Genomic and Immunotherapy Medical Institute
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Publications depuis 2016

Séquençage haut debit pangénomique en diagnostic

Publications dans le domaine de la génomique dans le cadre du transfert du SHD pangénomique en diagnostic :

Publications à l’initiative de l’institut

  • Nambot S*, Thevenon J*, Kuentz P, Duffourd Y, Tisserant E, Bruel A-L, Lehalle D, Mosca-Boidron A-L, Lefebvre M, Masurel-Paulet A, Jean-Marçais N, Vabres P, El Chehadeh S, St-Onge J, Jouan T, Chevarin M, Poé C, Vitobello A, Callier P, Rivière JB, Faivre L#, Thauvin-Robinet C#. Clinical whole-exome sequencing for the diagnosis of rare disorders with developmental anomalies: substantial interest of prospective annual pipeline update and reanalysis. Gen Med, en révision. (*# equally contributed to the work).
  • Bourchany A*, Thauvin-Robinet C*, Lehalle D, Masurel-Paulet A, Jean N, Nambot S, Willems M, Lambert L, El Chehadeh-Djebbar S, Schaefer E, Jacquette A, St-Onge J, Poe C, Jouan T, Callier P, Mosca-Boidron AL, Laurent N, Huet F, Chantegret C, Carmignac V, Tran-Mau-Them F, Philippe C, Vitobello A, Kuentz P, Duffourd Y, Rivière JB, Thevenon J*, Faivre L*. Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses. Am J Med Genet, en révision. (*# equally contributed to the work).
  • Thauvin-Robinet C, Thevenon J, Nambot S, Delanne J, Kuentz P, Bruel A, Chassagne A, Cretin E, Putois O, Pelissier A, Peyron C, Gautier E, Skrzypski J, Lehalle D, Jean-Marçais N, Callier P, Mosca-Boidron AL, Vabres P, Demougeot L, Poé C, Jouan T, Chevarin M, Lefebvre M, Bardou M, Tisserant E, Luu M, Binquet C, Deleuze JF, Verstuyft C, Duffourd Y, Faivre L. Secondary actionable findings identified by whole-exome sequencing: frequency and expected impact on the organization of care from the study of 700 consecutive tests. Gen Med, en révision.
  • Demougeot L, Houdayer F, Pélissier A, Mohrez F, Thevenon J, Rossi M, Sanlaville D, Peyron C, Thauvin-Robinet C, Faivre L. Les modifications de pratique clinique liées à l’arrivée du séquençage haut débit dans le diagnostic génétique des maladies du développement. Archives de pédiatrie, soumis.
  • Delanne J, Putois O, Chassagne A, Cretin E, Pelissier A, Peyron C, Gautier E, Thevenon J, Nambot S, Kuentz P, Bruel AL, Skrzypski J, Ghiringhelli F, Boidot R, Lehalle D, Jean-Marçais N, Callier P, Mosca-Boidron AL, Vabres P, Demougeot L, Poé C, Jouan T, Chevarin M, Lefebvre M, Bardou M, Tisserant E, Luu M, Binquet C, Duffourd Y, Thauvin-Robinet C, Faivre L. Les données secondaires issues du séquençage pangénomique : un premier pas vers la médecine génomique. Medecine Sciences, soumis.
  • Delanne J, Lecat M, Stumpel C, Kuentz P, Lehalle D, Stegmann S, Stevens S, Poé C, Thauvin-Robinet C,Gilissen C, Brunner H, Duffourd Y, Thevenon J, Faivre L. Only the genotype-first approach has permitted a diagnosis of BRWD3 mutations since the gene identification in 2007. Am J Med Genet, soumis.
  • Gauthier-Vasserot A, Thauvin-Robinet C, Bruel A-L, Duffourd Y, St-Onge J, Jouan T, Rivière J-B, Heron D, Donadieu J, Bellanné-Chantelot C, Briandet C, Huet F, Kuentz P, Lehalle D, Duplomb-Jego L, Gautier E, Maystadt I, Pinson L, Amram D, Chehadeh S El, Melki J, Julia S, Faivre L, Thevenon J. Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability. Am J Med Genet A. 2017;173:62-71.
  • Thevenon J, Duffourd Y, Masurel-Paulet A, Lefebvre M, Feillet F, Chehadeh-Djebbar S El, St-Onge J, Steinmetz A, Huet F, Chouchane M, Darmency-Stamboul V, Callier P, Thauvin-Robinet C, Faivre L, Rivière JB. Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test. Clin Genet. 2016;89:700-7.
  • Masurel-Paulet A, Piton A, Chancenotte S, Redin C, Thauvin-Robinet C, Henrenger Y, Minot D, Creppy A, Ruffier-Bourdet M, Thevenon J, Kuentz P, Lehalle D, Curie A, Blanchard G, Ghosn E, Bonnet M, Archimbaud-Devilliers M, Huet F, Perret O, Philip N, Mandel J-L, Faivre L. A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome. Am J Med Genet A. 2016;170(8):2103 10.

Publication en collaboration

  • Pinard A, Salgado D, Desvignes JP, Rai G, Hanna N, Arnaud P, Guien C, Martinez M, Faivre L, Jondeau G, Boileau C, Zaffran S, Béroud C, Collod-Béroud G. WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases. Hum Mutat. 2016;37(12):1308-1317.
  • Mallaret M, Renaud M, Redin C, Drouot N, Muller J, Severac F, Mandel JL, Hamza W, Benhassine T, Ali-Pacha L, Tazir M, Durr A, Monin ML, Mignot C, Charles P, Van Maldergem L, Chamard L, Thauvin-Robinet C, Laugel V, Burglen L, Calvas P, Fleury MC, Tranchant C, Anheim M, Koenig M. Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases. J Neurol. 2016;263(7):1314-22.

Travaux en lien avec le séquençage haut débit en recherche translationnelle 

Publications dans le domaine de la génomique dans le cadre de la recherche par l’identification de nouveaux gènes et corrélation phénotype/génotype :

Publications à l’initiative de l’institut

Impact factor >10

  • Assoum M, Philippe C, Isidor B, Perrin L, Makrythanasis P, Sondheimer N, Paris C, Douglas J, Lesca G, Antonarakis S, Hamamy H, Jouan T, Duffourd Y, Auvin S, Saunier A, Begtrup A, Nowak C, Chatron N, Ville D, Mireskandari K, Milani P, Jonveaux P, Lemeur G, Milh M, Amamoto M, Kato M, Nakashima M, Miyake N, Matsumoto N, Masri A, Thauvin-Robinet C, Rivière JB, Faivre L, Thevenon J. Autosomal-Recessive Mutations in AP3B2, Adaptor-Related Protein Complex 3 Beta 2 Subunit, Cause an Early-Onset Epileptic Encephalopathy with Optic Atrophy. Am J Hum Genet. 2016;99(6):1368-1376. IF :10.931
  • Lambacher* NJ, Bruel AL*, van Dam TJP, Szymańska K, Slaats GG, Kuhns S, McManus GJ, Kennedy JE, Gaff K, Man Wu K, van der Lee R, Burglen L, Doummar D, Rivière JB, Faivre L, Attié-Bitach T, Saunier S, Curd A, Peckham M, Giles RH, Johnson CA, Huynen MA#, Thauvin-Robinet C#, Blacque OE#. TMEM107 recruits ciliopathy proteins to anchored periodic subdomains of the ciliary transition zone membrane and is mutated in Joubert syndrome. Nat Cell Biol, 2016;18:122-31. *  equal contributors # co-corresponding authors. IF:18.699

Impact factor 3-10

  • Nambot S, Gavrilov D, Thevenon J, Bruel AL, Bainbridge M, Rio M, Goizet C, Rötig A, Jaeken J, Niu N, Xia F, Vital A, Houcinat N, Mochel F, Kuentz P, Lehalle D, Duffourd Y, Rivière JB, Thauvin-Robinet C, Beaudet AL, Faivre L. Further delineation of a rare recessive encephalomyopathy linked to mutations in GFER thanks to Data Sharing of whole exome sequencing data. Clin Genet. 2017 Feb 2. doi: 10.1111/cge.12985. IF: 3.892
  • Kuentz P, St-Onge J, Duffourd Y, Courcet JB, Carmignac V, Jouan T, Sorlin A, Abasq-Thomas C, Albuisson J, Amiel J, Amram D, Arpin S, Attie-Bitach T, Bahi-Buisson N, Barbarot S, Baujat G, Bessis D, Boccara O, Bonnière M, Boute O, Bursztejn AC, Chiaverini C, Cormier-Daire V, Coubes C, Delobel B, Edery P, Chehadeh SE, Francannet C, Geneviève D, Goldenberg A, Haye D, Isidor B, Jacquemont ML, Khau Van Kien P, Lacombe D, Martin L, Martinovic J, Maruani A, Mathieu-Dramard M, Mazereeuw-Hautier J, Michot C, Mignot C, Miquel J, Morice-Picard F, Petit F, Phan A, Rossi M, Touraine R, Verloes A, Vincent M, Vincent-Delorme C, Whalen S, Willems M, Marle N, Lehalle D, Thevenon J, Thauvin-Robinet C, Hadj-Rabia S, Faivre L, Vabres P, Rivière JB. Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing. Genet Med. 2017 Feb 2. doi: 10.1038/gim.2016.220. IF: 7.71
  • Lehalle D, Mosca-Boidron AL, Charles P, Cho M, Devinsky O, Duplomb-Jego L, Gilissen C, Jacquette A, Kuentz P, Masurel-Paulet A, Moutton S, Olivié H, Rauch A, Shears DJ, Rivière JB, Taylor Tavares AM, Thevenon J, Wendt K, Willemsen M, Wilson G, Zweier C, Callier P, Thauvin-Robinet C, Faivre. De novo mutation and deletion in STAG1 cause a novel cohesinopathy characterized by unspecific syndromic intellectual disability. J Med Genet, J Med Genet. 2017 Jan 24. pii: jmedgenet-2016-104468. doi: 10.1136/jmedgenet-2016-104468. IF: 5.65
  • El Chehadeh S, Kerstjens-Frederikse WS, Thevenon J, Kuentz P, Bruel AL, Thauvin-Robinet C, Bensignor C, Dollfus H, Laugel V, Rivière JB, Duffourd Y, Bonnet C, Robert MP, Isaiko R, Straub M, Creuzot-Garcher C, Calvas P, Chassaing N, Loeys B, Reyniers E, Vandeweyer G, Kooy F, Hančárová M, Havlovicová M, Prchalová D, Sedláček Z, Gilissen C, Pfundt R, Wassink-Ruiter JS, Faivre L. Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature. Eur J Hum Genet. 2016 Jan;25(1):43-51. IF:4.349
  • Mosca-Boidron A-L, Gueneau L, Huguet G, Goldenberg A, Henry C, Gigot N, Pallesi-Pocachard E, Falace A, Duplomb L, Thevenon J, Duffourd Y, St-Onge J, Chambon P, Rivière J-B, Thauvin-Robinet C, Callier P, Marle N, Payet M, Ragon C, Goubran Botros H, Buratti J, Calderari S, Dumas G, Delorme R, Lagarde N, Pinoit J-M, Rosier A, Masurel-Paulet A, Cardoso C, Mugneret F, Saugier-Veber P, Campion D, Faivre L, Bourgeron T. A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability. Eur J Hum Genet. 2016;24(6):838‑43. IF:4.580
  • Kuentz P, Mignot C, St-Onge J, Duffourd Y, Bonniaud B, Faivre L, Rivière J-B, Vabres P. Postzygotic BRAF p.Lys601Asn Mutation in Phacomatosis Pigmentokeratotica with Woolly Hair Nevus and Focal Cortical Dysplasia. J Invest Dermatol. 2016;136(5):1060‑2. IF:6.915
  • Kuentz P, Fraitag S, Gonzales M, Dhombres F, St-Onge J, Duffourd Y, Joyé N, Jouannic J-M, Picard A, Marle N, Thevenon J, Thauvin-Robinet C, Faivre L, Rivière J-B, Vabres P. Mosaic-activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus. Br J Dermatol. 2016; in press. IF:4.317
  • Thauvin-Robinet C, Duplomb-Jego L, Limoge F, Picot D, Masurel A, Terriat B, Champilou C, Minot D, St-Onge J, Kuentz P, Duffourd Y, Thevenon J, Rivière J-B, Faivre L. Homozygous FIBP nonsense variant responsible of syndromic overgrowth, with overgrowth, macrocephaly, retinal coloboma and learning disabilities. Clin Genet. 2016;89:e1-4. IF:3.892.
  • Saunier C, Støve SI, Popp B, Gérard B, Blenski M, AhMew N, de Bie C, Goldenberg P, Isidor B, Keren B, Leheup B, Lampert L, Mignot C, Tezcan K, Mancini GMS, Nava C, Wasserstein M, Bruel A-L, Thevenon J, Masurel A, Duffourd Y, Kuentz P, Huet F, Rivière J-B, van Slegtenhorst M, Faivre L, Piton A, Reis A, Arnesen T#, Thauvin-Robinet C#, Zweier C#. Expanding the Phenotype Associated with NAA10 Related N-terminal Acetylation Deficiency. Hum Mutat, 2016: 37(8):755-64. # equally contributors. IF:5.089
  • Thevenon J, Duplomb L, Phadke S, Eguether T, Saunier A, Avila M, Carmignac V, Bruel A-L, St-Onge J, Duffourd Y, Pazour GJ, Franco B, Attie-Bitach T, Masurel-Paulet A, Rivière J-B, Cormier-Daire V, Philippe C, Faivre L, Thauvin-Robinet C. Autosomal recessive IFT57 hypomorphic mutation cause ciliary transport defect in unclassified oral-facial-digital syndrome with short stature and brachymesophalangia. Clin Genet. 2016;90:509-517. IF:3.892.
  • Bruel A-L, Masurel-Paulet A, Rivière J-B, Duffourd Y, Lehalle D, Bensignor C, Huet F, Borgnon J, Roucher F, Kuentz P, Deleuze J-F, Thauvin-Robinet C, Faivre L, Thevenon J. Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis. Clin Genet. 2016; in press. IF:3.892.
  • Chevrier V, Bruel A-L, Van Dam TJP, Franco B, Scalzo M Lo, Lembo F, Audebert S, Baudelet E, Isnardon D, Bole A, Borg J-P, Kuentz P, Thevenon J, Burglen L, Faivre L, Rivière J-B, Huynen MA, Birnbaum D, Rosnet O, Thauvin-Robinet C. OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome. Hum Mol Genet. 2016;25(3):497-513. IF:5.985
  • Lefebvre M, Duffourd Y, Jouan T, Poe C, Jean-Marçais N, Verloes A, St-Onge J, Riviere JB, Petit F, Pierquin G, Deemer B, Callier P, Thauvin-Robinet C, Faivre L, Thevenon J.  Mutations in TBX6 cause Autosomal Recessive Spondylocostal Dysostosis. Clinical genetics, sous presse. IF:3.892
  • Sorlin A, Maruani A, Duffourd Y, Kuentz P, Saint-Onge J, Jouan T, Faivre L, Rivière JB, Vabres P. Postzygotic KITLG mutation in congenital non-progressive linear nevoid hyperpigmentation. Br J Dermatol, sous presse. IF:4.317

Impact factor < 3

  • Baurand A, Falcon-Eicher S, Laurent G, Villain E, Bonnet C, Thauvin-Robinet C, Jacquot C, Eicher JC, Gourraud JB, Schmitt S, Bézieau S, Giraud M, Dumont S, Kuentz P, Probst V, Burguet A, Kyndt F, Faivre L. Incomplete Timothy syndrome secondary to a mosaic mutation of the CACNA1C gene diagnosed using next-generation sequencing. Am J Med Genet A. 2016, sous presse. IF:2.159

Publications en collaboration

Impact factor >10

  • Carapito R, Konantz M, Paillard C, Miao Z, Pichot A, Alsaleh G, Naegely L, Kolmer A, Paul N, Hanauer A, Müller J, Alghisi E, Macquin C, Morlon A, Radosavljevic M, Chenard MP, Rialland F, Grain A, Eveillard M, Vincent M, Guy J, Faivre L, Thauvin-Robinet C, Thevenon J, Bottollier-Lemallaz E, Westhof E, Lengerke C, Isidor B, Bahram S. SRP54 mutations and Shwachman-Diamond Syndrome. Nat Genet, soumis. IF:31.616
  • Writzl K, Maver A, Kovacic L, Martinez-Valero P, Contreras L, Satrustegui J, Castori M, Faivre L, Lapunzina P, van Kuilenburg AB, Peterlin B, del Arco A, Hennekam RC. Gain-of-function Mutations in SLC25A24 Cause Early Aging, Bone Dysplasia, and Unusual Face (Fontaine – Petty syndrome). Nat comm, soumis. IF:11.329
  • Lu HC, Tan Q, Rousseaux MWC, Kim JY, Wan W, Yeh SY, Patel JM, Liu X, Lee Y, Fryer JD, Han J, Finnell R, Cho M, Ahimaz P, Yeboa KA, Lehalle D, Jean-Marcais N, Mosca-Boidron AL, Thevenon J, Cousins M, Bro D, Lanpher B, Klee E, Liu Z, Schaaf C, Zoghbi HY. Regionally distinct roles of ATXN1-CIC complex in ADHD and autism. Nat Genet, sous presse. IF:31.616
  • Olcese C, Patel MP, Shoemark A, Kiviluoto S, Legendre M, Williams HJ, Vaughan CK, Hayward J, Goldenberg A, Emes RD, Munye MM, Dyer L, Cahill T, Bevillard J, Gehrig C, Guipponi M, Chantot S, Duquesnoy P, Thomas L, Jeanson L, Copin B, Tamalet A, Thauvin-Robinet C, Papon J-F, Garin A, Pin I, Vera G, Aurora P, Fassad MR, Jenkins L, Boustred C, Cullup T, Dixon M, Onoufriadis A, Bush A, Chung EMK, Antonarakis SE, Loebinger MR, Wilson R, Armengot M, Escudier E, Hogg C, UK10K Rare Group, Amselem S, Sun Z, Bartoloni L, Blouin J-L, Mitchison HM. X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3. Nat Commun. 2017;8:14279. IF:11.329
  • Bauché S, O'Regan S, Azuma Y, Laffargue F, McMacken G, Sternberg D, Brochier G, Buon C, Bouzidi N, Topf A, Lacène E, Remerand G, Beaufrere AM, Pebrel-Richard C, Thevenon J, El Chehadeh-Djebbar S, Faivre L, Duffourd Y, Ricci F, Mongini T, Fiorillo C, Astrea G, Burloiu CM, Butoianu N, Sandu C, Servais L, Bonne G, Nelson I, Desguerre I, Nougues MC, Bœuf B, Romero N, Laporte J, Boland A, Lechner D, Deleuze JF, Fontaine B, Strochlic L, Lochmuller H, Eymard B, Mayer M, Nicole S. Impaired Presynaptic High-Affinity Choline Transporter Causes a Congenital Myasthenic Syndrome with Episodic Apnea. Am J Hum Genet. 2016;99(3):753-61. IF : 10.794
  • Dias C, Estruch SB, Graham SA, McRae J, Sawiak SJ, Hurst JA, Joss SK, Holder SE, Morton JE, Turner C, Thevenon J, Mellul K, Sánchez-Andrade G, Ibarra-Soria X, Deriziotis P, Santos RF, Lee SC, Faivre L, Kleefstra T, Liu P, Hurles ME; DDD Study., Fisher SE, Logan DW. BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription. Am J Hum Genet. 2016;99(2):253-74. IF : 10.794
  • Toriyama M, Lee C, Taylor SP, Duran I, Cohn DH, Bruel AL, Tabler JM, Drew K, Kelly MR, Kim S, Park TJ, Braun DA, Pierquin G, Biver A, Wagner K, Malfroot A, Panigrahi I, Franco B, Al-Lami HA, Yeung Y, Choi YJ; University of Washington Center for Mendelian Genomics., Duffourd Y, Faivre L, Rivière JB, Chen J, Liu KJ, Marcotte EM, Hildebrandt F, Thauvin-Robinet C, Krakow D, Jackson PK, Wallingford JB. The ciliopathy-associated CPLANE proteins direct basal body recruitment of intraflagellar transport machinery. Nat Genet. 2016;48(6):648-56. IF:31.616
  • Mercati O, Huguet G, Danckaert A, André-Leroux G, Maruani A, Bellinzoni M, Rolland T, Gouder L, Mathieu A, Buratti J, Amsellem F, Benabou M, Van-Gils J, Beggiato A, Konyukh M, Bourgeois JP, Gazzellone MJ, Yuen RK, Walker S, Delépine M, Boland A, Régnault B, Francois M, Van Den Abbeele T, Mosca-Boidron AL, Faivre L, Shimoda Y, Watanabe K, Bonneau D, Rastam M, Leboyer M, Scherer SW, Gillberg C, Delorme R, Cloëz-Tayarani I, Bourgeron T. CNTN6 mutations are risk factors for abnormal auditory sensory perception in autism spectrum disorders. Mol Psychiatry. 2016 May 10. doi: 10.1038/mp.2016.61 IF:13.314
  • Stessman HA, Willemsen MH, Fenckova M, Penn O, Hoischen A, Xiong B, Wang T, Hoekzema K, Vives L, Vogel I, Brunner HG, van der Burgt I, Ockeloen CW, Schuurs-Hoeijmakers JH, Klein Wassink-Ruiter JS, Stumpel C, Stevens SJ, Vles HS, Marcelis CM, van Bokhoven H, Cantagrel V, Colleaux L, Nicouleau M, Lyonnet S, Bernier RA, Gerdts J, Coe BP, Romano C, Alberti A, Grillo L, Scuderi C, Nordenskjöld M, Kvarnung M, Guo H, Xia K, Piton A, Gerard B, Genevieve D, Delobel B, Lehalle D, Perrin L, Prieur F, Thevenon J, Gecz J, Shaw M, Pfundt R, Keren B, Jacquette A, Schenck A, Eichler EE, Kleefstra T. Disruption of POGZ Is Associated with Intellectual Disability and Autism Spectrum Disorders. Am J Hum Genet. 2016;98:541-552. IF : 10.794

Impact factor 3-10

  • Mary L, Piton A, Schaefer E, Mattioli F, El Chehadeh S, Redin C, Faivre L, Geneviève D, Feger C, Colin F, Nourisson E, Coubes C, Flori E, Mandel JL, Gerard B, Giurgea I. TCF4  is a frequent cause of intellectual disability. Hum Mut, soumis. IF:5.089
  • Quartier A, Poquet H, Gilbert-Dussardier B, Rossi M, Casteleyn A-S, Portes V des, Feger C, Nourisson E, Kuentz P, Redin C, Thevenon J, Mosca-Boidron A-L, Callier P, Muller J, Lesca G, Huet F, Geoffroy V, Chehadeh S El, Jung M, Trojak B, Le Gras S, Lehalle D, Jost B, Maury S, Masurel A, Edery P, Thauvin-Robinet C, Gérard B, Mandel J-L, Faivre L, Piton A. Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome. Eur J Hum Genet. 8 févr 2017; IF: IF :4.58
  • Kuechler A, Czeschik JC, Graf E, Grasshoff U, Hüffmeier U, Busa T, Beck-Woedl S, Faivre L, Rivière J-B, Bader I, Koch J, Reis A, Hehr U, Rittinger O, Sperl W, Haack TB, Wieland T, Engels H, Prokisch H, Strom TM, Lüdecke H-J, Wieczorek D. Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. Eur J Hum Genet. 2017;25(2):183‑91. IF :4.58
  • Miguet M, Thevenon J, Laugel V, Lefebvre M, Bourchany A, Rivière J-B, Duffourd Y, Schaefer E, Antal MC, Abida R, Weingertner A-S, Kremer V, Vabres P, Morice-Picard F, Gonzales M, Lipsker D, Fraitag S, Mandel J-L, Chelly J, Dollfus H, Faivre L, Thauvin-Robinet C, Calmels N, Chehadeh S El. Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features. Prenat Diagn. 2016;36(13):1276‑9. IF:3.043
  • Pinard A, Salgado D, Desvignes JP, Rai G, Hanna N, Arnaud P, Guien C, Martinez M, Faivre L, Jondeau G, Boileau C, Zaffran S, Béroud C, Collod-Béroud G. WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases. Hum Mutat. 2016 Sep 20. doi: 10.1002/humu.23119. IF:5.089
  • Mallaret M, Renaud M, Redin C, Drouot N, Muller J, Severac F, Mandel JL, Hamza W, Benhassine T, Ali-Pacha L, Tazir M, Durr A, Monin ML, Mignot C, Charles P, Van Maldergem L, Chamard L, Thauvin-Robinet C, Laugel V, Burglen L, Calvas P, Fleury MC, Tranchant C, Anheim M, Koenig M. Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases. J Neurol. 2016;263(7):1314-22. IF:3.408
  • Amos JS, Huang L, Thevenon J, Kariminedjad A, Beaulieu CL, Masurel-Paulet A, Najmabadi H, Fattahi Z, Beheshtian M, Tonekaboni SH, Tang S, Helbig KL, Alcaraz W, Rivière JB, Faivre L, Innes AM, Lebel RR, Boycott KM. Autosomal recessive mutations in THOC6 cause intellectual disability: Syndrome delineation requiring forward and reverse phenotyping. Clin Genet. 2016 Apr 22. doi: 10.1111/cge.12793. IF: 3.892
  • Allou L, Julia S, Amsallem D, El Chehadeh S, Lambert L, Thevenon J, Duffourd Y, Saunier A, Bouquet P, Pere S, Moustaïne A, Ruaud L, Roth V, Jonveaux P, Philippe C. Rett-like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5-related disease. Clin Genet. 2016 Apr 7. doi: 10.1111/cge.12784. IF: 3.892
  • Li C, Jensen VL, Park K, Kennedy J, Garcia-Gonzalo FR, Romani M, De Mori R, Bruel A-L, Gaillard D, Doray B, Lopez E, Rivière J-B, Faivre L, Thauvin-Robinet C, Reiter JF, Blacque OE, Valente EM, Leroux MR. MKS5 and CEP290 Dependent Assembly Pathway of the Ciliary Transition Zone. PLoS Biol. 2016;14(3):e1002416. IF:8.668

Impact factor <3

  • Hamadou WS, Besbes S, Mani R, Bourdon V, Ben Youssef Y, Achour B, Regaieg H, Eisinger F, Mari V, Gesta P, Dreyfus H, Bonadona V, Dugast C, Zattara H, Faivre L, Noguchi T, Khélif A, Sobol H, Soua Z. ARLTS1, potential candidate gene in familial aggregation of hematological malignancies. Bull Cancer. 2017;104(2):123‑7. IF:0.706
  • Kambouris M, Thevenon J, Soldatos A, Cox A, Stephen J, Ben-Omran T, Al-Sarraj Y, Boulos H, Bone W, Mullikin JC, NISC Comparative Sequencing Program, Masurel-Paulet A, St-Onge J, Dufford Y, Chantegret C, Thauvin-Robinet C, Al-Alami J, Faivre L, Riviere JB, Gahl WA, Bassuk AG, Malicdan MCV, El-Shanti H. Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy. Ann Clin Transl Neurol. 2017;4(1):26 35.
  • Goldenberg A, Riccardi F, Tessier A, Pfundt R, Busa T, Cacciagli P, Capri Y, Coutton C, Delahaye-Duriez A, Frebourg T, Gatinois V, Guerrot AM, Genevieve D, Lecoquierre F, Jacquette A, Khau Van Kien P, Leheup B, Marlin S, Verloes A, Michaud V, Nadeau G, Mignot C, Parent P, Rossi M, Toutain A, Schaefer E, Thauvin-Robinet C, Van Maldergem L, Thevenon J, Satre V, Perrin L, Vincent-Delorme C, Sorlin A, Missirian C, Villard L, Mancini J, Saugier-Veber P, Philip N. Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11. Am J Med Genet A. 2016;170(11):2847-2859.
    IF:2.082

Oncologie

Publications de l’institut utilisant le séquençage haut débit / médecine personnalisée en oncologie

  • Kaderbhai CG, Boidot R, Beltjens F, Chevrier S, Arnould L, Favier L, Lagrange A, Coudert B, Ghiringhelli F. Use of dedicated gene panel sequencing using next generation sequencing to improve the personalized care of lung cancer.Oncotarget. 2016;7(17):24860-70.
  • Ghiringhelli F, Richard C, Chevrier S, Végran F, Boidot R. Efficiency of olaparib in colorectal cancer patients with an alteration of the homologous repair protein. World J Gastroenterol. 2016;22(48):10680-10686.
  • Eliade M, Skrzypski J, Baurand A, Jacquot C, Bertolone G, Loustalot C, Coutant C, Guy F, Fumoleau P, Duffourd Y, Arnould L, Delignette A, Padéano MM, Lepage C, Raichon-Patru G, Boudrant A, Bône-Lépinoy MC, Villing AL, Charpin A, Peignaux K, Chevrier S, Vegran F, Ghiringhelli F, Boidot R, Sevenet N, Lizard S, Faivre L. The transfer of multigene panel testing for hereditary breast and ovarian cancer to healthcare: What are the implications for the management of patients and families? Oncotarget. 2016 Oct 15. doi: 10.18632/oncotarget.12699.
  • Harlé A, Filhine-Trasarrieu P, Husson M, Boidot R, Rouyer M, Dubois C, Leroux A, Merlin JL. Rare RAS Mutations in Metastatic Colorectal Cancer Detected During Routine RAS Genotyping Using Next Generation Sequencing.Target ONcol. 2016;11(3):363-70.
  • Emadali A, Hoghoughi N, Duley S, Hajmirza A, Verhoeyen E, Cosset FL, Bertrand P, Roumier C, Roggy A, Suchaud-Martin C, Chauvet M, Bertrand S, Hamaidia S, Rousseaux S, Josserand V, Charles J, Templier I, Maeda T, Bruder-Costa J, Chaperot L, Plumas J, Jacob MC, Bonnefoix T, Park S, Gressin R, Tensen CP, Mecucci C, Macintyre E, Leroux D, Brambilla E, Nguyen-Khac F, Luquet I, Penther D, Bastard C, Jardin F, Lefebvre C, Garnache F, Callanan MB. Haploinsufficiency for NR3C1, the gene encoding the glucocorticoid receptor, in blastic plasmacytoid dendritic cell neoplasms. Blood. 2016;127(24):3040-53.
  • Boidot R, Chevrier S, Julie V, Ladoire S, Ghiringhelli F. HRAS G13D, a new mutation implicated in the resistance to anti-EGFR therapies in colorectal cancer, a case report. Int J Colorectal Dis. 2016;31(6):1245-6.

Publications collaboratives utilisant le séquençage haut débit / médecine personnalisée en oncologie

  • Sefrioui D, Vermeulin T, Blanchard F, Chapusot C, Beaussire L, Armengol-Debeir L, Sesboué R, Gangloff A, Hebbar M, Copin MC, Houivet E, Schwarz L, Clatot F, Tuech JJ, Bénichou J, Martin L, Bouvier AM, Sabourin JC, Sarafan-Vasseur N, Frébourg T, Lepage C, Michel P, Di Fiore F. Copy number variations in DCC/18q and ERBB2/17q are associated with disease-free survival in microsatellite stable colon cancer. Int J Cancer. 2017;140(7):1653-1661
  • Bielle F, Ducray F, Mokhtari K, Dehais C, Adle-Biassette H, Carpentier C, Chanut A, Polivka M, Poggioli S, Rosenberg S, Giry M, Marie Y, Duyckaerts C, Sanson M, Figarella-Branger D, Idbaih A; Pola Network. Tumor cells with neuronal intermediate progenitor features define a subgroup of 1p/19q co-deleted anaplastic gliomas. Brain Pathol. 2016 Aug 20. doi: 10.1111/bpa.12434.
  • Kamoun A, Idbaih A, Dehais C, Elarouci N, Carpentier C, Letouzé E, Colin C, Mokhtari K, Jouvet A, Uro-Coste E, Martin-Duverneuil N, Sanson M, Delattre JY, Figarella-Branger D, de Reyniès A, Ducray F; POLA network. Integrated multi-omics analysis of oligodendroglial tumours identifies three subgroups of 1p/19q co-deleted gliomas. Nat Commun. 2016;7:11263.
  • Draht MX, Smits KM, Jooste V, Tournier B, Vervoort M, Ramaekers C, Chapusot C, Weijenberg MP, van Engeland M, Melotte V. Analysis of RET promoter CpG island methylation using methylation-specific PCR (MSP), pyrosequencing, and methylation-sensitive high-resolution melting (MS-HRM): impact on stage II colon cancer patient outcome. Clin Epigenetics. 2016;8:44
  • Sinilnikova OM, Dondon M-G, Eon-Marchais S, Damiola F, Barjhoux L, Marcou M, Verny-Pierre C, Sornin V, Toulemonde L, Beauvallet J, Le Gal D, Mebirouk N, Belotti M, Caron O, Gauthier-Villars M, Coupier I, Buecher B, Lortholary A, Dugast C, Gesta P, Fricker J-P, Noguès C, Faivre L, Luporsi E, Berthet P, Delnatte C, Bonadona V, Maugard CM, Pujol P, Lasset C, Longy M, Bignon Y-J, Adenis C, Venat-Bouvet L, Demange L, Dreyfus H, Frenay M, Gladieff L, Mortemousque I, Audebert-Bellanger S, Soubrier F, Giraud S, Lejeune-Dumoulin S, Chevrier A, Limacher J-M, Chiesa J, Fajac A, Floquet A, Eisinger F, Tinat J, Colas C, Fert-Ferrer S, Penet C, Frebourg T, Collonge-Rame M-A, Barouk-Simonet E, Layet V, Leroux D, Cohen-Haguenauer O, Prieur F, Mouret-Fourme E, Cornélis F, Jonveaux P, Bera O, Cavaciuti E, Tardivon A, Lesueur F, Mazoyer S, Stoppa-Lyonnet D, Andrieu N. GENESIS: a French national resource to study the missing heritability of breast cancer. BMC Cancer. 2016;16:13.

Activités de l'institut