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Human Mutation|February 19, 2013
Autosomal recessive spinocerebellar ataxia 7 (SCAR7) is caused by variants in TPP1, the gene involved in classic late-infantile neuronal ceroid lipofuscinosis 2 disease (CLN2 disease)Yu Sun, Rowida Almomani, Guido J Breedveld, et al.
Human Mutation|July 22, 2014
Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteinsMarisa I S Mendes, Ana Sofia Santos, Desirée E C Smith, et al.
Human Mutation|July 22, 2014
Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous familiesPeriklis Makrythanasis, Mari Nelis, Federico A Santoni, et al.
Human Mutation|July 22, 2014
Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndromeMonika Ołdak, Aneta Ścieżyńska, Wojciech Młynarski, et al.
Human Mutation|May 8, 2013
Analysis of LMNB1 duplications in autosomal dominant leukodystrophy provides insights into duplication mechanisms and allele-specific expressionElisa Giorgio, Harshvardhan Rolyan, Laura Kropp, et al.
Human Mutation|July 31, 2014
A functional SNP catalog of overlapping miRNA-binding sites in genes implicated in prion disease and other neurodegenerative disordersReuben Saba, Sarah J Medina, Stephanie A Booth
Human Mutation|March 23, 2013
Genotyping by induced Förster Resonance Energy Transfer(iFRET) mechanism and simultaneous mutation scanningBartłomiej Masojć, Bohdan Górski, Thierry van de Wetering, et al.
Human Mutation|December 5, 2013
The ZZ domain of dystrophin in DMD: making sense of missense mutationsAdeline Vulin, Nicolas Wein, Dana M Strandjord, et al.
Human Mutation|January 4, 2012
UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin geneGaelle Blandin, Christophe Beroud, Veronique Labelle, et al.
Human Mutation|January 4, 2012
Presence of ATM protein and residual kinase activity correlates with the phenotype in ataxia-telangiectasia: a genotype-phenotype studyMijke M M Verhagen, James I Last, Frans B L Hogervorst, et al.
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