Brudno M - Search Results

1

CReSCENT: CanceR Single Cell ExpressioN Toolkit.

Mohanraj S, Díaz-Mejía JJ, Pham MD, Elrick H, Husić M, Rashid S, Luo P, Bal P, Lu K, Patel S, Mahalanabis A, Naidas A, Christensen E, Croucher D, Richards LM, Shooshtari P, Brudno M, Ramani AK, Pugh TJ. Mohanraj S, et al. Among authors: brudno m. Nucleic Acids Res. 2020 Jul 2;48(W1):W372-W379. doi: 10.1093/nar/gkaa437. Nucleic Acids Res. 2020. PMID: 32479601 Free PMC article.

2

Identification of complex genomic rearrangements in cancers using CouGaR.

Dzamba M, Ramani AK, Buczkowicz P, Jiang Y, Yu M, Hawkins C, Brudno M. Dzamba M, et al. Among authors: brudno m. Genome Res. 2017 Jan;27(1):107-117. doi: 10.1101/gr.211201.116. Epub 2016 Nov 14. Genome Res. 2017. PMID: 27986820 Free PMC article.

3

Expanding the Boundaries of RNA Sequencing as a Diagnostic Tool for Rare Mendelian Disease.

Gonorazky HD, Naumenko S, Ramani AK, Nelakuditi V, Mashouri P, Wang P, Kao D, Ohri K, Viththiyapaskaran S, Tarnopolsky MA, Mathews KD, Moore SA, Osorio AN, Villanova D, Kemaladewi DU, Cohn RD, Brudno M, Dowling JJ. Gonorazky HD, et al. Among authors: brudno m. Am J Hum Genet. 2019 Mar 7;104(3):466-483. doi: 10.1016/j.ajhg.2019.01.012. Epub 2019 Feb 28. Am J Hum Genet. 2019. PMID: 30827497 Free PMC article.

4

Control of Long-Term Synaptic Potentiation and Learning by Alternative Splicing of the NMDA Receptor Subunit GluN1.

Sengar AS, Li H, Zhang W, Leung C, Ramani AK, Saw NM, Wang Y, Tu Y, Ross PJ, Scherer SW, Ellis J, Brudno M, Jia Z, Salter MW. Sengar AS, et al. Among authors: brudno m. Cell Rep. 2019 Dec 24;29(13):4285-4294.e5. doi: 10.1016/j.celrep.2019.11.087. Cell Rep. 2019. PMID: 31875540 Free article.

5

Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.

Chang WH, Mashouri P, Lozano AX, Johnstone B, Husić M, Olry A, Maiella S, Balci TB, Sawyer SL, Robinson PN, Rath A, Brudno M. Chang WH, et al. Among authors: brudno m. Genet Med. 2020 Aug;22(8):1391-1400. doi: 10.1038/s41436-020-0812-7. Epub 2020 May 5. Genet Med. 2020. PMID: 32366968 Free article.

6

Correction: Phenotate: crowdsourcing phenotype annotations as exercises in undergraduate classes.

Chang WH, Mashouri P, Lozano AX, Johnstone B, Husić M, Olry A, Maiella S, Balci TB, Sawyer SL, Robinson PN, Rath A, Brudno M. Chang WH, et al. Among authors: brudno m. Genet Med. 2020 Aug;22(8):1427. doi: 10.1038/s41436-020-0866-6. Genet Med. 2020. PMID: 32555415 Free article.

7

EpigenCentral: Portal for DNA methylation data analysis and classification in rare diseases.

Turinsky AL, Choufani S, Lu K, Liu D, Mashouri P, Min D, Weksberg R, Brudno M. Turinsky AL, et al. Among authors: brudno m. Hum Mutat. 2020 Oct;41(10):1722-1733. doi: 10.1002/humu.24076. Epub 2020 Jul 15. Hum Mutat. 2020. PMID: 32623772

8

MetaFusion: a high-confidence metacaller for filtering and prioritizing RNA-seq gene fusion candidates.

Apostolides M, Jiang Y, Husić M, Siddaway R, Hawkins C, Turinsky AL, Brudno M, Ramani AK. Apostolides M, et al. Among authors: brudno m. Bioinformatics. 2021 Oct 11;37(19):3144-3151. doi: 10.1093/bioinformatics/btab249. Bioinformatics. 2021. PMID: 33944895

9

Child Neurology: RNA Sequencing for the Diagnosis of Lissencephaly.

Qashqari H, Ramani A, Gonorazky H, Amburgey K, Ghahramani Seno MM, Brudno M, Naumenko S, Das S, Dowling JJ. Qashqari H, et al. Among authors: brudno m. Neurology. 2021 Sep 20;97(12):e1253-e1256. doi: 10.1212/WNL.0000000000012265. Neurology. 2021. PMID: 34016710 Free PMC article. No abstract available.

10

PhenoPad: Building AI enabled note-taking interfaces for patient encounters.

Wang J, Yang J, Zhang H, Lu H, Skreta M, Husić M, Arbabi A, Sultanum N, Brudno M. Wang J, et al. Among authors: brudno m. NPJ Digit Med. 2022 Jan 27;5(1):12. doi: 10.1038/s41746-021-00555-9. NPJ Digit Med. 2022. PMID: 35087180 Free PMC article.

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