Concepedia

Marjorie J. Lindhurst

MJ

Statistics

Publications

20

Citations

3.3K

H-Index

16

Active since

1986

Affiliations

National Human Genome Research Institute(Current)

National Institutes of Health

Uniformed Services University of the Health Sciences

University of Washington

Wellcome/MRC Institute of Metabolic Science

Marjorie J. Lindhurst is an author at National Human Genome Research Institute specializing in genetics, medicine, and proteus syndrome.

Publications per year

1986–2021

20

Publications

20

A Mosaic Activating Mutation in <i>AKT1</i> Associated with the Proteus Syndrome

Marjorie J. Lindhurst, Julie C. Sapp, Jamie K. Teer et al. · New England Journal of Medicine · 2011 · 887 citations · Full text

Life Sciences, Genetics, Molecular Genetics +14

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

Kim M. Keppler‐Noreuil, Jonathan J. Rios, Victoria Parker et al. · American Journal of Medical Genetics Part A · 2014 · 572 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

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

Marjorie J. Lindhurst, Victoria E R Parker, Felicity Payne et al. · Nature Genetics · 2012 · 325 citations

Life Sciences, Genetics, Molecular Genetics +10

Clinical delineation and natural history of the <i>PIK3CA</i>‐related overgrowth spectrum

Kim M. Keppler‐Noreuil, Julie C. Sapp, Marjorie J. Lindhurst et al. · American Journal of Medical Genetics Part A · 2014 · 312 citations · Full text

Medicine, Pathology, Pediatrics +16

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

Lara Al-Olabi, Satyamaanasa Polubothu, Katherine Dowsett et al. · Journal of Clinical Investigation · 2018 · 286 citations · Full text

Medicine, Genetics, Molecular Genetics +17

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