Publicacións (3)

2020

  1. Complete Sequence of the 22q11.2 Allele in 1,053 Subjects with 22q11.2 Deletion Syndrome Reveals Modifiers of Conotruncal Heart Defects

    American Journal of Human Genetics, Vol. 106, Núm. 1, pp. 26-40

2018

  1. Retraction Notice to: Nested Inversion Polymorphisms Predispose Chromosome 22q11.2 to Meiotic Rearrangements (The American Journal of Human Genetics (2017) 101(4) (616–622), (S0002929717303695) (10.1016/j.ajhg.2017.09.002))

    American Journal of Human Genetics

  2. Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects

    American Journal of Medical Genetics, Part A, Vol. 176, Núm. 10, pp. 2172-2181