Martin Bobrow

TL;DR: The contribution of rare and low-frequency variants to human traits is largely unexplored as mentioned in this paper, but the contribution of these variants to the human traits has not yet been fully explored.

TL;DR: It is anticipated that array-CGH will become a routine method of genome-wide screening for imbalanced rearrangements in children with learning disability and dysmorphism.

TL;DR: It is demonstrated that individuals with this fragile site FRAXE possess amplifications of a GCC repeat adjacent to a CpG island in Xq28 of the human X chromosome, another example in which a trinucleotide repeat expansion is associated with a human genetic disorder.

TL;DR: 41 families with classic Alport's syndrome (hereditary nephritis with sensorineural deafness) were studied and linkage to probe S21 (DXS17) was confirmed, localising the gene for Alport’s syndrome to the middle of Xq; thus the disorder is X-chromosomal in nature.

TL;DR: The relatively high frequency of CUL4B mutations in this series indicates that it is one of the most commonly mutated genes underlying XLMR and suggests that its introduction into clinical diagnostics should be a high priority.