Biallelic loss-of-function in NRAP is a cause of recessive dilated cardiomyopathy.
Plos One
Koskenvuo, Juha W JW; Saarinen, Inka I; Ahonen, Saija S; Tommiska, Johanna J; Weckström, Sini S; Seppälä, Eija H EH; Tuupanen, Sari S; Kangas-Kontio, Tiia T; Schleit, Jennifer J; Heliö, Krista K; Hathaway, Julie J; Gummesson, Anders A; Dahlberg, Pia P; Ojala, Tiina H TH; Vepsäläinen, Ville V; Kytölä, Ville V; Muona, Mikko M; Sistonen, Johanna J; Salmenperä, Pertteli P; Gentile, Massimiliano M; Paananen, Jussi J; Myllykangas, Samuel S; Alastalo, Tero-Pekka TP; Heliö, Tiina T
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Richards, Sue S; Aziz, Nazneen N; Bale, Sherri S; Bick, David D; Das, Soma S; Gastier-Foster, Julie J; Grody, Wayne W WW; Hegde, Madhuri M; Lyon, Elaine E; Spector, Elaine E; Voelkerding, Karl K; Rehm, Heidi L HL; ,
Convergent patterns of association between phenylalanine hydroxylase variants and schizophrenia in four independent samples.
American Journal Of Medical Genetics. Part B, Neuropsychiatric Genetics : The Official Publication Of The International Society Of Psychiatric Genetics
Talkowski, Michael E ME; McClain, Lora L; Allen, Trina T; Bradford, L Dianne LD; Calkins, Monica M; Edwards, Neil N; Georgieva, Lyudmila L; Go, Rodney R; Gur, Ruben R; Gur, Raquel R; Kirov, George G; Chowdari, Kodavali K; Kwentus, Joseph J; Lyons, Paul P; Mansour, Hader H; McEvoy, Joseph J; O'Donovan, Michael C MC; O'Jile, Judith J; Owen, Michael J MJ; Santos, Alberto A; Savage, Robert R; Toncheva, Draga D; Vockley, Gerard G; Wood, Joel J; Devlin, Bernie B; Nimgaonkar, Vishwajit L VL