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Year Number of Results
2017 6
2018 20
2019 18
2020 8
2021 9
2022 8
2023 10
2024 2

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73 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. 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
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. 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.
Genetic and clinical variables act synergistically to impact neurodevelopmental outcomes in children with single ventricle heart disease.
Miller TA, Hernandez EJ, Gaynor JW, Russell MW, Newburger JW, Chung W, Goldmuntz E, Cnota JF, Zyblewski SC, Mahle WT, Zak V, Ravishankar C, Kaltman JR, McCrindle BW, Clarke S, Votava-Smith JK, Graham EM, Seed M, Rudd N, Bernstein D, Lee TM, Yandell M, Tristani-Firouzi M. Miller TA, et al. Commun Med (Lond). 2023 Sep 27;3(1):127. doi: 10.1038/s43856-023-00361-2. Commun Med (Lond). 2023. PMID: 37758840 Free PMC article.
Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays.
Ganapathi M, Matsuoka LS, March M, Li D, Brokamp E, Benito-Sanz S, White SM, Lachlan K, Ahimaz P, Sewda A, Bastarache L, Thomas-Wilson A, Stoler JM, Bramswig NC, Baptista J, Stals K, Demurger F, Cogne B, Isidor B, Bedeschi MF, Peron A, Amiel J, Zackai E, Schacht JP, Iglesias AD, Morton J, Schmetz A; Undiagnosed Diseases Network; Seidel V, Lucia S, Baskin SM, Thiffault I, Cogan JD, Gordon CT, Chung WK, Bowdin S, Bhoj E. Ganapathi M, et al. Eur J Hum Genet. 2023 Oct;31(10):1117-1124. doi: 10.1038/s41431-023-01434-5. Epub 2023 Jul 27. Eur J Hum Genet. 2023. PMID: 37500725
Oligogenic Architecture of Rare Noncoding Variants Distinguishes 4 Congenital Heart Disease Phenotypes.
Yu M, Aguirre M, Jia M, Gjoni K, Cordova-Palomera A, Munger C, Amgalan D, Rosa Ma X, Pereira A, Tcheandjieu C, Seidman C, Seidman J, Tristani-Firouzi M, Chung W, Goldmuntz E, Srivastava D, Loos RJF, Chami N, Cordell H, Dreßen M, Mueller-Myhsok B, Lahm H, Krane M, Pollard KS, Engreitz JM, Gagliano Taliun SA, Gelb BD, Priest JR. Yu M, et al. Circ Genom Precis Med. 2023 Jun;16(3):258-266. doi: 10.1161/CIRCGEN.122.003968. Epub 2023 Apr 7. Circ Genom Precis Med. 2023. PMID: 37026454
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study.
Griffin EL, Nees SN, Morton SU, Wynn J, Patel N, Jobanputra V, Robinson S, Kochav SM, Tao A, Andrews C, Cross N, Geva J, Lanzilotta K, Ritter A, Taillie E, Thompson A, Meyer C, Akers R, King EC, Cnota JF, Kim RW, Porter GA Jr, Brueckner M, Seidman CE, Shen Y, Gelb BD, Goldmuntz E, Newburger JW, Roberts AE, Chung WK. Griffin EL, et al. Circ Genom Precis Med. 2023 Apr;16(2):e003791. doi: 10.1161/CIRCGEN.122.003791. Epub 2023 Feb 21. Circ Genom Precis Med. 2023. PMID: 36803080 Free PMC article.
Association of Potentially Damaging De Novo Gene Variants With Neurologic Outcomes in Congenital Heart Disease.
Morton SU, Norris-Brilliant A, Cunningham S, King E, Goldmuntz E, Brueckner M, Miller TA, Thomas NH, Liu C, Adams HR, Bellinger DC, Cleveland J, Cnota JF, Dale AM, Frommelt M, Gelb BD, Grant PE, Goldberg CS, Huang H, Kuperman JM, Li JS, McQuillen PS, Panigrahy A, Porter GA Jr, Roberts AE, Russell MW, Seidman CE, Tivarus ME, Anagnoustou E, Hagler DJ Jr, Chung WK, Newburger JW. Morton SU, et al. JAMA Netw Open. 2023 Jan 3;6(1):e2253191. doi: 10.1001/jamanetworkopen.2022.53191. JAMA Netw Open. 2023. PMID: 36701153 Free PMC article.
73 results