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Human Mutation|July 11, 2007
Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridizationYao-Shan Fan, Parul Jayakar, Hongbo Zhu, et al.
Human Mutation|July 12, 2007
Genetic variant in the HSPB1 promoter region impairs the HSP27 stress responseInes Dierick, Joy Irobi, Sophie Janssens, et al.
Human Mutation|July 31, 2007
Visualization of uniparental inheritance, Mendelian inconsistencies, deletions, and parent of origin effects in single nucleotide polymorphism trio data with SNPtrioJason C Ting, Elisha D O Roberson, Nathaniel D Miller, et al.
Human Mutation|July 28, 2007
The importance of mutation detection in Marfan syndrome and Marfan-related disorders: report of 193 FBN1 mutationsPaolo Comeglio, Philip Johnson, Gavin Arno, et al.
Human Mutation|May 12, 2007
Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic DatabaseJoël Zlotogora, Sjozef van Baal, George P Patrinos
Human Mutation|June 5, 2007
Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genesGuy Froyen, Hilde Van Esch, Marijke Bauters, et al.
Human Mutation|June 5, 2007
Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearingNevra Nal, Zubair M Ahmed, Engin Erkal, et al.
Human Mutation|April 28, 2007
Type 1 Gaucher disease: null and hypomorphic novel chitotriosidase mutations-implications for diagnosis and therapeutic monitoringMarie E Grace, Manisha Balwani, Irina Nazarenko, et al.
Human Mutation|April 14, 2007
Clinical and mutational profile in spinal muscular atrophy with respiratory distress (SMARD): defining novel phenotypes through hierarchical cluster analysisUlf-Peter Guenther, Raymonda Varon, Maria Schlicke, et al.
Human Mutation|April 18, 2007
Aberrant splicing is a common mutational mechanism in MKS1, a key player in Meckel-Gruber syndromeValeska Frank, Nadina Ortiz Brüchle, Silke Mager, et al.
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