Colleen Macmurdo - Concepedia

Author

Colleen Macmurdo

Also Known As

C. Macmurdo, Colleen F. Macmurdo, Colleen Forsyth Macmurdo, Colleen Macmurdo, Colleen Forsyth Macmurdo

Publications

584

Citations

H-Index

Concepts

All Affiliations

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

#	Concept	H-Index	Publications	Citations
1	Medicine	1	1	136
2	Molecular Genetics	1	1	136
3	Developmental Biology	1	1	136
4	Gene Expression	1	1	136
5	Genetics	1	1	136

Colleen Macmurdo

Publications

524

Citations

H-Index

Page 1

	Year	Citations
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, JAMA Neurology	2016	272
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, The American Journal of Human Genetics Developmental AnomalyDevelopmental BiologyMendelian DisorderGenetic DisorderDevelopmental Genetics	2015	136
<i>RASA1</i> somatic mutation and variable expressivity in capillary malformation/arteriovenous malformation (CM/AVM) syndrome Colleen Macmurdo, Whitney Wooderchak‐Donahue, Pinar Bayrak‐Toydemir, American Journal of Medical Genetics Part A	2016	103
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

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