Brown CM - Search Results

1

The smallest likely pathogenic duplication of a SOX9 enhancer identified to date in a family with 46,XX testicular differences of sex development.

Sajan SA, Brown CM, Davis-Keppen L, Burns K, Royer E, Coleman JAC, Hilton BA, DuPont BR, Perry DL, Taft RJ, Kesari A. Sajan SA, et al. Among authors: brown cm. Am J Med Genet A. 2023 Dec;191(12):2831-2836. doi: 10.1002/ajmg.a.63367. Epub 2023 Aug 8. Am J Med Genet A. 2023. PMID: 37551848

2

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.

Gross AM, Ajay SS, Rajan V, Brown C, Bluske K, Burns NJ, Chawla A, Coffey AJ, Malhotra A, Scocchia A, Thorpe E, Dzidic N, Hovanes K, Sahoo T, Dolzhenko E, Lajoie B, Khouzam A, Chowdhury S, Belmont J, Roller E, Ivakhno S, Tanner S, McEachern J, Hambuch T, Eberle M, Hagelstrom RT, Bentley DR, Perry DL, Taft RJ. Gross AM, et al. Genet Med. 2019 May;21(5):1121-1130. doi: 10.1038/s41436-018-0295-y. Epub 2018 Oct 8. Genet Med. 2019. PMID: 30293986 Free PMC article.

3

Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.

Scocchia A, Wigby KM, Masser-Frye D, Del Campo M, Galarreta CI, Thorpe E, McEachern J, Robinson K, Gross A; ICSL Interpretation and Reporting Team; Ajay SS, Rajan V, Perry DL, Belmont JW, Bentley DR, Jones MC, Taft RJ. Scocchia A, et al. NPJ Genom Med. 2019 Feb 14;4:5. doi: 10.1038/s41525-018-0076-1. eCollection 2019. NPJ Genom Med. 2019. PMID: 30792901 Free PMC article.

4

A clinical laboratory's experience using GeneMatcher-Building stronger gene-disease relationships.

Taylor JP, Malhotra A, Burns NJ, Clause AR, Brown CM, Burns BT, Chandrasekhar A, Schlachetzki Z, Bennett M, Thorpe E, Taft RJ, Perry DL, Coffey AJ. Taylor JP, et al. Among authors: brown cm. Hum Mutat. 2022 Jun;43(6):765-771. doi: 10.1002/humu.24356. Epub 2022 Mar 1. Hum Mutat. 2022. PMID: 35181961

5

PERCHING syndrome: Clinical presentation in the first African patient confirmed by clinical whole genome sequencing.

Makay P, Mubungu G, Mupuala A, Bluske K, Brown C, Schmidt SA, Ngole M, Fuanani P, Perry DL, Lukusa P, Devriendt K, Taft RJ, Lumaka A. Makay P, et al. Am J Med Genet A. 2022 Sep;188(9):2825-2831. doi: 10.1002/ajmg.a.62855. Epub 2022 Jun 7. Am J Med Genet A. 2022. PMID: 35670385 Free article.

6

Reactive gene curation to support interpretation and reporting of a clinical genome test for rare disease: Experience from over 1,000 cases.

Clause AR, Taylor JP, Rajkumar R, Bluske K, Bennett M, Amendola LM; ICSL Interpretation and Reporting Team; Bentley DR, Taft RJ, Perry DL, Coffey AJ. Clause AR, et al. Cell Genom. 2023 Jan 31;3(2):100258. doi: 10.1016/j.xgen.2023.100258. eCollection 2023 Feb 8. Cell Genom. 2023. PMID: 36819666 Free PMC article.

7

A framework for the evaluation and reporting of incidental findings in clinical genomic testing.

Brown CM, Amendola LM, Chandrasekhar A, Hagelstrom RT, Halter G, Kesari A, Thorpe E, Perry DL, Taft RJ, Coffey AJ. Brown CM, et al. Eur J Hum Genet. 2024 Jun;32(6):665-672. doi: 10.1038/s41431-024-01575-1. Epub 2024 Apr 2. Eur J Hum Genet. 2024. PMID: 38565640

8

Clinical genome sequencing in patients with suspected rare genetic disease in Peru.

Bazalar-Montoya J, Cornejo-Olivas M, Duenas-Roque MM, Purizaca-Rosillo N, Rodriguez RS, Milla-Neyra K, De La Torre-Hernandez CA, Sarapura-Castro E, Galarreta Aima CI, Manassero-Morales G, Chávez-Pasco G, Celis-García L, La Serna-Infantes JE; Illumina Laboratory Services Bioinformatics, Software, Interpretation and Customer Support; Chekalin E, Thorpe E, Taft RJ. Bazalar-Montoya J, et al. NPJ Genom Med. 2024 Oct 28;9(1):51. doi: 10.1038/s41525-024-00434-8. NPJ Genom Med. 2024. PMID: 39468051 Free PMC article.

9

Activation of PDGFR and EGFR promotes the acquisition of a stem cell-like phenotype in schwannomas.

Yi D, Kuo SZ, Zheng H, Abhold EL, Brown CM, Doherty JK, Wang-Rodriguez J, Harris JP, Ongkeko WM. Yi D, et al. Among authors: brown cm. Otol Neurotol. 2012 Dec;33(9):1640-7. doi: 10.1097/MAO.0b013e31826a540d. Otol Neurotol. 2012. PMID: 22935817

10

X-linked neonatal-onset epileptic encephalopathy associated with a gain-of-function variant p.R660T in GRIA3.

Sun JH, Chen J, Ayala Valenzuela FE, Brown C, Masser-Frye D, Jones M, Romero LP, Rinaldi B, Li WL, Li QQ, Wu D, Gerard B, Thorpe E, Bayat A, Shi YS. Sun JH, et al. PLoS Genet. 2021 Jun 23;17(6):e1009608. doi: 10.1371/journal.pgen.1009608. eCollection 2021 Jun. PLoS Genet. 2021. PMID: 34161333 Free PMC article.

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