Segmental Overgrowth/Vascular Anomalies/Dermatologic Disorders

A mosaic activating mutation in AKT1 associated with the Proteus syndrome.

M. Lindhurst, Julie C. Sapp, J. Teer, et al.. (2011). The New England journal of medicine. Cited 525 times. https://doi.org/10.1056/NEJMoa1104017

PIK3CA‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation

K. Keppler-Noreuil, J. Rios, V. Parker, et al.. (2015). American Journal of Medical Genetics Part A. Cited 488 times. https://doi.org/10.1002/ajmg.a.36836

Mosaic overgrowth with fibroadipose hyperplasia is caused by somatic activating mutations in PIK3CA

M. Lindhurst, V. Parker, F. Payne, et al.. (2012). Nature Genetics. Cited 303 times. https://doi.org/10.1038/ng.2332

Clinical Delineation and Natural History of the PIK3CA-Related Overgrowth Spectrum**

K. Keppler-Noreuil, Julie C. Sapp, M. Lindhurst, et al.. (2014). American Journal of Medical Genetics. Part a. Cited 277 times. https://doi.org/10.1002/ajmg.a.36552

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

L. Al-Olabi, S. Polubothu, K. Dowsett, et al.. (2018). The Journal of Clinical Investigation. Cited 231 times. https://doi.org/10.1172/JCI98589

Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrum

V. Parker, K. Keppler-Noreuil, L. Faivre, et al.. (2018). Genetics in Medicine. Cited 140 times. https://doi.org/10.1038/s41436-018-0297-9

Pharmacodynamic Study of Miransertib in Individuals with Proteus Syndrome.

K. Keppler-Noreuil, Julie C. Sapp, M. Lindhurst, et al.. (2019). American journal of human genetics. Cited 82 times. https://doi.org/10.1016/j.ajhg.2019.01.015

Repression of AKT signaling by ARQ 092 in cells and tissues from patients with Proteus syndrome

M. Lindhurst, Miranda R Yourick, Yi Yu, et al.. (2015). Scientific Reports. Cited 60 times. https://doi.org/10.1038/srep17162

Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.

L. Al-Olabi, S. Polubothu, K. Dowsett, et al.. (2018). The Journal of clinical investigation. Cited 30 times. https://doi.org/10.1172/JCI124649

Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms Tumor in PIK3CA-related overgrowth spectrum (PROS)

Marta Biderman Waberski, M. Lindhurst, K. Keppler-Noreuil, et al.. (2018). Genetics in medicine : official journal of the American College of Medical Genetics. Cited 29 times. https://doi.org/10.1038/gim.2017.228

Somatic AKT1 mutations cause meningiomas colocalizing with a characteristic pattern of cranial hyperostosis

K. Keppler-Noreuil, E. Baker, Julie C. Sapp, et al.. (2016). American Journal of Medical Genetics Part A. Cited 29 times. https://doi.org/10.1002/ajmg.a.37737

AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome

M. Lindhurst, Ji‐an Wang, Hadley M. Bloomhardt, et al.. (2013). The Journal of investigative dermatology. Cited 28 times. https://doi.org/10.1038/jid.2013.312

Lack of mutation–histopathology correlation in a patient with Proteus syndrome

Meggie E. Doucet, Hadley M. Bloomhardt, K. Moroz, et al.. (2016). American Journal of Medical Genetics Part A. Cited 20 times. https://doi.org/10.1002/ajmg.a.37612

A limited form of proteus syndrome with bilateral plantar cerebriform collagenomas and varicose veins secondary to a mosaic AKT1 mutation.

J. Wee, P. Mortimer, M. Lindhurst, et al.. (2014). JAMA dermatology. Cited 16 times. https://doi.org/10.1001/jamadermatol.2013.10368

Pathogenetic insights from quantification of the cerebriform connective tissue nevus in Proteus syndrome

N. Nathan, R. Patel, M. Crenshaw, et al.. (2017). Journal of the American Academy of Dermatology. Cited 14 times. https://doi.org/10.1016/j.jaad.2017.10.018

A mouse model of Proteus syndrome.

M. Lindhurst, L. Brinster, Hannah C. Kondolf, et al.. (2019). Human molecular genetics. Cited 12 times. https://doi.org/10.1093/hmg/ddz116

Molecular heterogeneity of the cerebriform connective tissue nevus in mosaic overgrowth syndromes.

K. Keppler-Noreuil, Jasmine Burton-Akright, M. Lindhurst, et al.. (2019). Cold Spring Harbor molecular case studies. Cited 5 times. https://doi.org/10.1101/mcs.a004036