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Annals of the New York Academy of Sciences|January 22, 2009
Progress in the understanding of the genetic etiology of vertebral segmentation disorders in humansPhilip F Giampietro, Sally L Dunwoodie, Kenro Kusumi, et al.Expert Opinion on Medical Diagnostics|March 19, 2013
Molecular diagnosis of vertebral segmentation disorders in humansPhilip F Giampietro, Sally L Dunwoodie, Kenro Kusumi, et al.American Journal of Human Genetics|May 20, 2008
Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndromeAlberto S Cornier, Karen Staehling-Hampton, Kym M Delventhal, et al.Nature Genetics|July 16, 2002
Identification of the gene (BBS1) most commonly involved in Bardet-Biedl syndrome, a complex human obesity syndromeKirk Mykytyn, Darryl Y Nishimura, Charles C Searby, et al.American Journal of Human Genetics|January 14, 2003
Evaluation of complex inheritance involving the most common Bardet-Biedl syndrome locus (BBS1)Kirk Mykytyn, Darryl Y Nishimura, Charles C Searby, et al.European Journal of Human Genetics : EJHG|May 8, 2020
Functional biology of the Steel syndrome founder allele and evidence for clan genomics derivation of COL27A1 pathogenic alleles worldwideClaudia Gonzaga-Jauregui, Gozde Yesil, Harikiran Nistala, et al.Genome Medicine|December 19, 2024
Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expressionDavut Pehlivan, Jesse D Bengtsson, Sameer S Bajikar, et al.Pageof 2