– Risk of spontaneous preterm birth and fetal growth associates with fetal SLIT2.
– Bioinformatics-Based Identification of Expanded Repeats: A Non-reference Intronic Pentamer Expansion in RFC1 Causes CANVAS.
– CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
– Pathologic gene network rewiring implicates PPP1R3A as a central regulator in pressure overload heart failure.
Nuevas variantes y asociaciones de riesgo
Filed under Bioinformática, Cardiopatías, Defectos congénitos, Diagnóstico, Neurogenética, Polimorfismos by on . 
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