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Human Mutation|August 23, 2020
Renal dysfunction, rod-cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2BLisa Roberts, Stephanie Julius, Shrinav Dawlat, et al.Human Mutation|August 14, 2020
Expansion of germline RPS20 mutation phenotype to include Diamond-Blackfan anemiaSaleh Bhar, Fujun Zhou, Lucas C Reineke, et al.Human Mutation|July 4, 2012
Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegiasConceição Bettencourt, Beatriz Quintáns, Raquel Ros, et al.Human Mutation|July 11, 2012
Systematic curation and analysis of genomic variations and their potential functional consequences in snoRNA lociDeeksha Bhartiya, Jatin Talwar, Yasha Hasija, et al.Human Mutation|June 28, 2012
Comprehensive functional assessment of MLH1 variants of unknown significanceEster Borràs, Marta Pineda, Angela Brieger, et al.Human Mutation|June 28, 2012
Microattribution and nanopublication as means to incentivize the placement of human genome variation data into the public domainGeorge P Patrinos, David N Cooper, Erik van Mulligen, et al.Human Mutation|July 4, 2012
Associations among genotype, clinical phenotype, and intracellular localization of trafficking proteins in ARC syndromeHolly Smith, Romain Galmes, Ekaterina Gogolina, et al.Human Mutation|March 11, 2015
Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing lossBryn D Webb, Patricia G Wheeler, Jacob J Hagen, et al.Human Mutation|July 28, 2012
Multiple functional effects of RET kinase domain sequence variants in Hirschsprung diseaseBrandy D Hyndman, Taranjit S Gujral, Jonathan R Krieger, et al.Human Mutation|July 28, 2012
Identification of recurrent type-2 NF1 microdeletions reveals a mitotic nonallelic homologous recombination hotspot underlying a human genomic disorderJulia Vogt, Tanja Mussotter, Kathrin Bengesser, et al.Pageof 583