| Clinical, functional and genetic analysis of twenty-four patients with chronic granulomatous disease - identification of eight novel mutations in CYBB and NCF2 genes | Journal of clinical immunology |  | | 2012 | 629 | 2 |
|
| Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes | The New England journal of medicine |  | | 2008 | 722 | 2,229 |
|
| Sequence variation in ultraconserved and highly conserved elements does not cause X-linked mental retardation | American journal of medical genetics. Part A |  | | 2007 | 647 | 0 |
|
| Gene duplication: a drive for phenotypic diversity and cause of human disease | Annual review of genomics and human genetics | | | 2007 | 644 | 0 |
|
| Unilateral focal polymicrogyria in a patient with classical Aarskog-Scott syndrome due to a novel missense mutation in an evolutionary conserved RhoGEF domain of the faciogenital dysplasia gene FGD1 | American journal of medical genetics. Part A |  | | 2007 | 701 | 0 |
|
| Transcriptional activation by bidirectional RNA polymerase II elongation over a silent promoter | EMBO reports |  | | 2005 | 604 | 0 |
|
| A gene encoding a novel RFX-associated transactivator is mutated in the majority of MHC class II deficiency patients | Nature genetics |  | | 1998 | 641 | 0 |
|