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Human Mutation|March 12, 2014
Targeted and genomewide NGS data disqualify mutations in MYO1A, the "DFNA48 gene", as a cause of deafnessTobias Eisenberger, Nataliya Di Donato, Shahid M Baig, et al.Human Mutation|March 7, 2014
The UMD-APC database, a model of nation-wide knowledge base: update with data from 3,581 variationsPhilippe Grandval, Martine Blayau, Marie-Pierre Buisine, et al.Human Mutation|March 4, 2008
Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malinShweta Singh, Parthasarathy Satishchandra, Susarla Krishna Shankar, et al.Human Mutation|March 6, 2008
Integration of hepatitis B virus DNA into the myeloid/lymphoid or mixed-lineage leukemia (MLL4) gene and rearrangements of MLL4 in human hepatocellular carcinomaKenichi Saigo, Kenichi Yoshida, Ryuji Ikeda, et al.Human Mutation|January 29, 2008
Branchio-oto-renal syndrome (BOR): novel mutations in the EYA1 gene, and a review of the mutational genetics of BORDana J Orten, Stephanie M Fischer, Jessica L Sorensen, et al.Human Mutation|March 25, 2008
Novel and established CYP2A6 alleles impair in vivo nicotine metabolism in a population of Black African descentJill C Mwenifumbo, Nael Al Koudsi, Man Ki Ho, et al.Human Mutation|March 26, 2008
The human retinitis pigmentosa GTPase regulator gene variant databaseXinhua Shu, Ewan McDowall, Alastair F Brown, et al.Human Mutation|February 29, 2008
N-terminal CFTR missense variants severely affect the behavior of the CFTR chloride channelG G Gené, A Llobet, S Larriba, et al.Human Mutation|February 7, 2008
Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with coresNicole Monnier, Isabelle Marty, Julien Faure, et al.Human Mutation|February 4, 2014
Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndromeRoberta Piras, Francesca Chiappe, Ilaria La Torraca, et al.Pageof 582