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Items: 1 to 50 of 143

1.

The Liberfarb syndrome, a multisystem disorder affecting eye, ear, bone, and brain development, is caused by a founder pathogenic variant in the PISD gene.

Peter VG, Quinodoz M, Pinto-Basto J, Sousa SB, Di Gioia SA, Soares G, Ferraz Leal G, Silva ED, Pescini Gobert R, Miyake N, Matsumoto N, Engle EC, Unger S, Shapiro F, Superti-Furga A, Rivolta C, Campos-Xavier B.

Genet Med. 2019 Jul 2. doi: 10.1038/s41436-019-0595-x. [Epub ahead of print]

PMID:
31263216
2.

A frequent variant in the Japanese population determines quasi-Mendelian inheritance of rare retinal ciliopathy.

Nikopoulos K, Cisarova K, Quinodoz M, Koskiniemi-Kuendig H, Miyake N, Farinelli P, Rehman AU, Khan MI, Prunotto A, Akiyama M, Kamatani Y, Terao C, Miya F, Ikeda Y, Ueno S, Fuse N, Murakami A, Wada Y, Terasaki H, Sonoda KH, Ishibashi T, Kubo M, Cremers FPM, Kutalik Z, Matsumoto N, Nishiguchi KM, Nakazawa T, Rivolta C.

Nat Commun. 2019 Jun 28;10(1):2884. doi: 10.1038/s41467-019-10746-4.

3.

Conjunctival Melanoma Targeted Therapy: MAPK and PI3K/mTOR Pathways Inhibition.

El Zaoui I, Bucher M, Rimoldi D, Nicolas M, Kaya G, Pescini Gobert R, Bedoni N, Schalenbourg A, Sakina E, Zografos L, Leyvraz S, Riggi N, Rivolta C, Moulin AP.

Invest Ophthalmol Vis Sci. 2019 Jun 3;60(7):2764-2772. doi: 10.1167/iovs.18-26508.

PMID:
31247083
4.

Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant.

Royer-Bertrand B, Tsouni P, Mullen P, Campos Xavier B, Mittaz Crettol L, Lobrinus AJ, Ghika J, Baumgartner MR, Rivolta C, Superti-Furga A, Kuntzer T, Francklyn C, Tran C.

Ann Clin Transl Neurol. 2019 May 24;6(6):1072-1080. doi: 10.1002/acn3.791. eCollection 2019 Jun.

5.

Expanded phenotypic spectrum of retinopathies associated with autosomal recessive and dominant mutations in PROM1.

Del Pozo-Valero M, Martin-Merida I, Jimenez-Rolando B, Arteche A, Avila-Fernandez A, Blanco-Kelly F, Riveiro-Alvarez R, Van Cauwenbergh C, De Baere E, Rivolta C, Garcia-Sandoval B, Corton M, Ayuso C.

Am J Ophthalmol. 2019 May 23. pii: S0002-9394(19)30244-2. doi: 10.1016/j.ajo.2019.05.014. [Epub ahead of print]

PMID:
31129250
6.

A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa.

Peter VG, Nikopoulos K, Quinodoz M, Granse L, Farinelli P, Superti-Furga A, Andréasson S, Rivolta C.

Ophthalmic Genet. 2019 Apr;40(2):177-181. doi: 10.1080/13816810.2019.1605391. Epub 2019 Apr 23.

PMID:
31012789
7.

Macular Dystrophy and Cone-Rod Dystrophy Caused by Mutations in the RP1 Gene: Extending the RP1 Disease Spectrum.

Verbakel SK, van Huet RAC, den Hollander AI, Geerlings MJ, Kersten E, Klevering BJ, Klaver CCW, Plomp AS, Wesseling NL, Bergen AAB, Nikopoulos K, Rivolta C, Ikeda Y, Sonoda KH, Wada Y, Boon CJF, Nakazawa T, Hoyng CB, Nishiguchi KM.

Invest Ophthalmol Vis Sci. 2019 Mar 1;60(4):1192-1203. doi: 10.1167/iovs.18-26084.

PMID:
30913292
8.

Mineralocorticoid receptor antagonism limits experimental choroidal neovascularization and structural changes associated with neovascular age-related macular degeneration.

Zhao M, Mantel I, Gelize E, Li X, Xie X, Arboleda A, Seminel M, Levy-Boukris R, Dernigoghossian M, Prunotto A, Andrieu-Soler C, Rivolta C, Canonica J, Naud MC, Lechner S, Farman N, Bravo-Osuna I, Herrero-Vanrell R, Jaisser F, Behar-Cohen F.

Nat Commun. 2019 Jan 21;10(1):369. doi: 10.1038/s41467-018-08125-6.

9.

Reciprocal modulation of mesenchymal stem cells and tumor cells promotes lung cancer metastasis.

Fregni G, Quinodoz M, Möller E, Vuille J, Galland S, Fusco C, Martin P, Letovanec I, Provero P, Rivolta C, Riggi N, Stamenkovic I.

EBioMedicine. 2018 Mar;29:128-145. doi: 10.1016/j.ebiom.2018.02.017. Epub 2018 Feb 23.

10.

A homozygous founder missense variant in arylsulfatase G abolishes its enzymatic activity causing atypical Usher syndrome in humans.

Khateb S, Kowalewski B, Bedoni N, Damme M, Pollack N, Saada A, Obolensky A, Ben-Yosef T, Gross M, Dierks T, Banin E, Rivolta C, Sharon D.

Genet Med. 2018 Sep;20(9):1004-1012. doi: 10.1038/gim.2017.227. Epub 2018 Jan 4.

PMID:
29300381
11.

Molecular analysis of thyroglobulin mutations found in patients with goiter and hypothyroidism.

Siffo S, Adrover E, Citterio CE, Miras MB, Balbi VA, Chiesa A, Weill J, Sobrero G, González VG, Papendieck P, Martinez EB, Gonzalez-Sarmiento R, Rivolta CM, Targovnik HM.

Mol Cell Endocrinol. 2018 Sep 15;473:1-16. doi: 10.1016/j.mce.2017.12.009. Epub 2017 Dec 22.

PMID:
29275168
12.

DOMINO: Using Machine Learning to Predict Genes Associated with Dominant Disorders.

Quinodoz M, Royer-Bertrand B, Cisarova K, Di Gioia SA, Superti-Furga A, Rivolta C.

Am J Hum Genet. 2017 Oct 5;101(4):623-629. doi: 10.1016/j.ajhg.2017.09.001.

13.

Iodide handling disorders (NIS, TPO, TG, IYD).

Targovnik HM, Citterio CE, Rivolta CM.

Best Pract Res Clin Endocrinol Metab. 2017 Mar;31(2):195-212. doi: 10.1016/j.beem.2017.03.006. Epub 2017 Apr 4. Review.

PMID:
28648508
14.

Corrigendum: NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

van Karnebeek CDM, Bonafé L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LAJ, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heisse T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A.

Nat Genet. 2017 May 26;49(6):969. doi: 10.1038/ng0617-969a. No abstract available.

PMID:
28546570
15.

[Transient congenital hypothyroidism due to biallelic defects of DUOX2 gene. Two clinical cases].

Enacán RE, Masnata ME, Belforte F, Papendieck P, Olcese MC, Siffo S, Gruñeiro-Papendieck L, Targovnik H, Rivolta CM, Chiesa AE.

Arch Argent Pediatr. 2017 Jun 1;115(3):e162-e165. doi: 10.5546/aap.2017.e162. Spanish.

16.

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility.

Bedoni N, Haer-Wigman L, Vaclavik V, Tran VH, Farinelli P, Balzano S, Royer-Bertrand B, El-Asrag ME, Bonny O, Ikonomidis C, Litzistorf Y, Nikopoulos K, Yioti GG, Stefaniotou MI, McKibbin M, Booth AP, Ellingford JM, Black GC, Toomes C, Inglehearn CF, Hoyng CB, Bax N, Klaver CC, Thiadens AA, Murisier F, Schorderet DF, Ali M, Cremers FP, Andréasson S, Munier FL, Rivolta C.

Hum Mol Genet. 2016 Oct 15;25(20):4546-4555. doi: 10.1093/hmg/ddw282.

17.

EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay.

Volpi S, Yamazaki Y, Brauer PM, van Rooijen E, Hayashida A, Slavotinek A, Sun Kuehn H, Di Rocco M, Rivolta C, Bortolomai I, Du L, Felgentreff K, Ott de Bruin L, Hayashida K, Freedman G, Marcovecchio GE, Capuder K, Rath P, Luche N, Hagedorn EJ, Buoncompagni A, Royer-Bertrand B, Giliani S, Poliani PL, Imberti L, Dobbs K, Poulain FE, Martini A, Manis J, Linhardt RJ, Bosticardo M, Rosenzweig SD, Lee H, Puck JM, Zúñiga-Pflücker JC, Zon L, Park PW, Superti-Furga A, Notarangelo LD.

J Exp Med. 2017 Mar 6;214(3):623-637. doi: 10.1084/jem.20161525. Epub 2017 Feb 1.

18.

OR2W3 sequence variants are unlikely to cause inherited retinal diseases.

Sharon D, Kimchi A, Rivolta C.

Ophthalmic Genet. 2016 Dec;37(4):366-368. Epub 2016 Feb 18. Review.

PMID:
26891008
19.

Comprehensive Genetic Landscape of Uveal Melanoma by Whole-Genome Sequencing.

Royer-Bertrand B, Torsello M, Rimoldi D, El Zaoui I, Cisarova K, Pescini-Gobert R, Raynaud F, Zografos L, Schalenbourg A, Speiser D, Nicolas M, Vallat L, Klein R, Leyvraz S, Ciriello G, Riggi N, Moulin AP, Rivolta C.

Am J Hum Genet. 2016 Nov 3;99(5):1190-1198. doi: 10.1016/j.ajhg.2016.09.008. Epub 2016 Oct 13.

20.

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects.

Nikopoulos K, Farinelli P, Giangreco B, Tsika C, Royer-Bertrand B, Mbefo MK, Bedoni N, Kjellström U, El Zaoui I, Di Gioia SA, Balzano S, Cisarova K, Messina A, Decembrini S, Plainis S, Blazaki SV, Khan MI, Micheal S, Boldt K, Ueffing M, Moulin AP, Cremers FPM, Roepman R, Arsenijevic Y, Tsilimbaris MK, Andréasson S, Rivolta C.

Am J Hum Genet. 2016 Sep 1;99(3):770-776. doi: 10.1016/j.ajhg.2016.07.009.

21.

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.

Coppieters F, Ascari G, Dannhausen K, Nikopoulos K, Peelman F, Karlstetter M, Xu M, Brachet C, Meunier I, Tsilimbaris MK, Tsika C, Blazaki SV, Vergult S, Farinelli P, Van Laethem T, Bauwens M, De Bruyne M, Chen R, Langmann T, Sui R, Meire F, Rivolta C, Hamel CP, Leroy BP, De Baere E.

Am J Hum Genet. 2016 Aug 4;99(2):470-80. doi: 10.1016/j.ajhg.2016.06.017.

22.

Correction: The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.

Winkler TW, Justice AE, Graff M, Barata L, Feitosa MF, Chu S, Czajkowski J, Esko T, Fall T, Kilpeläinen TO, Lu Y, Mägi R, Mihailov E, Pers TH, Rüeger S, Teumer A, Ehret GB, Ferreira T, Heard-Costa NL, Karjalainen J, Lagou V, Mahajan A, Neinast MD, Prokopenko I, Simino J, Teslovich TM, Jansen R, Westra HJ, White CC, Absher D, Ahluwalia TS, Ahmad S, Albrecht E, Alves AC, Bragg-Gresham JL, de Craen AJ, Bis JC, Bonnefond A, Boucher G, Cadby G, Cheng YC, Chiang CW, Delgado G, Demirkan A, Dueker N, Eklund N, Eiriksdottir G, Eriksson J, Feenstra B, Fischer K, Frau F, Galesloot TE, Geller F, Goel A, Gorski M, Grammer TB, Gustafsson S, Haitjema S, Hottenga JJ, Huffman JE, Jackson AU, Jacobs KB, Johansson Å, Kaakinen M, Kleber ME, Lahti J, Mateo Leach I, Lehne B, Liu Y, Lo KS, Lorentzon M, Luan J, Madden PA, Mangino M, McKnight B, Medina-Gomez C, Monda KL, Montasser ME, Müller G, Müller-Nurasyid M, Nolte IM, Panoutsopoulou K, Pascoe L, Paternoster L, Rayner NW, Renström F, Rizzi F, Rose LM, Ryan KA, Salo P, Sanna S, Scharnagl H, Shi J, Smith AV, Southam L, Stančáková A, Steinthorsdottir V, Strawbridge RJ, Sung YJ, Tachmazidou I, Tanaka T, Thorleifsson G, Trompet S, Pervjakova N, Tyrer JP, Vandenput L, van der Laan SW, van der Velde N, van Setten J, van Vliet-Ostaptchouk JV, Verweij N, Vlachopoulou E, Waite LL, Wang SR, Wang Z, Wild SH, Willenborg C, Wilson JF, Wong A, Yang J, Yengo L, Yerges-Armstrong LM, Yu L, Zhang W, Zhao JH, Andersson EA, Bakker SJ, Baldassarre D, Banasik K, Barcella M, Barlassina C, Bellis C, Benaglio P, Blangero J, Blüher M, Bonnet F, Bonnycastle LL, Boyd HA, Bruinenberg M, Buchman AS, Campbell H, Chen YI, Chines PS, Claudi-Boehm S, Cole J, Collins FS, de Geus EJ, de Groot LC, Dimitriou M, Duan J, Enroth S, Eury E, Farmaki AE, Forouhi NG, Friedrich N, Gejman PV, Gigante B, Glorioso N, Go AS, Gottesman O, Gräßler J, Grallert H, Grarup N, Gu YM, Broer L, Ham AC, Hansen T, Harris TB, Hartman CA, Hassinen M, Hastie N, Hattersley AT, Heath AC, Henders AK, Hernandez D, Hillege H, Holmen O, Hovingh KG, Hui J, Husemoen LL, Hutri-Kähönen N, Hysi PG, Illig T, De Jager PL, Jalilzadeh S, Jørgensen T, Jukema JW, Juonala M, Kanoni S, Karaleftheri M, Khaw KT, Kinnunen L, Kittner SJ, Koenig W, Kolcic I, Kovacs P, Krarup NT, Kratzer W, Krüger J, Kuh D, Kumari M, Kyriakou T, Langenberg C, Lannfelt L, Lanzani C, Lotay V, Launer LJ, Leander K, Lindström J, Linneberg A, Liu YP, Lobbens S, Luben R, Lyssenko V, Männistö S, Magnusson PK, McArdle WL, Menni C, Merger S, Milani L, Montgomery GW, Morris AP, Narisu N, Nelis M, Ong KK, Palotie A, Pérusse L, Pichler I, Pilia MG, Pouta A, Rheinberger M, Ribel-Madsen R, Richards M, Rice KM, Rice TK, Rivolta C, Salomaa V, Sanders AR, Sarzynski MA, Scholtens S, Scott RA, Scott WR, Sebert S, Sengupta S, Sennblad B, Seufferlein T, Silveira A, Slagboom PE, Smit JH, Sparsø TH, Stirrups K, Stolk RP, Stringham HM, Swertz MA, Swift AJ, Syvänen AC, Tan ST, Thorand B, Tönjes A, Tremblay A, Tsafantakis E, van der Most PJ, Völker U, Vohl MC, Vonk JM, Waldenberger M, Walker RW, Wennauer R, Widén E, Willemsen G, Wilsgaard T, Wright AF, Zillikens MC, van Dijk SC, van Schoor NM, Asselbergs FW, de Bakker PI, Beckmann JS, Beilby J, Bennett DA, Bergman RN, Bergmann S, Böger CA, Boehm BO, Boerwinkle E, Boomsma DI, Bornstein SR, Bottinger EP, Bouchard C, Chambers JC, Chanock SJ, Chasman DI, Cucca F, Cusi D, Dedoussis G, Erdmann J, Eriksson JG, Evans DA, de Faire U, Farrall M, Ferrucci L, Ford I, Franke L, Franks PW, Froguel P, Gansevoort RT, Gieger C, Grönberg H, Gudnason V, Gyllensten U, Hall P, Hamsten A, van der Harst P, Hayward C, Heliövaara M, Hengstenberg C, Hicks AA, Hingorani A, Hofman A, Hu F, Huikuri HV, Hveem K, James AL, Jordan JM, Jula A, Kähönen M, Kajantie E, Kathiresan S, Kiemeney LA, Kivimaki M, Knekt PB, Koistinen HA, Kooner JS, Koskinen S, Kuusisto J, Maerz W, Martin NG, Laakso M, Lakka TA, Lehtimäki T, Lettre G, Levinson DF, Lind L, Lokki ML, Mäntyselkä P, Melbye M, Metspalu A, Mitchell BD, Moll FL, Murray JC, Musk AW, Nieminen MS, Njølstad I, Ohlsson C, Oldehinkel AJ, Oostra BA, Palmer LJ, Pankow JS, Pasterkamp G, Pedersen NL, Pedersen O, Penninx BW, Perola M, Peters A, Polašek O, Pramstaller PP, Psaty BM, Qi L, Quertermous T, Raitakari OT, Rankinen T, Rauramaa R, Ridker PM, Rioux JD, Rivadeneira F, Rotter JI, Rudan I, den Ruijter HM, Saltevo J, Sattar N, Schunkert H, Schwarz PE, Shuldiner AR, Sinisalo J, Snieder H, Sørensen TI, Spector TD, Staessen JA, Stefania B, Thorsteinsdottir U, Stumvoll M, Tardif JC, Tremoli E, Tuomilehto J, Uitterlinden AG, Uusitupa M, Verbeek AL, Vermeulen SH, Viikari JS, Vitart V, Völzke H, Vollenweider P, Waeber G, Walker M, Wallaschofski H, Wareham NJ, Watkins H, Zeggini E; arcOGEN Consortium; CHARGE Consortium; DIAGRAM Consortium; GLGC Consortium; Global-BPGen Consortium; ICBP Consortium; MAGIC Consortium, Chakravarti A, Clegg DJ, Cupples LA, Gordon-Larsen P, Jaquish CE, Rao DC, Abecasis GR, Assimes TL, Barroso I, Berndt SI, Boehnke M, Deloukas P, Fox CS, Groop LC, Hunter DJ, Ingelsson E, Kaplan RC, McCarthy MI, Mohlke KL, O'Connell JR, Schlessinger D, Strachan DP, Stefansson K, van Duijn CM, Hirschhorn JN, Lindgren CM, Heid IM, North KE, Borecki IB, Kutalik Z, Loos RJ.

PLoS Genet. 2016 Jun 29;12(6):e1006166. doi: 10.1371/journal.pgen.1006166. eCollection 2016 Jun.

23.

Cortical-Bone Fragility--Insights from sFRP4 Deficiency in Pyle's Disease.

Kiper POS, Saito H, Gori F, Unger S, Hesse E, Yamana K, Kiviranta R, Solban N, Liu J, Brommage R, Boduroglu K, Bonafé L, Campos-Xavier B, Dikoglu E, Eastell R, Gossiel F, Harshman K, Nishimura G, Girisha KM, Stevenson BJ, Takita H, Rivolta C, Superti-Furga A, Baron R.

N Engl J Med. 2016 Jun 30;374(26):2553-2562. doi: 10.1056/NEJMoa1509342.

24.

NANS-mediated synthesis of sialic acid is required for brain and skeletal development.

van Karnebeek CD, Bonafé L, Wen XY, Tarailo-Graovac M, Balzano S, Royer-Bertrand B, Ashikov A, Garavelli L, Mammi I, Turolla L, Breen C, Donnai D, Cormier-Daire V, Heron D, Nishimura G, Uchikawa S, Campos-Xavier B, Rossi A, Hennet T, Brand-Arzamendi K, Rozmus J, Harshman K, Stevenson BJ, Girardi E, Superti-Furga G, Dewan T, Collingridge A, Halparin J, Ross CJ, Van Allen MI, Rossi A, Engelke UF, Kluijtmans LA, van der Heeft E, Renkema H, de Brouwer A, Huijben K, Zijlstra F, Heise T, Boltje T, Wasserman WW, Rivolta C, Unger S, Lefeber DJ, Wevers RA, Superti-Furga A.

Nat Genet. 2016 Jul;48(7):777-84. doi: 10.1038/ng.3578. Epub 2016 May 23. Erratum in: Nat Genet. 2017 May 26;49(6):969.

25.

A Comprehensive Analysis of Choroideremia: From Genetic Characterization to Clinical Practice.

Sanchez-Alcudia R, Garcia-Hoyos M, Lopez-Martinez MA, Sanchez-Bolivar N, Zurita O, Gimenez A, Villaverde C, Rodrigues-Jacy da Silva L, Corton M, Perez-Carro R, Torriano S, Kalatzis V, Rivolta C, Avila-Fernandez A, Lorda I, Trujillo-Tiebas MJ, Garcia-Sandoval B, Lopez-Molina MI, Blanco-Kelly F, Riveiro-Alvarez R, Ayuso C.

PLoS One. 2016 Apr 12;11(4):e0151943. doi: 10.1371/journal.pone.0151943. eCollection 2016.

26.

Correction: Exome Sequencing of Index Patients with Retinal Dystrophies as a Tool for Molecular Diagnosis.

Corton M, Nishiguchi KM, Avila-Fernández A, Nikopoulos K, Riveiro-Alvarez R, Tatu SD, Ayuso C, Rivolta C.

PLoS One. 2016 Mar 31;11(3):e0153121. doi: 10.1371/journal.pone.0153121. eCollection 2016. No abstract available.

27.

Brief Report: Peripheral Osteolysis in Adults Linked to ASAH1 (Acid Ceramidase) Mutations: A New Presentation of Farber's Disease.

Bonafé L, Kariminejad A, Li J, Royer-Bertrand B, Garcia V, Mahdavi S, Bozorgmehr B, Lachman RL, Mittaz-Crettol L, Campos-Xavier B, Nampoothiri S, Unger S, Rivolta C, Levade T, Superti-Furga A.

Arthritis Rheumatol. 2016 Sep;68(9):2323-7. doi: 10.1002/art.39659. Epub 2016 Jul 29.

28.

Transcriptional regulation of PRPF31 gene expression by MSR1 repeat elements causes incomplete penetrance in retinitis pigmentosa.

Rose AM, Shah AZ, Venturini G, Krishna A, Chakravarti A, Rivolta C, Bhattacharya SS.

Sci Rep. 2016 Jan 19;6:19450. doi: 10.1038/srep19450.

29.

UV light signature in conjunctival melanoma; not only skin should be protected from solar radiation.

Rivolta C, Royer-Bertrand B, Rimoldi D, Schalenbourg A, Zografos L, Leyvraz S, Moulin A.

J Hum Genet. 2016 Apr;61(4):361-2. doi: 10.1038/jhg.2015.152. Epub 2015 Dec 10. No abstract available.

30.

Mutations in the heat-shock protein A9 (HSPA9) gene cause the EVEN-PLUS syndrome of congenital malformations and skeletal dysplasia.

Royer-Bertrand B, Castillo-Taucher S, Moreno-Salinas R, Cho TJ, Chae JH, Choi M, Kim OH, Dikoglu E, Campos-Xavier B, Girardi E, Superti-Furga G, Bonafé L, Rivolta C, Unger S, Superti-Furga A.

Sci Rep. 2015 Nov 24;5:17154. doi: 10.1038/srep17154.

31.

Compound heterozygous DUOX2 gene mutations (c.2335-1G>C/c.3264_3267delCAGC) associated with congenital hypothyroidism. Characterization of complex cryptic splice sites by minigene analysis.

Belforte FS, Citterio CE, Testa G, Olcese MC, Sobrero G, Miras MB, Targovnik HM, Rivolta CM.

Mol Cell Endocrinol. 2016 Jan 5;419:172-84. doi: 10.1016/j.mce.2015.10.014. Epub 2015 Oct 24.

PMID:
26506010
32.

The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study.

Winkler TW, Justice AE, Graff M, Barata L, Feitosa MF, Chu S, Czajkowski J, Esko T, Fall T, Kilpeläinen TO, Lu Y, Mägi R, Mihailov E, Pers TH, Rüeger S, Teumer A, Ehret GB, Ferreira T, Heard-Costa NL, Karjalainen J, Lagou V, Mahajan A, Neinast MD, Prokopenko I, Simino J, Teslovich TM, Jansen R, Westra HJ, White CC, Absher D, Ahluwalia TS, Ahmad S, Albrecht E, Alves AC, Bragg-Gresham JL, de Craen AJ, Bis JC, Bonnefond A, Boucher G, Cadby G, Cheng YC, Chiang CW, Delgado G, Demirkan A, Dueker N, Eklund N, Eiriksdottir G, Eriksson J, Feenstra B, Fischer K, Frau F, Galesloot TE, Geller F, Goel A, Gorski M, Grammer TB, Gustafsson S, Haitjema S, Hottenga JJ, Huffman JE, Jackson AU, Jacobs KB, Johansson Å, Kaakinen M, Kleber ME, Lahti J, Mateo Leach I, Lehne B, Liu Y, Lo KS, Lorentzon M, Luan J, Madden PA, Mangino M, McKnight B, Medina-Gomez C, Monda KL, Montasser ME, Müller G, Müller-Nurasyid M, Nolte IM, Panoutsopoulou K, Pascoe L, Paternoster L, Rayner NW, Renström F, Rizzi F, Rose LM, Ryan KA, Salo P, Sanna S, Scharnagl H, Shi J, Smith AV, Southam L, Stančáková A, Steinthorsdottir V, Strawbridge RJ, Sung YJ, Tachmazidou I, Tanaka T, Thorleifsson G, Trompet S, Pervjakova N, Tyrer JP, Vandenput L, van der Laan SW, van der Velde N, van Setten J, van Vliet-Ostaptchouk JV, Verweij N, Vlachopoulou E, Waite LL, Wang SR, Wang Z, Wild SH, Willenborg C, Wilson JF, Wong A, Yang J, Yengo L, Yerges-Armstrong LM, Yu L, Zhang W, Zhao JH, Andersson EA, Bakker SJ, Baldassarre D, Banasik K, Barcella M, Barlassina C, Bellis C, Benaglio P, Blangero J, Blüher M, Bonnet F, Bonnycastle LL, Boyd HA, Bruinenberg M, Buchman AS, Campbell H, Chen YD, Chines PS, Claudi-Boehm S, Cole J, Collins FS, de Geus EJ, de Groot LC, Dimitriou M, Duan J, Enroth S, Eury E, Farmaki AE, Forouhi NG, Friedrich N, Gejman PV, Gigante B, Glorioso N, Go AS, Gottesman O, Gräßler J, Grallert H, Grarup N, Gu YM, Broer L, Ham AC, Hansen T, Harris TB, Hartman CA, Hassinen M, Hastie N, Hattersley AT, Heath AC, Henders AK, Hernandez D, Hillege H, Holmen O, Hovingh KG, Hui J, Husemoen LL, Hutri-Kähönen N, Hysi PG, Illig T, De Jager PL, Jalilzadeh S, Jørgensen T, Jukema JW, Juonala M, Kanoni S, Karaleftheri M, Khaw KT, Kinnunen L, Kittner SJ, Koenig W, Kolcic I, Kovacs P, Krarup NT, Kratzer W, Krüger J, Kuh D, Kumari M, Kyriakou T, Langenberg C, Lannfelt L, Lanzani C, Lotay V, Launer LJ, Leander K, Lindström J, Linneberg A, Liu YP, Lobbens S, Luben R, Lyssenko V, Männistö S, Magnusson PK, McArdle WL, Menni C, Merger S, Milani L, Montgomery GW, Morris AP, Narisu N, Nelis M, Ong KK, Palotie A, Pérusse L, Pichler I, Pilia MG, Pouta A, Rheinberger M, Ribel-Madsen R, Richards M, Rice KM, Rice TK, Rivolta C, Salomaa V, Sanders AR, Sarzynski MA, Scholtens S, Scott RA, Scott WR, Sebert S, Sengupta S, Sennblad B, Seufferlein T, Silveira A, Slagboom PE, Smit JH, Sparsø TH, Stirrups K, Stolk RP, Stringham HM, Swertz MA, Swift AJ, Syvänen AC, Tan ST, Thorand B, Tönjes A, Tremblay A, Tsafantakis E, van der Most PJ, Völker U, Vohl MC, Vonk JM, Waldenberger M, Walker RW, Wennauer R, Widén E, Willemsen G, Wilsgaard T, Wright AF, Zillikens MC, van Dijk SC, van Schoor NM, Asselbergs FW, de Bakker PI, Beckmann JS, Beilby J, Bennett DA, Bergman RN, Bergmann S, Böger CA, Boehm BO, Boerwinkle E, Boomsma DI, Bornstein SR, Bottinger EP, Bouchard C, Chambers JC, Chanock SJ, Chasman DI, Cucca F, Cusi D, Dedoussis G, Erdmann J, Eriksson JG, Evans DA, de Faire U, Farrall M, Ferrucci L, Ford I, Franke L, Franks PW, Froguel P, Gansevoort RT, Gieger C, Grönberg H, Gudnason V, Gyllensten U, Hall P, Hamsten A, van der Harst P, Hayward C, Heliövaara M, Hengstenberg C, Hicks AA, Hingorani A, Hofman A, Hu F, Huikuri HV, Hveem K, James AL, Jordan JM, Jula A, Kähönen M, Kajantie E, Kathiresan S, Kiemeney LA, Kivimaki M, Knekt PB, Koistinen HA, Kooner JS, Koskinen S, Kuusisto J, Maerz W, Martin NG, Laakso M, Lakka TA, Lehtimäki T, Lettre G, Levinson DF, Lind L, Lokki ML, Mäntyselkä P, Melbye M, Metspalu A, Mitchell BD, Moll FL, Murray JC, Musk AW, Nieminen MS, Njølstad I, Ohlsson C, Oldehinkel AJ, Oostra BA, Palmer LJ, Pankow JS, Pasterkamp G, Pedersen NL, Pedersen O, Penninx BW, Perola M, Peters A, Polašek O, Pramstaller PP, Psaty BM, Qi L, Quertermous T, Raitakari OT, Rankinen T, Rauramaa R, Ridker PM, Rioux JD, Rivadeneira F, Rotter JI, Rudan I, den Ruijter HM, Saltevo J, Sattar N, Schunkert H, Schwarz PE, Shuldiner AR, Sinisalo J, Snieder H, Sørensen TI, Spector TD, Staessen JA, Stefania B, Thorsteinsdottir U, Stumvoll M, Tardif JC, Tremoli E, Tuomilehto J, Uitterlinden AG, Uusitupa M, Verbeek AL, Vermeulen SH, Viikari JS, Vitart V, Völzke H, Vollenweider P, Waeber G, Walker M, Wallaschofski H, Wareham NJ, Watkins H, Zeggini E; CHARGE Consortium; DIAGRAM Consortium; GLGC Consortium; Global-BPGen Consortium; ICBP Consortium; MAGIC Consortium, Chakravarti A, Clegg DJ, Cupples LA, Gordon-Larsen P, Jaquish CE, Rao DC, Abecasis GR, Assimes TL, Barroso I, Berndt SI, Boehnke M, Deloukas P, Fox CS, Groop LC, Hunter DJ, Ingelsson E, Kaplan RC, McCarthy MI, Mohlke KL, O'Connell JR, Schlessinger D, Strachan DP, Stefansson K, van Duijn CM, Hirschhorn JN, Lindgren CM, Heid IM, North KE, Borecki IB, Kutalik Z, Loos RJ.

PLoS Genet. 2015 Oct 1;11(10):e1005378. doi: 10.1371/journal.pgen.1005378. eCollection 2015 Oct. Erratum in: PLoS Genet. 2016 Jun;12(6):e1006166.

33.

Identification of two novel mutations in CDHR1 in consanguineous Spanish families with autosomal recessive retinal dystrophy.

Nikopoulos K, Avila-Fernandez A, Corton M, Lopez-Molina MI, Perez-Carro R, Bontadelli L, Di Gioia SA, Zurita O, Garcia-Sandoval B, Rivolta C, Ayuso C.

Sci Rep. 2015 Sep 9;5:13902. doi: 10.1038/srep13902.

34.

NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina.

Segarra NG, Ballhausen D, Crawford H, Perreau M, Campos-Xavier B, van Spaendonck-Zwarts K, Vermeer C, Russo M, Zambelli PY, Stevenson B, Royer-Bertrand B, Rivolta C, Candotti F, Unger S, Munier FL, Superti-Furga A, Bonafé L.

Am J Med Genet A. 2015 Dec;167A(12):2902-12. doi: 10.1002/ajmg.a.37338. Epub 2015 Aug 19.

PMID:
26286438
35.

A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family.

Nikopoulos K, Butt GU, Farinelli P, Mudassar M, Domènech-Estévez E, Samara C, Kausar M, Masroor I, Chrast R, Rivolta C, Siddiqi S.

Clin Genet. 2016 Apr;89(4):510-511. doi: 10.1111/cge.12645. Epub 2015 Aug 18. No abstract available.

PMID:
26285675
36.

Loss of function mutations in HARS cause a spectrum of inherited peripheral neuropathies.

Safka Brozkova D, Deconinck T, Griffin LB, Ferbert A, Haberlova J, Mazanec R, Lassuthova P, Roth C, Pilunthanakul T, Rautenstrauss B, Janecke AR, Zavadakova P, Chrast R, Rivolta C, Zuchner S, Antonellis A, Beg AA, De Jonghe P, Senderek J, Seeman P, Baets J.

Brain. 2015 Aug;138(Pt 8):2161-72. doi: 10.1093/brain/awv158. Epub 2015 Jun 13.

37.

Analysis of the genetic basis of periodic fever with aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome.

Di Gioia SA, Bedoni N, von Scheven-Gête A, Vanoni F, Superti-Furga A, Hofer M, Rivolta C.

Sci Rep. 2015 May 19;5:10200. doi: 10.1038/srep10200.

38.

Homozygosity mapping reveals novel and known mutations in Pakistani families with inherited retinal dystrophies.

Saqib MA, Nikopoulos K, Ullah E, Sher Khan F, Iqbal J, Bibi R, Jarral A, Sajid S, Nishiguchi KM, Venturini G, Ansar M, Rivolta C.

Sci Rep. 2015 May 6;5:9965. doi: 10.1038/srep09965.

39.

A new CRB1 rat mutation links Müller glial cells to retinal telangiectasia.

Zhao M, Andrieu-Soler C, Kowalczuk L, Paz Cortés M, Berdugo M, Dernigoghossian M, Halili F, Jeanny JC, Goldenberg B, Savoldelli M, El Sanharawi M, Naud MC, van Ijcken W, Pescini-Gobert R, Martinet D, Maass A, Wijnholds J, Crisanti P, Rivolta C, Behar-Cohen F.

J Neurosci. 2015 Apr 15;35(15):6093-106. doi: 10.1523/JNEUROSCI.3412-14.2015.

40.

Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.

Di Gioia SA, Farinelli P, Letteboer SJ, Arsenijevic Y, Sharon D, Roepman R, Rivolta C.

Hum Mol Genet. 2015 Jun 15;24(12):3359-71. doi: 10.1093/hmg/ddv085. Epub 2015 Mar 5.

PMID:
25749990
41.

Sequencing and characterizing the genome of Estrella lausannensis as an undergraduate project: training students and biological insights.

Bertelli C, Aeby S, Chassot B, Clulow J, Hilfiker O, Rappo S, Ritzmann S, Schumacher P, Terrettaz C, Benaglio P, Falquet L, Farinelli L, Gharib WH, Goesmann A, Harshman K, Linke B, Miyazaki R, Rivolta C, Robinson-Rechavi M, van der Meer JR, Greub G.

Front Microbiol. 2015 Feb 19;6:101. doi: 10.3389/fmicb.2015.00101. eCollection 2015.

42.

Novel compound heterozygous Thyroglobulin mutations c.745+1G>A/c.7036+2T>A associated with congenital goiter and hypothyroidism in a Vietnamese family. Identification of a new cryptic 5' splice site in the exon 6.

Citterio CE, Morales CM, Bouhours-Nouet N, Machiavelli GA, Bueno E, Gatelais F, Coutant R, González-Sarmiento R, Rivolta CM, Targovnik HM.

Mol Cell Endocrinol. 2015 Mar 15;404:102-12. doi: 10.1016/j.mce.2015.01.032. Epub 2015 Jan 26.

PMID:
25633667
43.

Kinetic characterization of human thyroperoxidase. Normal and pathological enzyme expression in Baculovirus system: a molecular model of functional expression.

Belforte FS, Targovnik AM, González-Lebrero RM, Osorio Larroche C, Citterio CE, González-Sarmiento R, Miranda MV, Targovnik HM, Rivolta CM.

Mol Cell Endocrinol. 2015 Mar 15;404:9-15. doi: 10.1016/j.mce.2014.12.026. Epub 2015 Jan 7.

PMID:
25576858
44.

Whole genome sequencing as a means to assess pathogenic mutations in medical genetics and cancer.

Royer-Bertrand B, Rivolta C.

Cell Mol Life Sci. 2015 Apr;72(8):1463-71. doi: 10.1007/s00018-014-1807-9. Epub 2014 Dec 30. Review.

PMID:
25548800
45.

Two specific mutations are prevalent causes of recessive retinitis pigmentosa in North American patients of Jewish ancestry.

Venturini G, Koskiniemi-Kuendig H, Harper S, Berson EL, Rivolta C.

Genet Med. 2015 Apr;17(4):285-90. doi: 10.1038/gim.2014.132. Epub 2014 Sep 25.

PMID:
25255364
46.

Novel approach identifies SNPs in SLC2A10 and KCNK9 with evidence for parent-of-origin effect on body mass index.

Hoggart CJ, Venturini G, Mangino M, Gomez F, Ascari G, Zhao JH, Teumer A, Winkler TW, Tšernikova N, Luan J, Mihailov E, Ehret GB, Zhang W, Lamparter D, Esko T, Macé A, Rüeger S, Bochud PY, Barcella M, Dauvilliers Y, Benyamin B, Evans DM, Hayward C, Lopez MF, Franke L, Russo A, Heid IM, Salvi E, Vendantam S, Arking DE, Boerwinkle E, Chambers JC, Fiorito G, Grallert H, Guarrera S, Homuth G, Huffman JE, Porteous D; Generation Scotland Consortium; LifeLines Cohort study; GIANT Consortium, Moradpour D, Iranzo A, Hebebrand J, Kemp JP, Lammers GJ, Aubert V, Heim MH, Martin NG, Montgomery GW, Peraita-Adrados R, Santamaria J, Negro F, Schmidt CO, Scott RA, Spector TD, Strauch K, Völzke H, Wareham NJ, Yuan W, Bell JT, Chakravarti A, Kooner JS, Peters A, Matullo G, Wallaschofski H, Whitfield JB, Paccaud F, Vollenweider P, Bergmann S, Beckmann JS, Tafti M, Hastie ND, Cusi D, Bochud M, Frayling TM, Metspalu A, Jarvelin MR, Scherag A, Smith GD, Borecki IB, Rousson V, Hirschhorn JN, Rivolta C, Loos RJ, Kutalik Z.

PLoS Genet. 2014 Jul 31;10(7):e1004508. doi: 10.1371/journal.pgen.1004508. eCollection 2014 Jul.

47.

Genetic diversity of a late prehispanic group of the Quebrada de Humahuaca, northwestern Argentina.

Mendisco F, Keyser C, Seldes V, Rivolta C, Mercolli P, Cruz P, Nielsen AE, Crubezy E, Ludes B.

Ann Hum Genet. 2014 Sep;78(5):367-80. doi: 10.1111/ahg.12075. Epub 2014 Jun 24.

48.

Mutational screening of splicing factor genes in cases with autosomal dominant retinitis pigmentosa.

Benaglio P, San Jose PF, Avila-Fernandez A, Ascari G, Harper S, Manes G, Ayuso C, Hamel C, Berson EL, Rivolta C.

Mol Vis. 2014 Jun 18;20:843-51. eCollection 2014.

49.

Comparative genome analysis of Pseudomonas knackmussii B13, the first bacterium known to degrade chloroaromatic compounds.

Miyazaki R, Bertelli C, Benaglio P, Canton J, De Coi N, Gharib WH, Gjoksi B, Goesmann A, Greub G, Harshman K, Linke B, Mikulic J, Mueller L, Nicolas D, Robinson-Rechavi M, Rivolta C, Roggo C, Roy S, Sentchilo V, Siebenthal AV, Falquet L, van der Meer JR.

Environ Microbiol. 2015 Jan;17(1):91-104. doi: 10.1111/1462-2920.12498. Epub 2014 May 28.

50.

Exome sequencing extends the phenotypic spectrum for ABHD12 mutations: from syndromic to nonsyndromic retinal degeneration.

Nishiguchi KM, Avila-Fernandez A, van Huet RA, Corton M, Pérez-Carro R, Martín-Garrido E, López-Molina MI, Blanco-Kelly F, Hoefsloot LH, van Zelst-Stams WA, García-Ruiz PJ, Del Val J, Di Gioia SA, Klevering BJ, van de Warrenburg BP, Vazquez C, Cremers FP, García-Sandoval B, Hoyng CB, Collin RW, Rivolta C, Ayuso C.

Ophthalmology. 2014 Aug;121(8):1620-7. doi: 10.1016/j.ophtha.2014.02.008. Epub 2014 Mar 31. Erratum in: Ophthalmology. 2017 Feb;124(2):273-274.

PMID:
24697911

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