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Human Mutation|August 19, 2006
Expanding the spectrum of TBX5 mutations in Holt-Oram syndrome: detection of two intragenic deletions by quantitative real time PCR, and report of eight novel point mutationsWiktor Borozdin, Ana M Bravo Ferrer Acosta, Michael J Bamshad, et al.American Journal of Medical Genetics. Part A|June 28, 2006
Pre- and postnatal findings in trisomy 17 mosaicismBarbara Utermann, Mariluce Riegel, Dru Leistritz, et al.European Journal of Medical Genetics|July 16, 2013
An update on ECARUCA, the European Cytogeneticists Association Register of Unbalanced Chromosome AberrationsAnneke T Vulto-van Silfhout, Conny M A van Ravenswaaij, Jayne Y Hehir-Kwa, et al.Genome Research|July 16, 2010
Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15Andrew J Sharp, Eugenia Migliavacca, Yann Dupre, et al.Journal of Medical Genetics|November 6, 2012
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndromeAudrey Putoux, Sheela Nampoothiri, Nicole Laurent, et al.European Journal of Human Genetics : EJHG|December 27, 2007
Identification of non-recurrent submicroscopic genome imbalances: the advantage of genome-wide microarrays over targeted approachesDavid A Koolen, Erik A Sistermans, Willy Nilessen, et al.Human Mutation|November 10, 2018
Small supernumerary marker chromosomes: A legacy of trisomy rescue?Nehir Edibe Kurtas, Luciano Xumerle, Lorena Leonardelli, et al.European Journal of Human Genetics : EJHG|January 12, 2018
Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signalingReza Asadollahi, Justin E Strauss, Martin Zenker, et al.Nature Genetics|August 15, 2006
A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphismDavid A Koolen, Lisenka E L M Vissers, Rolph Pfundt, et al.Human Molecular Genetics|July 10, 2012
An ancient founder mutation in PROKR2 impairs human reproductionMagdalena Avbelj Stefanija, Marc Jeanpierre, Gerasimos P Sykiotis, et al.Pageof 6