Concepedia

Colleen Macmurdo

CM

4

Publications

524

Citations

4

H-Index

2015

Active since

Affiliations

Stanford University(Current)

Colleen Macmurdo is an author at Stanford University specializing in gene expression, molecular genetics, and medicine.

Top concepts

Publications per year

2015–2016

4

Publications

4

Association of <i>MTOR</i> Mutations With Developmental Brain Disorders, Including Megalencephaly, Focal Cortical Dysplasia, and Pigmentary Mosaicism

Ghayda Mirzaa, Catarina D. Campbell, Nadia Solovieff et al. · JAMA Neurology · 2016 · 272 citations · Full text

De Novo Nonsense Mutations in KAT6A, a Lysine Acetyl-Transferase Gene, Cause a Syndrome Including Microcephaly and Global Developmental Delay

Valerie A. Arboleda, Hane Lee, Naghmeh Dorrani et al. · The American Journal of Human Genetics · 2015 · 136 citations · Full text

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<i>RASA1</i> somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome

Colleen Macmurdo, Whitney Wooderchak‐Donahue, Pinar Bayrak‐Toydemir et al. · American Journal of Medical Genetics Part A · 2016 · 103 citations

Haemodialysis is an effective treatment in acute metabolic decompensation of maple syrup urine disease

Paldeep S. Atwal, Colleen Macmurdo, Paul C. Grimm · Molecular Genetics and Metabolism Reports · 2015 · 13 citations · Full text

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