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Oncogene|February 7, 2017
Detecting intratumoral heterogeneity of EGFR activity by liposome-based in vivo transfection of a fluorescent biosensorG Weitsman, N J Mitchell, R Evans, et al.
Human Molecular Genetics|January 10, 2015
MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosusFabiola Quintero-Rivera, Qiongchao J Xi, Kim M Keppler-Noreuil, et al.
American Journal of Medical Genetics. Part A|May 8, 2016
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK pathwayDavid A Stevenson, Lisa Schill, Lisa Schoyer, et al.
American Journal of Medical Genetics. Part A|May 1, 2014
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrumKim M Keppler-Noreuil, Julie C Sapp, Marjorie J Lindhurst, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 2, 2018
Safety and efficacy of low-dose sirolimus in the PIK3CA-related overgrowth spectrumVictoria E R Parker, Kim M Keppler-Noreuil, Laurence Faivre, et al.
American Journal of Medical Genetics. Part A|February 8, 2024
Personal journeys to and in human genetics and dysmorphologyCharles E Schwartz, Arthur S Aylsworth, Judith Allanson, et al.
The New England Journal of Medicine|July 29, 2011
A mosaic activating mutation in AKT1 associated with the Proteus syndromeMarjorie J Lindhurst, Julie C Sapp, Jamie K Teer, et al.
The Journal of Clinical Investigation|February 21, 2018
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapyLara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett, et al.
Brain : a Journal of Neurology|December 8, 2022
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcificationsAshish R Deshwar, Cheryl Cytrynbaum, Harsha Murthy, et al.
Nature|January 24, 2012
Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalitiesLynn M Boyden, Murim Choi, Keith A Choate, et al.
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