diagnostic performance evaluation
Quenez O, Cassinari K, Coutant S, Lecoquierre F, Le Guennec K, Rousseau S, Richard A, Vasseur S, Bouvignies E, Bou J, Lienard G, Manase S, Fourneaux S, Vezain M, Chambon P, Joly-Helas G, Le Meur N, Castelain M, Boland A, Deleuze J, Frex C, Kasper E, Frebourg T, Saugier-Veber P, Baert-Desurmont S, Campion D, Rovelet-Lecrux A and Nicolas G
High degree of polyclonality hinders somatic mutation calling in lung brush samples of COPD cases and controls
Thun GA, Derdak S, Castro-Giner F, Apunte-Ramos K, Agueda L, Wjst M, Boland A, Deleuze JF, Kolsum U, Heiss-Neumann MS, Nowinski A, Gorecka D, Hohlfeld JM, Welte T, Brightling CE, Parr DG, Prasse A, Muller-Quernheim J, Greulich T, Stendardo M, Boschetto P, Barta I, Dome B, Gut M, Singh D, Ziegler-Heitbrock L and Gut IG
Mutations in the Heterotopia Gene Eml1/EML1 Severely Disrupt the Formation of Primary Cilia
Uzquiano A, Cifuentes-Diaz C, Jabali A, Romero DM, Houllier A, Dingli F, Maillard C, Boland A, Deleuze JF, Loew D, Mancini GMS, Bahi-Buisson N, Ladewig J and Francis F
A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1
van der Beek N, Nelson I, Froissart R, Levade T, Garcia V, Lacene E, Boland A, Masson C, Romero NB, Stojkovic T, Bonne G and Behin A
A novel nonsense variant in SUPT20H gene associated with Rheumatoid Arthritis identified by Whole Exome Sequencing of multiplex families
Veyssiere M, Perea J, Michou L, Boland A, Caloustian C, Olaso R, Deleuze JF, Cornelis F, Petit-Teixeira E and Chaudru V
Circadian genes and risk of prostate cancer: findings from the EPICAP study
Wendeu-Foyet MG, Koudou Y, Cenee S, Tretarre B, Rebillard X, Cancel-Tassin G, Cussenot O, Boland A, Bacq D, Deleuze JF, Lamy PJ, Mulot C, Laurent-Puig P, Truong T and Menegaux F
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
Zeitz C, Michiels C, Neuille M, Friedburg C, Condroyer C, Boyard F, Antonio A, Bouzidi N, Milicevic D, Veaux R, Tourville A, Zoumba A, Seneina I, Foussard M, Andrieu C, M NP, Blanchard S, Saraiva JP, Mesrob L, Le Floch E, Jubin C, Meyer V, Blanche H, Boland A, Deleuze JF, Sharon D, Drumare I, Defoort-Dhellemmes S, De Baere E, Leroy BP, Zanlonghi X, Casteels I, de Ravel TJ, Balikova I, R KK, Laffargue F, McLean R, Gottlob I, Bonneau D, Schorderet DF, F LM, McKibbin M, Prescott K, Pelletier V, Dollfus H, Perdomo-Trujillo Y, Faure C, Reiff C, Wissinger B, Meunier I, Kohl S, Banin E, Zrenner E, Jurklies B, Lorenz B, Sahel JA and Audo I
Genetic susceptibility to radiation-related differentiated thyroid cancers: a systematic review of literature
Zidane M, Cazier JB, Chevillard S, Ory C, Schlumberger M, Dupuy C, Deleuze JF, Boland A, Haddy N, Lesueur F and de Vathaire F
Analysis of shared heritability in common disorders of the brain
Anttila V, Bulik-Sullivan B, Finucane HK, Walters RK, Bras J, Duncan L, Escott-Price V, Falcone GJ, Gormley P, Malik R, Patsopoulos NA, Ripke S, Wei Z, Yu DM, Lee PH, Turley P, Grenier-Boley B, Chouraki V, Kamatani Y, Berr C, Letenneur L, Hannequin D, Amouyel P, Boland A, Deleuze JF, Duron E, Vardarajan BN, Reitz C, Goate AM, Huentelman MJ, Kamboh MI, Larson EB, Rogaeva E, St George-Hyslop P, Hakonarson H, Kukull WA, Farrer LA, Barnes LL, Beach TG, Demirci FY, Head E, Hulette CM, Jicha GA, Kauwe JSK, Kaye JA, Leverenz JB, Levey AI, Lieberman AP, Pankratz VS, Poon WW, Quinn JF, Saykin AJ, Schneider LS, Smith AG, Sonnen JA, Stern RA, Van Deerlin VM, Van Eldik LJ, Harold D, Russo G, Rubinsztein DC, Bayer A, Tsolaki M, Proitsi P, Fox NC, Hampel H, Owen MJ, Mead S, Passmore P, Morgan K, Nothen MM, Rossor M, Lupton MK, Hoffmann P, Kornhuber J, Lawlor B, McQuillin A, Al-Chalabi A, Bis JC, Ruiz A, Boada M, Seshadri S, Beiser A, Rice K, van der Lee SJ, De Jager PL, Geschwind DH, Riemenschneider M, Riedel-Heller S, Rotter JI, Ransmayr G, Hyman BT, Cruchaga C, Alegret M, Winsvold B, Palta P, Farh KH, Cuenca-Leon E, Furlotte N, Kurth T, Ligthart L, Terwindt GM, Freilinger T, Ran C, Gordon SD, Borck G, Adams HHH, Lehtimaki T, Wedenoja J, Buring JE, Schurks M, Hrafnsdottir M, Hottenga JJ, Penninx B, Artto V, Kaunisto M, Vepsalainen S, Martin NG, Montgomery GW, Kurki MI, Hamalainen E, Huang HL, Huang J, Sandor C, Webber C, Muller-Myhsok B, Schreiber S, Salomaa V, Loehrer E, Gobel H, Macaya A, Pozo-Rosich P, Hansen T, Werge T, Kaprio J, Metspalu A, Kubisch C, Ferrari MD, Belin AC, van den Maagdenberg A, Zwart JA, Boomsma D, Eriksson N, Olesen J, Chasman DI, Nyholt DR, Avbersek A, Baum L, Berkovic S, Bradfield J, Buono R, Catarino CB, Cossette P, De Jonghe P, Depondt C, Dlugos D, Ferraro TN, French J, Hjalgrim H, Jamnadas-Khoda J, Kalviainen R, Kunz WS, Lerche H, Leu C, Lindhout D, Lo W, Lowenstein D, McCormack M, Moller RS, Molloy A, Ng PW, Oliver K, Privitera M, Radtke R, Ruppert AK, Sander T, Schachter S, Schankin C, Scheffer I, Schoch S, Sisodiya SM, Smith P, Sperling M, Striano P, Surges R, Thomas GN, Visscher F, Whelan CD, Zara F, Heinzen EL, Marson A, Becker F, Stroink H, Zimprich F, Gasser T, Gibbs R, Heutink P, Martinez M, Morris HR, Sharma M, Ryten M, Mok KY, Pulit S, Bevan S, Holliday E, Attia J, Battey T, Boncoraglio G, Thijs V, Chen WM, Mitchell B, Rothwell P, Sharma P, Sudlow C, Vicente A, Markus H, Kourkoulis C, Pera J, Raffeld M, Silliman S, Perica VB, Thornton LM, Huckins LM, Rayner NW, Lewis CM, Gratacos M, Rybakowski F, Keski-Rahkonen A, Raevuori A, Hudson JI, Reichborn-Kjennerud T, Monteleone P, Karwautz A, Mannik K, Baker JH, O'Toole JK, Trace SE, Davis OSP, Helder SG, Ehrlich S, Herpertz-Dahlmann B, Danner UN, van Elburg AA, Clementi M, Forzan M, Docampo E, Lissowska J, Hauser J, Tortorella A, Maj M, Gonidakis F, Tziouvas K, Papezova H, Yilmaz Z, Wagner G, Cohen-Woods S, Herms S, Julia A, Rabionet R, Dick DM, Ripatti S, Andreassen OA, Espeseth T, Lundervold AJ, Steen VM, Pinto D, Scherer SW, Aschauer H, Schosser A, Alfredsson L, Padyukov L, Halmi KA, Mitchell J, Strober M, Bergen AW, Kaye W, Szatkiewicz JP, Cormand B, Ramos-Quiroga JA, Sanchez-Mora C, Ribases M, Casas M, Hervas A, Arranz MJ, Haavik J, Zayats T, Johansson S, Williams N, Dempfle A, Rothenberger A, Kuntsi J, Oades RD, Banaschewski T, Franke B, Buitelaar JK, Vasquez AA, Doyle AE, Reif A, Lesch KP, Freitag C, Rivero O, Palmason H, Romanos M, Langley K, Rietschel M, Witt SH, Dalsgaard S, Borglum AD, Waldman I, Wilmot B, Molly N, Bau CHD, Crosbie J, Schachar R, Loo SK, McGough JJ, Grevet EH, Medland SE, Robinson E, Weiss LA, Bacchelli E, Bailey A, Bal V, Battaglia A, Betancur C, Bolton P, Cantor R, Celestino-Soper P, Dawson G, Rubeis S, Duque F, Green A, Klauck SM, Leboyer M, Levitt P, Maestrini E, Mane S, Moreno-De-Luca D, Parr J, Regan R, Reichenberg A, Sandin S, Vorstman J, Wassink T, Wijsman E, Cook E, Santangelo S, Delorme R, Roge B, Magalhaes T, Arking D, Schulze TG, Thompson RC, Strohmaier J, Matthews K, Melle I, Morris D, Blackwood D, McIntosh A, Bergen SE, Schalling M, Jamain S, Maaser A, Fischer SB, Reinbold CS, Fullerton JM, Guzman-Parra J, Mayoral F, Schofield PR, Cichon S, Muhleisen TW, Degenhardt F, Schumacher J, Bauer M, Mitchell PB, Gershon ES, Rice J, Potash JB, Zandi PP, Craddock N, Ferrier IN, Alda M, Rouleau GA, Turecki G, Ophoff R, Pato C, Anjorin A, Stahl E, Leber M, Czerski PM, Cruceanu C, Jones IR, Posthuma D, Andlauer TFM, Forstner AJ, Streit F, Baune BT, Air T, Sinnamon G, Wray NR, MacIntyre DJ, Porteous D, Homuth G, Rivera M, Grove J, Middeldorp CM, Hickie I, Pergadia M, Mehta D, Smit JH, Jansen R, de Geus E, Dunn E, Li QQS, Nauck M, Schoevers RA, Beekman ATF, Knowles JA, Viktorin A, Arnold P, Barr CL, Bedoya-Berrio G, Bienvenu OJ, Brentani H, Burton C, Camarena B, Cappi C, Cath D, Cavallini M, Cusi D, Darrow S, Denys D, Derks EM, Dietrich A, Fernandez T, Figee M, Freimer N, Gerber G, Grados M, Greenberg E, Hanna GL, Hartmann A, Hirschtritt ME, Hoekstra PJ, Huang A, Huyser C, Illmann C, Jenike M, Kuperman S, Leventhal B, Lochner C, Lyon GJ, Macciardi F, Madruga-Garrido M, Malaty IA, Maras A, McGrath L, Miguel EC, Mir P, Nestadt G, Nicolini H, Okun MS, Pakstis A, Paschou P, Piacentini J, Pittenger C, Plessen K, Ramensky V, Ramos EM, Reus V, Richter MA, Riddle MA, Robertson MM, Roessner V, Rosario M, Samuels JF, Sandor P, Stein DJ, Tsetsos F, Van Nieuwerburgh F, Weatherall S, Wendland JR, Wolanczyk T, Worbe Y, Zai G, Goes FS, McLaughlin N, Nestadt PS, Grabe HJ, Depienne C, Konkashbaev A, Lanzagorta N, Valencia-Duarte A, Bramon E, Buccola N, Cahn W, Cairns M, Chong SA, Cohen D, Crespo-Facorro B, Crowley J, Davidson M, DeLisi L, Dinan T, Donohoe G, Drapeau E, Duan J, Haan L, Hougaard D, Karachanak-Yankova S, Khrunin A, Klovins J, Kucinskas V, Keong JLC, Limborska S, Loughland C, Lonnqvist J, Maher B, Mattheisen M, McDonald C, Murphy KC, Nenadic I, van Os J, Pantelis C, Pato M, Petryshen T, Quested D, Roussos P, Sanders AR, Schall U, Schwab SG, Sim K, So HC, Stogmann E, Subramaniam M, Toncheva D, Waddington J, Walters J, Weiser M, Cheng W, Cloninger R, Curtis D, Gejman PV, Henskens F, Mattingsdal M, Oh SY, Scott R, Webb B, Breen G, Churchhouse C, Bulik CM, Daly M, Dichgans M, Faraone SV, Guerreiro R, Holmans P, Kendler KS, Koeleman B, Mathews CA, Price A, Scharf J, Sklar P, Williams J, Wood NW, Cotsapas C, Palotie A, Smoller JW, Sullivan P, Rosand J, Corvin A, Neale BM and Brainstorm C
Association of modifiers and other genetic factors explain Marfan syndrome clinical variability
Aubart M, Gazal S, Arnaud P, Benarroch L, Gross MS, Buratti J, Boland A, Meyer V, Zouali H, Hanna N, Milleron O, Stheneur C, Bourgeron T, Desguerre I, Jacob MP, Gouya L, Genin E, Deleuze JF, Jondeau G and Boileau C
Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies
Avila-Polo R, Malfatti E, Lornage X, Cheraud C, Nelson I, Nectoux J, Bohm J, Schneider R, Hedberg-Oldfors C, Eymard B, Monges S, Lubieniecki F, Brochier G, Thao Bui M, Madelaine A, Labasse C, Beuvin M, Lacene E, Boland A, Deleuze JF, Thompson J, Richard I, Taratuto AL, Udd B, Leturcq F, Bonne G, Oldfors A, Laporte J and Romero NB
Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures
Bohm J, Malfatti E, Oates E, Jones K, Brochier G, Boland A, Deleuze JF, Romero NB and Laporte J
Performance comparison of three DNA extraction kits on human whole-exome data from formalin-fixed paraffin-embedded normal and tumor samples
Bonnet E, Moutet ML, Baulard C, Bacq-Daian D, Sandron F, Mesrob L, Fin B, Delepine M, Palomares MA, Jubin C, Blanche H, Meyer V, Boland A, Olaso R and Deleuze JF
The Comoros Show the Earliest Austronesian Gene Flow into the Swahili Corridor
Brucato N, Fernandes V, Mazieres S, Kusuma P, Cox MP, Ng'ang'a JW, Omar M, Simeone-Senelle MC, Frassati C, Alshamali F, Fin B, Boland A, Deleuze JF, Stoneking M, Adelaar A, Crowther A, Boivin N, Pereira L, Bailly P, Chiaroni J and Ricaut FX
Mutations in CFAP43 and CFAP44 cause male infertility and flagellum defects in Trypanosoma and human
Coutton C, Vargas AS, Amiri-Yekta A, Kherraf ZE, Ben Mustapha SF, Le Tanno P, Wambergue-Legrand C, Karaouzene T, Martinez G, Crouzy S, Daneshipour A, Hosseini SH, Mitchell V, Halouani L, Marrakchi O, Makni M, Latrous H, Kharouf M, Deleuze JF, Boland A, Hennebicq S, Satre V, Jouk PS, Thierry-Mieg N, Conne B, Dacheux D, Landrein N, Schmitt A, Stouvenel L, Lores P, El Khouri E, Bottari SP, Faure J, Wolf JP, Pernet-Gallay K, Escoffier J, Gourabi H, Robinson DR, Nef S, Dulioust E, Zouari R, Bonhivers M, Toure A, Arnoult C and Ray PF
Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement
Dabaj I, Carlier RY, Gomez-Andres D, Abath Neto O, Bertini E, D'Amico A, Fattori F, Pereon Y, Castiglioni C, Rodillo E, Catteruccia M, Guimaraes JB, Oliveira ASB, Reed UC, Mesrob L, Lechner D, Boland A, Deleuze JF, Malfatti E, Bonnemann C, Laporte J, Romero N, Felter A, Quijano-Roy S, Moreno CAM and Zanoteli E
QuantumClone: Clonal assessment of functional mutations in cancer based on a genotype-aware method for clonal reconstruction
Deveau P, Colmet Daage L, Oldridge D, Bernard V, Bellini A, Chicard M, Clement N, Lapouble E, Combaret V, Boland A, Meyer V, Deleuze JF, Janoueix-Lerosey I, Barillot E, Delattre O, Maris J, Schleiermacher G and Boeva V
Whole-genome sequencing in patients with ciliopathies uncovers a novel recurrent tandem duplication in IFT140
Geoffroy V, Stoetzel C, Scheidecker S, Schaefer E, Perrault I, Bar S, Kroll A, Delbarre M, Antin M, Leuvrey AS, Henry C, Blanche H, Decker E, Kloth K, Klaus G, Mache C, Martin-Coignard D, McGinn S, Boland A, Deleuze JF, Friant S, Saunier S, Rozet JM, Bergmann C, Dollfus H and Muller J
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, Ounap 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, Carre 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, Cogne B, Sasorith S, Sanlaville D, Retterer K, Odent S, Katsanis N, Bezieau S, Koenig M, Davis EE, Pasquier L and Kury S
Identification of potential genetic risk factors for bipolar disorder by whole-exome sequencing
Husson T, Duboc JB, Quenez O, Charbonnier C, Rotharmel M, Cuenca M, Jegouzo X, Richard AC, Frebourg T, Deleuze JF, Boland A, Genin E, Debette S, Tzourio C, Campion D, Nicolas G and Guillin O
Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families
Jonson PH, Palmio J, Johari M, Penttila S, Evila A, Nelson I, Bonne G, Wiart N, Meyer V, Boland A, Deleuze JF, Masson C, Stojkovic T, Chapon F, Romero NB, Sole G, Ferrer X, Ferreiro A, Hackman P, Richard I and Udd B
Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning
Laugel-Haushalter V, Morkmued S, Stoetzel C, Geoffroy V, Muller J, Boland A, Deleuze JF, Chennen K, Pitiphat W, Dollfus H, Niederreither K, Bloch-Zupan A and Pungchanchaikul P
Biallelic Loss of Function of SORL1 in an Early Onset Alzheimer's Disease Patient
Le Guennec K, Tubeuf H, Hannequin D, Wallon D, Quenez O, Rousseau S, Richard AC, Deleuze JF, Boland A, Frebourg T, Gaildrat P, Campion D, Martins A and Nicolas G
Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei
Lornage X, Sabouraud P, Lannes B, Gaillard D, Schneider R, Deleuze JF, Boland A, Thompson J, Bohm J, Biancalana V and Laporte J
"Corrigendum re ""Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma"" [Eur Urol 2017, 72:747-54]"
Machiela MJ, Hofmann JN, Carreras-Torres R, Brown KM, Johansson M, Wang Z, Foll M, Li P, Rothman N, Savage SA, Gaborieau V, McKay JD, Ye Y, Henrion M, Bruinsma F, Jordan S, Severi G, Hveem K, Vatten LJ, Fletcher T, Koppova K, Larsson SC, Wolk A, Banks RE, Selby PJ, Easton DF, Pharoah P, Andreotti G, Freeman LEB, Koutros S, Albanes D, Mannisto S, Weinstein S, Clark PE, Edwards TE, Lipworth L, Gapstur SM, Stevens VL, Carol H, Freedman ML, Pomerantz MM, Cho E, Kraft P, Preston MA, Wilson KM, Gaziano JM, Sesso HS, Black A, Freedman ND, Huang WY, Anema JG, Kahnoski RJ, Lane BR, Noyes SL, Petillo D, Colli LM, Sampson JN, Besse C, Blanche H, Boland A, Burdette L, Prokhortchouk E, Skryabin KG, Yeager M, Mijuskovic M, Ognjanovic M, Foretova L, Holcatova I, Janout V, Mates D, Mukeriya A, Rascu S, Zaridze D, Bencko V, Cybulski C, Fabianova E, Jinga V, Lissowska J, Lubinski J, Navratilova M, Rudnai P, Szeszenia-Dabrowska N, Benhamou S, Cancel-Tassin G, Cussenot O, Bueno-de-Mesquita HBA, Canzian F, Duell EJ, Ljungberg B, Sitaram RT, Peters U, White E, Anderson GL, Johnson L, Luo J, Buring J, Lee IM, Chow WH, Moore LE, Wood C, Eisen T, Larkin J, Choueiri TK, Lathrop GM, Teh BT, Deleuze JF, Wu X, Houlston RS, Brennan P, Chanock SJ, Scelo G and Purdue MP
Disease-causing variants in TCF4 are a frequent cause of intellectual disability: lessons from large-scale sequencing approaches in diagnosis
Mary L, Piton A, Schaefer E, Mattioli F, Nourisson E, Feger C, Redin C, Barth M, El Chehadeh S, Colin E, Coubes C, Faivre L, Flori E, Genevieve D, Capri Y, Perrin L, Fabre-Teste J, Timbolschi D, Verloes A, Olaso R, Boland A, Deleuze JF, Mandel JL, Gerard B and Giurgea I
Strong selection during the last millennium for African ancestry in the admixed population of Madagascar
Pierron D, Heiske M, Razafindrazaka H, Pereda-Loth V, Sanchez J, Alva O, Arachiche A, Boland A, Olaso R, Deleuze JF, Ricaut FX, Rakotoarisoa JA, Radimilahy C, Stoneking M and Letellier T
Whole genome sequencing identifies a de novo 2.1 Mb balanced paracentric inversion disrupting FOXP1 and leading to severe intellectual disability
Vuillaume ML, Cogne B, Jeanne M, Boland A, Ung DC, Quinquis D, Besnard T, Deleuze JF, Redon R, Bezieau S, Laumonnier F and Toutain A
Clinica Chimica Acta 485 (), 218-223, 2018
B3GAT3-related disorder with craniosynostosis and bone fragility due to a unique mutation
Yauy K, Mau-Them FT, Willems M, Coubes C, Blanchet P, Herlin C, Arrada IT, Sanchez E, Faure JM, Le Gac MP, Prodhomme O, Boland A, Meyer V, Riviere JB, Duffourd Y, Deleuze JF, Guignard T, Captier G, Barat-Houari M and Genevieve D
Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients
Abath Neto O, Moreno CAM, Malfatti E, Donkervoort S, Bohm J, Guimaraes JB, Foley AR, Mohassel P, Dastgir J, Bharucha-Goebel DX, Monges S, Lubieniecki F, Collins J, Medne L, Santi M, Yum S, Banwell B, Salort-Campana E, Rendu J, Faure J, Yis U, Eymard B, Cheraud C, Schneider R, Thompson J, Lornage X, Mesrob L, Lechner D, Boland A, Deleuze JF, Reed UC, Oliveira ASB, Biancalana V, Romero NB, Bonnemann CG, Laporte J and Zanoteli E
Immortalized human myotonic dystrophy muscle cell lines to assess therapeutic compounds
Arandel L, Espinoza MP, Matloka M, Bazinet A, Diniz DD, Naouar N, Rau F, Jollet A, Edom-Vovard F, Mamchaoui K, Tarnopolsky M, Puymirat J, Battail C, Boland A, Deleuze JF, Mouly V, Klein AF and Furling D
Contribution to Alzheimer's disease risk of rare variants in TREM2, SORL1, and ABCA7 in 1779 cases and 1273 controls
Bellenguez C, Charbonnier C, Grenier-Boley B, Quenez O, Le Guennec K, Nicolas G, Chauhan G, Wallon D, Rousseau S, Richard AC, Boland A, Bourque G, Munter HM, Olaso R, Meyer V, Rollin-Sillaire A, Pasquier F, Letenneur L, Redon R, Dartigues JF, Tzourio C, Frebourg T, Lathrop M, Deleuze JF, Hannequin D, Genin E, Amouyel P, Debette S, Lambert JC, Campion D and Collaborators CM
Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues
Biancalana V, Scheidecker S, Miguet M, Laquerriere A, Romero NB, Stojkovic T, Abath Neto O, Mercier S, Voermans N, Tanner L, Rogers C, Ollagnon-Roman E, Roper H, Boutte C, Ben-Shachar S, Lornage X, Vasli N, Schaefer E, Laforet P, Pouget J, Moerman A, Pasquier L, Marcorelle P, Magot A, Kusters B, Streichenberger N, Tranchant C, Dondaine N, Schneider R, Gasnier C, Calmels N, Kremer V, Nguyen K, Perrier J, Kamsteeg EJ, Carlier P, Carlier RY, Thompson J, Boland A, Deleuze JF, Fardeau M, Zanoteli E, Eymard B and Laporte J
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy
Bohm J, Bulla M, Urquhart JE, Malfatti E, Williams SG, O'Sullivan J, Szlauer A, Koch C, Baranello G, Mora M, Ripolone M, Violano R, Moggio M, Kingston H, Dawson T, DeGoede CG, Nixon J, Boland A, Deleuze JF, Romero N, Newman WG, Demaurex N and Laporte J
Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype
Bruel AL, Bigoni S, Kennedy J, Whiteford M, Buxton C, Parmeggiani G, Wherlock M, Woodward G, Greenslade M, Williams M, St-Onge J, Ferlini A, Garani G, Ballardini E, van Bon BW, Acuna-Hidalgo R, Bohring A, Deleuze JF, Boland A, Meyer V, Olaso R, Ginglinger E, Riviere JB, Brunner HG, Hoischen A, Newbury-Ecob R, Faivre L, Thauvin-Robinet C, Thevenon J and Study DDD
Assessment of the prognostic role of a 94-single nucleotide polymorphisms risk score in early breast cancer in the SIGNAL/PHARE prospective cohort: no correlation with clinico-pathological characteristics and outcomes
Curtit E, Pivot X, Henriques J, Paget-Bailly S, Fumoleau P, Rios M, Bonnefoi H, Bachelot T, Soulie P, Jouannaud C, Bourgeois H, Petit T, Tennevet I, Assouline D, Mathieu MC, Jacquin JP, Lavau-Denes S, Darut-Jouve A, Ferrero JM, Tarpin C, Levy C, Delecroix V, Trillet-Lenoir V, Cojocarasu O, Meunier J, Pierga JY, Kerbrat P, Faure-Mercier C, Blanche H, Sahbatou M, Boland A, Bacq D, Besse C, Thomas G, Deleuze JF, Pauporte I, Romieu G and Cox DG
Influence of lung CT changes in chronic obstructive pulmonary disease (COPD) on the human lung microbiome
Engel M, Endesfelder D, Schloter-Hai B, Kublik S, Granitsiotis MS, Boschetto P, Stendardo M, Barta I, Dome B, Deleuze JF, Boland A, Muller-Quernheim J, Prasse A, Welte T, Hohlfeld J, Subramanian D, Parr D, Gut IG, Greulich T, Koczulla AR, Nowinski A, Gorecka D, Singh D, Gupta S, Brightling CE, Hoffmann H, Frankenberger M, Hofer TP, Burggraf D, Heiss-Neumann M, Ziegler-Heitbrock L, Schloter M and Castell WZ
Bdf1 Bromodomains Are Essential for Meiosis and the Expression of Meiotic-Specific Genes
Garcia-Oliver E, Ramus C, Perot J, Arlotto M, Champleboux M, Mietton F, Battail C, Boland A, Deleuze JF, Ferro M, Coute Y and Govin J
17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression
Le Guennec K, Quenez O, Nicolas G, Wallon D, Rousseau S, Richard AC, Alexander J, Paschou P, Charbonnier C, Bellenguez C, Grenier-Boley B, Lechner D, Bihoreau MT, Olaso R, Boland A, Meyer V, Deleuze JF, Amouyel P, Munter HM, Bourque G, Lathrop M, Frebourg T, Redon R, Letenneur L, Dartigues JF, Martinaud O, Kalev O, Mehrabian S, Traykov L, Strobel T, Le Ber I, Caroppo P, Epelbaum S, Jonveaux T, Pasquier F, Rollin-Sillaire A, Genin E, Guyant-Marechal L, Kovacs GG, Lambert JC, Hannequin D, Campion D, Rovelet-Lecrux A and Collaborators C-M
Recessive MYPN Mutations Cause Cap Myopathy with Occasional Nemaline Rods
Lornage X, Malfatti E, Cheraud C, Schneider R, Biancalana V, Cuisset JM, Garibaldi M, Eymard B, Fardeau M, Boland A, Deleuze JF, Thompson J, Carlier RY, Bohm J, Romero NB and Laporte J
Genetic Variants Related to Longer Telomere Length are Associated with Increased Risk of Renal Cell Carcinoma
Machiela MJ, Jonathan NHA, Carreras-Torres R, Brown KM, Johansson M, Wang ZM, Foll M, Li P, Rothman N, Savage SA, Gaborieau V, McKay JD, Ye YQ, Henrion M, Bruinsma F, Jordan S, Severi G, Hveem K, Vatten LJ, Fletcher T, Koppova K, Larsson SC, Wolk A, Banks RE, Selby PJ, Easton DF, Pharoah P, Andreotti G, Freeman LEB, Koutros S, Albanes D, Mannisto S, Weinstein S, Clark PE, Edwards TE, Lipworth L, Gapstur SM, Stevens VL, Carol H, Freedman ML, Pomerantz MM, Cho E, Kraft P, Preston MA, Wilson KM, Gaziano JM, Sesso H, Black A, Freedman ND, Huang WY, Anema JG, Kahnoski RJ, Lane BR, Noyes SL, Petillo D, Colli LM, Sampson JN, Besse C, Blanche H, Boland A, Burdette L, Prokhortchouk E, Skryabin KG, Yeager M, Mijuskovic M, Ognjanovic M, Foretova L, Holcatova I, Janout V, Mates D, Mukeriya A, Rascu S, Zaridze D, Bencko V, Cybulski C, Fabianova E, Jinga V, Lissowska J, Lubinski J, Navratilova M, Rudnai P, Szeszenia-Dabrowska N, Benhamou S, Cancel-Tassin G, Cussenot O, Bueno-De-Mesquita HB, Canzian F, Duell EJ, Ljungberg B, Sitaram RT, Peters U, White E, Anderson GL, Johnson L, Luo J, Buring J, Lee IM, Chow WH, Moore LE, Wood C, Eisen T, Larkin J, Choueiri TK, Lathrop GM, Teh BT, Deleuze JF, Wu X, Houlstonmmm RS, Brennan P, Chanock SJ, Scelo G and Purdue MP
Recessive myopalladin mutations cause congenital cap myopathy with unusual rods
Malfatti E, Lornage X, Cheraud C, Schneider R, Biancalana V, Cuisset J, Garibaldi M, Eymard B, Fardeau M, Boland A, Deleuze J, Thompson J, Bohm J, Romero N and Laporte J
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