D. Jensen

Acetylsalicylic acid suppression of the PI3K pathway as a novel medical therapy for head and neck lymphatic malformations.

W. Dobyns, R. Bly, J. Perkins, 2021, International journal of pediatric otorhinolaryngology.

Characterization of a severe case of PIK3CA‐related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 patients

C. Pritchard, K. Tsuchiya, G. Mirzaa, 2018, American journal of medical genetics. Part A.

Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia

Steven P. Miller, D. Segal, J. Volkmann, 2020 .

Genotype correlates with clinical severity in PIK3CA-associated lymphatic malformations.

W. Dobyns, R. Bly, J. Perkins, 2019, JCI insight.

Homozygous Mutations in CSF1R Cause a Pediatric-Onset Leukoencephalopathy and Can Result in Congenital Absence of Microglia.

Jeroen A. A. Demmers, R. Hevner, C. Keene, 2019, American journal of human genetics.

Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth.

E. Mercan, R. Bly, T. Wenger, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Mosaic Activating Mutations in FGFR1 Cause Encephalocraniocutaneous Lipomatosis.

B. Chung, R. Hennekam, L. Biesecker, 2016, American journal of human genetics.