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Items: 1 to 50 of 596

1.

Deciphering Cell Lineage Specification during Male Sex Determination with Single-Cell RNA Sequencing.

Stévant I, Neirijnck Y, Borel C, Escoffier J, Smith LB, Antonarakis SE, Dermitzakis ET, Nef S.

Cell Rep. 2018 Feb 6;22(6):1589-1599. doi: 10.1016/j.celrep.2018.01.043.

2.

Biallelic variants in KIF14 cause intellectual disability with microcephaly.

Makrythanasis P, Maroofian R, Stray-Pedersen A, Musaev D, Zaki MS, Mahmoud IG, Selim L, Elbadawy A, Jhangiani SN, Coban Akdemir ZH, Gambin T, Sorte HS, Heiberg A, McEvoy-Venneri J, James KN, Stanley V, Belandres D, Guipponi M, Santoni FA, Ahangari N, Tara F, Doosti M, Iwaszkiewicz J, Zoete V, Backe PH, Hamamy H, Gleeson JG, Lupski JR, Karimiani EG, Antonarakis SE.

Eur J Hum Genet. 2018 Mar;26(3):330-339. doi: 10.1038/s41431-017-0088-9. Epub 2018 Jan 17.

3.

Somatic Activating KRAS Mutations in Arteriovenous Malformations of the Brain.

Nikolaev SI, Vetiska S, Bonilla X, Boudreau E, Jauhiainen S, Rezai Jahromi B, Khyzha N, DiStefano PV, Suutarinen S, Kiehl TR, Mendes Pereira V, Herman AM, Krings T, Andrade-Barazarte H, Tung T, Valiante T, Zadeh G, Tymianski M, Rauramaa T, Ylä-Herttuala S, Wythe JD, Antonarakis SE, Frösen J, Fish JE, Radovanovic I.

N Engl J Med. 2018 Jan 18;378(3):250-261. doi: 10.1056/NEJMoa1709449. Epub 2018 Jan 3.

PMID:
29298116
4.

Congenital Neuronal Ceroid Lipofuscinosis with a Novel CTSD Gene Mutation: A Rare Cause of Neonatal-Onset Neurodegenerative Disorder.

Varvagiannis K, Hanquinet S, Billieux MH, De Luca R, Rimensberger P, Lidgren M, Guipponi M, Makrythanasis P, Blouin JL, Antonarakis SE, Steinfeld R, Kern I, Poretti A, Fluss J, Fokstuen S.

Neuropediatrics. 2018 Apr;49(2):150-153. doi: 10.1055/s-0037-1613681. Epub 2017 Dec 28.

PMID:
29284168
5.

Slightly deleterious genomic variants and transcriptome perturbations in Down syndrome embryonic selection.

Popadin K, Peischl S, Garieri M, Sailani MR, Letourneau A, Santoni F, Lukowski SW, Bazykin GA, Nikolaev S, Meyer D, Excoffier L, Reymond A, Antonarakis SE.

Genome Res. 2018 Jan;28(1):1-10. doi: 10.1101/gr.228411.117. Epub 2017 Dec 13.

PMID:
29237728
6.

The effect of genetic variation on promoter usage and enhancer activity.

Garieri M, Delaneau O, Santoni F, Fish RJ, Mull D, Carninci P, Dermitzakis ET, Antonarakis SE, Fort A.

Nat Commun. 2017 Nov 7;8(1):1358. doi: 10.1038/s41467-017-01467-7.

7.

Systematic proteome and proteostasis profiling in human Trisomy 21 fibroblast cells.

Liu Y, Borel C, Li L, Müller T, Williams EG, Germain PL, Buljan M, Sajic T, Boersema PJ, Shao W, Faini M, Testa G, Beyer A, Antonarakis SE, Aebersold R.

Nat Commun. 2017 Oct 31;8(1):1212. doi: 10.1038/s41467-017-01422-6.

8.

Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3.

Guo T, Repetto GM, McDonald McGinn DM, Chung JH, Nomaru H, Campbell CL, Blonska A, Bassett AS, Chow EWC, Mlynarski EE, Swillen A, Vermeesch J, Devriendt K, Gothelf D, Carmel M, Michaelovsky E, Schneider M, Eliez S, Antonarakis SE, Coleman K, Tomita-Mitchell A, Mitchell ME, Digilio MC, Dallapiccola B, Marino B, Philip N, Busa T, Kushan-Wells L, Bearden CE, Piotrowicz M, Hawuła W, Roberts AE, Tassone F, Simon TJ, van Duin EDA, van Amelsvoort TA, Kates WR, Zackai E, Johnston HR, Cutler DJ, Agopian AJ, Goldmuntz E, Mitchell LE, Wang T, Emanuel BS, Morrow BE; International 22q11.2 Consortium/Brain and Behavior Consortium*.

Circ Cardiovasc Genet. 2017 Oct;10(5). pii: e001690. doi: 10.1161/CIRCGENETICS.116.001690.

9.

The genomic landscape of human cellular circadian variation points to a novel role for the signalosome.

Gaspar L, Howald C, Popadin K, Maier B, Mauvoisin D, Moriggi E, Gutierrez-Arcelus M, Falconnet E, Borel C, Kunz D, Kramer A, Gachon F, Dermitzakis ET, Antonarakis SE, Brown SA.

Elife. 2017 Sep 4;6. pii: e24994. doi: 10.7554/eLife.24994.

10.

Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delay.

Ansar M, Riazuddin S, Sarwar MT, Makrythanasis P, Paracha SA, Iqbal Z, Khan J, Assir MZ, Hussain M, Razzaq A, Polla DL, Taj AS, Holmgren A, Batool N, Misceo D, Iwaszkiewicz J, de Brouwer APM, Guipponi M, Hanquinet S, Zoete V, Santoni FA, Frengen E, Ahmed J, Riazuddin S, van Bokhoven H, Antonarakis SE.

Genet Med. 2017 Aug 24. doi: 10.1038/gim.2017.113. [Epub ahead of print]

PMID:
28837161
11.

Germline PMS2 and somatic POLE exonuclease mutations cause hypermutability of the leading DNA strand in biallelic mismatch repair deficiency syndrome brain tumours.

Andrianova MA, Chetan GK, Sibin MK, Mckee T, Merkler D, Narasinga RK, Ribaux P, Blouin JL, Makrythanasis P, Seplyarskiy VB, Antonarakis SE, Nikolaev SI.

J Pathol. 2017 Nov;243(3):331-341. doi: 10.1002/path.4957. Epub 2017 Sep 28.

PMID:
28805995
12.

SERPINI1 pathogenic variants: An emerging cause of childhood-onset progressive myoclonic epilepsy.

Ranza E, Garcia-Tarodo S, Varvagiannis K, Guipponi M, Lobrinus JA, Bottani A, Kern I, Kurian M, Pittet MP, Antonarakis SE, Fluss J, Korff CM.

Am J Med Genet A. 2017 Sep;173(9):2456-2460. doi: 10.1002/ajmg.a.38317. Epub 2017 Jun 20.

PMID:
28631894
13.

Genomic databases: A WHO affair.

Antonarakis SE.

Science. 2017 May 26;356(6340):812-813. doi: 10.1126/science.aan4717. No abstract available.

PMID:
28546180
14.

No evidence for the presence of genetic variants predisposing to psychotic disorders on the non-deleted 22q11.2 allele of VCFS patients.

Guipponi M, Santoni F, Schneider M, Gehrig C, Bustillo XB, Kates WR, Morrow B, Armando M, Vicari S, Sloan-Béna F, Gagnebin M, Shashi V, Hooper SR, Eliez S, Antonarakis SE.

Transl Psychiatry. 2017 Feb 21;7(2):e1039. doi: 10.1038/tp.2016.258.

15.

Detection of Imprinted Genes by Single-Cell Allele-Specific Gene Expression.

Santoni FA, Stamoulis G, Garieri M, Falconnet E, Ribaux P, Borel C, Antonarakis SE.

Am J Hum Genet. 2017 Mar 2;100(3):444-453. doi: 10.1016/j.ajhg.2017.01.028. Epub 2017 Feb 9.

16.

MBV: a method to solve sample mislabeling and detect technical bias in large combined genotype and sequencing assay datasets.

Fort A, Panousis NI, Garieri M, Antonarakis SE, Lappalainen T, Dermitzakis ET, Delaneau O.

Bioinformatics. 2017 Jun 15;33(12):1895-1897. doi: 10.1093/bioinformatics/btx074.

PMID:
28186259
17.

X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.

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 JF, Garin A, Pin I, Vera G, Aurora P, Fassad MR, Jenkins L, Boustred C, Cullup T, Dixon M, Onoufriadis A, Bush A, Chung EM, Antonarakis SE, Loebinger MR, Wilson R, Armengot M, Escudier E, Hogg C; UK10K Rare Group, Amselem S, Sun Z, Bartoloni L, Blouin JL, Mitchison HM.

Nat Commun. 2017 Feb 8;8:14279. doi: 10.1038/ncomms14279.

18.

Down syndrome and the complexity of genome dosage imbalance.

Antonarakis SE.

Nat Rev Genet. 2017 Mar;18(3):147-163. doi: 10.1038/nrg.2016.154. Epub 2016 Dec 28. Review.

PMID:
28029161
19.

Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells.

Chen L, Ge B, Casale FP, Vasquez L, Kwan T, Garrido-Martín D, Watt S, Yan Y, Kundu K, Ecker S, Datta A, Richardson D, Burden F, Mead D, Mann AL, Fernandez JM, Rowlston S, Wilder SP, Farrow S, Shao X, Lambourne JJ, Redensek A, Albers CA, Amstislavskiy V, Ashford S, Berentsen K, Bomba L, Bourque G, Bujold D, Busche S, Caron M, Chen SH, Cheung W, Delaneau O, Dermitzakis ET, Elding H, Colgiu I, Bagger FO, Flicek P, Habibi E, Iotchkova V, Janssen-Megens E, Kim B, Lehrach H, Lowy E, Mandoli A, Matarese F, Maurano MT, Morris JA, Pancaldi V, Pourfarzad F, Rehnstrom K, Rendon A, Risch T, Sharifi N, Simon MM, Sultan M, Valencia A, Walter K, Wang SY, Frontini M, Antonarakis SE, Clarke L, Yaspo ML, Beck S, Guigo R, Rico D, Martens JHA, Ouwehand WH, Kuijpers TW, Paul DS, Stunnenberg HG, Stegle O, Downes K, Pastinen T, Soranzo N.

Cell. 2016 Nov 17;167(5):1398-1414.e24. doi: 10.1016/j.cell.2016.10.026.

20.

DNA Methylation Profiling of Uniparental Disomy Subjects Provides a Map of Parental Epigenetic Bias in the Human Genome.

Joshi RS, Garg P, Zaitlen N, Lappalainen T, Watson CT, Azam N, Ho D, Li X, Antonarakis SE, Brunner HG, Buiting K, Cheung SW, Coffee B, Eggermann T, Francis D, Geraedts JP, Gimelli G, Jacobson SG, Le Caignec C, de Leeuw N, Liehr T, Mackay DJ, Montgomery SB, Pagnamenta AT, Papenhausen P, Robinson DO, Ruivenkamp C, Schwartz C, Steiner B, Stevenson DA, Surti U, Wassink T, Sharp AJ.

Am J Hum Genet. 2016 Sep 1;99(3):555-566. doi: 10.1016/j.ajhg.2016.06.032. Epub 2016 Aug 25.

21.

Exome sequencing discloses KALRN homozygous variant as likely cause of intellectual disability and short stature in a consanguineous pedigree.

Makrythanasis P, Guipponi M, Santoni FA, Zaki M, Issa MY, Ansar M, Hamamy H, Antonarakis SE.

Hum Genomics. 2016 Jul 16;10(1):26. doi: 10.1186/s40246-016-0082-2.

22.

Experience of a multidisciplinary task force with exome sequencing for Mendelian disorders.

Fokstuen S, Makrythanasis P, Hammar E, Guipponi M, Ranza E, Varvagiannis K, Santoni FA, Albarca-Aguilera M, Poleggi ME, Couchepin F, Brockmann C, Mauron A, Hurst SA, Moret C, Gehrig C, Vannier A, Bevillard J, Araud T, Gimelli S, Stathaki E, Paoloni-Giacobino A, Bottani A, Sloan-Béna F, Sizonenko LD, Mostafavi M, Hamamy H, Nouspikel T, Blouin JL, Antonarakis SE.

Hum Genomics. 2016 Jun 28;10(1):24. doi: 10.1186/s40246-016-0080-4. Review.

23.

Pathogenic Variants in PIGG Cause Intellectual Disability with Seizures and Hypotonia.

Makrythanasis P, Kato M, Zaki MS, Saitsu H, Nakamura K, Santoni FA, Miyatake S, Nakashima M, Issa MY, Guipponi M, Letourneau A, Logan CV, Roberts N, Parry DA, Johnson CA, Matsumoto N, Hamamy H, Sheridan E, Kinoshita T, Antonarakis SE, Murakami Y.

Am J Hum Genet. 2016 Apr 7;98(4):615-26. doi: 10.1016/j.ajhg.2016.02.007. Epub 2016 Mar 17.

24.

Genomic analysis identifies new drivers and progression pathways in skin basal cell carcinoma.

Bonilla X, Parmentier L, King B, Bezrukov F, Kaya G, Zoete V, Seplyarskiy VB, Sharpe HJ, McKee T, Letourneau A, Ribaux PG, Popadin K, Basset-Seguin N, Ben Chaabene R, Santoni FA, Andrianova MA, Guipponi M, Garieri M, Verdan C, Grosdemange K, Sumara O, Eilers M, Aifantis I, Michielin O, de Sauvage FJ, Antonarakis SE, Nikolaev SI.

Nat Genet. 2016 Apr;48(4):398-406. doi: 10.1038/ng.3525. Epub 2016 Mar 7.

PMID:
26950094
25.

HGVS Recommendations for the Description of Sequence Variants: 2016 Update.

den Dunnen JT, Dalgleish R, Maglott DR, Hart RK, Greenblatt MS, McGowan-Jordan J, Roux AF, Smith T, Antonarakis SE, Taschner PE.

Hum Mutat. 2016 Jun;37(6):564-9. doi: 10.1002/humu.22981. Epub 2016 Mar 25.

PMID:
26931183
26.

APOBEC-induced mutations in human cancers are strongly enriched on the lagging DNA strand during replication.

Seplyarskiy VB, Soldatov RA, Popadin KY, Antonarakis SE, Bazykin GA, Nikolaev SI.

Genome Res. 2016 Feb;26(2):174-82. doi: 10.1101/gr.197046.115. Epub 2016 Jan 11.

27.

Corrigendum: Domains of genome-wide gene expression dysregulation in Down's syndrome.

Letourneau A, Santoni FA, Bonilla X, Sailani MR, Gonzalez D, Kind J, Chevalier C, Thurman R, Sandstrom RS, Hibaoui Y, Garieri M, Popadin K, Falconnet E, Gagnebin M, Gehrig C, Vannier A, Guipponi M, Farinelli L, Robyr D, Migliavacca E, Borel C, Deutsch S, Feki A, Stamatoyannopoulos JA, Herault Y, van Steensel B, Guigo R, Antonarakis SE.

Nature. 2016 Mar 17;531(7594):400. doi: 10.1038/nature16135. Epub 2015 Dec 2. No abstract available.

PMID:
26633627
28.

Pure Progressive Ataxia and Palatal Tremor (PAPT) Associated with a New Polymerase Gamma (POLG) Mutation.

Nicastro N, Ranza E, Antonarakis SE, Horvath J.

Cerebellum. 2016 Dec;15(6):829-831.

PMID:
26607151
29.

A Case of Wiedemann-Steiner Syndrome Associated with a 46,XY Disorder of Sexual Development and Gonadal Dysgenesis.

Calvel P, Kusz-Zamelczyk K, Makrythanasis P, Janecki D, Borel C, Conne B, Vannier A, Béna F, Gimelli S, Fichna P, Antonarakis SE, Nef S, Jaruzelska J.

Sex Dev. 2015;9(5):289-95. doi: 10.1159/000441512. Epub 2015 Nov 7.

PMID:
26544196
30.

Correction: Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes.

Guipponi M, Santoni FA, Setola V, Gehrig C, Rotharmel M, Cuenca M, Guillin O, Dikeos D, Georgantopoulos G, Papadimitriou G, Curtis L, Méary A, Schürhoff F, Jamain S, Avramopoulos D, Leboyer M, Rujescu D, Pulver A, Campion D, Siderovski DP, Antonarakis SE.

PLoS One. 2015 Oct 21;10(10):e0141630. doi: 10.1371/journal.pone.0141630. eCollection 2015. No abstract available.

31.

Data in brief: Transcriptome analysis of induced pluripotent stem cells from monozygotic twins discordant for trisomy 21.

Hibaoui Y, Grad I, Letourneau A, Santoni FA, Antonarakis SE, Feki A.

Genom Data. 2014 Aug 1;2:226-9. doi: 10.1016/j.gdata.2014.07.006. eCollection 2014 Dec.

32.

HIV-1 Nef promotes infection by excluding SERINC5 from virion incorporation.

Rosa A, Chande A, Ziglio S, De Sanctis V, Bertorelli R, Goh SL, McCauley SM, Nowosielska A, Antonarakis SE, Luban J, Santoni FA, Pizzato M.

Nature. 2015 Oct 8;526(7572):212-7. doi: 10.1038/nature15399. Epub 2015 Sep 30.

33.

CATCHing putative causative variants in consanguineous families.

Santoni FA, Makrythanasis P, Antonarakis SE.

BMC Bioinformatics. 2015 Sep 28;16:310. doi: 10.1186/s12859-015-0727-5.

34.

Familial epilepsy in Algeria: Clinical features and inheritance profiles.

Chentouf A, Dahdouh A, Guipponi M, Oubaiche ML, Chaouch M, Hamamy H, Antonarakis SE.

Seizure. 2015 Sep;31:12-8. doi: 10.1016/j.seizure.2015.06.015. Epub 2015 Jul 3.

35.

DNA-Methylation Patterns in Trisomy 21 Using Cells from Monozygotic Twins.

Sailani MR, Santoni FA, Letourneau A, Borel C, Makrythanasis P, Hibaoui Y, Popadin K, Bonilla X, Guipponi M, Gehrig C, Vannier A, Carre-Pigeon F, Feki A, Nizetic D, Antonarakis SE.

PLoS One. 2015 Aug 28;10(8):e0135555. doi: 10.1371/journal.pone.0135555. eCollection 2015.

36.

HSA21 Single-Minded 2 (Sim2) Binding Sites Co-Localize with Super-Enhancers and Pioneer Transcription Factors in Pluripotent Mouse ES Cells.

Letourneau A, Cobellis G, Fort A, Santoni F, Garieri M, Falconnet E, Ribaux P, Vannier A, Guipponi M, Carninci P, Borel C, Antonarakis SE.

PLoS One. 2015 May 8;10(5):e0126475. doi: 10.1371/journal.pone.0126475. eCollection 2015.

37.

Exome sequencing reveals pathogenic mutations in 91 strains of mice with Mendelian disorders.

Fairfield H, Srivastava A, Ananda G, Liu R, Kircher M, Lakshminarayana A, Harris BS, Karst SY, Dionne LA, Kane CC, Curtain M, Berry ML, Ward-Bailey PF, Greenstein I, Byers C, Czechanski A, Sharp J, Palmer K, Gudis P, Martin W, Tadenev A, Bogdanik L, Pratt CH, Chang B, Schroeder DG, Cox GA, Cliften P, Milbrandt J, Murray S, Burgess R, Bergstrom DE, Donahue LR, Hamamy H, Masri A, Santoni FA, Makrythanasis P, Antonarakis SE, Shendure J, Reinholdt LG.

Genome Res. 2015 Jul;25(7):948-57. doi: 10.1101/gr.186882.114. Epub 2015 Apr 27.

38.

Opposite phenotypes of muscle strength and locomotor function in mouse models of partial trisomy and monosomy 21 for the proximal Hspa13-App region.

Brault V, Duchon A, Romestaing C, Sahun I, Pothion S, Karout M, Borel C, Dembele D, Bizot JC, Messaddeq N, Sharp AJ, Roussel D, Antonarakis SE, Dierssen M, Hérault Y.

PLoS Genet. 2015 Mar 24;11(3):e1005062. doi: 10.1371/journal.pgen.1005062. eCollection 2015 Mar.

39.

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD).

Giorgio E, Robyr D, Spielmann M, Ferrero E, Di Gregorio E, Imperiale D, Vaula G, Stamoulis G, Santoni F, Atzori C, Gasparini L, Ferrera D, Canale C, Guipponi M, Pennacchio LA, Antonarakis SE, Brussino A, Brusco A.

Hum Mol Genet. 2015 Jun 1;24(11):3143-54. doi: 10.1093/hmg/ddv065. Epub 2015 Feb 20.

40.

Brief report: isogenic induced pluripotent stem cell lines from an adult with mosaic down syndrome model accelerated neuronal ageing and neurodegeneration.

Murray A, Letourneau A, Canzonetta C, Stathaki E, Gimelli S, Sloan-Bena F, Abrehart R, Goh P, Lim S, Baldo C, Dagna-Bricarelli F, Hannan S, Mortensen M, Ballard D, Syndercombe Court D, Fusaki N, Hasegawa M, Smart TG, Bishop C, Antonarakis SE, Groet J, Nizetic D.

Stem Cells. 2015 Jun;33(6):2077-84. doi: 10.1002/stem.1968.

41.

Galanin pathogenic mutations in temporal lobe epilepsy.

Guipponi M, Chentouf A, Webling KE, Freimann K, Crespel A, Nobile C, Lemke JR, Hansen J, Dorn T, Lesca G, Ryvlin P, Hirsch E, Rudolf G, Rosenberg DS, Weber Y, Becker F, Helbig I, Muhle H, Salzmann A, Chaouch M, Oubaiche ML, Ziglio S, Gehrig C, Santoni F, Pizzato M, Langel Ü, Antonarakis SE.

Hum Mol Genet. 2015 Jun 1;24(11):3082-91. doi: 10.1093/hmg/ddv060. Epub 2015 Feb 17.

PMID:
25691535
42.

Perturbations of heart development and function in cardiomyocytes from human embryonic stem cells with trisomy 21.

Bosman A, Letourneau A, Sartiani L, Del Lungo M, Ronzoni F, Kuziakiv R, Tohonen V, Zucchelli M, Santoni F, Guipponi M, Dumevska B, Hovatta O, Antonarakis SE, Jaconi ME.

Stem Cells. 2015 May;33(5):1434-46. doi: 10.1002/stem.1961.

43.

Tissue-specific effects of genetic and epigenetic variation on gene regulation and splicing.

Gutierrez-Arcelus M, Ongen H, Lappalainen T, Montgomery SB, Buil A, Yurovsky A, Bryois J, Padioleau I, Romano L, Planchon A, Falconnet E, Bielser D, Gagnebin M, Giger T, Borel C, Letourneau A, Makrythanasis P, Guipponi M, Gehrig C, Antonarakis SE, Dermitzakis ET.

PLoS Genet. 2015 Jan 29;11(1):e1004958. doi: 10.1371/journal.pgen.1004958. eCollection 2015 Jan.

44.

Biased allelic expression in human primary fibroblast single cells.

Borel C, Ferreira PG, Santoni F, Delaneau O, Fort A, Popadin KY, Garieri M, Falconnet E, Ribaux P, Guipponi M, Padioleau I, Carninci P, Dermitzakis ET, Antonarakis SE.

Am J Hum Genet. 2015 Jan 8;96(1):70-80. doi: 10.1016/j.ajhg.2014.12.001. Epub 2014 Dec 31.

45.

Recessive thrombocytopenia likely due to a homozygous pathogenic variant in the FYB gene: case report.

Hamamy H, Makrythanasis P, Al-Allawi N, Muhsin AA, Antonarakis SE.

BMC Med Genet. 2014 Dec 17;15:135. doi: 10.1186/s12881-014-0135-0.

46.

Gene age predicts the strength of purifying selection acting on gene expression variation in humans.

Popadin KY, Gutierrez-Arcelus M, Lappalainen T, Buil A, Steinberg J, Nikolaev SI, Lukowski SW, Bazykin GA, Seplyarskiy VB, Ioannidis P, Zdobnov EM, Dermitzakis ET, Antonarakis SE.

Am J Hum Genet. 2014 Dec 4;95(6):660-74. doi: 10.1016/j.ajhg.2014.11.003.

47.

Extrachromosomal driver mutations in glioblastoma and low-grade glioma.

Nikolaev S, Santoni F, Garieri M, Makrythanasis P, Falconnet E, Guipponi M, Vannier A, Radovanovic I, Bena F, Forestier F, Schaller K, Dutoit V, Clement-Schatlo V, Dietrich PY, Antonarakis SE.

Nat Commun. 2014 Dec 4;5:5690. doi: 10.1038/ncomms6690.

48.

Exome sequencing in 53 sporadic cases of schizophrenia identifies 18 putative candidate genes.

Guipponi M, Santoni FA, Setola V, Gehrig C, Rotharmel M, Cuenca M, Guillin O, Dikeos D, Georgantopoulos G, Papadimitriou G, Curtis L, Méary A, Schürhoff F, Jamain S, Avramopoulos D, Leboyer M, Rujescu D, Pulver A, Campion D, Siderovski DP, Antonarakis SE.

PLoS One. 2014 Nov 24;9(11):e112745. doi: 10.1371/journal.pone.0112745. eCollection 2014. Erratum in: PLoS One. 2015;10(10):e0141630.

49.

Exome sequencing reveals a mutation in DMP1 in a family with familial sclerosing bone dysplasia.

Gannagé-Yared MH, Makrythanasis P, Chouery E, Sobacchi C, Mehawej C, Santoni FA, Guipponi M, Antonarakis SE, Hamamy H, Mégarbané A.

Bone. 2014 Nov;68:142-5. doi: 10.1016/j.bone.2014.08.014. Epub 2014 Aug 30.

PMID:
25180662
50.

Frequent cases of RAS-mutated Down syndrome acute lymphoblastic leukaemia lack JAK2 mutations.

Nikolaev SI, Garieri M, Santoni F, Falconnet E, Ribaux P, Guipponi M, Murray A, Groet J, Giarin E, Basso G, Nizetic D, Antonarakis SE.

Nat Commun. 2014 Aug 8;5:4654. doi: 10.1038/ncomms5654.

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