Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.
Heart (British Cardiac Society)
Debiec, Radoslaw Marek RM; Hamby, Stephen E SE; Jones, Peter D PD; Safwan, Kassem K; Sosin, Michael M; Hetherington, Simon Lee SL; Sprigings, David D; Sharman, David D; Lee, Kelvin K; Salahshouri, Pegah P; Wheeldon, Nigel N; Chukwuemeka, Andrew A; Boutziouka, Vasiliki V; Elamin, Mohamed M; Coolman, Sue S; Asiani, Manish M; Kharodia, Shireen S; Skinner, Gregory J GJ; Samani, Nilesh J NJ; Webb, Tom R TR; Bolger, Aidan P AP
Publication Date: 2022-06-24
Variant appearance in text: NOTCH1: 4898G>A; Arg1633His; rs375018022
Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease.
Molecular Genetics & Genomic Medicine
Musfee, Fadi I FI; Guo, Dongchuan D; Pinard, Amélie C AC; Hostetler, Ellen M EM; Blue, Elizabeth E EE; Nickerson, Deborah A DA; , ; Bamshad, Michael J MJ; Milewicz, Dianna M DM; Prakash, Siddharth K SK
Targeted next generation sequencing can serve as an alternative to conventional tests in myeloid neoplasms.
Plos One
Kim, Borahm B; Lee, Hyeonah H; Jang, Jieun J; Kim, Soo-Jeong SJ; Lee, Seung-Tae ST; Cheong, June-Won JW; Lyu, Chuhl Joo CJ; Min, Yoo Hong YH; Choi, Jong Rak JR
Publication Date: 2019
Variant appearance in text: NOTCH1: 4898G>A; Arg1633His
Precision Medicine in Children and Young Adults with Hematologic Malignancies and Blood Disorders: The Columbia University Experience.
Frontiers In Pediatrics
Marks, Lianna J LJ; Oberg, Jennifer A JA; Pendrick, Danielle D; Sireci, Anthony N AN; Glasser, Chana C; Coval, Carrie C; Zylber, Rebecca J RJ; Chung, Wendy K WK; Pang, Jiuhong J; Turk, Andrew T AT; Hsiao, Susan J SJ; Mansukhani, Mahesh M MM; Glade Bender, Julia L JL; Kung, Andrew L AL; Sulis, Maria Luisa ML
Publication Date: 2017
Variant appearance in text: NOTCH1: 4898G>A; R1633H