This disease is linked to biallelic loss-of-function mutations of the SMARCAL1 gene.

WES data led to identification of biallelic loss-of-function mutations in the ATF6 gene.

Similar findings were observed when limited to participants with biallelic mutations.

Here we describe seven living individuals from five families with biallelic CEP55 variants.

Moreover, RNA-DNA combined FISH experiments confirmed the biallelic expression of one such novel domain.

We retrieved cells with biallelic deletion at a frequency exceeding that of probabilistic expectation.

Using a variant classification agnostic approach, biallelic mutations in PRIM1 were identified in five individuals.

The defect in the enzymatic activity is due to biallelic mutations in the UROD gene.

In one of them the most common biallelic germline mutation in the MYH gene was detected.

We hypothesized biallelic disruption of a gene leading to a defect related to the primary cilium.

This biallelic inactivation resulted in loss of expression of MLH1 in the tumor as confirmed by immunohistochemistry.

A-T is caused by biallelic inactivation of the ATM gene, in most cases by frameshift or nonsense mutations.

RB is a primarily pediatric cancer arising from the retina, initiated by biallelic loss of the RB1 gene.

Importantly, biallelic gene knockout is obtained at high frequency by only one round of targeting using a single marker.

BS is caused by biallelic mutations in either the FKBP10 or the PLOD2 gene.

Retinoblastoma is an aggressive childhood cancer of the developing retina that is initiated by the biallelic loss of RB1.