Journal Article (1124)
661.
Journal Article
17, 67 (2016)
sciReptor: analysis of single-cell level immunoglobulin repertoires. BMC Bioinformatics 662.
Journal Article
33 (1), pp. 185 - 200 (2016)
Evolution of DNA-Binding Sites of a Floral Master Regulatory Transcription Factor. Molecular Biology and Evolution 663.
Journal Article
89 (1), pp. 120 - 127 (2016)
New insights into Brunner syndrome and potential for targeted therapy. Clinical Genetics: an international journal of genetics in medicine 664.
Journal Article
33 (5), pp. 1231 - 1244 (2016)
Human Lineage-Specific Transcriptional Regulation through GA-Binding Protein Transcription Factor Alpha (GABPa). Molecular Biology and Evolution 665.
Journal Article
7, 13784 (2016)
Corrigendum: Sequences flanking the core-binding site modulate glucocorticoid receptor structure and activity. Nature Communications 666.
Journal Article
7, 12621 (2016)
Sequences flanking the core-binding site modulate glucocorticoid receptor structure and activity. Nature Communications 667.
Journal Article
11 (2), e0147904 (2016)
Analysis of Genes Involved in Body Weight Regulation by Targeted Re-Sequencing. PLoS One 668.
Journal Article
9, 9:57 (2016)
A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3. Molecular Cytogenetics 669.
Journal Article
24 (25), pp. 7171 - 7181 (2015)
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems. Human Molecular Genetics 670.
Journal Article
34 (24), pp. 3042 - 3058 (2015)
Molecular architecture of the ribosome-bound Hepatitis C Virus internal ribosomal entry site RNA. EMBO Journal 671.
Journal Article
2, 150068 (2015)
Multi-omic profiles of human non-alcoholic fatty liver disease tissue highlight heterogenic phenotypes. Scientific Data 672.
Journal Article
97 (6), pp. 922 - 932 (2015)
TAF1 Variants Are Associated with Dysmorphic Features, Intellectual Disability, and Neurological Manifestations. The American Journal of Human Genetics 673.
Journal Article
36 (12), pp. 1176 - 1187 (2015)
Defects in tRNA Anticodon Loop 2'-O-Methylation Are Implicated in Nonsyndromic X-Linked Intellectual Disability due to Mutations in FTSJ1. Human Mutation 674.
Journal Article
58 (12), pp. 715 - 718 (2015)
Penetrance of pathogenic mutations in haploinsufficient genes for intellectual disability and related disorders. European Journal of Medical Genetics 675.
Journal Article
36 (12), pp. 1155 - 1158 (2015)
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia. Human Mutation 676.
Journal Article
16, p. 1018 - 1018 (2015)
Erratum. BMC Genomics 677.
Journal Article
Low-level APC mutational mosaicism is the underlying cause in a substantial fraction of unexplained colorectal adenomatous polyposis cases. Journal of Medical Genetics, 103468 (2015)
678.
Journal Article
9, 9:84 (2015)
Reconstruction of gene networks using prior knowledge. BMC Systems Biology 679.
Journal Article
16, 16:925 (2015)
Combined ultra-low input mRNA and whole-genome sequencing of human embryonic stem cells. BMC Genomics 680.
Journal Article
16, p. 904 (2015)
The direction of cross affects [corrected] obesity after puberty in male but not female offspring. BMC Genomics