Objective Current counseling recommendations following a diagnosis of an apparently de
novo autosomal dominant (AD) disorder in a child cite a recurrence risk of approximately 1 …

Background Autosomal dominant (AD) disorders are considered to be the result of de novo
pathogenic variants when both biological parents are negative for symptoms of that …

Objective To illustrate the burden of inherited disease on donor-conceived offspring based
on mode of inheritance and to provide guidance on methods of risk reduction. Design An 8.5 …

OBJECTIVE Toexamine reports of autosomal recessive (AR) conditions in donor-conceived
offspring from three US sperm banks to determine how the implementation of carrier …

Objective De novo mutations contribute significantly to severe early‐onset genetic disorders.
Even if the mutation is apparently de novo, there is a recurrence risk due to parental germ …

Background De novo mutations (DNMs) are linked with many severe early-onset disorders
ranging from rare congenital malformation to intellectual disability. Conventionally, DNMs …

PCR amplification on single cells is prone to allele drop-out (PCR failure of one allele), a
cause of misdiagnosis in preimplantation genetic diagnosis (PGD). Owing to this error risk …

In man evidence of autosomal recessive disease is usually based on a high sib risk,
absence of parent‐child transmission and increased consanguinity. Discrimination from …

The disease burden of de novo mutations (DNMs) has been evidenced only recently when
the common application of next‐generation sequencing technologies enabled their reliable …

Background Prezygotic de novo mutations may be inherited from parents with germline
mosaicism and are often overlooked when the resulting phenotype affects only one child …