Journal Article (51)
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Journal Article
88 (1), pp. 70 - 5 (2011)
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. Am J Hum Genet 22.
Journal Article
12, p. 418 (2011)
Improving ontologies by automatic reasoning and evaluation of logical definitions. BMC Bioinformatics 23.
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9, p. 82 (2011)
MIA is a potential biomarker for tumour load in neurofibromatosis type 1. BMC Med 24.
Journal Article
22 (1), pp. 1 - 11 (2011)
NOA1 is an essential GTPase required for mitochondrial protein synthesis. Molecular Biology of the Cell 25.
Journal Article
78 (6), pp. 561 - 7 (2011)
Animal models with pathological mineralization phenotypes. Joint Bone Spine 26.
Journal Article
48 (6), pp. 396 - 406 (2011)
The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet 27.
Journal Article
20 (14), pp. 2697 - 709 (2011)
Neurofibromin (Nf1) is required for skeletal muscle development. Hum Mol Genet 28.
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176 (2), pp. 159 - 67 (2011)
Fetal and postnatal mouse bone tissue contains more calcium than is present in hydroxyapatite. J Struct Biol 29.
Journal Article
6 (8), p. e23381 - e23381 (2011)
An RNA interference phenotypic screen identifies a role for FGF signals in colon cancer progression. PLoS ONE 30.
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32 (5), pp. 495 - 500 (2011)
Bioinformatics for human genetics: promises and challenges. Hum Mutat 31.
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9, p. 70 (2011)
Negative enrichment by immunomagnetic nanobeads for unbiased characterization of circulating tumor cells from peripheral blood of cancer patients. J Transl Med 32.
Journal Article
10 (17), pp. 2967 - 77 (2011)
Misregulation of mitotic chromosome segregation in a new type of autosomal recessive primary microcephaly. Cell Cycle 33.
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34 (4), pp. 907 - 16 (2011)
Metabolic cutis laxa syndromes. J Inherit Metab Dis 34.
Journal Article
96 (1), pp. E189 - 98 (2011)
Autosomal recessive mental retardation, deafness, ankylosis, and mild hypophosphatemia associated with a novel ANKH mutation in a consanguineous family. J Clin Endocrinol Metab 35.
Journal Article
6 (1), p. e16250 (2011)
MicroRNAs differentially expressed in postnatal aortic development downregulate elastin via 3' UTR and coding-sequence binding sites. PLoS ONE 36.
Journal Article
RANK-dependent autosomal recessive osteopetrosis: characterisation of 5 new cases with novel mutations. J Bone Miner Res (2011)
37.
Journal Article
80 (2), pp. 127 - 32 (2011)
Strategies for exome and genome sequence data analysis in disease-gene discovery projects. Clin Genet 38.
Journal Article
39 (7), pp. 2492 - 502 (2011)
Integrative analysis of genomic, functional and protein interaction data predicts long-range enhancer-target gene interactions. Nucleic Acids Res 39.
Journal Article
27 (6), pp. 829 - 36 (2011)
Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders. Bioinformatics 40.
Journal Article
27 (6), pp. 829 - 36 (2011)
Identity-by-descent filtering of exome sequence data for disease-gene identification in autosomal recessive disorders. Bioinformatics