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Nature Genetics|August 31, 2010
Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndromePeter M Krawitz, Michal R Schweiger, Christian Rödelsperger, et al.BMC Genomics|July 31, 2009
Generation and analysis of a 29,745 unique Expressed Sequence Tags from the Pacific oyster (Crassostrea gigas) assembled into a publicly accessible database: the GigasDatabaseElodie Fleury, Arnaud Huvet, Christophe Lelong, et al.Gene|December 7, 2007
Increasing genomic information in bivalves through new EST collections in four species: development of new genetic markers for environmental studies and genome evolutionArnaud Tanguy, Nicolas Bierne, Carlos Saavedra, et al.Kidney International|June 1, 2022
Diverse molecular causes of unsolved autosomal dominant tubulointerstitial kidney diseasesFlorian J Wopperer, Karl X Knaup, Kira J Stanzick, et al.Nature Genetics|August 11, 2025
Genetic variation at transcription factor binding sites largely explains phenotypic heritability in maizeJulia Engelhorn, Samantha J Snodgrass, Amelie Kok, et al.European Journal of Human Genetics : EJHG|January 27, 2011
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1Lars R Jensen, Wei Chen, Bettina Moser, et al.American Journal of Human Genetics|November 4, 2017
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial DysfunctionNadja Ehmke, Luitgard Graul-Neumann, Lukasz Smorag, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 7, 2022
Alternative splicing of BUD13 determines the severity of a developmental disorder with lipodystrophy and progeroid featuresUwe Kornak, Namrata Saha, Boris Keren, et al.European Journal of Heart Failure|July 14, 2011
Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart FailureStephan Waldmüller, Jeanette Erdmann, Priska Binner, et al.American Journal of Human Genetics|March 19, 2013
Mutations in WNT1 cause different forms of bone fragilityKatharina Keupp, Filippo Beleggia, Hülya Kayserili, et al.Pageof 52