Powerful, recent advances in technologies to analyze the genome have had a profound
impact on the practice of medical genetics, both in the laboratory and in the clinic. Increasing …

… Using a dose-dependent assessment of intravenous treatment of CART133, we validated
CART133’s putative toxicity in the humanized mouse model. However, a significant effect on …

Umbilical cord blood-derived haematopoietic stem cells (HSCs) are essential for many life-saving
regenerative therapies. However, despite their advantages for transplantation, their …

… or Oxford Nanopore’s approach of monitoring electrical current … This is partly due to this
technology’s high error rates (~15%) … composition of a patient’s genome but is likely years away …

ClinVar provides open access to variant classifications shared from many clinical laboratories.
Although most classifications are consistent across laboratories, classification differences …

… groups were calculated using the Student’s t-test, two-tailed, with … using the ANOVA and
Tukey’s or Dunnett’s post hoc test. … Running the models for 10 s (here shown 1 s) with the resting …

… Clinical laboratory geneticists are encouraged to document in the patient’s record the
rationale for the use of a particular procedure or test, whether or not it is in conformance with this …

… E output with only the shorter isoforms (-S and -B) enhancing GEMM … In PLAG1-S
overexpressing (PLAG1-S OE ) cultures … -S and PLAG1-B, we prioritized the shortest form, …

Purpose Neurodevelopmental disorders represent a frequent indication for clinical exome
sequencing. Fifty percent of cases, however, remain undiagnosed even upon exome …

Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental
disorder characterized by highly variable manifestations of growth and developmental …