Papp J - Search Results

1

Genome sequencing-based discovery of a novel deep intronic APC pathogenic variant causing exonization.

Bozsik A, Butz H, Grolmusz VK, Polgár C, Patócs A, Papp J. Bozsik A, et al. Among authors: papp j. Eur J Hum Genet. 2023 Jul;31(7):841-845. doi: 10.1038/s41431-023-01322-y. Epub 2023 Feb 24. Eur J Hum Genet. 2023. PMID: 36828923 Free PMC article.

2

A common genetic variation in GZMB may associate with cancer risk in patients with Lynch syndrome.

Grolmusz VK, Nagy P, Likó I, Butz H, Pócza T, Bozsik A, Papp J, Oláh E, Patócs A. Grolmusz VK, et al. Among authors: papp j. Front Oncol. 2023 Feb 20;13:1005066. doi: 10.3389/fonc.2023.1005066. eCollection 2023. Front Oncol. 2023. PMID: 36890824 Free PMC article.

3

Challenging interpretation of germline TP53 variants based on the experience of a national comprehensive cancer centre.

Butz H, Bozsik A, Grolmusz V, Szőcs E, Papp J, Patócs A. Butz H, et al. Among authors: papp j. Sci Rep. 2023 Aug 31;13(1):14259. doi: 10.1038/s41598-023-41481-y. Sci Rep. 2023. PMID: 37653074 Free PMC article.

4

Whole genome sequencing resolves 10 years diagnostic odyssey in familiar myxoma.

Pálla S, Tőke J, Bozsik A, Butz H, Papp J, Likó I, Kuroli E, Bánvölgyi A, Hamar M, Bertherat J, Medvecz M, Patócs A. Pálla S, et al. Among authors: papp j. Sci Rep. 2023 Sep 5;13(1):14658. doi: 10.1038/s41598-023-41878-9. Sci Rep. 2023. PMID: 37670105 Free PMC article.

5

PALB2 Variants Extend the Mutational Profile of Hungarian Patients with Breast and Ovarian Cancer.

Butz H, Nagy P, Papp J, Bozsik A, Grolmusz VK, Pócza T, Oláh E, Patócs A. Butz H, et al. Among authors: papp j. Cancers (Basel). 2023 Aug 31;15(17):4350. doi: 10.3390/cancers15174350. Cancers (Basel). 2023. PMID: 37686625 Free PMC article.

6

Publisher Correction: Whole genome sequencing resolves 10 years diagnostic odyssey in familiar myxoma.

Pálla S, Tőke J, Bozsik A, Butz H, Papp J, Likó I, Kuroli E, Bánvölgyi A, Hamar M, Bertherat J, Medvecz M, Patócs A. Pálla S, et al. Among authors: papp j. Sci Rep. 2023 Sep 28;13(1):16339. doi: 10.1038/s41598-023-43188-6. Sci Rep. 2023. PMID: 37770543 Free PMC article. No abstract available.

7

Spectrum and genotyping strategies of "dark" genetic matter in germline susceptibility genes of tumor syndromes.

Bozsik A, Butz H, Grolmusz VK, Pócza T, Patócs A, Papp J. Bozsik A, et al. Among authors: papp j. Crit Rev Oncol Hematol. 2024 Nov 10;205:104549. doi: 10.1016/j.critrevonc.2024.104549. Online ahead of print. Crit Rev Oncol Hematol. 2024. PMID: 39528122 Free article. Review.

8

Evaluation of an emergency department-based approach to reduce subsequent opioid overdoses.

Reed EN, Papp J, Oh Y, LeVine K, Tarabichi Y, Bastian E, Pollock K, Wilson LD, Siff J, Piktel JS. Reed EN, et al. Among authors: papp j. J Am Coll Emerg Physicians Open. 2024 Oct 22;5(5):e13304. doi: 10.1002/emp2.13304. eCollection 2024 Oct. J Am Coll Emerg Physicians Open. 2024. PMID: 39445120 Free PMC article.

9

A Comparative Study of the Rapid (I_Kr) and Slow (I_Ks) Delayed Rectifier Potassium Currents in Undiseased Human, Dog, Rabbit, and Guinea Pig Cardiac Ventricular Preparations.

Ágoston M, Kohajda Z, Virág L, Baláti B, Nagy N, Lengyel C, Bitay M, Bogáts G, Vereckei A, Papp JG, Varró A, Jost N. Ágoston M, et al. Among authors: papp jg. Pharmaceuticals (Basel). 2024 Aug 20;17(8):1091. doi: 10.3390/ph17081091. Pharmaceuticals (Basel). 2024. PMID: 39204196 Free PMC article.

10

Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder.

Borroto MC, Patel H, Srivastava S, Swanson LC, Keren B, Whalen S, Mignot C, Wang X, Chen Q, Rosenfeld JA, McLean S, Littlejohn RO; Undiagnosed Diseases Network; Emrick L, Burrage LC, Attali R, Lesca G, Acquaviva-Bourdain C, Sarret C, Seaver LH, Platzer K, Bartolomaeus T, Wünsch C, Fischer S, Rodriguez Barreto AM, Granadillo JL, Schreiner E, Brunet T, Schatz UA, Thiffault I, Mullegama SV, Michaud JL, Hamdan FF, Rossignol E, Campeau PM. Borroto MC, et al. Pediatr Neurol. 2024 Nov;160:45-53. doi: 10.1016/j.pediatrneurol.2024.07.010. Epub 2024 Jul 20. Pediatr Neurol. 2024. PMID: 39181022 Free article.

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