Rare variants and HLA haplotypes associated in patients with neuromyelitis optica spectrum disorders.
Frontiers In Immunology
Tabansky, Inna I; Tanaka, Akemi J AJ; Wang, Jiayao J; Zhang, Guanglan G; Dujmovic, Irena I; Mader, Simone S; Jeganathan, Venkatesh V; DeAngelis, Tracey T; Funaro, Michael M; Harel, Asaff A; Messina, Mark M; Shabbir, Maya M; Nursey, Vishaan V; DeGouvia, William W; Laurent, Micheline M; Blitz, Karen K; Jindra, Peter P; Gudesblatt, Mark M; , ; King, Alejandra A; Drulovic, Jelena J; Yunis, Edmond E; Brusic, Vladimir V; Shen, Yufeng Y; Keskin, Derin B DB; Najjar, Souhel S; Stern, Joel N H JNH
Next-generation DNA sequencing identifies novel gene variants and pathways involved in specific language impairment.
Scientific Reports
Chen, Xiaowei Sylvia XS; Reader, Rose H RH; Hoischen, Alexander A; Veltman, Joris A JA; Simpson, Nuala H NH; Francks, Clyde C; Newbury, Dianne F DF; Fisher, Simon E SE
Publication Date: 2017-04-25
Variant appearance in text: LRP1: A775P; rs34714459
Influence of Coding Variability in APP-Aβ Metabolism Genes in Sporadic Alzheimer's Disease.
Plos One
Sassi, Celeste C; Ridge, Perry G PG; Nalls, Michael A MA; Gibbs, Raphael R; Ding, Jinhui J; Lupton, Michelle K MK; Troakes, Claire C; Lunnon, Katie K; Al-Sarraj, Safa S; Brown, Kristelle S KS; Medway, Christopher C; Lord, Jenny J; Turton, James J; , ; Morgan, Kevin K; Powell, John F JF; Kauwe, John S JS; Cruchaga, Carlos C; Bras, Jose J; Goate, Alison M AM; Singleton, Andrew B AB; Guerreiro, Rita R; Hardy, John J
Publication Date: 2016
Variant appearance in text: LRP1: A775P; rs34714459
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Nature Genetics
Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S
Publication Date: 2013-11
Variant appearance in text: LRP1: A775P; rs34714459