Association of a <it>de novo </it>16q copy number variant with a phenotype that overlaps with Lenz microphthalmia and Townes-Brocks syndromes

by Johnston Jennifer J, Ng David, Schneider Adele S, Bardakjian Tanya M, Biesecker Leslie G
Published 2009-12-01

Genetic defects of <it>GDF6 </it>in the zebrafish <it>out of sight </it>mutant and in human eye developmental anomalies

by den Hollander Anneke I, Biyanwila Janisha, Kovach Peter, Bardakjian Tanya, Traboulsi Elias I, Ragge Nicola K, Schneider Adele, Malicki Jarema
Published 2010-11-01

Targeted 'Next-Generation' sequencing in anophthalmia and microphthalmia patients confirms <it>SOX2</it>, <it>OTX2</it> and <it>FOXE3</it> mutations

by Lopez Jimenez Nelson, Flannick Jason, Yahyavi Mani, Li Jiang, Bardakjian Tanya, Tonkin Leath, Schneider Adele, Sherr Elliott H, Slavotinek Anne M
Published 2011-12-01