Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.
Human Genetics
Tollefson, Mallory R MR; Gogal, Rose A RA; Weaver, A Monique AM; Schaefer, Amanda M AM; Marini, Robert J RJ; Azaiez, Hela H; Kolbe, Diana L DL; Wang, Donghong D; Weaver, Amy E AE; Casavant, Thomas L TL; Braun, Terry A TA; Smith, Richard J H RJH; Schnieders, Michael J MJ
Publication Date: 2023-04-22
Variant appearance in text: KMT2D: 7036G>A; Gly2346Ser
Network expansion of genetic associations defines a pleiotropy map of human cell biology.
Nature Genetics
Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P
Publication Date: 2023-02-23
Variant appearance in text: KMT2D: 7036G>A; Gly2346Ser
Single-Nucleotide Variations, Insertions/Deletions and Copy Number Variations in Myelodysplastic Syndrome during Disease Progression Revealed by a Single-Cell DNA Sequencing Platform.
Single suture craniosynostosis: Identification of rare variants in genes associated with syndromic forms.
American Journal Of Medical Genetics. Part A
Clarke, Christine M CM; Fok, Vincent T VT; Gustafson, Jennifer A JA; Smyth, Matthew D MD; Timms, Andrew E AE; Frazar, Chris D CD; Smith, Joshua D JD; Birgfeld, Craig B CB; Lee, Amy A; Ellenbogen, Richard G RG; Gruss, Joseph S JS; Hopper, Richard A RA; Cunningham, Michael L ML
Publication Date: 2018-02
Variant appearance in text: KMT2D: 7036G>A; Gly2346Ser