rare diseases

Anderson KE, Desnick RJ, Bonkovsky HL, Balwani M, Barnes S, Beaven SW, Yeung AK, Erwin AL, Freeman M, Huda R, Kazamel M, Leaf RK, Keel[...]

Cui Y, Ye W, Li JS, Li JJ, Vilain E, Sallam T, Li W. A genome-wide spectrum of tandem repeat expansions in 338,963 humans. Cell.[...]