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

Text availability

Article attribute

Article type

Publication date

Search Results

237 results

Filters applied: . Clear all
Results are displayed in a computed author sort order. The Results By Year timeline is not available.
Page 1
Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy.
Lesurf R, Said A, Akinrinade O, Breckpot J, Delfosse K, Liu T, Yao R, Persad G, McKenna F, Noche RR, Oliveros W, Mattioli K, Shah S, Miron A, Yang Q, Meng G, Yue MCS, Sung WWL, Thiruvahindrapuram B, Lougheed J, Oechslin E, Mondal T, Bergin L, Smythe J, Jayappa S, Rao VJ, Shenthar J, Dhandapany PS, Semsarian C, Weintraub RG, Bagnall RD, Ingles J; Genomics England Research Consortium; Melé M, Maass PG, Ellis J, Scherer SW, Mital S. Lesurf R, et al. Among authors: oechslin e. NPJ Genom Med. 2022 Mar 14;7(1):18. doi: 10.1038/s41525-022-00288-y. NPJ Genom Med. 2022. PMID: 35288587 Free PMC article.
Factors influencing participation in a population-based biorepository for childhood heart disease.
Papaz T, Safi M, Manickaraj AK, Ogaki C, Breaton Kyryliuk J, Burrill L, Dodge C, Chant-Gambacort C, Walter LL, Rosenberg H, Mondal T, Smythe J, Lougheed J, Bergin L, Gordon E, Chitayat D, Oechslin E, Mital S. Papaz T, et al. Among authors: oechslin e. Pediatrics. 2012 Nov;130(5):e1198-205. doi: 10.1542/peds.2012-0687. Epub 2012 Oct 8. Pediatrics. 2012. PMID: 23045559
Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot.
Reuter MS, Jobling R, Chaturvedi RR, Manshaei R, Costain G, Heung T, Curtis M, Hosseini SM, Liston E, Lowther C, Oechslin E, Sticht H, Thiruvahindrapuram B, Mil SV, Wald RM, Walker S, Marshall CR, Silversides CK, Scherer SW, Kim RH, Bassett AS. Reuter MS, et al. Among authors: oechslin e. Genet Med. 2019 Apr;21(4):1001-1007. doi: 10.1038/s41436-018-0260-9. Epub 2018 Sep 20. Genet Med. 2019. PMID: 30232381 Free PMC article.
Return of genetic and genomic research findings: experience of a pediatric biorepository.
Papaz T, Liston E, Zahavich L, Stavropoulos DJ, Jobling RK, Kim RH, Reuter M, Miron A, Oechslin E, Mondal T, Bergin L, Smythe JF, Altamirano-Diaz L, Lougheed J, Yao R, Akinrinade O, Breckpot J, Mital S. Papaz T, et al. Among authors: oechslin e. BMC Med Genomics. 2019 Nov 27;12(1):173. doi: 10.1186/s12920-019-0618-0. BMC Med Genomics. 2019. PMID: 31775751 Free PMC article.
Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.
Manshaei R, Merico D, Reuter MS, Engchuan W, Mojarad BA, Chaturvedi R, Heung T, Pellecchia G, Zarrei M, Nalpathamkalam T, Khan R, Okello JBA, Liston E, Curtis M, Yuen RKC, Marshall CR, Jobling RK, Oechslin E, Wald RM, Silversides CK, Scherer SW, Kim RH, Bassett AS. Manshaei R, et al. Among authors: oechslin e. Front Genet. 2020 Sep 15;11:957. doi: 10.3389/fgene.2020.00957. eCollection 2020. Front Genet. 2020. PMID: 33110418 Free PMC article.
Common Genetic Variants Contribute to Risk of Transposition of the Great Arteries.
Škorić-Milosavljević D, Tadros R, Bosada FM, Tessadori F, van Weerd JH, Woudstra OI, Tjong FVY, Lahrouchi N, Bajolle F, Cordell HJ, Agopian AJ, Blue GM, Barge-Schaapveld DQCM, Gewillig M, Preuss C, Lodder EM, Barnett P, Ilgun A, Beekman L, van Duijvenboden K, Bokenkamp R, Müller-Nurasyid M; KORA-Study Group; Vliegen HW, Konings TC, van Melle JP, van Dijk APJ, van Kimmenade RRJ, Roos-Hesselink JW, Sieswerda GT, Meijboom F, Abdul-Khaliq H, Berger F, Dittrich S, Hitz MP, Moosmann J, Riede FT, Schubert S, Galan P, Lathrop M, Munter HM, Al-Chalabi A, Shaw CE, Shaw PJ, Morrison KE, Veldink JH, van den Berg LH, Evans S, Nobrega MA, Aneas I, Radivojkov-Blagojević M, Meitinger T, Oechslin E, Mondal T, Bergin L, Smythe JF, Altamirano-Diaz L, Lougheed J, Bouma BJ, Chaix MA, Kline J, Bassett AS, Andelfinger G, van der Palen RLF, Bouvagnet P, Clur SB, Breckpot J, Kerstjens-Frederikse WS, Winlaw DS, Bauer UMM, Mital S, Goldmuntz E, Keavney B, Bonnet D, Mulder BJ, Tanck MWT, Bakkers J, Christoffels VM, Boogerd CJ, Postma AV, Bezzina CR. Škorić-Milosavljević D, et al. Among authors: oechslin e. Circ Res. 2022 Jan 21;130(2):166-180. doi: 10.1161/CIRCRESAHA.120.317107. Epub 2021 Dec 10. Circ Res. 2022. PMID: 34886679 Free PMC article.
Reduced Systolic Function and Not Genetic Variants Determine Outcome in Pediatric and Adult Left Ventricular Noncompaction Cardiomyopathy.
Schultze-Berndt A, Kühnisch J, Herbst C, Seidel F, Al-Wakeel-Marquard N, Dartsch J, Theisen S, Knirsch W, Jenni R, Greutmann M, Oechslin E, Berger F, Klaassen S. Schultze-Berndt A, et al. Among authors: oechslin e. Front Pediatr. 2021 Sep 3;9:722926. doi: 10.3389/fped.2021.722926. eCollection 2021. Front Pediatr. 2021. PMID: 34540771 Free PMC article.
Transition Intervention for Adolescents With Congenital Heart Disease.
Mackie AS, Rempel GR, Kovacs AH, Kaufman M, Rankin KN, Jelen A, Yaskina M, Sananes R, Oechslin E, Dragieva D, Mustafa S, Williams E, Schuh M, Manlhiot C, Anthony SJ, Magill-Evans J, Nicholas D, McCrindle BW. Mackie AS, et al. Among authors: oechslin e. J Am Coll Cardiol. 2018 Apr 24;71(16):1768-1777. doi: 10.1016/j.jacc.2018.02.043. J Am Coll Cardiol. 2018. PMID: 29673467 Free article. Clinical Trial.
237 results