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

Year Number of Results
2002 2
2003 2
2004 2
2005 2
2006 1
2007 2
2008 3
2009 1
2011 2
2012 2
2013 4
2014 2
2015 3
2016 3
2017 3
2018 6
2019 2
2020 5
2021 5
2022 6
2023 11
2024 3

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69 results

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Page 1
De novo variants in FRYL are associated with developmental delay, intellectual disability, and dysmorphic features.
Pan X, Tao AM, Lu S, Ma M, Hannan SB, Slaugh R, Drewes Williams S, O'Grady L, Kanca O, Person R, Carter MT, Platzer K, Schnabel F, Abou Jamra R, Roberts AE, Newburger JW, Revah-Politi A, Granadillo JL, Stegmann APA, Sinnema M, Accogli A, Salpietro V, Capra V, Ghaloul-Gonzalez L, Brueckner M, Simon MEH, Sweetser DA, Glinton KE, Kirk SE; Baylor College of Medicine Center for Precision Medicine Models; Wangler MF, Yamamoto S, Chung WK, Bellen HJ. Pan X, et al. Among authors: brueckner m. Am J Hum Genet. 2024 Apr 4;111(4):742-760. doi: 10.1016/j.ajhg.2024.02.007. Epub 2024 Mar 12. Am J Hum Genet. 2024. PMID: 38479391
Reply to Pisan et al.: Pathogenicity of inherited TRAF7 mutations in congenital heart disease.
Mishra-Gorur K, Barak T, Kaulen LD, Henegariu O, Jin SC, Aguilera SM, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, Rai DK, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-Encicek AG, Bilguvar K, Lifton RP, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, Gunel M. Mishra-Gorur K, et al. Among authors: brueckner m. Proc Natl Acad Sci U S A. 2024 Mar 19;121(12):e2319578121. doi: 10.1073/pnas.2319578121. Epub 2024 Mar 11. Proc Natl Acad Sci U S A. 2024. PMID: 38466853 Free PMC article. No abstract available.
The H2Bub1-deposition complex is required for human and mouse cardiogenesis.
Barish S, Berg K, Drozd J, Berglund-Brown I, Khizir L, Wasson LK, Seidman CE, Seidman JG, Chen S, Brueckner M. Barish S, et al. Among authors: brueckner m. Development. 2023 Dec 1;150(23):dev201899. doi: 10.1242/dev.201899. Epub 2023 Dec 1. Development. 2023. PMID: 38038666 Free PMC article.
Association of genetic and sulcal traits with executive function in congenital heart disease.
Maleyeff L, Newburger JW, Wypij D, Thomas NH, Anagnoustou E, Brueckner M, Chung WK, Cleveland J, Cunningham S, Gelb BD, Goldmuntz E, Hagler DJ Jr, Huang H, King E, McQuillen P, Miller TA, Norris-Brilliant A, Porter GA Jr, Roberts AE, Grant PE, Im K, Morton SU. Maleyeff L, et al. Among authors: brueckner m. Ann Clin Transl Neurol. 2024 Feb;11(2):278-290. doi: 10.1002/acn3.51950. Epub 2023 Nov 27. Ann Clin Transl Neurol. 2024. PMID: 38009418 Free PMC article.
Single-cell reconstruction and mutation enrichment analysis identifies dysregulated cardiomyocyte and endothelial cells in congenital heart disease.
Tambi R, Zehra B, Nandkishore S, Sharafat S, Kader F, Nassir N, Mohamed N, Ahmed A, Abdel Hameid R, Alasrawi S, Brueckner M, Kuebler WM, Chung WK, Alsheikh-Ali A, Di Donato RM, Uddin M, Berdiev BK. Tambi R, et al. Among authors: brueckner m. Physiol Genomics. 2023 Dec 1;55(12):634-646. doi: 10.1152/physiolgenomics.00070.2023. Epub 2023 Oct 9. Physiol Genomics. 2023. PMID: 37811720 Free article.
Contribution of Previously Unrecognized RNA Splice-Altering Variants to Congenital Heart Disease.
Jang MY, Patel PN, Pereira AC, Willcox JAL, Haghighi A, Tai AC, Ito K, Morton SU, Gorham JM, McKean DM, DePalma SR, Bernstein D, Brueckner M, Chung WK, Giardini A, Goldmuntz E, Kaltman JR, Kim R, Newburger JW, Shen Y, Srivastava D, Tristani-Firouzi M, Gelb BD, Porter GA Jr, Seidman CE, Seidman JG. Jang MY, et al. Among authors: brueckner m. Circ Genom Precis Med. 2023 Jun;16(3):224-231. doi: 10.1161/CIRCGEN.122.003924. Epub 2023 May 11. Circ Genom Precis Med. 2023. PMID: 37165897 Free PMC article.
Pleiotropic role of TRAF7 in skull-base meningiomas and congenital heart disease.
Mishra-Gorur K, Barak T, Kaulen LD, Henegariu O, Jin SC, Aguilera SM, Yalbir E, Goles G, Nishimura S, Miyagishima D, Djenoune L, Altinok S, Rai DK, Viviano S, Prendergast A, Zerillo C, Ozcan K, Baran B, Sencar L, Goc N, Yarman Y, Ercan-Sencicek AG, Bilguvar K, Lifton RP, Moliterno J, Louvi A, Yuan S, Deniz E, Brueckner M, Gunel M. Mishra-Gorur K, et al. Among authors: brueckner m. Proc Natl Acad Sci U S A. 2023 Apr 18;120(16):e2214997120. doi: 10.1073/pnas.2214997120. Epub 2023 Apr 12. Proc Natl Acad Sci U S A. 2023. PMID: 37043537 Free PMC article.
Association of Predicted Damaging De Novo Variants on Ventricular Function in Individuals With Congenital Heart Disease.
Lewis MJ, Hsieh A, Qiao L, Tan R, Kazzi B, Channing A, Griffin EL, Jobanputra V, Su J, Shahryar C, Kochilas L, Gaynor JW, Lee T, Goldmuntz E, Russell M, Mital S, Tristani M, Brueckner M, Newburger J, Shen Y, Chung WK. Lewis MJ, et al. Among authors: brueckner m. Circ Genom Precis Med. 2023 Apr;16(2):e003900. doi: 10.1161/CIRCGEN.122.003900. Epub 2023 Mar 3. Circ Genom Precis Med. 2023. PMID: 36866680 Free PMC article. No abstract available.
69 results