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Items: 1 to 50 of 80

1.

Null variants and deletions in BRWD3 cause an X-linked syndrome of mild-moderate intellectual disability, macrocephaly, and obesity: A series of 17 patients.

Ostrowski PJ, Zachariou A, Loveday C, Baralle D, Blair E, Douzgou S, Field M, Foster A, Kyle C, Lachlan K, Mansour S, Naik S, Rea G, Smithson S, Sznajer Y, Thompson E, Cole T, Tatton-Brown K.

Am J Med Genet C Semin Med Genet. 2019 Nov 12. doi: 10.1002/ajmg.c.31750. [Epub ahead of print]

PMID:
31714006
2.

Splicing in the pathogenesis, diagnosis and treatment of ciliopathies.

Wheway G, Lord J, Baralle D.

Biochim Biophys Acta Gene Regul Mech. 2019 Nov 4:194433. doi: 10.1016/j.bbagrm.2019.194433. [Epub ahead of print] Review.

PMID:
31698098
3.

A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotyping.

O'Gorman L, Norman CS, Michaels L, Newall T, Crosby AH, Mattocks C, Cree AJ, Lotery AJ, Baple EL, Ratnayaka JA, Baralle D, Lee H, Osborne D, Shawkat F, Gibson J, Ennis S, Self JE.

Sci Rep. 2019 Sep 13;9(1):13229. doi: 10.1038/s41598-019-49368-7.

4.

Exome sequencing in patients with antiepileptic drug exposure and complex phenotypes.

Jackson A, Ward H, Bromley RL, Deshpande C, Vasudevan P, Scurr I, Dean J, Shannon N, Berg J, Holder S, Baralle D, Clayton-Smith J; DDD Study.

Arch Dis Child. 2019 Sep 3. pii: archdischild-2018-316547. doi: 10.1136/archdischild-2018-316547. [Epub ahead of print]

PMID:
31481360
5.

Deleterious de novo variants of X-linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita.

Frints SGM, Hennig F, Colombo R, Jacquemont S, Terhal P, Zimmerman HH, Hunt D, Mendelsohn BA, Kordaß U, Webster R, Sinnema M, Abdul-Rahman O, Suckow V, Fernández-Jaén A, van Roozendaal K, Stevens SJC, Macville MVE, Al-Nasiry S, van Gassen K, Utzig N, Koudijs SM, McGregor L, Maas SM, Baralle D, Dixit A, Wieacker P, Lee M, Lee AS, Engle EC, Houge G, Gradek GA, Douglas AGL, Longman C, Joss S, Velasco D, Hennekam RC, Hirata H, Kalscheuer VM.

Hum Mutat. 2019 Jun 17. doi: 10.1002/humu.23841. [Epub ahead of print]

PMID:
31206972
6.

Growth disrupting mutations in epigenetic regulatory molecules are associated with abnormalities of epigenetic aging.

Jeffries AR, Maroofian R, Salter CG, Chioza BA, Cross HE, Patton MA, Dempster E, Temple IK, Mackay DJG, Rezwan FI, Aksglaede L, Baralle D, Dabir T, Hunter MF, Kamath A, Kumar A, Newbury-Ecob R, Selicorni A, Springer A, Van Maldergem L, Varghese V, Yachelevich N, Tatton-Brown K, Mill J, Crosby AH, Baple EL.

Genome Res. 2019 Jul;29(7):1057-1066. doi: 10.1101/gr.243584.118. Epub 2019 Jun 3.

7.

Phenotypic and biochemical analysis of an international cohort of individuals with variants in NAA10 and NAA15.

Cheng H, Gottlieb L, Marchi E, Kleyner R, Bhardwaj P, Rope AF, Rosenheck S, Moutton S, Philippe C, Eyaid W, Alkuraya FS, Toribio J, Mena R, Prada CE, Stessman H, Bernier R, Wermuth M, Kauffmann B, Blaumeiser B, Kooy RF, Baralle D, Mancini GMS, Conway SJ, Xia F, Chen Z, Meng L, Mihajlovic L, Marmorstein R, Lyon GJ.

Hum Mol Genet. 2019 Sep 1;28(17):2900-2919. doi: 10.1093/hmg/ddz111.

PMID:
31127942
8.

A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies.

Nixon KCJ, Rousseau J, Stone MH, Sarikahya M, Ehresmann S, Mizuno S, Matsumoto N, Miyake N; DDD Study, Baralle D, McKee S, Izumi K, Ritter AL, Heide S, Héron D, Depienne C, Titheradge H, Kramer JM, Campeau PM.

Am J Hum Genet. 2019 Apr 4;104(4):596-610. doi: 10.1016/j.ajhg.2019.02.001. Epub 2019 Mar 14.

9.

Identification and functional analysis of a novel oculocerebrorenal syndrome of Lowe (OCRL) gene variant in two pedigrees with varying phenotypes including isolated congenital cataract.

Shalaby AK, Emery-Billcliff P, Baralle D, Dabir T, Begum S, Waller S, Tabernero L, Lowe M, Self J.

Mol Vis. 2018 Dec 31;24:847-852. eCollection 2018.

10.

RNA splicing analysis in genomic medicine.

Wai H, Douglas AGL, Baralle D.

Int J Biochem Cell Biol. 2019 Mar;108:61-71. doi: 10.1016/j.biocel.2018.12.009. Epub 2018 Dec 27. Review.

PMID:
30594648
11.

Breast cancer risk in neurofibromatosis type 1 is a function of the type of NF1 gene mutation: a new genotype-phenotype correlation.

Frayling IM, Mautner VF, van Minkelen R, Kallionpaa RA, Aktaş S, Baralle D, Ben-Shachar S, Callaway A, Cox H, Eccles DM, Ferkal S, LaDuca H, Lázaro C, Rogers MT, Stuenkel AJ, Summerour P, Varan A, Yap YS, Zehou O, Peltonen J, Evans DG, Wolkenstein P, Upadhyaya M.

J Med Genet. 2019 Apr;56(4):209-219. doi: 10.1136/jmedgenet-2018-105599. Epub 2018 Dec 10.

PMID:
30530636
12.

Gene-specific metrics to facilitate identification of disease genes for molecular diagnosis in patient genomes: a systematic review.

Alyousfi D, Baralle D, Collins A.

Brief Funct Genomics. 2019 Feb 14;18(1):23-29. doi: 10.1093/bfgp/ely033.

PMID:
30312370
13.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

Tatton-Brown K, Zachariou A, Loveday C, Renwick A, Mahamdallie S, Aksglaede L, Baralle D, Barge-Schaapveld D, Blyth M, Bouma M, Breckpot J, Crabb B, Dabir T, Cormier-Daire V, Fauth C, Fisher R, Gener B, Goudie D, Homfray T, Hunter M, Jorgensen A, Kant SG, Kirally-Borri C, Koolen D, Kumar A, Labilloy A, Lees M, Marcelis C, Mercer C, Mignot C, Miller K, Neas K, Newbury-Ecob R, Pilz DT, Posmyk R, Prada C, Ramsey K, Randolph LM, Selicorni A, Shears D, Suri M, Temple IK, Turnpenny P, Val Maldergem L, Varghese V, Veenstra-Knol HE, Yachelevich N, Yates L; Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study; Deciphering Developmental Disorders (DDD) Study, Rahman N.

Wellcome Open Res. 2018 Apr 23;3:46. doi: 10.12688/wellcomeopenres.14430.1. eCollection 2018.

14.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

Reijnders MRF, Miller KA, Alvi M, Goos JAC, Lees MM, de Burca A, Henderson A, Kraus A, Mikat B, de Vries BBA, Isidor B, Kerr B, Marcelis C, Schluth-Bolard C, Deshpande C, Ruivenkamp CAL, Wieczorek D; Deciphering Developmental Disorders Study, Baralle D, Blair EM, Engels H, Lüdecke HJ, Eason J, Santen GWE, Clayton-Smith J, Chandler K, Tatton-Brown K, Payne K, Helbig K, Radtke K, Nugent KM, Cremer K, Strom TM, Bird LM, Sinnema M, Bitner-Glindzicz M, van Dooren MF, Alders M, Koopmans M, Brick L, Kozenko M, Harline ML, Klaassens M, Steinraths M, Cooper NS, Edery P, Yap P, Terhal PA, van der Spek PJ, Lakeman P, Taylor RL, Littlejohn RO, Pfundt R, Mercimek-Andrews S, Stegmann APA, Kant SG, McLean S, Joss S, Swagemakers SMA, Douzgou S, Wall SA, Küry S, Calpena E, Koelling N, McGowan SJ, Twigg SRF, Mathijssen IMJ, Nellaker C, Brunner HG, Wilkie AOM.

Am J Hum Genet. 2018 Jun 7;102(6):1195-1203. doi: 10.1016/j.ajhg.2018.04.014. Epub 2018 May 31.

15.

A study of splicing mutations in disorders of sex development.

de Calais FL, Smith LD, Raponi M, Maciel-Guerra AT, Guerra-Junior G, de Mello MP, Baralle D.

Sci Rep. 2017 Nov 24;7(1):16202. doi: 10.1038/s41598-017-16296-3.

16.

Expanding the neurodevelopmental phenotype of PURA syndrome.

Lee BH, Reijnders MRF, Abubakare O, Tuttle E, Lape B, Minks KQ, Stodgell C, Bennetto L, Kwon J, Fong CT, Gripp KW, Marsh ED, Smith WE, Huq AM, Coury SA, Tan WH, Solis O, Mehta RI, Leventer RJ, Baralle D, Hunt D, Paciorkowski AR.

Am J Med Genet A. 2018 Jan;176(1):56-67. doi: 10.1002/ajmg.a.38521. Epub 2017 Nov 17.

17.

PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.

Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D.

J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2. Review.

18.

TRIO-Related Intellectual Disability.

Varvagiannis K, Vissers LELM, Baralle D, de Vries BBA.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2017 Aug 10.

19.

Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B).

Norman CS, O'Gorman L, Gibson J, Pengelly RJ, Baralle D, Ratnayaka JA, Griffiths H, Rose-Zerilli M, Ranger M, Bunyan D, Lee H, Page R, Newall T, Shawkat F, Mattocks C, Ward D, Ennis S, Self JE.

Sci Rep. 2017 Jun 30;7(1):4415. doi: 10.1038/s41598-017-04401-5.

20.

PURA-Related Neurodevelopmental Disorders.

Reijnders MRF, Leventer RJ, Lee BH, Baralle D, Selber P, Paciorkowski AR, Hunt D.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2017 Apr 27.

21.

Human NDE1 splicing and mammalian brain development.

Mosca S, Raponi M, Meneghello A, Buratti E, Woods CG, Baralle D.

Sci Rep. 2017 Mar 7;7:43504. doi: 10.1038/srep43504.

22.

RNA splicing in human disease and in the clinic.

Baralle D, Buratti E.

Clin Sci (Lond). 2017 Mar 1;131(5):355-368. doi: 10.1042/CS20160211. Review.

PMID:
28202748
23.

Novel splice-switching oligonucleotide promotes BRCA1 aberrant splicing and susceptibility to PARP inhibitor action.

Smith LD, Leme de Calais F, Raponi M, Mellone M, Buratti E, Blaydes JP, Baralle D.

Int J Cancer. 2017 Apr 1;140(7):1564-1570. doi: 10.1002/ijc.30574. Epub 2017 Jan 30.

24.

Combined genetic and splicing analysis of BRCA1 c.[594-2A>C; 641A>G] highlights the relevance of naturally occurring in-frame transcripts for developing disease gene variant classification algorithms.

de la Hoya M, Soukarieh O, López-Perolio I, Vega A, Walker LC, van Ierland Y, Baralle D, Santamariña M, Lattimore V, Wijnen J, Whiley P, Blanco A, Raponi M, Hauke J, Wappenschmidt B, Becker A, Hansen TV, Behar R, Investigators K, Niederacher D, Arnold N, Dworniczak B, Steinemann D, Faust U, Rubinstein W, Hulick PJ, Houdayer C, Caputo SM, Castera L, Pesaran T, Chao E, Brewer C, Southey MC, van Asperen CJ, Singer CF, Sullivan J, Poplawski N, Mai P, Peto J, Johnson N, Burwinkel B, Surowy H, Bojesen SE, Flyger H, Lindblom A, Margolin S, Chang-Claude J, Rudolph A, Radice P, Galastri L, Olson JE, Hallberg E, Giles GG, Milne RL, Andrulis IL, Glendon G, Hall P, Czene K, Blows F, Shah M, Wang Q, Dennis J, Michailidou K, McGuffog L, Bolla MK, Antoniou AC, Easton DF, Couch FJ, Tavtigian S, Vreeswijk MP, Parsons M, Meeks HD, Martins A, Goldgar DE, Spurdle AB.

Hum Mol Genet. 2016 Jun 1;25(11):2256-2268. Epub 2016 Mar 23.

25.

Mutations specific to the Rac-GEF domain of TRIO cause intellectual disability and microcephaly.

Pengelly RJ, Greville-Heygate S, Schmidt S, Seaby EG, Jabalameli MR, Mehta SG, Parker MJ, Goudie D, Fagotto-Kaufmann C, Mercer C; DDD Study, Debant A, Ennis S, Baralle D.

J Med Genet. 2016 Nov;53(11):735-742. doi: 10.1136/jmedgenet-2016-103942. Epub 2016 Jul 14.

26.

Naturally occurring BRCA2 alternative mRNA splicing events in clinically relevant samples.

Fackenthal JD, Yoshimatsu T, Zhang B, de Garibay GR, Colombo M, De Vecchi G, Ayoub SC, Lal K, Olopade OI, Vega A, Santamariña M, Blanco A, Wappenschmidt B, Becker A, Houdayer C, Walker LC, López-Perolio I, Thomassen M, Parsons M, Whiley P, Blok MJ, Brandão RD, Tserpelis D, Baralle D, Montalban G, Gutiérrez-Enríquez S, Díez O, Lazaro C; kConFaB Investigators, Spurdle AB, Radice P, de la Hoya M.

J Med Genet. 2016 Aug;53(8):548-58. doi: 10.1136/jmedgenet-2015-103570. Epub 2016 Apr 8.

PMID:
27060066
27.

Expanding the ocular phenotype of 14q terminal deletions: A novel presentation of microphthalmia and coloboma in ring 14 syndrome with associated 14q32.31 deletion and review of the literature.

Salter CG, Baralle D, Collinson MN, Self JE.

Am J Med Genet A. 2016 Apr;170A(4):1017-22. doi: 10.1002/ajmg.a.37436. Epub 2016 Jan 15. Review.

PMID:
26773965
28.

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling.

Snijders Blok L, Madsen E, Juusola J, Gilissen C, Baralle D, Reijnders MR, Venselaar H, Helsmoortel C, Cho MT, Hoischen A, Vissers LE, Koemans TS, Wissink-Lindhout W, Eichler EE, Romano C, Van Esch H, Stumpel C, Vreeburg M, Smeets E, Oberndorff K, van Bon BW, Shaw M, Gecz J, Haan E, Bienek M, Jensen C, Loeys BL, Van Dijck A, Innes AM, Racher H, Vermeer S, Di Donato N, Rump A, Tatton-Brown K, Parker MJ, Henderson A, Lynch SA, Fryer A, Ross A, Vasudevan P, Kini U, Newbury-Ecob R, Chandler K, Male A; DDD Study, Dijkstra S, Schieving J, Giltay J, van Gassen KL, Schuurs-Hoeijmakers J, Tan PL, Pediaditakis I, Haas SA, Retterer K, Reed P, Monaghan KG, Haverfield E, Natowicz M, Myers A, Kruer MC, Stein Q, Strauss KA, Brigatti KW, Keating K, Burton BK, Kim KH, Charrow J, Norman J, Foster-Barber A, Kline AD, Kimball A, Zackai E, Harr M, Fox J, McLaughlin J, Lindstrom K, Haude KM, van Roozendaal K, Brunner H, Chung WK, Kooy RF, Pfundt R, Kalscheuer V, Mehta SG, Katsanis N, Kleefstra T.

Am J Hum Genet. 2015 Aug 6;97(2):343-52. doi: 10.1016/j.ajhg.2015.07.004. Epub 2015 Jul 30.

29.

Pallister-Killian syndrome: a study of 22 British patients.

Blyth M, Maloney V, Beal S, Collinson M, Huang S, Crolla J, Temple IK, Baralle D.

J Med Genet. 2015 Jul;52(7):454-64. doi: 10.1136/jmedgenet-2014-102877. Epub 2015 Apr 17.

PMID:
25888713
30.

Whole exome sequencing in family trios reveals de novo mutations in PURA as a cause of severe neurodevelopmental delay and learning disability.

Hunt D, Leventer RJ, Simons C, Taft R, Swoboda KJ, Gawne-Cain M; DDD study, Magee AC, Turnpenny PD, Baralle D.

J Med Genet. 2014 Dec;51(12):806-13. doi: 10.1136/jmedgenet-2014-102798. Epub 2014 Oct 23.

31.

RBFOX2 protein domains and cellular activities.

Arya AD, Wilson DI, Baralle D, Raponi M.

Biochem Soc Trans. 2014 Aug;42(4):1180-3. doi: 10.1042/BST20140050. Review.

PMID:
25110022
32.

BRCA1 EXON 11, a CERES (composite regulatory element of splicing) element involved in splice regulation.

Tammaro C, Raponi M, Wilson DI, Baralle D.

Int J Mol Sci. 2014 Jul 23;15(7):13045-59. doi: 10.3390/ijms150713045.

33.

BRCA1 exon 11 a model of long exon splicing regulation.

Raponi M, Smith LD, Silipo M, Stuani C, Buratti E, Baralle D.

RNA Biol. 2014;11(4):351-9. doi: 10.4161/rna.28458. Epub 2014 Mar 18.

34.

Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability.

Tatton-Brown K, Seal S, Ruark E, Harmer J, Ramsay E, Del Vecchio Duarte S, Zachariou A, Hanks S, O'Brien E, Aksglaede L, Baralle D, Dabir T, Gener B, Goudie D, Homfray T, Kumar A, Pilz DT, Selicorni A, Temple IK, Van Maldergem L, Yachelevich N; Childhood Overgrowth Consortium, van Montfort R, Rahman N.

Nat Genet. 2014 Apr;46(4):385-8. doi: 10.1038/ng.2917. Epub 2014 Mar 9. Erratum in: Nat Genet. 2014 Jun;46(6):657.

35.

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.

Colombo M, Blok MJ, Whiley P, Santamariña M, Gutiérrez-Enríquez S, Romero A, Garre P, Becker A, Smith LD, De Vecchi G, Brandão RD, Tserpelis D, Brown M, Blanco A, Bonache S, Menéndez M, Houdayer C, Foglia C, Fackenthal JD, Baralle D, Wappenschmidt B; kConFaB Investigators, Díaz-Rubio E, Caldés T, Walker L, Díez O, Vega A, Spurdle AB, Radice P, De La Hoya M.

Hum Mol Genet. 2014 Jul 15;23(14):3666-80. doi: 10.1093/hmg/ddu075. Epub 2014 Feb 25.

PMID:
24569164
36.

Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.

Whiley PJ, de la Hoya M, Thomassen M, Becker A, Brandão R, Pedersen IS, Montagna M, Menéndez M, Quiles F, Gutiérrez-Enríquez S, De Leeneer K, Tenés A, Montalban G, Tserpelis D, Yoshimatsu T, Tirapo C, Raponi M, Caldes T, Blanco A, Santamariña M, Guidugli L, de Garibay GR, Wong M, Tancredi M, Fachal L, Ding YC, Kruse T, Lattimore V, Kwong A, Chan TL, Colombo M, De Vecchi G, Caligo M, Baralle D, Lázaro C, Couch F, Radice P, Southey MC, Neuhausen S, Houdayer C, Fackenthal J, Hansen TV, Vega A, Diez O, Blok R, Claes K, Wappenschmidt B, Walker L, Spurdle AB, Brown MA; ENIGMA consortium.

Clin Chem. 2014 Feb;60(2):341-52. doi: 10.1373/clinchem.2013.210658. Epub 2013 Nov 8.

37.

Role of pseudoexons and pseudointrons in human cancer.

Romano M, Buratti E, Baralle D.

Int J Cell Biol. 2013;2013:810572. doi: 10.1155/2013/810572. Epub 2013 Sep 24. Review.

38.

BRCA1 exon 11 alternative splicing, multiple functions and the association with cancer.

Tammaro C, Raponi M, Wilson DI, Baralle D.

Biochem Soc Trans. 2012 Aug;40(4):768-72. doi: 10.1042/BST20120140. Review.

PMID:
22817731
39.

Evolutionary constraint helps unmask a splicing regulatory region in BRCA1 exon 11.

Raponi M, Douglas AG, Tammaro C, Wilson DI, Baralle D.

PLoS One. 2012;7(5):e37255. doi: 10.1371/journal.pone.0037255. Epub 2012 May 16.

40.

Novel Tandem Duplication in Exon 1 of the SNURF/SNRPN Gene in a Child with Transient Excessive Eating Behaviour and Weight Gain.

Naik S, Thomas NS, Davies JH, Lever M, Raponi M, Baralle D, Temple IK, Caliebe A.

Mol Syndromol. 2012 Jan;2(2):76-80. Epub 2012 Jan 4.

41.

Exon skipping mutations in neurofibromatosis.

Buratti E, Baralle D.

Methods Mol Biol. 2012;867:65-76. doi: 10.1007/978-1-61779-767-5_5.

PMID:
22454055
42.

Systematic screening of FBN1 gene unclassified missense variants for splice abnormalities.

Robinson DO, Lin F, Lyon M, Raponi M, Cross E, White HE, Cox H, Clayton-Smith J, Baralle D.

Clin Genet. 2012 Sep;82(3):223-31. doi: 10.1111/j.1399-0004.2011.01781.x. Epub 2011 Sep 30.

PMID:
21895641
43.

King-Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene.

Dowling JJ, Lillis S, Amburgey K, Zhou H, Al-Sarraj S, Buk SJ, Wraige E, Chow G, Abbs S, Leber S, Lachlan K, Baralle D, Taylor A, Sewry C, Muntoni F, Jungbluth H.

Neuromuscul Disord. 2011 Jun;21(6):420-7. doi: 10.1016/j.nmd.2011.03.006. Epub 2011 Apr 22.

PMID:
21514828
44.

Anophthalmia in fronto-facial-nasal dysplasia.

Blyth M, Baralle D.

Clin Dysmorphol. 2011 Apr;20(2):73-4. doi: 10.1097/MCD.0b013e328343515c. No abstract available.

PMID:
21317770
45.

Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6.

Raponi M, Kralovicova J, Copson E, Divina P, Eccles D, Johnson P, Baralle D, Vorechovsky I.

Hum Mutat. 2011 Apr;32(4):436-44. doi: 10.1002/humu.21458. Epub 2011 Mar 8.

PMID:
21309043
46.

An intronic mutation in MLH1 associated with familial colon and breast cancer.

Bianchi F, Raponi M, Piva F, Viel A, Bearzi I, Galizia E, Bracci R, Belvederesi L, Loretelli C, Brugiati C, Corradini F, Baralle D, Cellerino R.

Fam Cancer. 2011 Mar;10(1):27-35. doi: 10.1007/s10689-010-9371-4.

47.

Novel roles of U1 snRNP in alternative splicing regulation.

Buratti E, Baralle D.

RNA Biol. 2010 Jul-Aug;7(4):412-9. Epub 2010 Jul 1. Review.

PMID:
20523112
48.

Expanding the tuberous sclerosis phenotype: mild disease caused by a TSC1 splicing mutation.

Blyth M, Raponi M, Treacy R, Raymond FL, Yates JR, Baralle D.

J Neurol Neurosurg Psychiatry. 2010 Mar;81(3):350-2. doi: 10.1136/jnnp.2009.179689. No abstract available.

PMID:
20185476
49.

RNA splicing meets genetic testing: detection and interpretation of splicing defects in genetic diseases.

Tosi M, Stamm S, Baralle D.

Eur J Hum Genet. 2010 Jun;18(6):737-8. doi: 10.1038/ejhg.2010.18. Epub 2010 Feb 24. No abstract available.

50.

Novel aspects of alternative splicing.

Baralle D.

FEBS J. 2010 Feb;277(4):835. doi: 10.1111/j.1742-4658.2009.07518.x. Epub 2010 Jan 15. No abstract available.

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