De Novo Deletion of Chromosome 20q13.33 in a Patient with Tracheo-esophageal Fistula, Cardiac Defects and Genitourinary Anomalies Implicates GTPBP5 as a Candidate Gene

por Solomon, Benjamin D, Pineda–Alvarez, Daniel E, Hadley, Donald W, Keaton, Amelia A, Agochukwu, Nneamaka B, Raam, Manu S, Carlson–Donohoe, Hannah E, Kamat, Aparna, Chandrasekharappa, Settara C
Publicado 2011

Homozygosity Mapping and Whole Exome Sequencing to Detect SLC45A2 and G6PC3 Mutations in a Single Patient with Oculocutaneous Albinism and Neutropenia

por Cullinane, Andrew R., Vilboux, Thierry, O’Brien, Kevin, Curry, James A., Maynard, Dawn M., Carlson-Donohoe, Hannah, Ciccone, Carla, Markello, Thomas C., Gunay-Aygun, Meral, Huizing, Marjan, Gahl, William A.
Publicado 2011