Anelia Horvath - Publications

Affiliations: 
Biomedical Sciences The George Washington University, Washington, DC, United States 
Area:
Oncology, Bioinformatics Biology, Molecular Biology

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Year Citation  Score
2020 Słowiński P, Li M, Restrepo P, Alomran N, Spurr LF, Miller C, Tsaneva-Atanasova K, Horvath A. GeTallele: A Method for Analysis of DNA and RNA Allele Frequency Distributions. Frontiers in Bioengineering and Biotechnology. 8: 1021. PMID 33042959 DOI: 10.3389/Fbioe.2020.01021  0.442
2020 M PN, Liu H, Bousounis P, Spurr L, Alomran N, Ibeawuchi H, Sein J, Reece-Stremtan D, Horvath A. Estimating the Allele-Specific Expression of SNVs From 10× Genomics Single-Cell RNA-Sequencing Data. Genes. 11. PMID 32106453 DOI: 10.3390/Genes11030240  0.424
2019 Spurr L, Alomran N, Bousounis P, Reece-Stremtan D, Prashant NM, Liu H, Słowiński P, Li M, Zhang Q, Sein J, Asher G, Crandall KA, Tsaneva-Atanasova K, Horvath A. ReQTL: Identifying correlations between expressed SNVs and gene expression using RNA-sequencing data. Bioinformatics (Oxford, England). PMID 31589315 DOI: 10.1093/Bioinformatics/Btz750  0.427
2018 Spurr L, Li M, Alomran N, Zhang Q, Restrepo P, Movassagh M, Trenkov C, Tunnessen N, Apanasovich T, Crandall KA, Edwards N, Horvath A. Systematic pan-cancer analysis of somatic allele frequency. Scientific Reports. 8: 7735. PMID 29769535 DOI: 10.1038/S41598-018-25462-0  0.448
2017 Restrepo P, Movassagh M, Alomran N, Miller C, Li M, Trenkov C, Manchev Y, Bahl S, Warnken S, Spurr L, Apanasovich T, Crandall K, Edwards N, Horvath A. Overexpressed somatic alleles are enriched in functional elements in Breast Cancer. Scientific Reports. 7: 8287. PMID 28811643 DOI: 10.1038/S41598-017-08416-W  0.49
2017 Wang BD, Ceniccola K, Hwang S, Andrawis R, Horvath A, Freedman JA, Olender J, Knapp S, Ching T, Garmire L, Patel V, Garcia-Blanco MA, Patierno SR, Lee NH. Alternative splicing promotes tumour aggressiveness and drug resistance in African American prostate cancer. Nature Communications. 8: 15921. PMID 28665395 DOI: 10.1038/Ncomms15921  0.377
2017 Movassagh M, Mudvari P, Horvath A. Co-Occurrence of COMT and BRCA1/2 Variants in a Population. The New England Journal of Medicine. 376: 2090-2091. PMID 28538113 DOI: 10.1056/Nejmc1701592  0.71
2016 Movassagh M, Alomran N, Mudvari P, Dede M, Dede C, Kowsari K, Restrepo P, Cauley E, Bahl S, Li M, Waterhouse W, Tsaneva-Atanasova K, Edwards N, Horvath A. RNA2DNAlign: nucleotide resolution allele asymmetries through quantitative assessment of RNA and DNA paired sequencing data. Nucleic Acids Research. PMID 27576531 DOI: 10.1093/Nar/Gkw757  0.685
2015 Shellman YG, Lambert KA, Brauweiler A, Fain P, Spritz RA, Martini M, Janssen KP, Box NF, Terzian T, Rewers M, Horvath A, Stratakis CA, Robinson WA, Robinson SE, Norris DA, et al. SASH1 is Involved in an Autosomal Dominant Lentiginous Phenotype. The Journal of Investigative Dermatology. PMID 26203640 DOI: 10.1038/Jid.2015.292  0.329
2015 de Alexandre RB, Horvath AD, Szarek E, Manning AD, Leal LF, Kardauke F, Epstein JA, Carraro DM, Soares FA, Apanasovich TV, Stratakis CA, Faucz FR. Phosphodiesterase sequence variants may predispose to prostate cancer. Endocrine-Related Cancer. 22: 519-30. PMID 25979379 DOI: 10.1530/Erc-15-0134  0.421
2015 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 (Oxford, England). 31: 1191-8. PMID 25481010 DOI: 10.1093/Bioinformatics/Btu804  0.715
2014 Azevedo MF, Faucz FR, Bimpaki E, Horvath A, Levy I, de Alexandre RB, Ahmad F, Manganiello V, Stratakis CA. Clinical and molecular genetics of the phosphodiesterases (PDEs). Endocrine Reviews. 35: 195-233. PMID 24311737 DOI: 10.1210/Er.2013-1053  0.367
2014 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, et al. Deletions of the PRKAR1A locus at 17q24.2-q24.3 in Carney complex: genotype-phenotype correlations and implications for genetic testing. The Journal of Clinical Endocrinology and Metabolism. 99: E183-8. PMID 24170103 DOI: 10.1210/Jc.2013-3159  0.348
2014 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, et al. Systematic screening for PRKAR1A gene rearrangement in Carney complex: identification and functional characterization of a new in-frame deletion. European Journal of Endocrinology / European Federation of Endocrine Societies. 170: 151-60. PMID 24144965 DOI: 10.1530/Eje-13-0740  0.384
2014 Movassagh M, Mudvari P, Kokkinaki M, Edwards NJ, Golestaneh N, Horvath A. Analysis for co-occurring sequence features identifies link between common synonymous variant and an early-terminated NPC1 isoform Journal of Clinical Bioinformatics. 4: 14. DOI: 10.1186/2043-9113-4-14  0.75
2013 Mudvari P, Kowsari K, Cole C, Mazumder R, Horvath A. Extraction of Molecular Features through Exome to Transcriptome Alignment. Journal of Metabolomics and Systems Biology. 1. PMID 24791251 DOI: 10.13188/2329-1583.1000002  0.718
2013 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. 8: e74993. PMID 24086418 DOI: 10.1371/Journal.Pone.0074993  0.714
2013 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. 8: e66585. PMID 23950862 DOI: 10.1371/Journal.Pone.0066585  0.305
2013 Horvath A, Pakala SB, Mudvari P, Reddy SD, Ohshiro K, Casimiro S, Pires R, Fuqua SA, Toi M, Costa L, Nair SS, Sukumar S, Kumar R. Novel insights into breast cancer genetic variance through RNA sequencing. Scientific Reports. 3: 2256. PMID 23884293 DOI: 10.1038/Srep02256  0.754
2013 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. The Journal of Clinical Endocrinology and Metabolism. 98: E1393-400. PMID 23771924 DOI: 10.1210/Jc.2012-2838  0.368
2013 Eswaran J, Horvath A, Godbole S, Reddy SD, Mudvari P, Ohshiro K, Cyanam D, Nair S, Fuqua SA, Polyak K, Florea LD, Kumar R. RNA sequencing of cancer reveals novel splicing alterations. Scientific Reports. 3: 1689. PMID 23604310 DOI: 10.1038/Srep01689  0.739
2013 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. European Journal of Endocrinology / European Federation of Endocrine Societies. 168: 67-74. PMID 23065993 DOI: 10.1530/Eje-12-0594  0.32
2013 Kumar R, Horvath A, Mazumder R, Toi M, Sato F, Pillai MR, Costa L, Carmo-Fonseca M, Knapp S, Dutt A, Gupta S, Badwe R. The Global Cancer Genomics Consortium's Second Annual Symposium: Genomics Medicine in Cancer Research Genes and Cancer. 4: 196-200. DOI: 10.1177/1947601913484582  0.327
2012 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. The Journal of Clinical Endocrinology and Metabolism. 97: E2063-9. PMID 22996146 DOI: 10.1210/Jc.2012-2275  0.356
2012 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. Journal of Pediatric Endocrinology & Metabolism : Jpem. 25: 213-9. PMID 22570980 DOI: 10.1515/Jpem.2011.371  0.333
2012 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. Endocrine-Related Cancer. 19: 457-462. PMID 22461635 DOI: 10.1530/Erc-11-0328  0.399
2012 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. Clinical Endocrinology. 77: 195-9. PMID 22335482 DOI: 10.1111/J.1365-2265.2012.04366.X  0.367
2012 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. Endocrine-Related Cancer. 19: 255-60. PMID 22323562 DOI: 10.1530/Erc-12-0022  0.378
2012 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. The Journal of Clinical Endocrinology and Metabolism. 97: E687-93. PMID 22259056 DOI: 10.1210/Jc.2011-3000  0.34
2012 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. The Journal of Clinical Endocrinology and Metabolism. 97: E496-502. PMID 22205709 DOI: 10.1210/Jc.2011-2220  0.367
2012 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. The Journal of Clinical Endocrinology and Metabolism. 97: 351-9. PMID 22112814 DOI: 10.1210/Jc.2011-2244  0.408
2012 Saloustros E, Mertz E, Nesterova M, Keil M, Horvath A, Nadella K, Holmbeck K, Liu S, Mandas V, Shikha K, Leikin S, Robey P, Stratakis CA. Abstract 954: COX-2 inhibition reduces bone tumor growth in animal models:A role for celecoxib treatment in cAMP/protein kinase A-induced tumors Cancer Research. 72: 954-954. DOI: 10.1158/1538-7445.Am2012-954  0.332
2011 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. Current Opinion in Pharmacology. 11: 689-97. PMID 22047791 DOI: 10.1016/J.Coph.2011.10.003  0.33
2011 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. The Journal of Clinical Endocrinology and Metabolism. 96: E1905-14. PMID 21917868 DOI: 10.1210/Jc.2011-1127  0.372
2011 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, et al. Pancreatic ductal and acinar cell neoplasms in Carney complex: a possible new association. The Journal of Clinical Endocrinology and Metabolism. 96: E1888-95. PMID 21900385 DOI: 10.1210/Jc.2011-1433  0.323
2011 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, et al. 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. The Journal of Clinical Endocrinology and Metabolism. 96: E208-14. PMID 21047926 DOI: 10.1210/Jc.2010-1704  0.385
2011 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. The Journal of Clinical Endocrinology and Metabolism. 96: E135-40. PMID 20881257 DOI: 10.1210/jc.2010-1655  0.338
2010 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, et al. 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 Clinical Genetics. 78: 457-463. PMID 20507346 DOI: 10.1111/J.1399-0004.2010.01406.X  0.334
2010 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 : Official Journal of the American Thyroid Association. 20: 363-7. PMID 20373981 DOI: 10.1089/Thy.2009.0260  0.328
2010 Horvath A, Bertherat J, Groussin L, Guillaud-Bataille M, Tsang K, Cazabat L, Libé R, Remmers E, René-Corail F, Faucz FR, Clauser E, Calender A, Bertagna X, Carney JA, Stratakis CA. Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update. Human Mutation. 31: 369-79. PMID 20358582 DOI: 10.1002/Humu.21178  0.416
2010 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. The Journal of Clinical Endocrinology and Metabolism. 95: 338-42. PMID 19915019 DOI: 10.1210/Jc.2009-0993  0.321
2009 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 in Molecular Biology (Clifton, N.J.). 590: 143-63. PMID 19763502 DOI: 10.1007/978-1-60327-378-7_9  0.343
2009 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, et al. Functional phosphodiesterase 11A mutations may modify the risk of familial and bilateral testicular germ cell tumors. Cancer Research. 69: 5301-6. PMID 19549888 DOI: 10.1158/0008-5472.Can-09-0884  0.424
2009 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. Hormone and Metabolic Research. 41: 630-634. PMID 19391077 DOI: 10.1055/S-0029-1216358  0.412
2009 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, et al. Mutations in regulatory subunit type 1A of cyclic adenosine 5'-monophosphate-dependent protein kinase (PRKAR1A): phenotype analysis in 353 patients and 80 different genotypes. The Journal of Clinical Endocrinology and Metabolism. 94: 2085-91. PMID 19293268 DOI: 10.1210/Jc.2008-2333  0.398
2008 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. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. 14: 4016-24. PMID 18559625 DOI: 10.1158/1078-0432.Ccr-08-0106  0.389
2008 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. Hormone and Metabolic Research. 40: 347-353. PMID 18491255 DOI: 10.1055/S-2008-1076694  0.385
2008 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 : Ejhg. 16: 1245-53. PMID 18431404 DOI: 10.1038/Ejhg.2008.85  0.428
2008 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). Clinical Endocrinology. 69: 367-73. PMID 18419788 DOI: 10.1111/J.1365-2265.2008.03273.X  0.327
2008 Horvath A, Mericq V, Stratakis CA. Mutation in PDE8B, a cyclic AMP-specific phosphodiesterase in adrenal hyperplasia. The New England Journal of Medicine. 358: 750-2. PMID 18272904 DOI: 10.1056/Nejmc0706182  0.328
2008 Horvath A, Stratakis CA. Clinical and molecular genetics of acromegaly: MEN1, Carney complex, McCune-Albright syndrome, familial acromegaly and genetic defects in sporadic tumors. Reviews in Endocrine & Metabolic Disorders. 9: 1-11. PMID 18200440 DOI: 10.1007/S11154-007-9066-9  0.337
2008 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. The Journal of Clinical Endocrinology and Metabolism. 93: 565-71. PMID 18056771 DOI: 10.1210/Jc.2007-1902  0.344
2007 Horvath A, Stratakis C. Primary pigmented nodular adrenocortical disease and Cushing's syndrome. Arquivos Brasileiros De Endocrinologia E Metabologia. 51: 1238-44. PMID 18209861 DOI: 10.1590/S0004-27302007000800009  0.304
2006 Horvath A, Giatzakis C, Robinson-White A, Boikos S, Levine E, Griffin K, Stein E, Kamvissi V, Soni P, Bossis I, de Herder W, Carney JA, Bertherat J, Gregersen PK, Remmers EF, et al. Adrenal hyperplasia and adenomas are associated with inhibition of phosphodiesterase 11A in carriers of PDE11A sequence variants that are frequent in the population. Cancer Research. 66: 11571-5. PMID 17178847 DOI: 10.1158/0008-5472.Can-06-2914  0.445
2006 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, Libè R, Fratticci A, et al. A genome-wide scan identifies mutations in the gene encoding phosphodiesterase 11A4 (PDE11A) in individuals with adrenocortical hyperplasia. Nature Genetics. 38: 794-800. PMID 16767104 DOI: 10.1038/Ng1809  0.423
2006 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. The Journal of Clinical Endocrinology and Metabolism. 91: 2380-8. PMID 16569736 DOI: 10.1210/Jc.2006-0188  0.335
2006 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, et al. A PRKAR1A mutation associated with primary pigmented nodular adrenocortical disease in 12 kindreds. The Journal of Clinical Endocrinology and Metabolism. 91: 1943-9. PMID 16464939 DOI: 10.1210/Jc.2005-2708  0.361
2006 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. The Journal of Clinical Endocrinology and Metabolism. 91: 584-96. PMID 16278264 DOI: 10.1210/Jc.2005-1301  0.374
2001 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 [4] Journal of Medical Genetics. 38: 536-540. PMID 11494965 DOI: 10.1136/Jmg.38.8.536  0.344
2001 Horvath A, Ganev V. The mutation APOB-100 R3500Q in Eastern Europe [2] Atherosclerosis. 156: 241-242. PMID 11417523 DOI: 10.1016/S0021-9150(01)00482-8  0.312
Low-probability matches (unlikely to be authored by this person)
2013 Saloustros E, Salpea P, Gugglioti L, Tsang K, Horvath A, Nesterova M, Qi C, Morse HC, Stratakis CA. Abstract 3854: Novel hematopoietic neoplasms in prkar2a- deficient mice. Cancer Research. 73: 3854-3854. DOI: 10.1158/1538-7445.Am2013-3854  0.297
2007 Wieacker P, Stratakis CA, Horvath A, Klose S, Nickel I, Muschke P. Male infertility as a component of Carney complex Andrologia. 39: 196-197. PMID 17714219 DOI: 10.1111/J.1439-0272.2007.00784.X  0.296
2003 Horvath A, Chorbov V, Zaharova B, Ganev V. Five polymorphisms of the apolipoprotein B gene in healthy bulgarians Human Biology. 75: 69-80. PMID 12713147 DOI: 10.1353/Hub.2003.0022  0.295
2008 Horvath A, Stratakis CA. Unraveling the molecular basis of micronodular adrenal hyperplasia. Current Opinion in Endocrinology, Diabetes, and Obesity. 15: 227-33. PMID 18438169 DOI: 10.1097/Med.0B013E3282Fe7416  0.292
2021 N M P, Liu H, Dillard C, Ibeawuchi H, Alsaeedy T, Chan H, Horvath AD. Improved SNV Discovery in Barcode-Stratified scRNA-seq Alignments. Genes. 12. PMID 34680953 DOI: 10.3390/genes12101558  0.291
2012 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, et al. Succinate dehydrogenase (SDH) D subunit (SDHD) inactivation in a growth-hormone-producing pituitary tumor: a new association for SDH? The Journal of Clinical Endocrinology and Metabolism. 97: E357-66. PMID 22170724 DOI: 10.1210/Jc.2011-1179  0.288
2020 Maynard TM, Horvath A, Bernout J, Karpinski BA, Tavares ALP, Shah A, Zheng Q, Spurr L, Olender J, Moody SA, Fraser CM, LaMantia AS, Lee NH. Transcriptional dysregulation in developing trigeminal sensory neurons in the LgDel mouse model of DiGeorge 22q11.2 Deletion Syndrome. Human Molecular Genetics. PMID 32047912 DOI: 10.1093/Hmg/Ddaa024  0.288
2006 Horvath A, Boikos S, Cramer K, Stratakis C. Genome-wide analysis of data generated on the Affymetrix 10K Xba 142 arrays for identification of regions with high probability to contain genes responsible for Micronodular (non-pigmented) Adrenocortical Hyperplasia Nature Protocols. DOI: 10.1038/Nprot.2006.135  0.287
2021 Liu H, Prashant NM, Spurr LF, Bousounis P, Alomran N, Ibeawuchi H, Sein J, Słowiński P, Tsaneva-Atanasova K, Horvath A. scReQTL: an approach to correlate SNVs to gene expression from individual scRNA-seq datasets. Bmc Genomics. 22: 40. PMID 33419390 DOI: 10.1186/s12864-020-07334-y  0.285
2014 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, ... ... Horvath A, et al. Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. The New England Journal of Medicine. 371: 2363-74. PMID 25470569 DOI: 10.1056/Nejmoa1408028  0.284
2017 Chen J, Zaidi S, Rao S, Chen JS, Phan L, Farci P, Su X, Shetty K, White J, Zamboni F, Wu X, Rashid A, Pattabiraman N, Mazumder R, Horvath A, et al. Analysis of Genomes and Transcriptomes of Hepatocellular Carcinomas Identifies Mutations and Gene Expression Changes in the Transforming Growth Factor beta Pathway Short title: Prognostic significance of TGF-β signature in liver cancer. Gastroenterology. PMID 28918914 DOI: 10.1053/J.Gastro.2017.09.007  0.279
2009 Horvath A, Stratakis CA. Carney complex and lentiginosis. Pigment Cell & Melanoma Research. 22: 580-7. PMID 19650827 DOI: 10.1111/J.1755-148X.2009.00613.X  0.278
2019 Rao S, Shetty K, Deng C, Jogunoori W, Amdur R, Resar LS, Latham P, Mazumder R, Horvath A, Nguyen B, Zaidi S, Li S, Yu H, Wong LL, White J, et al. Mo1435 – Pathway Specific Functional Biomarkers for the Early Detection of Liver Cancer Gastroenterology. 156: S-1306. DOI: 10.1016/S0016-5085(19)40276-X  0.277
2019 Shetty K, Deng C, Jogunoori WS, Amdur R, Resar LS, Latham P, Mazumder R, Horvath A, Nguyen B, Li S, Wu X, Yu H, Wong LL, White J, Silver S, et al. Abstract 3156: Pathway Specific Functional Biomarkers for the Early Detection of Liver Cancer Cancer Research. 79: 3156-3156. DOI: 10.1158/1538-7445.Sabcs18-3156  0.277
2007 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 Hormone & Igf Research : Official Journal of the Growth Hormone Research Society and the International Igf Research Society. 17: 113-21. PMID 17280861 DOI: 10.1016/J.Ghir.2006.12.004  0.276
2011 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. The Journal of Clinical Endocrinology and Metabolism. 96: E728-38. PMID 21252250 DOI: 10.1210/Jc.2010-2420  0.275
2001 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. 40: 273-282. PMID 11711124 DOI: 10.1016/S0041-0101(01)00219-7  0.274
2015 Faucz FR, Horvath AD, 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, et al. Is IGSF1 involved in human pituitary tumor formation? Endocrine-Related Cancer. 22: 47-54. PMID 25527509 DOI: 10.1530/ERC-14-0465  0.274
2012 Saloustros E, Tsang K, Mertz E, Starost M, Nesterova M, Nadella K, Horvath A, Sierra L, Liu S, Cole ME, Holmbeck K, Leikin S, Robey P, Stratakis C. Abstract 1360: A mouse model of double heterozygosity for protein kinase A regulatory subunits promotes osteoblastic differentiation of cAMP-induced bone tumors Cancer Research. 72: 1360-1360. DOI: 10.1158/1538-7445.Am2012-1360  0.269
2021 Prashant NM, Alomran N, Chen Y, Liu H, Bousounis P, Movassagh M, Edwards N, Horvath A. SCReadCounts: estimation of cell-level SNVs expression from scRNA-seq data. Bmc Genomics. 22: 689. PMID 34551708 DOI: 10.1186/s12864-021-07974-8  0.266
2010 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 Hormone and Metabolic Research. 42: 194-197. PMID 20013551 DOI: 10.1055/S-0029-1242744  0.264
2022 Edwards N, Dillard C, N M P, Liu H, Yang M, Ulianova E, Horvath A. SCExecute: custom cell barcode-stratified analyses of scRNA-seq data. Bioinformatics (Oxford, England). PMID 36448703 DOI: 10.1093/bioinformatics/btac768  0.258
2012 Toledo RA, Sekiya T, Horvath A, Faucz F, Fragoso MC, Longuini VC, Lourenço DM, Toledo SP, Stratakis CA. Assessing the emerging oncogene protein kinase C epsilon as a candidate gene in families with Carney complex-2. Clinical Endocrinology. 76: 147-8. PMID 21649687 DOI: 10.1111/J.1365-2265.2011.04144.X  0.257
2015 London E, Wassif CA, Horvath A, Tatsi C, Angelousi A, Karageorgiadis AS, Porter FD, Stratakis CA. Cholesterol biosynthesis and trafficking in cortisol-producing lesions of the adrenal cortex. The Journal of Clinical Endocrinology and Metabolism. jc20152212. PMID 26204136 DOI: 10.1210/Jc.2015-2212  0.257
2017 Wang BD, Ceniccola K, Hwang S, Andrawis R, Horvath A, Freedman JA, Olender J, Knapp S, Ching T, Garmire L, Patel V, Garcia-Blanco MA, Patierno SR, Lee NH. Corrigendum: Alternative splicing promotes tumour aggressiveness and drug resistance in African American prostate cancer. Nature Communications. 8: 16161. PMID 28952599 DOI: 10.1038/Ncomms16161  0.256
2016 Karpinski BA, Bryan C, Paronett E, Baker J, Fernandez A, Horvath A, Maynard TM, Moody SA, LaMantia AS. A cellular and molecular mosaic establishes growth and differentiation states for cranial sensory neurons. Developmental Biology. PMID 26988119 DOI: 10.1016/J.Ydbio.2016.03.015  0.249
2008 Greene EL, Horvath AD, 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. Human Mutation. 29: 633-9. PMID 18241045 DOI: 10.1002/humu.20688  0.248
2010 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. The Journal of Clinical Endocrinology and Metabolism. 95: 18-24. PMID 19915020 DOI: 10.1210/Jc.2009-0881  0.244
2023 Faucz FR, Horvath AD, Assié G, Almeida MQ, Szarek E, Boikos S, Angelousi A, Levy I, Maria AG, Chitnis A, Antonescu C, Claus R, Bertherat J, Plass C, Eng C, et al. Embryonic stem cell factor FOXD3 (Genesis) defects in gastrointestinal stromal tumors. Endocrine-Related Cancer. PMID 37578265 DOI: 10.1530/ERC-23-0067  0.24
2004 Mihaylov VA, Horvath AD, 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 Journal of Human Genetics. 49: 173-176. PMID 15015036 DOI: 10.1007/s10038-004-0127-6  0.236
2020 Zhang M, Jiang N, Chu Y, Postnikova O, Varghese R, Horvath A, Cheema AK, Golestaneh N. Dysregulated metabolic pathways in age-related macular degeneration. Scientific Reports. 10: 2464. PMID 32051464 DOI: 10.1038/S41598-020-59244-4  0.234
2012 Levy I, Starost M, Ball E, Faucz F, Koliavasillis S, Horvath A, Tsang K, Nedella K, Alatsatianos M, Nesterova M, Stratakis C. Phosphodiesterase 11A (PDE11A) Expression in Mouse Tissues and Characterization of a PDE11A Mouse Knock-Out Model Hormone and Metabolic Research. 44. DOI: 10.1055/S-0032-1304243  0.232
2008 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, et al. Large deletions of the PRKAR1A gene in Carney complex. Clinical Cancer Research : An Official Journal of the American Association For Cancer Research. 14: 388-95. PMID 18223213 DOI: 10.1158/1078-0432.CCR-07-1155  0.23
2003 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 Letters. 191: 27-34. PMID 12609706 DOI: 10.1016/S0304-3835(02)00620-1  0.227
2008 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, et al. Protein kinase A effects of an expressed PRKAR1A mutation associated with aggressive tumors. Cancer Research. 68: 3133-41. PMID 18451138 DOI: 10.1158/0008-5472.Can-08-0064  0.223
2022 Valentine H, Aiken W, Morrison B, Zhao Z, Fowle H, Wasserman JS, Thompson E, Chin W, Young M, Clarke S, Gibbs D, Harrison S, McLaughlin W, Kwok T, Jin F, ... ... Horvath A, et al. Expanding the prostate cancer cell line repertoire with ACRJ-PC28, an AR-negative neuroendocrine cell line derived from an African-Caribbean patient. Cancer Research Communications. 2: 1355-1371. PMID 36643868 DOI: 10.1158/2767-9764.crc-22-0245  0.216
2008 Stratakis CA, Horvath A. How the new tools to analyze the human genome are opening new perspectives: the use of gene expression in investigations of the adrenal cortex. Annales D'Endocrinologie. 69: 123-9. PMID 18423555 DOI: 10.1016/j.ando.2008.02.009  0.212
2023 Wu B, Qi L, Chiang HC, Pan H, Zhang X, Greenbaum A, Stark E, Wang LJ, Chen Y, Haddad BR, Clagett D, Isaacs C, Elledge R, Horvath A, Hu Y, et al. BRCA1 deficiency in mature CD8 T lymphocytes impairs antitumor immunity. Journal For Immunotherapy of Cancer. 11. PMID 36731891 DOI: 10.1136/jitc-2022-005852  0.211
2019 Mukhamedova N, Hoang A, Dragoljevic D, Dubrovsky L, Pushkarsky T, Low H, Ditiatkovski M, Fu Y, Ohkawa R, Meikle PJ, Horvath A, Brichacek B, Miller YI, Murphy A, Bukrinsky M, et al. Exosomes containing HIV protein Nef reorganize lipid rafts potentiating inflammatory response in bystander cells. Plos Pathogens. 15: e1007907. PMID 31344124 DOI: 10.1371/Journal.Ppat.1007907  0.209
2021 Haskins IN, Wang BD, Bernot JP, Cauley E, Horvath A, Marks JH, Lee NH, Agarwal S. Genomics of Black American colon cancer disparities: An RNA sequencing (RNA-Seq) study from an academic, tertiary referral center. Surgery. PMID 34016457 DOI: 10.1016/j.surg.2021.03.031  0.197
2004 Andonova IE, Sarueva RB, Horvath AD, Simeonov VA, Dimitrov PS, Petropoulos EA, Ganev VS. Balkan endemic nephropathy and genetic variants of glutathione S-transferases. Journal of Nephrology. 17: 390-8. PMID 15365959  0.179
2017 Horvath A. More on Co-Occurrence of COMT and BRCA1/2 Variants in a Population. The New England Journal of Medicine. 377: 795-6. PMID 28834484 DOI: 10.1056/NEJMc1708425#SA3  0.144
2020 Swiercz AP, Iyer L, Yu Z, Edwards A, Prashant NM, Nguyen BN, Horvath A, Marvar PJ. Evaluation of an angiotensin Type 1 receptor blocker on the reconsolidation of fear memory. Translational Psychiatry. 10: 363. PMID 33110066 DOI: 10.1016/J.Biopsych.2020.02.453  0.131
2021 Garofano K, Park CS, Alarcon C, Avitia J, Barbour A, Diemert D, Fraser CM, Friedman PN, Horvath A, Rashid K, Shaazuddin M, Sidahmed A, O'Brien TJ, Perera MA, Lee NH. Differences in the platelet mRNA landscape portend racial disparities in platelet function and suggest novel therapeutic targets. Clinical Pharmacology and Therapeutics. PMID 34255863 DOI: 10.1002/cpt.2363  0.125
2023 Yende AS, Williams EC, Pletcher A, Helfand A, Ibeawuchi H, North TM, Latham PS, Horvath A, Shibata M. TRIM28 promotes luminal cell plasticity in a mouse model of prostate cancer. Oncogene. PMID 36882525 DOI: 10.1038/s41388-023-02655-0  0.124
2021 Karpinski BA, Maynard TM, Bryan CA, Yitsege G, Horvath A, Lee NH, Moody SA, LaMantia AS. Selective disruption of trigeminal sensory neurogenesis and differentiation in a mouse model of 22q11.2 deletion syndrome. Disease Models & Mechanisms. PMID 33722956 DOI: 10.1242/dmm.047357  0.104
2022 Pressler MP, Horvath A, Entcheva E. Sex-dependent transcription of cardiac electrophysiology and links to acetylation modifiers based on the GTEx database. Frontiers in Cardiovascular Medicine. 9: 941890. PMID 35935618 DOI: 10.3389/fcvm.2022.941890  0.103
2023 Garofano K, Rashid K, Smith M, Brantner C, Suwunnakorn S, Diemert D, Gordon O, Horvath A, Khan S, Popratiloff A, Rhim J, Sidahmed A, Maggirwar SB, O'Brien TJ, Perera MA, et al. Prostate cancer cell-platelet bidirectional signaling promotes calcium mobilization, invasion and apoptotic resistance via distinct receptor-ligand pairs. Scientific Reports. 13: 2864. PMID 36806315 DOI: 10.1038/s41598-023-29450-x  0.096
2020 Maynard TM, Horvath A, Bernot JP, Karpinski BA, Tavares ALP, Shah A, Zheng Q, Spurr L, Olender J, Moody SA, Fraser CM, LaMantia AS, Lee NH. Transcriptional dysregulation in developing trigeminal sensory neurons in the LgDel mouse model of DiGeorge 22q11.2 deletion syndrome. Human Molecular Genetics. PMID 32358605 DOI: 10.1093/hmg/ddaa067  0.088
2022 Dubrovsky L, Brichacek B, Prashant NM, Pushkarsky T, Mukhamedova N, Fleetwood AJ, Xu Y, Dragoljevic D, Fitzgerald M, Horvath A, Murphy AJ, Sviridov D, Bukrinsky MI. Extracellular vesicles carrying HIV-1 Nef induce long-term hyperreactivity of myeloid cells. Cell Reports. 41: 111674. PMID 36417867 DOI: 10.1016/j.celrep.2022.111674  0.071
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