Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2016 1
2017 2
2019 1
2022 1
2023 4
2024 2

Text availability

Article attribute

Article type

Publication date

Search Results

10 results

Results by year

Filters applied: . Clear all
Page 1
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
Comparative Analysis of Ralstonia solanacearum Methylomes.
Erill I, Puigvert M, Legrand L, Guarischi-Sousa R, Vandecasteele C, Setubal JC, Genin S, Guidot A, Valls M. Erill I, et al. Among authors: guarischi sousa r. Front Plant Sci. 2017 Apr 13;8:504. doi: 10.3389/fpls.2017.00504. eCollection 2017. Front Plant Sci. 2017. PMID: 28450872 Free PMC article.
Chromosomal microarray analyses from 5778 patients with neurodevelopmental disorders and congenital anomalies in Brazil.
Krepischi ACV, Villela D, da Costa SS, Mazzonetto PC, Schauren J, Migliavacca MP, Milanezi F, Santos JG, Guida G, Guarischi-Sousa R, Campana G, Kok F, Schlesinger D, Kitajima JP, Campagnari F, Bertola DR, Vianna-Morgante AM, Pearson PL, Rosenberg C. Krepischi ACV, et al. Among authors: guarischi sousa r. Sci Rep. 2022 Sep 7;12(1):15184. doi: 10.1038/s41598-022-19274-6. Sci Rep. 2022. PMID: 36071085 Free PMC article.
Contemporary Polygenic Scores of Low-Density Lipoprotein Cholesterol and Coronary Artery Disease Predict Coronary Atherosclerosis in Adolescents and Young Adults.
Guarischi-Sousa R, Salfati E, Kho PF, Iyer KR, Hilliard AT, Herrington DM, Tsao PS, Clarke SL, Assimes TL. Guarischi-Sousa R, et al. Circ Genom Precis Med. 2023 Oct;16(5):480-482. doi: 10.1161/CIRCGEN.122.004047. Epub 2023 Jul 6. Circ Genom Precis Med. 2023. PMID: 37409455 Free PMC article. No abstract available.
A Benchmark of In-House Homologous Recombination Repair Deficiency Testing Solutions for High-Grade Serous Ovarian Cancer Diagnosis.
Guarischi-Sousa R, Kroll JE, Bonaldi A, Pierry PM, Villela D, Souza CA, Silva JS, Bürger MC, Oliveira FA, de Paula MG, Meliso FM, de Almeida LG, Monfredini PM, de Oliveira AG, Milanezi F, Scapulatempo-Neto C, Yamamoto GL. Guarischi-Sousa R, et al. Diagnostics (Basel). 2023 Oct 24;13(21):3293. doi: 10.3390/diagnostics13213293. Diagnostics (Basel). 2023. PMID: 37958189 Free PMC article.
Low-pass whole genome sequencing is a reliable and cost-effective approach for copy number variant analysis in the clinical setting.
Mazzonetto PC, Villela D, da Costa SS, Krepischi ACV, Milanezi F, Migliavacca MP, Pierry PM, Bonaldi A, Almeida LGD, De Souza CA, Kroll JE, Paula MG, Guarischi-Sousa R, Scapulatempo-Neto C, Rosenberg C. Mazzonetto PC, et al. Among authors: guarischi sousa r. Ann Hum Genet. 2024 Mar;88(2):113-125. doi: 10.1111/ahg.12532. Epub 2023 Oct 9. Ann Hum Genet. 2024. PMID: 37807935
Whole genome sequencing as a first-tier diagnostic test for infants in neonatal intensive care units: A pilot study in Brazil.
Migliavacca MP, Sobreira J, Bermeo D, Gomes M, Alencar D, Sussuchi L, Souza CA, Silva JS, Kroll JE, Burger M, Guarischi-Sousa R, Villela D, Yamamoto GL, Milanezi F, Horigoshi N, Cesar RG, de Carvalho WB, Honjo RS, Bertola DR, Kim CA, de Souza L, Procianoy RS, Silveria RC, Rosenberg C, Giugliani R, Campana GA, Scapulatempo-Neto C, Sobreira N. Migliavacca MP, et al. Among authors: guarischi sousa r. Am J Med Genet A. 2024 Jun;194(6):e63544. doi: 10.1002/ajmg.a.63544. Epub 2024 Jan 23. Am J Med Genet A. 2024. PMID: 38258498