Biallelic loss of LDB3 leads to a lethal pediatric dilated cardiomyopathyTamara T. Koopmann, Reza Maroofian, Carlos E. Prada et al.|European Journal of Human Genetics|2022Cited by 13
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiencyHuw B. Thomas, William G. Newman, Sait Tümer et al.|The American Journal of Human Genetics|2025Cited by 7