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Scientific publications


The Bank Laboratory

Publications

Published on 16 March 2018
  
Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders
Colin E, Duffourd Y, Chevarin M, Tisserant E, Verdez S, Paccaud J, Bruel AL, Tran Mau-Them F, Denomme-Pichon AS, Thevenon J, Safraou H, Besnard T, Goldenberg A, Cogne B, Isidor B, Delanne J, Sorlin A, Moutton S, Fradin M, Dubourg C, Gorce M, Bonneau D, El Chehadeh S, Debray FG, Doco-Fenzy M, Uguen K, Chatron N, Aral B, Marle N, Kuentz P, Boland A, Olaso R, Deleuze JF, Sanlaville D, Callier P, Philippe C, Thauvin-Robinet C, Faivre L and Vitobello A
A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature
Couloigner L, Planes M, Ka C, Audebert-Bellanger S, Redon S, Benech C, Rouault K, Kury S, Peudenier S, Autret S, Gourlaouen I, Bonneau D, Odent S, Bezieau S, Gilbert-Dussardier B, Toutain A, Boland A, Deleuze JF, Le Marechal C, Le Gac G, Ferec C and Uguen K
Relationship between genetic polymorphisms of cytokines and self-reported sleep complaints and habitual caffeine consumption
Drogou C, Erblang M, Metlaine A, Berot S, Derbois C, Olaso R, Boland A, Deleuze JF, Thomas C, Leger D, Chennaoui M, Sauvet F and Gomez-Merino D
Genetic Associations Between Modifiable Risk Factors and Alzheimer Disease
European As, Dementia Biobank Mendelian Randomization C, Luo J, Thomassen JQ, Bellenguez C, Grenier-Boley B, de Rojas I, Castillo A, Parveen K, Kucukali F, Nicolas A, Peters O, Schneider A, Dichgans M, Rujescu D, Scherbaum N, Jurgen D, Riedel-Heller S, Hausner L, Porcel LM, Duzel E, Grimmer T, Wiltfang J, Heilmann-Heimbach S, Moebus S, Tegos T, Scarmeas N, Clarimon J, Moreno F, Perez-Tur J, Bullido MJ, Pastor P, Sanchez-Valle R, Alvarez V, Boada M, Garcia-Gonzalez P, Puerta R, Mir P, Real LM, Pinol-Ripoll G, Garcia-Alberca JM, Royo JL, Rodriguez-Rodriguez E, Soininen H, Kuulasmaa T, de Mendonca A, Mehrabian S, Hort J, Vyhnalek M, van der Lee S, Graff C, Papenberg G, Giedraitis V, Boland A, Bacq-Daian D, Deleuze JF, Nicolas G, Dufouil C, Pasquier F, Hanon O, Debette S, Grunblatt E, Popp J, Benussi L, Galimberti D, Arosio B, Mecocci P, Solfrizzi V, Parnetti L, Squassina A, Tremolizzo L, Borroni B, Nacmias B, Sorbi S, Caffarra P, Seripa D, Rainero I, Daniele A, Masullo C, Spalletta G, Williams J, Amouyel P, Jessen F, Kehoe P, Tsolaki M, Rossi G, Sanchez-Juan P, Sleegers K, Ingelsson M, Andreassen OA, Hiltunen M, Van Duijn C, Sims R, van der Flier W, Ruiz A, Ramirez A, Lambert JC and Frikke-Schmidt R
Excessive self-grooming, gene dysregulation and imbalance between the striosome and matrix compartments in the striatum of Shank3 mutant mice
Ferhat AT, Verpy E, Biton A, Forget B, De Chaumont F, Mueller F, Le Sourd AM, Coqueran S, Schmitt J, Rochefort C, Rondi-Reig L, Leboucher A, Boland A, Fin B, Deleuze JF, Boeckers TM, Ey E and Bourgeron T
"Corrigendum to ""Dissecting the genetic heterogeneity of gastric cancer"""
Hess T, Maj C, Gehlen J, Borisov O, Haas SL, Gockel I, Vieth M, Piessen G, Alakus H, Vashist Y, Pereira C, Knapp M, Schuller V, Quaas A, Grabsch HI, Trautmann J, Malecka-Wojciesko E, Mokrowiecka A, Speller J, Mayr A, Schroder J, Hillmer AM, Heider D, Lordick F, Perez-Aisa A, Campo R, Espinel J, Geijo F, Thomson C, Bujanda L, Sopena F, Lanas A, Pellise M, Pauligk C, Goetze TO, Zelck C, Reingruber J, Hassanin E, Elbe P, Alsabeah S, Lindblad M, Nilsson M, Kreuser N, Thieme R, Tavano F, Pastorino R, Arzani D, Persiani R, Jung JO, Nienhuser H, Ott K, Schumann RR, Kumpf O, Burock S, Arndt V, Jakubowska A, Lawniczak M, Moreno V, Martin V, Kogevinas M, Pollan M, Dabrowska J, Salas A, Cussenot O, Boland-Auge A, Daian D, Deleuze JF, Salvi E, Teder-Laving M, Tomasello G, Ratti M, Senti C, De Re V, Steffan A, Holscher AH, Messerle K, Bruns CJ, Sivins A, Bogdanova I, Skieceviciene J, Arstikyte J, Moehler M, Lang H, Grimminger PP, Kruschewski M, Vassos N, Schildberg C, Lingohr P, Ridwelski K, Lippert H, Fricker N, Krawitz P, Hoffmann P, Nothen MM, Veits L, Izbicki JR, Mostowska A, Martinon-Torres F, Cusi D, Adolfsson R, Cancel-Tassin G, Hoblinger A, Rodermann E, Ludwig M, Keller G, Metspalu A, Brenner H, Heller J, Neef M, Schepke M, Dumoulin FL, Hamann L, Cannizzaro R, Ghidini M, Plassmann D, Geppert M, Malfertheiner P, Glehen O, Skoczylas T, Majewski M, Lubinski J, Palmieri O, Boccia S, Latiano A, Aragones N, Schmidt T, Dinis-Ribeiro M, Medeiros R, Al-Batran SE, Leja M, Kupcinskas J, Garcia-Gonzalez MA, Venerito M and Schumacher J
Dissecting the genetic heterogeneity of gastric cancer
Hess T, Maj C, Gehlen J, Borisov O, Haas SL, Gockel I, Vieth M, Piessen G, Alakus H, Vashist Y, Pereira C, Knapp M, Schuller V, Quaas A, Grabsch HI, Trautmann J, Malecka-Wojciesko E, Mokrowiecka A, Speller J, Mayr A, Schroder J, Hillmer AM, Heider D, Lordick F, Perez-Aisa A, Campo R, Espinel J, Geijo F, Thomson C, Bujanda L, Sopena F, Lanas A, Pellise M, Pauligk C, Goetze TO, Zelck C, Reingruber J, Hassanin E, Elbe P, Alsabeah S, Lindblad M, Nilsson M, Kreuser N, Thieme R, Tavano F, Pastorino R, Arzani D, Persiani R, Jung JO, Nienhuser H, Ott K, Schumann RR, Kumpf O, Burock S, Arndt V, Jakubowska A, Lawniczak M, Moreno V, Martin V, Kogevinas M, Pollan M, Dabrowska J, Salas A, Cussenot O, Boland-Auge A, Daian D, Deleuze JF, Salvi E, Teder-Laving M, Tomasello G, Ratti M, Senti C, De Re V, Steffan A, Holscher AH, Messerle K, Bruns CJ, Sivins A, Bogdanova I, Skieceviciene J, Arstikyte J, Moehler M, Lang H, Grimminger PP, Kruschewski M, Vassos N, Schildberg C, Lingohr P, Ridwelski K, Lippert H, Fricker N, Krawitz P, Hoffmann P, Nothen MM, Veits L, Izbicki JR, Mostowska A, Martinon-Torres F, Cusi D, Adolfsson R, Cancel-Tassin G, Hoblinger A, Rodermann E, Ludwig M, Keller G, Metspalu A, Brenner H, Heller J, Neef M, Schepke M, Dumoulin FL, Hamann L, Cannizzaro R, Ghidini M, Plassmann D, Geppert M, Malfertheiner P, Gehlen O, Skoczylas T, Majewski M, Lubinski J, Palmieri O, Boccia S, Latiano A, Aragones N, Schmidt T, Dinis-Ribeiro M, Medeiros R, Al-Batran SE, Leja M, Kupcinskas J, Garcia-Gonzalez MA, Venerito M and Schumacher J
Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism
Iglesias MJ, Sanchez-Rivera L, Ibrahim-Kosta M, Naudin C, Munsch G, Goumidi L, Farm M, Smith PM, Thibord F, Kral-Pointner JB, Hong MG, Suchon P, Germain M, Schottmaier W, Dusart P, Boland A, Kotol D, Edfors F, Koprulu M, Pietzner M, Langenberg C, Damrauer SM, Johnson AD, Klarin DM, Smith NL, Smadja DM, Holmstrom M, Magnusson M, Silveira A, Uhlen M, Renne T, Martinez-Perez A, Emmerich J, Deleuze JF, Antovic J, Soria Fernandez JM, Assinger A, Schwenk JM, Souto Andres JC, Morange PE, Butler LM, Tregouet DA and Odeberg J
Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease
Jiao Y, Truong T, Eon-Marchais S, Mebirouk N, Caputo SM, Dondon MG, Karimi M, Le Gal D, Beauvallet J, Le Floch E, Dandine-Roulland C, Bacq-Daian D, Olaso R, Albuisson J, Audebert-Bellanger S, Berthet P, Bonadona V, Buecher B, Caron O, Cavaille M, Chiesa J, Colas C, Collonge-Rame MA, Coupier I, Delnatte C, De Pauw A, Dreyfus H, Fert-Ferrer S, Gauthier-Villars M, Gesta P, Giraud S, Gladieff L, Golmard L, Lasset C, Lejeune-Dumoulin S, Leone M, Limacher JM, Lortholary A, Luporsi E, Mari V, Maugard CM, Mortemousque I, Mouret-Fourme E, Nambot S, Nogues C, Popovici C, Prieur F, Pujol P, Sevenet N, Sobol H, Toulas C, Uhrhammer N, Vaur D, Venat L, Boland-Auge A, Guenel P, Deleuze JF, Stoppa-Lyonnet D, Andrieu N and Lesueur F
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects
Karam A, Delvallee C, Estrada-Cuzcano A, Geoffroy V, Lamouche JB, Leuvrey AS, Nourisson E, Tarabeux J, Stoetzel C, Scheidecker S, Porter LF, Genin E, Redon R, Sandron F, Boland A, Deleuze JF, Le May N, Dollfus H and Muller J
A Case-Only Genome-Wide Interaction Study of Smoking and Bladder Cancer Risk: Results from the COBLAnCE Cohort
Karimi M, Mendez-Pineda S, Blanche H, Boland A, Besse C, Deleuze JF, Meng XY, Sirab N, Groussard K, Lebret T, Bonastre J, Allory Y, Radvanyi F, Benhamou S and Michiels S
Multiancestry analysis of the HLA locus in Alzheimer's and Parkinson's diseases uncovers a shared adaptive immune response mediated by HLA-DRB1*04 subtypes
Le Guen Y, Luo G, Ambati A, Damotte V, Jansen I, Yu E, Nicolas A, de Rojas I, Peixoto Leal T, Miyashita A, Bellenguez C, Lian MM, Parveen K, Morizono T, Park H, Grenier-Boley B, Naito T, Kucukali F, Talyansky SD, Yogeshwar SM, Sempere V, Satake W, Alvarez V, Arosio B, Belloy ME, Benussi L, Boland A, Borroni B, Bullido MJ, Caffarra P, Clarimon J, Daniele A, Darling D, Debette S, Deleuze JF, Dichgans M, Dufouil C, During E, Duzel E, Galimberti D, Garcia-Ribas G, Garcia-Alberca JM, Garcia-Gonzalez P, Giedraitis V, Goldhardt O, Graff C, Grunblatt E, Hanon O, Hausner L, Heilmann-Heimbach S, Holstege H, Hort J, Jung YJ, Jurgen D, Kern S, Kuulasmaa T, Lee KH, Lin L, Masullo C, Mecocci P, Mehrabian S, de Mendonca A, Boada M, Mir P, Moebus S, Moreno F, Nacmias B, Nicolas G, Niida S, Nordestgaard BG, Papenberg G, Papma J, Parnetti L, Pasquier F, Pastor P, Peters O, Pijnenburg YAL, Pinol-Ripoll G, Popp J, Porcel LM, Puerta R, Perez-Tur J, Rainero I, Ramakers I, Real LM, Riedel-Heller S, Rodriguez-Rodriguez E, Ross OA, Luis Royo J, Rujescu D, Scarmeas N, Scheltens P, Scherbaum N, Schneider A, Seripa D, Skoog I, Solfrizzi V, Spalletta G, Squassina A, van Swieten J, Sanchez-Valle R, Tan EK, Tegos T, Teunissen C, Thomassen JQ, Tremolizzo L, Vyhnalek M, Verhey F, Waern M, Wiltfang J, Zhang J, Eadb, group GAs, consortium D, DemGene, Eadi, Gerad, Asian Parkinson's Disease Genetics c, Zetterberg H, Blennow K, He Z, Williams J, Amouyel P, Jessen F, Kehoe PG, Andreassen OA, Van Duin C, Tsolaki M, Sanchez-Juan P, Frikke-Schmidt R, Sleegers K, Toda T, Zettergren A, Ingelsson M, Okada Y, Rossi G, Hiltunen M, Gim J, Ozaki K, Sims R, Foo JN, van der Flier W, Ikeuchi T, Ramirez A, Mata I, Ruiz A, Gan-Or Z, Lambert JC, Greicius MD and Mignot E
High diagnostic potential of short and long read genome sequencing with transcriptome analysis in exome-negative developmental disorders
Lecoquierre F, Quenez O, Fourneaux S, Coutant S, Vezain M, Rolain M, Drouot N, Boland A, Olaso R, Meyer V, Deleuze JF, Dabbagh D, Gilles I, Gayet C, Saugier-Veber P, Goldenberg A, Guerrot AM and Nicolas G
Risperidone response in patients with schizophrenia drives DNA methylation changes in immune and neuronal systems
Lokmer A, Alladi CG, Troudet R, Bacq-Daian D, Boland-Auge A, Latapie V, Deleuze JF, RajKumar RP, Shewade DG, Belivier F, Marie-Claire C and Jamain S
Investigation of common genetic risk factors between thyroid traits and breast cancer
Lucotte EA, Asgari Y, Sugier PE, Karimi M, Domenighetti C, Lesueur F, Boland-Auge A, Ostroumova E, de Vathaire F, Zidane M, Guenel P, Deleuze JF, Boutron-Ruault MC, Severi G, Liquet B and Truong T
Multiomic analysis of malignant pleural mesothelioma identifies molecular axes and specialized tumor profiles driving intertumor heterogeneity
Mangiante L, Alcala N, Sexton-Oates A, Di Genova A, Gonzalez-Perez A, Khandekar A, Bergstrom EN, Kim J, Liu X, Blazquez-Encinas R, Giacobi C, Le Stang N, Boyault S, Cuenin C, Tabone-Eglinger S, Damiola F, Voegele C, Ardin M, Michallet MC, Soudade L, Delhomme TM, Poret A, Brevet M, Copin MC, Giusiano-Courcambeck S, Damotte D, Girard C, Hofman V, Hofman P, Mouroux J, Cohen C, Lacomme S, Mazieres J, de Montpreville VT, Perrin C, Planchard G, Rousseau N, Rouquette I, Sagan C, Scherpereel A, Thivolet F, Vignaud JM, Jean D, Ilg AGS, Olaso R, Meyer V, Boland-Auge A, Deleuze JF, Altmuller J, Nuernberg P, Ibanez-Costa A, Castano JP, Lantuejoul S, Ghantous A, Maussion C, Courtiol P, Hernandez-Vargas H, Caux C, Girard N, Lopez-Bigas N, Alexandrov LB, Galateau-Salle F, Foll M and Fernandez-Cuesta L
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
Matuozzo D, Talouarn E, Marchal A, Zhang P, Manry J, Seeleuthner Y, Zhang Y, Bolze A, Chaldebas M, Milisavljevic B, Gervais A, Bastard P, Asano T, Bizien L, Barzaghi F, Abolhassani H, Abou Tayoun A, Aiuti A, Alavi Darazam I, Allende LM, Alonso-Arias R, Arias AA, Aytekin G, Bergman P, Bondesan S, Bryceson YT, Bustos IG, Cabrera-Marante O, Carcel S, Carrera P, Casari G, Chaibi K, Colobran R, Condino-Neto A, Covill LE, Delmonte OM, El Zein L, Flores C, Gregersen PK, Gut M, Haerynck F, Halwani R, Hancerli S, Hammarstrom L, Hatipoglu N, Karbuz A, Keles S, Kyheng C, Leon-Lopez R, Franco JL, Mansouri D, Martinez-Picado J, Metin Akcan O, Migeotte I, Morange PE, Morelle G, Martin-Nalda A, Novelli G, Novelli A, Ozcelik T, Palabiyik F, Pan-Hammarstrom Q, de Diego RP, Planas-Serra L, Pleguezuelo DE, Prando C, Pujol A, Reyes LF, Riviere JG, Rodriguez-Gallego C, Rojas J, Rovere-Querini P, Schluter A, Shahrooei M, Sobh A, Soler-Palacin P, Tandjaoui-Lambiotte Y, Tipu I, Tresoldi C, Troya J, van de Beek D, Zatz M, Zawadzki P, Al-Muhsen SZ, Alosaimi MF, Alsohime FM, Baris-Feldman H, Butte MJ, Constantinescu SN, Cooper MA, Dalgard CL, Fellay J, Heath JR, Lau YL, Lifton RP, Maniatis T, Mogensen TH, von Bernuth H, Lermine A, Vidaud M, Boland A, Deleuze JF, Nussbaum R, Kahn-Kirby A, Mentre F, Tubiana S, Gorochov G, Tubach F, Hausfater P, Effort CHG, Group COS, French CCSG, Co VCC, Clinicians C-S, Clinicians C, Orchestra Working G, Amsterdam UMCC-B, Group N-UCS, Meyts I, Zhang SY, Puel A, Notarangelo LD, Boisson-Dupuis S, Su HC, Boisson B, Jouanguy E, Casanova JL, Zhang Q, Abel L and Cobat A
Co-Transplantation of Barcoded Lymphoid-Primed Multipotent (LMPP) and Common Lymphocyte (CLP) Progenitors Reveals a Major Contribution of LMPP to the Lymphoid Lineage
Michaels V, Chalabi S, Legrand A, Renard J, Tejerina E, Daouya M, Fabrega S, Megret J, Olaso R, Boland A, Deleuze JF, Battail C, Tronik-Le Roux D and Ezine S
Genome-wide association study of a semicontinuous trait: illustration of the impact of the modeling strategy through the study of Neutrophil Extracellular Traps levels
Munsch G, Proust C, Labrouche-Colomer S, Aissi D, Boland A, Morange PE, Roche A, de Chaisemartin L, Harroche A, Olaso R, Deleuze JF, James C, Emmerich J, Smadja DM, Jacqmin-Gadda H and Tregouet DA
Cost of exome analysis in patients with intellectual disability: a micro-costing study in a French setting
Soilly AL, Robert-Viard C, Besse C, Bruel AL, Gerard B, Boland A, Piton A, Duffourd Y, Muller J, Poe C, Jouan T, El Doueiri S, Faivre L, Bacq-Daian D, Isidor B, Genevieve D, Odent S, Philip N, Doco-Fenzy M, Lacombe D, Asensio ML, Deleuze JF, Binquet C, Group DI, Thauvin-Robinet C and Lejeune C
Investigation of Shared Genetic Risk Factors Between Parkinson's Disease and Cancers
Sugier PE, Lucotte EA, Domenighetti C, Law MH, Iles MM, Brown K, Amos C, McKay JD, Hung RJ, Karimi M, Bacq-Daian D, Boland-Auge A, Olaso R, Deleuze JF, Lesueur F, Ostroumova E, Kesminiene A, de Vathaire F, Guenel P, consortium E, Sreelatha AAK, Schulte C, Grover S, May P, Bobbili DR, Radivojkov-Blagojevic M, Lichtner P, Singleton AB, Hernandez DG, Edsall C, Mellick GD, Zimprich A, Pirker W, Rogaeva E, Lang AE, Koks S, Taba P, Lesage S, Brice A, Corvol JC, Chartier-Harlin MC, Mutez E, Brockmann K, Deutschlander AB, Hadjigeorgiou GM, Dardiotis E, Stefanis L, Simitsi AM, Valente EM, Petrucci S, Straniero L, Zecchinelli A, Pezzoli G, Brighina L, Ferrarese C, Annesi G, Quattrone A, Gagliardi M, Matsuo H, Nakayama A, Hattori N, Nishioka K, Chung SJ, Kim YJ, Kolber P, van de Warrenburg BPC, Bloem BR, Aasly J, Toft M, Pihlstrom L, Guedes LC, Ferreira JJ, Bardien S, Carr J, Tolosa E, Ezquerra M, Pastor P, Diez-Fairen M, Wirdefeldt K, Pedersen N, Ran C, Belin AC, Puschmann A, Rodstrom EY, Clarke CE, Morrison KE, Tan M, Krainc D, Burbulla LF, Farrer MJ, Kruger R, Gasser T, Sharma M, Comprehensive Unbiased Risk Factor Assessment for G, Environment in Parkinson's Disease c, Truong T and Elbaz A
Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2
Zhu G, Badonyi M, Franklin L, Seabra L, Rice GI, Anne Boland A, Deleuze JF, El-Chehadeh S, Anheim M, de Saint-Martin A, Pellegrini S, Marsh JA, Crow YJ and El-Daher MT
Genetic factors for differentiated thyroid cancer in French Polynesia: new candidate loci
Zidane M, Haber M, Truong T, Rachedi F, Ory C, Chevillard S, Blanche H, Olaso R, Boland A, Conte E, Karimi M, Ren Y, Xhaard C, Souchard V, Gardon J, Taquet M, Bouville A, Deleuze JF, Drozdovitch V, de Vathaire F and Cazier JB
The loss of biodiversity in Madagascar is contemporaneous with major demographic events
Alva O, Leroy A, Heiske M, Pereda-Loth V, Tisseyre L, Boland A, Deleuze JF, Rocha J, Schlebusch C, Fortes-Lima C, Stoneking M, Radimilahy C, Rakotoarisoa JA, Letellier T and Pierron D
New insights into the genetic etiology of Alzheimer's disease and related dementias
Bellenguez C, Kucukali F, Jansen IE, Kleineidam L, Moreno-Grau S, Amin N, Naj AC, Campos-Martin R, Grenier-Boley B, Andrade V, Holmans PA, Boland A, Damotte V, van der Lee SJ, Costa MR, Kuulasmaa T, Yang Q, de Rojas I, Bis JC, Yaqub A, Prokic I, Chapuis J, Ahmad S, Giedraitis V, Aarsland D, Garcia-Gonzalez P, Abdelnour C, Alarcon-Martin E, Alcolea D, Alegret M, Alvarez I, Alvarez V, Armstrong NJ, Tsolaki A, Antunez C, Appollonio I, Arcaro M, Archetti S, Pastor AA, Arosio B, Athanasiu L, Bailly H, Banaj N, Baquero M, Barral S, Beiser A, Pastor AB, Below JE, Benchek P, Benussi L, Berr C, Besse C, Bessi V, Binetti G, Bizarro A, Blesa R, Boada M, Boerwinkle E, Borroni B, Boschi S, Bossu P, Brathen G, Bressler J, Bresner C, Brodaty H, Brookes KJ, Brusco LI, Buiza-Rueda D, Burger K, Burholt V, Bush WS, Calero M, Cantwell LB, Chene G, Chung J, Cuccaro ML, Carracedo A, Cecchetti R, Cervera-Carles L, Charbonnier C, Chen HH, Chillotti C, Ciccone S, Claassen J, Clark C, Conti E, Corma-Gomez A, Costantini E, Custodero C, Daian D, Dalmasso MC, Daniele A, Dardiotis E, Dartigues JF, de Deyn PP, de Paiva Lopes K, de Witte LD, Debette S, Deckert J, Del Ser T, Denning N, DeStefano A, Dichgans M, Diehl-Schmid J, Diez-Fairen M, Rossi PD, Djurovic S, Duron E, Duzel E, Dufouil C, Eiriksdottir G, Engelborghs S, Escott-Price V, Espinosa A, Ewers M, Faber KM, Fabrizio T, Nielsen SF, Fardo DW, Farotti L, Fenoglio C, Fernandez-Fuertes M, Ferrari R, Ferreira CB, Ferri E, Fin B, Fischer P, Fladby T, Fliessbach K, Fongang B, Fornage M, Fortea J, Foroud TM, Fostinelli S, Fox NC, Franco-Macias E, Bullido MJ, Frank-Garcia A, Froelich L, Fulton-Howard B, Galimberti D, Garcia-Alberca JM, Garcia-Gonzalez P, Garcia-Madrona S, Garcia-Ribas G, Ghidoni R, Giegling I, Giorgio G, Goate AM, Goldhardt O, Gomez-Fonseca D, Gonzalez-Perez A, Graff C, Grande G, Green E, Grimmer T, Grunblatt E, Grunin M, Gudnason V, Guetta-Baranes T, Haapasalo A, Hadjigeorgiou G, Haines JL, Hamilton-Nelson KL, Hampel H, Hanon O, Hardy J, Hartmann AM, Hausner L, Harwood J, Heilmann-Heimbach S, Helisalmi S, Heneka MT, Hernandez I, Herrmann MJ, Hoffmann P, Holmes C, Holstege H, Vilas RH, Hulsman M, Humphrey J, Biessels GJ, Jian X, Johansson C, Jun GR, Kastumata Y, Kauwe J, Kehoe PG, Kilander L, Stahlbom AK, Kivipelto M, Koivisto A, Kornhuber J, Kosmidis MH, Kukull WA, Kuksa PP, Kunkle BW, Kuzma AB, Lage C, Laukka EJ, Launer L, Lauria A, Lee CY, Lehtisalo J, Lerch O, Lleo A, Longstreth W, Jr., Lopez O, de Munain AL, Love S, Lowemark M, Luckcuck L, Lunetta KL, Ma Y, Macias J, MacLeod CA, Maier W, Mangialasche F, Spallazzi M, Marquie M, Marshall R, Martin ER, Montes AM, Rodriguez CM, Masullo C, Mayeux R, Mead S, Mecocci P, Medina M, Meggy A, Mehrabian S, Mendoza S, Menendez-Gonzalez M, Mir P, Moebus S, Mol M, Molina-Porcel L, Montrreal L, Morelli L, Moreno F, Morgan K, Mosley T, Nothen MM, Muchnik C, Mukherjee S, Nacmias B, Ngandu T, Nicolas G, Nordestgaard BG, Olaso R, Orellana A, Orsini M, Ortega G, Padovani A, Paolo C, Papenberg G, Parnetti L, Pasquier F, Pastor P, Peloso G, Perez-Cordon A, Perez-Tur J, Pericard P, Peters O, Pijnenburg YAL, Pineda JA, Pinol-Ripoll G, Pisanu C, Polak T, Popp J, Posthuma D, Priller J, Puerta R, Quenez O, Quintela I, Thomassen JQ, Rabano A, Rainero I, Rajabli F, Ramakers I, Real LM, Reinders MJT, Reitz C, Reyes-Dumeyer D, Ridge P, Riedel-Heller S, Riederer P, Roberto N, Rodriguez-Rodriguez E, Rongve A, Allende IR, Rosende-Roca M, Royo JL, Rubino E, Rujescu D, Saez ME, Sakka P, Saltvedt I, Sanabria A, Sanchez-Arjona MB, Sanchez-Garcia F, Juan PS, Sanchez-Valle R, Sando SB, Sarnowski C, Satizabal CL, Scamosci M, Scarmeas N, Scarpini E, Scheltens P, Scherbaum N, Scherer M, Schmid M, Schneider A, Schott JM, Selbaek G, Seripa D, Serrano M, Sha J, Shadrin AA, Skrobot O, Slifer S, Snijders GJL, Soininen H, Solfrizzi V, Solomon A, Song Y, Sorbi S, Sotolongo-Grau O, Spalletta G, Spottke A, Squassina A, Stordal E, Tartan JP, Tarraga L, Tesi N, Thalamuthu A, Thomas T, Tosto G, Traykov L, Tremolizzo L, Tybjaerg-Hansen A, Uitterlinden A, Ullgren A, Ulstein I, Valero S, Valladares O, Broeckhoven CV, Vance J, Vardarajan BN, van der Lugt A, Dongen JV, van Rooij J, van Swieten J, Vandenberghe R, Verhey F, Vidal JS, Vogelgsang J, Vyhnalek M, Wagner M, Wallon D, Wang LS, Wang R, Weinhold L, Wiltfang J, Windle G, Woods B, Yannakoulia M, Zare H, Zhao Y, Zhang X, Zhu C, Zulaica M, Eadb, Gr@Ace, Degesco, Eadi, Gerad, Demgene, FinnGen, Adgc, Charge, Farrer LA, Psaty BM, Ghanbari M, Raj T, Sachdev P, Mather K, Jessen F, Ikram MA, de Mendonca A, Hort J, Tsolaki M, Pericak-Vance MA, Amouyel P, Williams J, Frikke-Schmidt R, Clarimon J, Deleuze JF, Rossi G, Seshadri S, Andreassen OA, Ingelsson M, Hiltunen M, Sleegers K, Schellenberg GD, van Duijn CM, Sims R, van der Flier WM, Ruiz A, Ramirez A and Lambert JC
Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study
Binquet C, Lejeune C, Faivre L, Bouctot M, Asensio ML, Simon A, Deleuze JF, Boland A, Guillemin F, Seror V, Delmas C, Esperou H, Duffourd Y, Lyonnet S, Odent S, Heron D, Sanlaville D, Frebourg T, Gerard B and Dollfus H
Screening for genetic modifying factors in Li-Fraumeni and heritable TP53-related cancer syndromes
Bougeard G, Coutant S, Charbonnier C, Bou J, Charbonnier F, Bouvignies E, Kasper E, Baert-Desurmont S, Houdayer C, Fin B, Boland A, Deleuze JF, Brugieres L, Tournier I and Frebourg T
European Journal of Human Genetics 30 (Suppl 1), 430-430, 2022
Temporal Gene Expression Profiles Reflect the Dynamics of Lymphoid Differentiation
Chalabi S, Legrand A, Michaels V, Palomares MA, Olaso R, Boland A, Deleuze JF, Ezine S, Battail C and Tronik-Le Roux D
Typical clinical diagnosis and negative first-line molecular results: when genome sequencing and transcriptomics integration helps untangle unexplained rare Mendelian diseases
Colin E, Duffourd Y, Callier P, Tisserant E, Besnard T, Goldenberg A, Cogne B, Isidor B, Sorlin A, Moutton S, Delanne J, Bruel AL, Mau-Them FT, Denomme-Pichon AS, Fradin M, Dubourg C, Gorce M, El Chehadeh S, Debray FG, Fenzy MD, Uguen K, Boland A, Olaso R, Deleuze JF, Sanlaville D, Philippe C, Thauvin-Robinet C, Faivre L and Vitobello A
European Journal of Human Genetics 30 (Suppl 1), 356-357, 2022
OMIXCARE: OMICS technologies solved about 33% of the patients with heterogeneous rare neuro-developmental disorders and negative exome sequencing results and identified 13% additional candidate variants
Colin E, Duffourd Y, Tisserant E, Relator R, Bruel AL, Tran Mau-Them F, Denomme-Pichon AS, Safraou H, Delanne J, Jean-Marcais N, Keren B, Isidor B, Vincent M, Mignot C, Heron D, Afenjar A, Heide S, Faudet A, Charles P, Odent S, Herenger Y, Sorlin A, Moutton S, Kerkhof J, McConkey H, Chevarin M, Poe C, Couturier V, Bourgeois V, Callier P, Boland A, Olaso R, Philippe C, Sadikovic B, Thauvin-Robinet C, Faivre L, Deleuze JF and Vitobello A
A new case of Kaufman Oculocerebrofacial syndrome caused by two splicing variants in UBE3B and review of the literature
Couloigner L, Planes M, Ka C, Audebert-Bellanger S, Redon S, Benech C, Rouault K, Kury S, Peudenier S, Autret S, Gourlaouen I, Bonneau D, Odent S, Bezieau S, Gilbert-Dussardier B, Toutain A, Boland A, Deleuze JF, Le Marechal C, Le Gac G, Ferec C and Uguen K
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients
Coursimault J, Cassinari K, Lecoquierre F, Quenez O, Coutant S, Derambure C, Vezain M, Drouot N, Vera G, Schaefer E, Philippe A, Doray B, Lambert L, Ghoumid J, Smol T, Rama M, Legendre M, Lacombe D, Maurin PF, Olaso R, Boland A, Deleuze JF, Goldenberg A, Saugier-Veber P and Nicolas G
MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects
Coursimault J, Guerrot AM, Morrow MM, Schramm C, Zamora FM, Shanmugham A, Liu S, Zou F, Bilan F, Le Guyader G, Bruel AL, Denomme-Pichon AS, Faivre L, Tran Mau-Them F, Tessarech M, Colin E, El Chehadeh S, Gerard B, Schaefer E, Cogne B, Isidor B, Nizon M, Doummar D, Valence S, Heron D, Keren B, Mignot C, Coutton C, Devillard F, Alaix AS, Amiel J, Colleaux L, Munnich A, Poirier K, Rio M, Rondeau S, Barcia G, Callewaert B, Dheedene A, Kumps C, Vergult S, Menten B, Chung WK, Hernan R, Larson A, Nori K, Stewart S, Wheless J, Kresge C, Pletcher BA, Caumes R, Smol T, Sigaudy S, Coubes C, Helm M, Smith R, Morrison J, Wheeler PG, Kritzer A, Jouret G, Afenjar A, Deleuze JF, Olaso R, Boland A, Poitou C, Frebourg T, Houdayer C, Saugier-Veber P, Nicolas G and Lecoquierre F
Real-time genotyping-based breast cancer risk assessment in MyPeBS, an international randomized trial in the general population comparing risk-stratified to standard breast cancer screening (BCS)
Delaloge S, Rossi PG, Balleyguier C, Guindy M, Gilbert FJ, Burrion JB, Roman M, de Montgolfier S, Giordano L, Drubay D, Evans DG, Keatley D, Gauthier E, d'Aische AD, Baron C, Boland A, Blanche H, Couch D, Deleuze JF and Michiels S
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network
Denomme-Pichon AS, Vitobello A, Olaso R, Ziegler A, Jeanne M, Tran Mau-Them F, Couturier V, Racine C, Isidor B, Poe C, Jouan T, Boland A, Fin B, Bacq-Daian D, Besse C, Garde A, Prost A, Garret P, Tisserant E, Delanne J, Nambot S, Juven A, Gorce M, Nizon M, Vincent M, Moutton S, Fradin M, Lavillaureix A, Rollier P, Capri Y, Van-Gils J, Busa T, Sigaudy S, Pasquier L, Barth M, Bruel AL, Flamant C, Prouteau C, Bonneau D, Toutain A, Chantegret C, Callier P, Philippe C, Duffourd Y, Deleuze JF, Sorlin A, Faivre L and Thauvin-Robinet C
Relationship between genetic polymorphisms of cytokines and self-reported sleep complaints and habitual caffeine consumption
Drogou C, Erblang M, Metlaine A, Berot S, Derbois C, Olaso R, Boland A, Deleuze JF, Thomas C, Leger D, Chennaoui M, Sauvet F and Gomez-Merino D
Operational tolerance after hematopoietic stem cell transplantation is characterized by distinct transcriptional, phenotypic, and metabolic signatures
Dubouchet L, Todorov H, Seurinck R, Vallet N, Van Gassen S, Corneau A, Blanc C, Zouali H, Boland A, Deleuze JF, Ingram B, de Latour RP, Saeys Y, Socie G and Michonneau D
Genetic analysis of lung cancer and the germline impact on somatic mutation burden
Gabriel AAG, Atkins JR, Penha RCC, Smith-Byrne K, Gaborieau V, Voegele C, Abedi-Ardekani B, Milojevic M, Olaso R, Meyer V, Boland A, Deleuze JF, Zaridze D, Mukeriya A, Swiatkowska B, Janout V, Schejbalova M, Mates D, Stojsic J, Ognjanovic M, consortium I, Witte JS, Rashkin SR, Kachuri L, Hung RJ, Kar S, Brennan P, Sertier AS, Ferrari A, Viari A, Johansson M, Amos CI, Foll M and McKay JD
A comparison of high-throughput SARS-CoV-2 sequencing methods from nasopharyngeal samples
Gerber Z, Daviaud C, Delafoy D, Sandron F, Alidjinou EK, Mercier J, Gerber S, Meyer V, Boland A, Bocket L, Olaso R and Deleuze JF
Whole Exome/Genome Sequencing Joint Analysis of a Family with Oligogenic Familial Hypercholesterolemia
Ghaleb Y, Elbitar S, Philippi A, El Khoury P, Azar Y, Andrianirina M, Loste A, Abou-Khalil Y, Nicolas G, Le Borgne M, Moulin P, Di-Filippo M, Charriere S, Farnier M, Yelnick C, Carreau V, Ferrieres J, Lecerf JM, Derksen A, Bernard G, Gauthier MS, Coulombe B, Lutjohann D, Fin B, Boland A, Olaso R, Deleuze JF, Rabes JP, Boileau C, Abifadel M and Varret M
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease
Holstege H, Hulsman M, Charbonnier C, Grenier-Boley B, Quenez O, Grozeva D, van Rooij JGJ, Sims R, Ahmad S, Amin N, Norsworthy PJ, Dols-Icardo O, Hummerich H, Kawalia A, Amouyel P, Beecham GW, Berr C, Bis JC, Boland A, Bossu P, Bouwman F, Bras J, Campion D, Cochran JN, Daniele A, Dartigues JF, Debette S, Deleuze JF, Denning N, DeStefano AL, Farrer LA, Fernandez MV, Fox NC, Galimberti D, Genin E, Gille JJP, Le Guen Y, Guerreiro R, Haines JL, Holmes C, Ikram MA, Ikram MK, Jansen IE, Kraaij R, Lathrop M, Lemstra AW, Lleo A, Luckcuck L, Mannens M, Marshall R, Martin ER, Masullo C, Mayeux R, Mecocci P, Meggy A, Mol MO, Morgan K, Myers RM, Nacmias B, Naj AC, Napolioni V, Pasquier F, Pastor P, Pericak-Vance MA, Raybould R, Redon R, Reinders MJT, Richard AC, Riedel-Heller SG, Rivadeneira F, Rousseau S, Ryan NS, Saad S, Sanchez-Juan P, Schellenberg GD, Scheltens P, Schott JM, Seripa D, Seshadri S, Sie D, Sistermans EA, Sorbi S, van Spaendonk R, Spalletta G, Tesi N, Tijms B, Uitterlinden AG, van der Lee SJ, Visser PJ, Wagner M, Wallon D, Wang LS, Zarea A, Clarimon J, van Swieten JC, Greicius MD, Yokoyama JS, Cruchaga C, Hardy J, Ramirez A, Mead S, van der Flier WM, van Duijn CM, Williams J, Nicolas G, Bellenguez C and Lambert JC
Genome-wide meta-analysis for Alzheimer's disease cerebrospinal fluid biomarkers
Jansen RE, van der Lee SJ, Gomez-Fonseca D, de Rojas I, Dalmasso MC, Grenier-Boley B, Zettergren A, Mishra A, Ali M, Andrade V, Bellenguez C, Kleineidam L, Kucukali F, Sung YJ, Tesi N, Vromen EM, Wightman DP, Alcolea D, Alegret M, Alvarez I, Amouyel P, Athanasiu L, Bahrami S, Bailly H, Belbin O, Bergh S, Bertram L, Biessels GJ, Blennow K, Blesa R, Boada M, Boland A, Buerger K, Carracedo A, Cervera-Carles L, Chene G, Claassen J, Debette S, Deleuze JF, de Deyn PP, Diehl-Schmid J, Djurovic S, Dols-Icardo O, Dufouil C, Duron E, Duzel E, Fladby T, Fortea J, Frolich L, Garcia-Gonzalez P, Garcia-Martinez M, Giegling I, Goldhardt O, Gobom J, Grimmer T, Haapasalo A, Hampel H, Hanon O, Hausner L, Heilmann-Heimbach S, Helisalmi S, Heneka MT, Hernandez I, Herukka SK, Holstege H, Jarholm J, Kern S, Knapskog AB, Koivisto AM, Kornhuber J, Kuulasmaa T, Lage C, Laske C, Leinonen V, Lewczuk P, Lleo A, de Munain AL, Lopez-Garcia S, Maier W, Marquie M, Mol MO, Montrreal L, Moreno F, Moreno-Grau S, Nicolas G, Nothen MM, Orellana A, Palhaugen L, Papma JM, Pasquier F, Perneczky R, Peters O, Pijnenburg YAL, Popp J, Posthuma D, Pozueta A, Priller J, Puerta R, Quintela I, Ramakers I, Rodriguez-Rodriguez E, Rujescu D, Saltvedt I, Sanchez-Juan P, Scheltens P, Scherbaum N, Schmid M, Schneider A, Selbaek G, Selnes P, Shadrin A, Skoog I, Soininen H, Tarraga L, Teipel S, Tijms B, Tsolaki M, Van Broeckhoven C, Van Dongen J, van Swieten JC, Vandenberghe R, Vidal JS, Visser PJ, Vogelgsang J, Waern M, Wagner M, Wiltfang J, Wittens MMJ, Zetterberg H, Zulaica M, van Duijn CM, Bjerke M, Engelborghs S, Jessen F, Teunissen CE, Pastor P, Hiltunen M, Ingelsson M, Andreassen OA, Clarimon J, Sleegers K, Ruiz A, Ramirez A, Cruchaga C, Lambert JC and van der Flier W
Association of Rare APOE Missense Variants V236E and R251G With Risk of Alzheimer Disease
Le Guen Y, Belloy ME, Grenier-Boley B, de Rojas I, Castillo-Morales A, Jansen I, Nicolas A, Bellenguez C, Dalmasso C, Kucukali F, Eger SJ, Rasmussen KL, Thomassen JQ, Deleuze JF, He Z, Napolioni V, Amouyel P, Jessen F, Kehoe PG, van Duijn C, Tsolaki M, Sanchez-Juan P, Sleegers K, Ingelsson M, Rossi G, Hiltunen M, Sims R, van der Flier WM, Ramirez A, Andreassen OA, Frikke-Schmidt R, Williams J, Ruiz A, Lambert JC, Greicius MD, Members of the Eadb GRACEDDG, Groups E, Arosio B, Benussi L, Boland A, Borroni B, Caffarra P, Daian D, Daniele A, Debette S, Dufouil C, Duzel E, Galimberti D, Giedraitis V, Grimmer T, Graff C, Grunblatt E, Hanon O, Hausner L, Heilmann-Heimbach S, Holstege H, Hort J, Jurgen D, Kuulasmaa T, van der Lugt A, Masullo C, Mecocci P, Mehrabian S, de Mendonca A, Moebus S, Nacmias B, Nicolas G, Olaso R, Papenberg G, Parnetti L, Pasquier F, Peters O, Pijnenburg YAL, Popp J, Rainero I, Ramakers I, Riedel-Heller S, Scarmeas N, Scheltens P, Scherbaum N, Schneider A, Seripa D, Soininen H, Solfrizzi V, Spalletta G, Squassina A, van Swieten J, Tegos TJ, Tremolizzo L, Verhey F, Vyhnalek M, Wiltfang J, Boada M, Garcia-Gonzalez P, Puerta R, Real LM, Alvarez V, Bullido MJ, Clarimon J, Garcia-Alberca JM, Mir P, Moreno F, Pastor P, Pinol-Ripoll G, Molina-Porcel L, Perez-Tur J, Rodriguez-Rodriguez E, Royo JL, Sanchez-Valle R, Dichgans M and Rujescu D
The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol
Lejeune C, Robert-Viard C, Meunier-Beillard N, Borel MA, Gourves L, Staraci S, Soilly AL, Guillemin F, Seror V, Achit H, Bouctot M, Asensio ML, Briffaut AS, Delmas C, Bruel AL, Benoit A, Simon A, Gerard B, Hadj Abdallah H, Lyonnet S, Faivre L, Thauvin-Robinet C, Odent S, Heron D, Sanlaville D, Frebourg T, Muller J, Duffourd Y, Boland A, Deleuze JF, Esperou H, Binquet C and Dollfus H
Distinct functional classes of PDGFRB pathogenic variants in primary familial brain calcification
Lenglez S, Sablon A, Fenelon G, Boland A, Deleuze JF, Boutoleau-Bretonniere C, Nicolas G and Demoulin JB
Different Pigmentation Risk Loci for High-Risk Monosomy 3 and Low-Risk Disomy 3 Uveal Melanomas
Mobuchon L, Derrien AC, Houy A, Verrier T, Pierron G, Cassoux N, Milder M, Deleuze JF, Boland A, Scelo G, Cancel-Tassin G, Cussenot O, Rodrigues M, Noirel J, Machiela MJ and Stern MH
iPSCs derived from infertile men carrying complex genetic abnormalities can generate primordial germ-like cells
Mouka A, Arkoun B, Moison P, Drevillon L, Jarray R, Brisset S, Mayeur A, Bouligand J, Boland-Auge A, Deleuze JF, Yates F, Lemonnier T, Callier P, Duffourd Y, Nitschke P, Ollivier E, Bourdin A, De Vos J, Livera G, Tachdjian G, Maouche-Chretien L and Tosca L
A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics
Nicolas G, Sevigny M, Lecoquierre F, Marguet F, Deschenes A, Del Pelaez MC, Feuillette S, Audebrand A, Lecourtois M, Rousseau S, Richard AC, Cassinari K, Deramecourt V, Duyckaerts C, Boland A, Deleuze JF, Meyer V, Clarimon Echavarria J, Gelpi E, Akiyama H, Hasegawa M, Kawakami I, Wong TH, Van Rooij JGJ, Van Swieten JC, Campion D, Dutchak PA, Wallon D, Lavoie-Cardinal F, Laquerriere A, Rovelet-Lecrux A and Sephton CF
Modifier genes in NF1: results of the first Genome-Wide Association Study in 1,333 patients
Pacot L, Sabbagh A, Parfait B, Boland-Auge A, Bacq-Daian D, Laurendeau I, Ferkal S, Briand-Suleau A, Allanore L, Deleuze JF, Vidaud M, Vidaud D, Wolkenstein P, Pasmant E and Network MNF
European Journal of Human Genetics 30 (Suppl 1), 596-596, 2022
Experimental evolution links post-transcriptional regulation to Leishmania fitness gain
Piel L, Rajan KS, Bussotti G, Varet H, Legendre R, Proux C, Douche T, Giai-Gianetto Q, Chaze T, Cokelaer T, Vojtkova B, Gordon-Bar N, Doniger T, Cohen-Chalamish S, Rengaraj P, Besse C, Boland A, Sadlova J, Deleuze JF, Matondo M, Unger R, Volf P, Michaeli S, Pescher P and Spath GF
Novel role of the synaptic scaffold protein Dlgap4 in ventricular surface integrity and neuronal migration during cortical development
Romero DM, Poirier K, Belvindrah R, Moutkine I, Houllier A, LeMoing AG, Petit F, Boland A, Collins SC, Soiza-Reilly M, Yalcin B, Chelly J, Deleuze JF, Bahi-Buisson N and Francis F
Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes
Schramm C, Charbonnier C, Zarea A, Lacour M, Wallon D, collaborators C, Boland A, Deleuze JF, Olaso R, consortium A, Alarcon F, Campion D, Nuel G and Nicolas G
Publisher Correction: Penetrance estimation of Alzheimer disease in SORL1 loss-of-function variant carriers using a family-based strategy and stratification by APOE genotypes
Schramm C, Charbonnier C, Zarea A, Lacour M, Wallon D, collaborators C, Boland A, Deleuze JF, Olaso R, consortium A, Alarcon F, Campion D, Nuel G and Nicolas G
Characterising Aggressive Pulmonary Carcinoids Through Integrative Omics Analysis Within the lungNENomics Project
Sexton-Oates A, Di Genova A, Mangiante L, Voegele C, Tabone-Eglinger S, Walter T, Ghantous A, Cuenin C, Nurnberg P, Altmuller J, Boland A, Deleuze JF, Speel EJ, Dingemans AM, Moonen L, Derks J, Dayton T, Damiola F, Girard N, Lantuejoul S, Alcala N, Foll M, Fernandez-Cuesta L and network Nl
Journal of Thoracic Oncology 17 (9), S45-S46, 2022
Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates
Szenker-Ravi E, Ott T, Khatoo M, de Bellaing AM, Goh WX, Chong YL, Beckers A, Kannesan D, Louvel G, Anujan P, Ravi V, Bonnard C, Moutton S, Schoen P, Fradin M, Colin E, Megarbane A, Daou L, Chehab G, Di Filippo S, Rooryck C, Deleuze JF, Boland A, Arribard N, Eker R, Tohari S, Ng AY, Rio M, Lim CT, Eisenhaber B, Eisenhaber F, Venkatesh B, Amiel J, Crollius HR, Gordon CT, Gossler A, Roy S, Attie-Bitach T, Blum M, Bouvagnet P and Reversade B
Publisher Correction: Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates
Szenker-Ravi E, Ott T, Khatoo M, de Bellaing AM, Goh WX, Chong YL, Beckers A, Kannesan D, Louvel G, Anujan P, Ravi V, Bonnard C, Moutton S, Schoen P, Fradin M, Colin E, Megarbane A, Daou L, Chehab G, Di Filippo S, Rooryck C, Deleuze JF, Boland A, Arribard N, Eker R, Tohari S, Ng AY, Rio M, Lim CT, Eisenhaber B, Eisenhaber F, Venkatesh B, Amiel J, Crollius HR, Gordon CT, Gossler A, Roy S, Attie-Bitach T, Blum M, Bouvagnet P and Reversade B
Cross-Ancestry Investigation of Venous Thromboembolism Genomic Predictors
Thibord F, Klarin D, Brody JA, Chen MH, Levin MG, Chasman DI, Goode EL, Hveem K, Teder-Laving M, Martinez-Perez A, Aissi D, Daian-Bacq D, Ito K, Natarajan P, Lutsey PL, Nadkarni GN, de Vries PS, Cuellar-Partida G, Wolford BN, Pattee JW, Kooperberg C, Braekkan SK, Li-Gao R, Saut N, Sept C, Germain M, Judy RL, Wiggins KL, Ko D, O'Donnell CJ, Taylor KD, Giulianini F, De Andrade M, Nost TH, Boland A, Empana JP, Koyama S, Gilliland T, Do R, Huffman JE, Wang X, Zhou W, Manuel Soria J, Carlos Souto J, Pankratz N, Haessler J, Hindberg K, Rosendaal FR, Turman C, Olaso R, Kember RL, Bartz TM, Lynch JA, Heckbert SR, Armasu SM, Brumpton B, Smadja DM, Jouven X, Komuro I, Clapham KR, Loos RJF, Willer CJ, Sabater-Lleal M, Pankow JS, Reiner AP, Morelli VM, Ridker PM, Vlieg AVH, Deleuze JF, Kraft P, Rader DJ, Global Biobank Meta-Analysis I, Estonian Biobank Research T, andMe Research T, Biobank J, Group CHW, Min Lee K, Psaty BM, Heidi Skogholt A, Emmerich J, Suchon P, Rich SS, Vy HMT, Tang W, Jackson RD, Hansen JB, Morange PE, Kabrhel C, Tregouet DA, Damrauer SM, Johnson AD and Smith NL
Circulation 146 (16), 1225-1242, 2022
Chr21 protein-protein interactions: enrichment in proteins involved in intellectual disability, autism, and late-onset Alzheimer's disease
Viard J, Loe-Mie Y, Daudin R, Khelfaoui M, Plancon C, Boland A, Tejedor F, Huganir RL, Kim E, Kinoshita M, Liu G, Haucke V, Moncion T, Yu E, Hindie V, Blehaut H, Mircher C, Herault Y, Deleuze JF, Rain JC, Simonneau M and Lepagnol-Bestel AM
Bi-allelic variants in DOHH, catalyzing the last step of hypusine biosynthesis, are associated with a neurodevelopmental disorder
Ziegler A, Steindl K, Hanner AS, Kumar Kar R, Prouteau C, Boland A, Deleuze JF, Coubes C, Bezieau S, Kury S, Maystadt I, Le Mao M, Lenaers G, Navet B, Faivre L, Tran Mau-Them F, Zanoni P, Chung WK, Rauch A, Bonneau D and Park MH
RNA sequencing of chronic GVHD skin lesions defines shared and unique inflammatory pathways characterizing lichen planus and morphea
Zouali H, Lemasson J, Calugareanu A, Battail C, Michonneau D, Le Buanec H, Grolleau C, Cassius C, Robin M, Merandet MM, Dobos G, Mahevas T, Rybojad M, de Masson A, Amode R, Boland A, Michel L, Sicre de Fontbrune F, Peffault de Latour R, Bruneval P, Ait-Oufella H, Battistella M, Jachiet M, Bagot M, Deleuze JF, Socie G and Bouaziz JD
Papua New Guinean genomes reveal the complex settlement of north Sahul
Brucato N, Andre M, Tsang R, Saag L, Kariwiga J, Sesuki K, Beni T, Pomat W, Muke J, Meyer V, Boland A, Deleuze JF, Sudoyo H, Mondal M, Pagani L, Romero IG, Metspalu M, Cox MP, Leavesley M and Ricaut FX
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 and Vabres P
Correction to: 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 and Vabres P
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
Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network
Denomme-Pichon AS, Vitobello A, Olaso R, Ziegler A, Jeanne M, Tran Mau-Them F, Couturier V, Racine C, Isidor B, Poe C, Jouan T, Boland A, Fin B, Bacq-Daian D, Besse C, Garde A, Prost A, Garret P, Tisserant E, Delanne J, Nambot S, Juven A, Gorce M, Nizon M, Vincent M, Moutton S, Fradin M, Lavillaureix A, Rollier P, Capri Y, Van-Gils J, Busa T, Sigaudy S, Pasquier L, Barth M, Bruel AL, Flamant C, Prouteau C, Bonneau D, Toutain A, Chantegret C, Callier P, Philippe C, Duffourd Y, Deleuze JF, Sorlin A, Faivre L and Thauvin-Robinet C
Gender specific airway gene expression in COPD sub-phenotypes supports a role of mitochondria and of different types of leukocytes
Esteve-Codina A, Hofer TP, Burggraf D, Heiss-Neumann MS, Gesierich W, Boland A, Olaso R, Bihoreau MT, Deleuze JF, Moeller W, Schmid O, Soler Artigas M, Renner K, Hohlfeld JM, Welte T, Fuehner T, Jerrentrup L, Koczulla AR, Greulich T, Prasse A, Muller-Quernheim J, Gupta S, Brightling C, Subramanian DR, Parr DG, Kolsum U, Gupta V, Barta I, Dome B, Strausz J, Stendardo M, Piattella M, Boschetto P, Korzybski D, Gorecka D, Nowinski A, Dabad M, Fernandez-Callejo M, Endesfelder D, Zu Castell W, Hiemstra PS, Venge P, Noessner E, Griebel T, Heath S, Singh D, Gut I and Ziegler-Heitbrock L
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
Transcriptome Analysis of Monocyte-Derived Dendritic Cells from Spondyloarthritis (Spa) Patients Reveals a Major Impact of B27 on Gene Expression
Hulot A, Jobart-Malfait A, Jolly A, Desjardin C, Chaplais E, Talpin A, Costantino F, Hue C, Grassin-Delyle S, Leboime A, Nahal RS, Boland A, Deleuze JF, Breban M and Garchon HJ
Clinical and Experimental Rheumatology 39 (5), 1197-1197, 2021
Molecular profiling of advanced soft-tissue sarcomas: the MULTISARC randomized trial
Italiano A, Dinart D, Soubeyran I, Bellera C, Esperou H, Delmas C, Mercier N, Albert S, Poignie L, Boland A, Bourdon A, Geneste D, Cavaille Q, Laizet Y, Khalifa E, Auzanneau C, Squiban B, Truffaux N, Olaso R, Gerber Z, Wallet C, Benard A, Blay JY, Laurent-Puig P, Deleuze JF, Lucchesi C, Mathoulin-Pelissier S and group Ms
Monocyte transcriptomes from patients with axial spondyloarthritis reveal dysregulated monocytopoiesis and a distinct inflammatory imprint
Karow F, Smiljanovic B, Grun JR, Poddubnyy D, Proft F, Talpin A, Hue C, Boland A, Deleuze JF, Garchon HJ, Ergenc I, De Craemer AS, Erben U, Haupl T, Elewaut D, Breban M, Grutzkau A and Syrbe U
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
Distinct functional classes of PDGFRB pathogenic variants in primary familial brain calcification
Lenglez S, Sablon A, Fenelon G, Boland A, Deleuze JF, Boutoleau-Bretonniere C, Nicolas G and Demoulin JB
Different Pigmentation Risk Loci for High-Risk Monosomy 3 and Low-Risk Disomy 3 Uveal Melanomas
Mobuchon L, Derrien AC, Houy A, Verrier T, Pierron G, Cassoux N, Milder M, Deleuze JF, Boland A, Scelo G, Cancel-Tassin G, Cussenot O, Rodrigues M, Noirel J, Machiela MJ and Stern MH
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
African Gene Flow Reduces Beta-Ionone Anosmia/Hyposmia Prevalence in Admixed Malagasy Populations
Razafindrazaka H, Pereda-Loth V, Ferdenzi C, Heiske M, Alva O, Randriamialisoa M, Costedoat C, Signoli M, Talou T, Courtade-Saidi M, Boland A, Deleuze JF, Rouby C, Radimilahy C, Letellier T, Bensafi M and Pierron D
An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism
Razzaq M, Iglesias MJ, Ibrahim-Kosta M, Goumidi L, Soukarieh O, Proust C, Roux M, Suchon P, Boland A, Daiain D, Olaso R, Havervall S, Thalin C, Butler L, Deleuze JF, Odeberg J, Morange PE and Tregouet DA
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
Heterozygous HMGB1 loss-of-function variants are associated with developmental delay and microcephaly
Uguen K, Krysiak K, Audebert-Bellanger S, Redon S, Benech C, Viora-Dupont E, Tran Mau-Them F, Rondeau S, Elsharkawi I, Granadillo JL, Neidich J, Soares CA, Tkachenko N, S MA, Engleman K, Boland A, Deleuze JF, Bezieau S, Odent S, Toutain A, Bonneau D, Gilbert-Dussardier B, Faivre L, Rio M, Le Marechal C, Ferec C, Repnikova E and Cao Y
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
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