NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases.
Human Genetics
Perea-Romero, I I; Blanco-Kelly, F F; Sanchez-Navarro, I I; Lorda-Sanchez, I I; Tahsin-Swafiri, S S; Avila-Fernandez, A A; Martin-Merida, I I; Trujillo-Tiebas, M J MJ; Lopez-Rodriguez, R R; Rodriguez de Alba, M M; Iancu, I F IF; Romero, R R; Quinodoz, M M; Hakonarson, H H; Garcia-Sandova, Blanca B; Minguez, P P; Corton, M M; Rivolta, C C; Ayuso, C C
Publication Date: 2021-12
Variant appearance in text: PEX6: 1314_1321del; Glu439Glyfs*3
The peroxisomal disorder spectrum and Heimler syndrome: Deep phenotyping and review of the literature.
American Journal Of Medical Genetics. Part C, Seminars In Medical Genetics
Daich Varela, Malena M; Jani, Priyam P; Zein, Wadih M WM; D'Souza, Precilla P; Wolfe, Lynne L; Chisholm, Jennifer J; Zalewski, Christopher C; Adams, David D; Warner, Blake M BM; Huryn, Laryssa A LA; Hufnagel, Robert B RB
Publication Date: 2020-09
Variant appearance in text: PEX6: 1314_1321del; Glu439Glyfs*3
Spectrum of PEX1 and PEX6 variants in Heimler syndrome.
European Journal Of Human Genetics : Ejhg
Smith, Claire E L CE; Poulter, James A JA; Levin, Alex V AV; Capasso, Jenina E JE; Price, Susan S; Ben-Yosef, Tamar T; Sharony, Reuven R; Newman, William G WG; Shore, Roger C RC; Brookes, Steven J SJ; Mighell, Alan J AJ; Inglehearn, Chris F CF
Publication Date: 2016-11
Variant appearance in text: PEX6: 1314_1321delGGAGGCCT; E439Gfs*3