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Page 1
Expanding the phenotypic spectrum of NOTCH1 variants: clinical manifestations in families with congenital heart disease.
Stanley KJ, Kalbfleisch KJ, Moran OM, Chaturvedi RR, Roifman M, Chen X, Manshaei R, Martin N, McDermott S, McNiven V, Myles-Reid D, Nield LE, Reuter MS, Schwartz MLB, Shannon P, Silver R, Somerville C, Teitelbaum R, Zahavich L, Bassett AS, Kim RH, Mital S, Chitayat D, Jobling RK. Stanley KJ, et al. Among authors: bassett as. Eur J Hum Genet. 2024 Jul;32(7):795-803. doi: 10.1038/s41431-024-01629-4. Epub 2024 May 22. Eur J Hum Genet. 2024. PMID: 38778082 Free PMC article.
Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.
Mlynarski EE, Xie M, Taylor D, Sheridan MB, Guo T, Racedo SE, McDonald-McGinn DM, Chow EW, Vorstman J, Swillen A, Devriendt K, Breckpot J, Digilio MC, Marino B, Dallapiccola B, Philip N, Simon TJ, Roberts AE, Piotrowicz M, Bearden CE, Eliez S, Gothelf D, Coleman K, Kates WR, Devoto M, Zackai E, Heine-Suñer D, Goldmuntz E, Bassett AS, Morrow BE, Emanuel BS; International Chromosome 22q11.2 Consortium. Mlynarski EE, et al. Among authors: bassett as. Hum Genet. 2016 Mar;135(3):273-85. doi: 10.1007/s00439-015-1623-9. Epub 2016 Jan 7. Hum Genet. 2016. PMID: 26742502 Free PMC article.
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: bassett as. 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.
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: bassett as. Front Genet. 2020 Sep 15;11:957. doi: 10.3389/fgene.2020.00957. eCollection 2020. Front Genet. 2020. PMID: 33110418 Free PMC article.
Clinical Genetic Risk Variants Inform a Functional Protein Interaction Network for Tetralogy of Fallot.
Reuter MS, Chaturvedi RR, Jobling RK, Pellecchia G, Hamdan O, Sung WWL, Nalpathamkalam T, Attaluri P, Silversides CK, Wald RM, Marshall CR, Williams SG, Keavney BD, Thiruvahindrapuram B, Scherer SW, Bassett AS. Reuter MS, et al. Among authors: bassett as. Circ Genom Precis Med. 2021 Aug;14(4):e003410. doi: 10.1161/CIRCGEN.121.003410. Epub 2021 Jul 30. Circ Genom Precis Med. 2021. PMID: 34328347 Free PMC article. Clinical Trial.
Biallelic PAN2 variants in individuals with a syndromic neurodevelopmental disorder and multiple congenital anomalies.
Reuter MS, Zech M, Hempel M, Altmüller J, Heung T, Pölsler L, Santer R, Thiele H, Trost B, Kubisch C, Scherer SW, Rudnik-Schöneborn S, Bassett AS, Lessel D. Reuter MS, et al. Among authors: bassett as. Eur J Hum Genet. 2022 May;30(5):611-618. doi: 10.1038/s41431-022-01077-y. Epub 2022 Mar 18. Eur J Hum Genet. 2022. PMID: 35304602 Free PMC article.
270 results