Authors:
Cushion, Thomas D.
Paciorkowski, Alex R.
Pilz, Daniela T.
Citation: D. Cushion, Thomas et al., De Novo Mutations in the Beta-Tubulin Gene TUBB2A Cause Simplified Gyral Patterning and Infantile-Onset Epilepsy, American journal of human genetics (Online) AJHG , 94(4), 2014, pp. 634-641
Authors:
Kashiyama, Kazuya
Nakazawa, Yuka
Pilz, Daniela T.
Citation: Kashiyama, Kazuya et al., Malfunction of Nuclease ERCC1-XPF Results in Diverse Clinical Manifestations and Causes Cockayne Syndrome, Xeroderma Pigmentosum, and Fanconi Anemia, American journal of human genetics (Online) AJHG , 92(5), 2013, pp. 807-819
Authors:
Cardoso, Carlos
Leventer, Richard J.
Ward, Heather L.
Toyo-oka, Kazuhito
Chung, June
Gross, Alyssa
Martin, Christa L.
Allanson, Judith
Pilz, Daniela T.
Olney, Ann H.
Mutchinick, Osvaldo M.
Hirotsune, Shinji
Wynshaw-Boris, Anthony
Dobyns, William B.
Ledbetter, David H.
Citation: Cardoso, Carlos et al., Refinement of a 400-kb Critical Region Allows Genotypic Differentiation between Isolated Lissencephaly, Miller-Dieker Syndrome, and Other Phenotypes Secondary to Deletions of 17p13.3, American journal of human genetics , 72(4), 2003, pp. 918-930