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American Journal of Medical Genetics. Part A|June 4, 2021
Proximal variants in CCND2 associated with microcephaly, short stature, and developmental delay: A case series and review of inverse brain growth phenotypesFilomena Pirozzi, Benson Lee, Nicole Horsley, et al.
Brain : a Journal of Neurology|March 31, 2022
Profiling PI3K-AKT-MTOR variants in focal brain malformations reveals new insights for diagnostic careFilomena Pirozzi, Matthew Berkseth, Rylee Shear, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 7, 2021
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorderDaniel L Polla, Mohammad Ali Farazi Fard, Zahra Tabatabaei, et al.
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