Classical Investigation of Incomplete Collagen C-propeptide Processing Reveals a Distinctive High Bone Mass OI Phenotype
Comparison of Programs for in silico Assessment of Missense Substitutions
A TCTN2 mutation defines a novel Meckel Gruber syndrome locus
Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations
Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations
COL1 C-propeptide cleavage site mutations cause high bone mass osteogenesis imperfecta
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition
Comparative analysis of germline and somatic microlesion mutational spectra in 17 human tumor suppressor genes
Evolutionary genetics evidence of an essential, nonredundant role of the IFN-γ pathway in protective immunity
Functional characterization of naturally occurring genetic variants in the human TLR1-2-6 gene family
Functional characterization of GNAS mutations found in patients with pseudohypoparathyroidism type Ic defines a new subgroup of pseudohypoparathyroidism affecting selectively Gsα-receptor interaction
Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed
A complex phenotype of peripheral neuropathy, myopathy, hoarseness, and hearing loss is linked to an autosomal dominant mutation in MYH14
Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary
Detection of large gene rearrangements in X-linked genes by dosage analysis: identification of novel α-galactosidase A ( GLA ) deletions causing Fabry disease
The educational role of external quality assessment in genetic testing: a 7-year experience of the European Molecular Genetics Quality Network (EMQN) in Lynch syndrome
Genetic Analysis in Translational Medicine: The 2010 GOLDEN HELIX Symposium
Monozygotic twins discordant for neurofibromatosis type 1 due to a postzygotic NF1 gene mutation
Analysis of the disintegrin-metalloproteinases family reveals ADAM29 and ADAM7 are often mutated in melanoma
Germline mutations in the PALB2 gene are population specific and occur with low frequencies in familial breast cancer
IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase ( IDUA ) alleles
Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I
miRvar: A comprehensive database for genomic variations in microRNAs
Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa