C. Tifft

Scanning for telomeric deletions and duplications and uniparental disomy using genetic markers in 120 children with malformations

A. Guttmacher, L. Biesecker, J. Graham, 2001, Human Genetics.

Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science

William E. Byrd, Gabor T. Marth, David R. Murdock, 2020, Genetics in Medicine.

Loss-of-function alanyl-tRNA synthetase mutations cause an autosomal-recessive early-onset epileptic encephalopathy with persistent myelination defect.

A. Vanderver, R. Taft, J. Schreiber, 2015, American journal of human genetics.

The African origin of the common mutation in African American patients with glycogen-storage disease type II.

C. Tifft, N. Raben, A. Reuser, 1998, American journal of human genetics.

Detection of chromosomal aberrations by a whole-genome microsatellite screen.

L. Biesecker, Y. Ning, R. Pauli, 2000, American journal of human genetics.

Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum

Eliza M. Gordon-Lipkin, Ellen F. Macnamara, P. McGuire, 2021, Molecular genetics & genomic medicine.