Publications
ASC-1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy. Ann Neurol 87, 217-232 (2020).
An exome sequencing study of Moebius syndrome including atypical cases reveals an individual with CFEOM3A and a mutation. Cold Spring Harb Mol Case Stud 3, a000984 (2017).
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. Am J Med Genet A 173, 2763-2771 (2017).
Improving genetic diagnosis in Mendelian disease with transcriptome sequencing. Sci Transl Med 9, (2017).
Sequence variants in nine different genes underlying rare skin disorders in 10 consanguineous families. Int J Dermatol 56, 1406-1413 (2017).