Mudvari P, Movassagh M, Kowsari K, Seyfi A, Kokkinaki M, Edwards NJ, Golestaneh N, Horvath A. SNPlice: variants that modulate Intron retention from RNA-sequencing data. Bioinformatics. 2014 Dec 6. pii: btu804.

Movassagh M, Mudvari P, Kokkinaki M, Edwards NJ, Golestaneh N, and Horvath A. Analysis for co-occurring sequence features identifies link between common synonymous variant and an early-terminated NPC1 isoform. Journal of Clinical Bioinformatics, 2015, in press.

Faucz FR, Horvath A, Azevedo MF, Levy I, Bak B, Wang Y, Xekouki P, Szarek E, Gourgari E, Manning AD, de Alexandre RB, Saloustros E, Trivellin G, Lodish M, Hofman P, Anderson YC, Holdaway I, Oldfield E, Chittiboina P, Nesterova M, Biermasz NR, Wit JM, Bernard DJ, Stratakis CA. Is IGSF1 involved in human pituitary tumor formation? Endocr Relat Cancer. 2015;22:47-54.

Trivellin G, Daly AF, Faucz FR, Yuan B, Rostomyan L, Larco DO, Schernthaner-Reiter MH, Szarek E, Leal LF, Caberg JH, Castermans E, Villa C, Dimopoulos A, Chittiboina P, Xekouki P, Shah N, Metzger D, Lysy PA, Ferrante E, Strebkova N, Mazerkina N, Zatelli MC, Lodish M, Horvath A, de Alexandre RB, Manning AD, Levy I, Keil MF, Sierra Mde L, Palmeira L, Coppieters W, Georges M, Naves LA, Jamar M, Bours V, Wu TJ, Choong CS, Bertherat J, Chanson P, Kamenický P, Farrell WE, Barlier A, Quezado M, Bjelobaba I, Stojilkovic SS, Wess J, Costanzi S, Liu P, Lupski JR, Beckers A, Stratakis CA. Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med. 2014;371:2363-74

Salpea P, Horvath A, London E, Faucz FR, Vetro A, Levy I, Gourgari E, Dauber A, Holm IA, Morrison PJ, Keil MF, Lyssikatos C, Smith ED, Sanidad MA, Kelly JC, Dai Z, Mowrey P, Forlino A, Zuffardi O, Stratakis CA. Large deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing. J Clin Endocrinol Metab. 2014;99:E183-8.

Mudvari P, Kowsari K, Cole C, Mazumder R, Horvath A. Extraction of Molecular Features through Exome to Transcriptome Alignment. J Metabolomics Syst Biol. 2013 Aug 22;1(1). pii: 7

Horvath A, Pakala S, Mudvari P, Reddy S, Oshsiro K, Casimiro S, Pires R, Fuqua S, Toi M, Costa L, Sujit N, Sukumar S, and Kumar R. Novel Insights into Breast Cancer Genetic Variance through RNA Sequencing. Sci Rep, 2013;3:2256.

Mudvari P, Ohshiro K, Nair V, Horvath A, Kumar R. Genomic Insights into Triple-Negative and HER2-Positive Breast Cancers Using Isogenic Model Systems. PLoS One. 2013;8:e74993.

Eswaran J, Horvath A, Divijendra S, Godbole S, Mudvari P, Ohshiro K, Cyanam D, Nair S, Fuqua S, Polyak K, Florea L, Kumar R. RNA sequencing of cancer reveals novel splicing alterations. Sci Rep. 2013;3:1689

Motwani M, Li DQ, Horvath A, Kumar R. Identification of Novel Gene Targets and Functions of p21-Activated Kinase 1 during DNA Damage by Gene Expression Profiling. PLoS One. 2013;8:e66585.

Guillaud Bataille M, Rhayem Y, Sousa SB, Libé R, Dambrun M, Chevalier C, Nigou M, Auzan C, North MO, Sa J, Gomes L, Salpea P, Horvath A, Stratakis CA, Hamzaoui N, Bertherat J, Clauser E. Systematic screening for PRKAR1A gene rearrangement in Carney complex: identification and functional characterization of a new in-frame deletion. Eur J Endocrinol. 2013;170:151-60.

Azevedo MF, Horvath A, Bornstein ER, Almeida MQ, Xekouki P, Faucz FR, Gourgari E, Nadella K, Remmers EF, Quezado M, de Alexandre RB, Kratz CP, Nesterova M, Greene MH, Stratakis CA. Cyclic AMP and c-KIT signaling in familial testicular germ cell tumor predisposition. J Clin Endocrinol Metab. 2013 Aug;98(8):E1393-400. doi: 10.1210/jc.2012-2838. Epub 2013 Jun 14.

Hofland J, de Herder WW, Derks L, Hofland LJ, van Koetsveld PM, de Krijger RR, van Nederveen FH, Horvath A, Stratakis CA, de Jong FH, Feelders RA. Regulation of steroidogenesis in a primary pigmented nodular adrenocortical disease-associated adenoma leading to virilization and subclinical Cushing's syndrome. Eur J Endocrinol. 2012 Dec 10;168(1):67-74.

Vezzosi D, Libé R, Baudry C, Rizk-Rabin M, Horvath A, Levy I, René-Corail F, Ragazzon B, Stratakis CA, Vandecasteele G, Bertherat J. Phosphodiesterase 11A (PDE11A) gene defects in patients with acth-independent macronodular adrenal hyperplasia (AIMAH): functional variants may contribute to genetic susceptibility of bilateral adrenal tumors. J Clin Endocrinol Metab. 2012;97:E2063-9.

Briassoulis G, Horvath A, Christoforou P, Lodish M, Xekouki P, Quezado M, Patronas N, Keil MF, Stratakis CA. Lack of mutations in the gene coding for the hGR (NR3C1) in a pediatric patient with ACTH-secreting pituitary adenoma, absence of stigmata of Cushing's syndrome and unusual histologic features. J Pediatr Endocrinol Metab. 2012;25:213-9.

Tsigginou A, Bimpaki E, Nesterova M, Horvath A, Boikos S, Lyssikatos C, Papageorgiou C, Dimitrakakis C, Rodolakis A, Stratakis CA, Antsaklis A. PRKAR1A gene analysis and protein kinase A activity in endometrial tumors. Endocr Relat Cancer. 2012;19:457-62.

Rothenbuhler A, Horvath A, Libé R, Faucz FR, Fratticci A, Raffin Sanson ML, Vezzosi D, Azevedo M, Levy I, Almeida MQ, Lodish M, Nesterova M, Bertherat J, Stratakis CA. Identification of novel genetic variants in phosphodiesterase 8B (PDE8B), a cAMP-specific phosphodiesterase highly expressed in the adrenal cortex, in a cohort of patients with adrenal tumours. Clin Endocrinol (Oxf). 2012;77:195-9.

Xekouki P, Hatch MM, Lin L, Rodrigo de A, Azevedo M, de la Luz Sierra M, Levy I, Saloustros E, Moraitis A, Horvath A, Kebebew E, Hoffman DA, Stratakis CA. KCNJ5 mutations in the National Institutes of Health cohort of patients with primary hyperaldosteronism: an infrequent genetic cause of Conn's syndrome. Endocr Relat Cancer. 2012;19:255-60.

Almeida MQ, Azevedo MF, Xekouki P, Bimpaki EI, Horvath A, Collins MT, Karaviti LP, Jeha GS, Bhattacharyya N, Cheadle C, Watkins T, Bourdeau I, Nesterova M, Stratakis CA. Activation of cyclic AMP signaling leads to different pathway alterations in lesions of the adrenal cortex caused by germline PRKAR1A defects versus those due to somatic GNAS mutations. J Clin Endocrinol Metab. 2012;97:E687-93.

Patronas Y, Horvath A, Greene E, Tsang K, Bimpaki E, Haran M, Nesterova M, Stratakis CA. In vitro studies of novel PRKAR1A mutants that extend the predicted RIα protein sequence into the 3'-untranslated open reading frame: proteasomal degradation leads to RIα haploinsufficiency and Carney complex. J Clin Endocrinol Metab. 2012;97:E496-502.

Xekouki P, Pacak K, Almeida M, Wassif CA, Rustin P, Nesterova M, de la Luz Sierra M, Matro J, Ball E, Azevedo M, Horvath A, Lyssikatos C, Quezado M, Patronas N, Ferrando B, Pasini B, Lytras A, Tolis G, Stratakis CA. Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH? J Clin Endocrinol Metab. 2012;97:E357-66.

Anselmo J, Medeiros S, Carneiro V, Greene E, Levy I, Nesterova M, Lyssikatos C, Horvath A, Carney JA, Stratakis CA. A large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer. J Clin Endocrinol Metab. 2012 Feb;97(2):351-9.

Farrell WE, Azevedo MF, Batista DL, Smith A, Bourdeau I, Horvath A, Boguszewski M, Quezado M, Stratakis CA. Unique gene expression profile associated with an early-onset multiple endocrine neoplasia (MEN1)-associated pituitary adenoma. J Clin Endocrinol Metab. 2011;96:E1905-14.

Gaujoux S, Tissier F, Ragazzon B, Rebours V, Saloustros E, Perlemoine K, Vincent-Dejean C, Meurette G, Cassagnau E, Dousset B, Bertagna X, Horvath A, Terris B, Carney JA, Stratakis CA, Bertherat J. Pancreatic ductal and acinar cell neoplasms in Carney complex: a possible new association. J Clin Endocrinol Metab. 2011;96:E1888-95.

Toledo RA, Sekiya T, Horvath A, Faucz F, Fragoso MC, Longuini VC, Lourenço DM Jr, Toledo SP, Stratakis CA. Assessing the emerging oncogene protein kinase C epsilon as a candidate gene in families with Carney complex-2. Clin Endocrinol (Oxf). 2012;76:147-8.

Almeida MQ, Harran M, Bimpaki EI, Hsiao HP, Horvath A, Cheadle C, Watkins T, Nesterova M, Stratakis CA. Integrated genomic analysis of nodular tissue in macronodular adrenocortical hyperplasia: progression of tumorigenesis in a disorder associated with multiple benign lesions. J Clin Endocrinol Metab. 2011;96:E728-38.

Libé R, Horvath A, Vezzosi D, Fratticci A, Coste J, Perlemoine K, Ragazzon B, Guillaud-Bataille M, Groussin L, Clauser E, Raffin-Sanson ML, Siegel J, Moran J, Drori-Herishanu L, Faucz FR, Lodish M, Nesterova M, Bertagna X, Bertherat J, Stratakis CA. Frequent phosphodiesterase 11A gene (PDE11A) defects in patients with Carney complex (CNC) caused by PRKAR1A mutations: PDE11A may contribute to adrenal and testicular tumors in CNC as a modifier of the phenotype. J Clin Endocrinol Metab. 2011 Jan;96(1):E208-14. doi: 10.1210/jc.2010-1704. Epub 2010 Nov 3.

Faucz FR, Horvath A, Rothenbuhler A, Almeida MQ, Libé R, Raffin-Sanson ML, Bertherat J, Carraro DM, Soares FA, Molina Gde C, Campos AH, Alexandre RB, Bendhack ML, Nesterova M, Stratakis CA. Phosphodiesterase 11A (PDE11A) genetic variants may increase susceptibility to prostatic cancer. J Clin Endocrinol Metab. 2011;96:E135-40.

Stratakis CA, Tichomirowa MA, Boikos S, Azevedo MF, Lodish M, Martari M, Verma S, Daly AF, Raygada M, Keil MF, Papademetriou J, Drori-Herishanu L, Horvath A, Tsang KM, Nesterova M, Franklin S, Vanbellinghen JF, Bours V, Salvatori R, Beckers A. The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes. Clin Genet. 2010;78:457-63.

Horvath A, Faucz F, Finkielstain GP, Nikita ME, Rothenbuhler A, Almeida M, Mericq V, Stratakis CA. Haplotype analysis of the promoter region of phosphodiesterase type 8B (PDE8B) in correlation with inactivating PDE8B mutation and the serum thyroid-stimulating hormone levels. Thyroid. 2010;20:363-7.

Horvath A, Bertherat J, Groussin L, Guillaud-Bataille M, Tsang K, Cazabat L, Libé R, Remmers E, René-Corail F, Faucz F, Clauser E, Calender A, Bertagna X, Carney JA, Stratakis C. Mutations and Polymorphisms in the Gene Encoding Regulatory Subunit Type 1-alpha of Protein Kinase A (PRKAR1A). Hum Mutat 2010;31:369-79.

Drori-Herishanu L, Lodish M, Verma S, Bimpaki E, Keil MF, Horvath A, Stratakis CA. The growth hormone receptor (GHR) polymorphism in growth-retarded children with Cushing disease: lack of association with growth and measures of the somatotropic axis. Horm Metab Res. 2010;42:194-7.

Louiset E, Gobet F, Libé R, Horvath A, Renouf S, Cariou J, Rothenbuhler A, Bertherat J, Clauser E, Grise P, Stratakis CA, Kuhn JM, Lefebvre H. ACTH-independent Cushing's syndrome with bilateral micronodular adrenal hyperplasia and ectopic adrenocortical adenoma. J Clin Endocrinol Metab. 2010 Jan;95(1):18-24.

Pereira AM, Hes FJ, Horvath A, Woortman S, Greene E, Bimpaki E, Alatsatianos A, Boikos S, Smit JW, Romijn JA, Nesterova M, Stratakis CA. Association of the M1V PRKAR1A mutation with primary pigmented nodular adrenocortical disease in two large families. J Clin Endocrinol Metab. 2010;95:338-42.

Horvath A, Korde L, Greene MH, Libe R, Osorio P, Faucz FR, Raffin-Sanson ML, Tsang KM, Drori-Herishanu L, Patronas Y, Remmers EF, Nikita ME, Moran J, Greene J, Nesterova M, Merino M, Bertherat J, Stratakis CA. Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors. Cancer Res 2009;69:5301-6.

Drori-Herishanu L, Horvath A, Nesterova M, Patronas Y, Lodish M, Bimpaki E, Patronas N, Agarwal S, Salvatori R, Martari M, Mericq V, Stratakis CA. An Intronic mutation is associated with prolactinoma in a young boy, decreased penetrance in his large family, and variable effects on MEN1 mRNA and protein. Horm Metab Res. 2009;41:630-4.

Bertherat J, Horvath A, Groussin L, Grabar S, Boikos S, Cazabat L, Libe R, René-Corail F, Stergiopoulos S, Bourdeau I, Bei T, Clauser E, Calender A, Kirschner LS, Bertagna X, Carney JA, Stratakis CA. Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. J Clin Endocrinol Metab. 2009;94:2085-91.

Horvath A, Mericq V & Stratakis CA. Mutation in PDE8B, a Cyclic AMP–Specific Phosphodiesterase in Adrenal Hyperplasia. New England Journal of Medicine 2008;358:750-2.

Libé R, Fratticci A, Coste J, Tissier F, Horvath A, Ragazzon B, Rene-Corail F, Groussin L, Bertagna X, Raffin-Sanson ML, Stratakis CA, Bertherat J. Phosphodiesterase 11A (PDE11A) and genetic predisposition to adrenocortical tumors. Clin Cancer Res. 2008;14:4016-24.

Horvath A, Giatzakis C, Tsang K, Greene E, Osorio P, Boikos S, Libè R, Patronas Y, Robinson-White A, Remmers E, Bertherat J, Nesterova M & Stratakis CA. A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex. European Journal of Human Genetics 2008,16:1245–53.

Boikos SA, Horvath A, Heyerdahl S, Stein E, Robinson-White A, Bossis I, Bertherat J, Carney JA, Stratakis CA. Phosphodiesterase 11A expression in the adrenal cortex, primary pigmented nodular adrenocortical disease, and other corticotropin-independent lesions. Horm Metab Res. 2008 May;40(5):347-53.

Meoli E, Bossis I, Cazabat L, Mavrakis M, Horvath A, Stergiopoulos S, Shiferaw ML, Fumey G, Perlemoine K, Muchow M, Robinson-White A, Weinberg F, Nesterova M, Patronas Y, Groussin L, Bertherat J, Stratakis CA. Protein kinase A effects of an expressed PRKAR1A mutation associated with aggressive tumors.Cancer Res. 2008;68:3133-41.

Tadjine M, Lampron A, Ouadi L, Horvath A, Stratakis CA, Bourdeau I. Detection of somatic beta-catenin mutations in primary pigmented nodular adrenocortical disease (PPNAD). Clin Endocrinol (Oxf). 2008;69:367-73.

Heyerdahl SL, Boikos S, Horvath A, Giatzakis C, Bossis I, Stratakis CA. Protein kinase A subunit expression is altered in Bloom syndrome fibroblasts and the BLM protein is increased in adrenocortical hyperplasias: inverse findings for BLM and PRKAR1A. Horm Metab Res. 2008;40:391-7.

Greene EL, Horvath A, Nesterova M, Giatzakis C, Bossis I, Stratakis CA. In vitro functional studies of naturally occurring pathogenic PRKAR1A mutations that are not subject to nonsense mRNA decay. Hum Mutat. 2008;29:633-9.

Nesterova M, Bossis I, Wen F, Horvath A, Matyakhina L, Stratakis CA. An immortalized human cell line bearing a PRKAR1A-inactivating mutation: effects of overexpression of the wild-type Allele and other protein kinase A subunits. J Clin Endocrinol Metab. 2008;93:565-71.

Wieacker P, Stratakis CA, Horvath A, Klose S, Nickel I, Buhtz P, Muschke P. Male infertility as a component of Carney complex. Andrologia. 2007;39:196-7.

Shi Z, Henwood MJ, Bannerman P, Batista D, Horvath A, Guttenberg M, Stratakis CA, Grimberg A. Primary pigmented nodular adrenocortical disease reveals insulin-like growth factor binding protein-2 regulation by protein kinase A. Growth Horm IGF Res. 2007;17:113-21.

Horvath A, Boikos S, Giatzakis C, Robinson-White A, Groussin L, Griffin KJ, Stein E, Levine E, Delimpasi G, Hsiao HP, Keil M, Heyerdahl S, Matyakhina L, Libe R, Fratticci A, Kirschner LS, Bertagna X, Carney JA, Bertherat J, Bossis I, Stratakis CA. A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nature Genetics 2006;38:794-800.

Horvath A, Giatzakis C, Robinson-White A, Boikos S, Griffin K, Stein E, Kamvissi V, Soni P, Bossis I, de Herder W, Carney J, Bertherat, J, Gregersen P, Remmers E, Stratakis C. Adrenocortical hyperplasia or adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population Cancer Research 2006;66:1-5.

Horvath A, Bossis I, Giatzakis C, Levine E, Weinberg F, Meoli E, Robinson-White A, Siegel J, Soni P, Groussin L, Matyakhina L, Verma S, Remmers E, Nesterova M, Carney JA, Bertherat J, Stratakis CA. Large Deletions of the PRKAR1A Gene in Carney Complex. Clin Cancer Res 2008;14:388-95.

Robinson-White A, Meoli E, Stergiopoulos S, Horvath A, Boikos S, Bossis I, Stratakis CA. PRKAR1A Mutations and protein kinase A interactions with other signaling pathways in the adrenal cortex. J Clin Endocrinol Metab. 2006;91:2380-8.

Groussin L, Horvath A, Jullian E, Boikos S, Rene-Corail F, Lefebvre H, Cephise-Velayoudom FL, Vantyghem MC, Chanson P, Conte-Devolx B, Lucas M, Gentil A, Malchoff CD, Tissier F, Carney JA, Bertagna X, Stratakis CA, Bertherat J. A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. J Clin Endocrinol Metab. 2006;91:1943-9.

Horvath A, Mathyakina L, Vong Q, Baxendale V, Pang AL, Chan WY, Stratakis CA. Serial analysis of gene expression in adrenocortical hyperplasia caused by a germline PRKAR1A mutation. J Clin Endocrinol Metab. 2006;91:584-96.

Andonova IE, Sarueva RB, Horvath A, Simeonov VA, Dimitrov PS, Petropoulos EA, Ganev VS. Balkan endemic nephropathy and genetic variants of glutathione S-transferases. J Nephrol. 2004;17:390-8.

Mihaylov VA, Horvath A, Savov AS, Kurshelova EF, Paskaleva ID, Goudev AR, Stoilov IR, Ganev VS. Screening for point mutations in the LDL receptor gene in Bulgarian patients with severe hypercholesterolemia. J Hum Genet. 2004;49:173-6.

Horvath A, Chorbov V, Zaharova B, Ganev V. Five polymorphisms of the apolipoprotein B gene in healthy Bulgarians. Hum Biol. 2003;75:69-80.

Upham BL, Koski TR, Rummel AM, Wilson MR, Horvath A, Trosko JE. Differential roles of 2, 6, and 8 carbon ceramides on the modulation of gap junctional communication and apoptosis during carcinogenesis. Cancer Lett. 2003;191:27-34.

Abouzied MM, Horvath A, Podlesny PM, Regina NP, Metodiev VD, Kamenova-Tozeva RM, Niagolova ND, Stein AD, Petropoulos EA, Ganev VS. Ochratoxin A concentrations in food and feed from a region with Balkan Endemic Nephropathy. Food Addit Contam. 2002;19:755-64.

Horvath A, Upham BL, Ganev V, Trosko JE. Determination of the epigenetic effects of ochratoxin in a human kidney and a rat liver epithelial cell line. Toxicon. 2002;40:273-82.

Horvath A, Kirov SA, Karaulanov EE, Ganev VS. Detection of apoB-100 R3500Q mutation by competitive allele-specific polymerase chain reaction. J Clin Lab Anal. 2001;15(5):256-9.

Horvath A, Savov A, Kirov S, Karshelova E, Paskaleva I, Goudev A, Ganev V. High frequency of the ApoB-100 R3500Q mutation in Bulgarian hypercholesterolaemic subjects. J Med Genet. 2001;38:536-40.

Horvath A, Ganev V. The mutation APOB-100 R3500Q in Eastern Europe. Atherosclerosis. 2001;156:241-2.


Invited Reviews

Azevedo MF, Faucz FR, Bimpaki E, Horvath A, Levy I, de Alexandre RB, Kahn FA, Manganiello V, Stratakis CA. Clinical and Molecular Genetics of the Phosphodiesterases (PDEs). Endocr Rev. 2014;35:195-233

Levy I, Horvath A, Azevedo M, de Alexandre RB, Stratakis CA.Phosphodiesterase function and endocrine cells: links to human disease and roles in tumor development and treatment. Curr Opin Pharmacol. 2011;11:689-97.

Horvath A, Stratakis C. Basic molecular techniques for the detection of single nucleotide polymorphisms: genome-wide applications in search for endocrine tumor related genes. Methods Mol Biol. 2009;590:143-63.

Horvath A, Stratakis CA. Carney complex and lentiginosis. Pigment Cell Melanoma Res. 2009;22:580-7.

Stratakis C & Horvath A. How the new tools to analyze the human genome are opening new perspectives: The use of gene expression arrays in investigations of the adrenal cortex. Annales d’Endocrinologie 2008;69:123-9.

Horvath A & Stratakis C. Unravelling the molecular basis of micronodular adrenal hyperplasia. Current Opinion in Endocrinology and Diabetes, 2008;15:227-33

Horvath A & Stratakis C. Clinical and molecular genetics of acromegaly: MEN1, Carney complex, McCune-Albright syndrome, familial acromegaly and genetic defects in sporadic tumors. Rev Endocr Metab Disord. 2008;9:1-11.

Horvath A & Stratakis C. Primary pigmented nodular adrenocortical disease and Cushing's syndrome. Arq Bras Endocrinol Metabol. 2007;51:1238-1244.


Invited Books & Chapters

Horvath A, and StratakisS, C. Molecular Genetics of Carney Complex. In: eLS Citable Reviews in Life Sciences. John Wiley & Sons, Inc. Mar 2013.

Stratakis CA, Horvath A. Carney Complex. In: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews. Seattle (WA): University of Washington, Seattle; 1993-2003. Feb 5 2010.

Horvath A and Stratakis C: Chapter “Basic Molecular Techniques for the Detection of Single Nucleotide Polymorphisms: genome-wide applications in search for endocrine tumor related genes” Humana Press Inc, 2009.

Horvath A and Stratakis C.: Chapter “Gene expression analysis of the adrenal cortex in health and disease” Humana Press Inc, 2008.


Selected Platform Oral Presentations

Horvath A. In and Out of Exome & Transcriptome; 3rd Annual meeting GCGC, Lisbon, Portugal, Sep 18-20 2013.

Horvath A. Breast Cancer Genomic Variance through RNA-sequencing; 3rd Annual meeting GCGC, Lisbon, Portugal, Sep 18-20 2013.

Horvath A. In and Out of the Transcriptome; 2nd Annual meeting GCGC, Mumbai, India, Nov 19-20 2012.

Horvath A. RNA-sequencing reveals Novel Splicing Alterations in Breast Cancer; 2nd Annual meeting GCGC, Mumbai, India, Nov 19-20 2012.

Horvath A. Other Players – PDE11A, PDE8B, PDE7A, PRKACB and Human Disease; PDE2011: 2nd International Workshop on cAMP Protein Kinase and Phosphodiesterases, Bethesda, MD, June 8-10th 2011.

Horvath A. PDE8B and PDE7A, in adrenocortical tumors; PDE2009: 1st International Workshop on cAMP Protein Kinase and Phosphodiesterases, Bethesda, MD, June 14-16th 2009.

Horvath A. Familial Testicular Germ Cell Tumors and PDE11A Mutations. The American Society of Human Genetics (ASHG) 58th Annual Meeting, Philadelphia, USA, Nov 11-15, 2008.

Horvath A.Missense Mutations in PDE11A Segregate with the Disease in Kindreds with Testicular Cancer. ENDO Annual Meeting, San Francisco, USA, 2008.

Horvath A, PDE8B, a high affinity cAMP-specific phosphodiesterase, is mutant in adrenal hyperplasia associated with Cushing syndrome. The ASHG 57th Annual Meeting, San Diego, USA, Oct 23-27, 2007.

Horvath A. Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population. ENDO Annual Meeting, Toronto, Canada, 2007

Horvath A. Adrenocortical adenomas are associated with inhibition of phosphodiesterase 11A, PDE11A sequence variants and are present in pde11a+/- mice. The ASHG 56th Annual Meeting, New Orleans, USA, Oct 9-13, 2006.

Horvath A. PRKAR1A mutations leading to Carney complex, PPNAD and related disorders: Analysis of the largest database to date, identification of large gene rearrangements and other novel disease-causing alterations, and functional characterization of expressed mutants. The American Society of HumanGenetics (ASHG) 55th Annual Meeting, Salt Lake City, USA, Oct 26-30, 2005.

Horvath A. Gene Expression Profiling of Human Normal Adrenocortical Tissue and PPNAD – affected pathways. Pediatric Academic Society (PAS) Annual Meeting, Washington, DC. May 14-17, 2005.

Horvath A. SAGE on adrenocortical hyperplasia.The American Society of Human Genetics (ASHG) 54th Annual Meeting, Toronto, Canada Oct 26-30, 2004.

Horvath A. Genetic Heterogeneity of Familial Hypercholesterolemia in Bulgaria. Balkan Meething on Human Genetics, Sofia, Bulgaria, June 2003.


View complete list of publications on PubMed