Study results regarding the clinical spectrum and inheritance pattern of GDF2 pathogenic variants suggest incomplete penetrance and/or variability of expressivity with a semi-dominant pattern of ...

Forty years ago, a postdoctoral researcher named James McGrath who would go on to spend more than three decades as a clinical geneticist and research scientist at Yale, made a discovery that advanced ...

Scientists have unraveled the enigma of inheritance of coat color patterns in dogs. The researchers discovered that a genetic variant responsible for a very light coat in dogs and wolves originated ...

Jaime Murillo, MD, explores genetic inheritance patterns of Lp(a) from childhood to adulthood, highlighting stability, factors affecting measurement, and awareness challenges among those in the health ...

The human genome is a rich, complex record of migration, encounters, and inheritance written over thousands of millennia. Genomic research by members of Sarah Tishkoff's lab at the University of ...

Touching Base is the dynamic podcast series from the editors of GEN. Each episode features a rotating case of senior editors—including John Sterling, Kevin Davies, Julianna LeMieux, Alex Phillippidis, ...

Although schwannomatosis is a genetic condition, the inheritance patterns for this disorder are complex and much less clear than for both NF1 and NF2. Some cases of schwannomatosis are familial, with ...