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European Journal of Human Genetics : EJHG|August 22, 2008
Transmitted duplication of 8p23.1-8p23.2 associated with speech delay, autism and learning difficultiesMary Glancy, Angela Barnicoat, Rajan Vijeratnam, et al.
Cytogenetic and Genome Research|April 22, 2020
Directly Transmitted 12.3-Mb Deletion with a Consistent Phenotype in the Variable 11q21q22.3 RegionBeth Kirk, Mira Kharbanda, Mark S Bateman, et al.
Human Mutation|September 11, 2008
Novel heterozygous OTX2 mutations and whole gene deletions in anophthalmia, microphthalmia and colobomaAlexander Wyatt, Preeti Bakrania, David J Bunyan, et al.
Genetic Testing|April 1, 2008
Diagnosing Smith-Magenis syndrome and duplication 17p11.2 syndrome by RAI1 gene copy number variation using quantitative real-time PCRHoa T Truong, Sara Solaymani-Kohal, Kevin R Baker, et al.
American Journal of Medical Genetics. Part A|December 2, 2017
Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalitiesMark S Bateman, Morag N Collinson, David J Bunyan, et al.
European Journal of Human Genetics : EJHG|October 18, 2007
8p23.1 duplication syndrome; a novel genomic condition with unexpected complexity revealed by array CGHJohn C K Barber, Viv K Maloney, Shuwen Huang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 4, 2020
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significanceHtoo A Wai, Jenny Lord, Matthew Lyon, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 3, 2020
Correction: Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significanceHtoo A Wai, Jenny Lord, Matthew Lyon, et al.
BMC Nephrology|November 1, 2018
Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney diseaseChristine Gast, Anthony Marinaki, Monica Arenas-Hernandez, et al.
Human Genetics|August 18, 2009
Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulatorsGaia Gestri, Robert J Osborne, Alexander W Wyatt, et al.
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