Paternal or maternal uniparental disomy of chromosome 16 resulting in homozygosity of a mutant allele causes Fanconi anemia

Por Donovan, Frank X., Kimble, Danielle C., Kim, Yonghwan, Lach, Francis P., Harper, Ursula, Kamat, Aparna, Jones, MaryPat, Sanborn, Erica M., Tryon, Rebecca, Wagner, John E., MacMillan, Margaret L., Ostrander, Elaine A., Auerbach, Arleen D., Smogorzewska, Agata, Chandrasekharappa, Settara C.
Publicado no Hum Mutat (2016)

De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay

Por Yang, Hui, Douglas, Ganka, Monaghan, Kristin G., Retterer, Kyle, Cho, Megan T., Escobar, Luis F., Tucker, Megan E., Stoler, Joan, Rodan, Lance H., Stein, Diane, Marks, Warren, Enns, Gregory M., Platt, Julia, Cox, Rachel, Wheeler, Patricia G., Crain, Carrie, Calhoun, Amy, Tryon, Rebecca, Richard, Gabriele, Vitazka, Patrik, Chung, Wendy K.
Publicado no Cold Spring Harb Mol Case Stud (2015)