LanceHarringtonRodanMD

Clinical Biochemical Genetics, Clinical Genetics, Medical Biochemical Genetics

Physician

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PubMed

137 citations
MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human Genome.
Julia Wang, Rami Al-Ouran, Yanhui Hu, Seon Young Kim, Ying-Wooi Wan
American Journal of Human Genetics. 2017-06-01
8 citations
The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.
Abbe Lai, Aubrie Soucy, Christelle Moufawad El Achkar, Anthony J Barkovich, Yang Cao
Genetics in Medicine. 2022-11-01
10 citations
Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings.
Christopher M. McGraw, Sonal Mahida, Parul Jayakar, Hyun Yong Koh, Alan Taylor
Annals of Clinical and Translational Neurology. 2021-01-26

Journal Articles

Gain‐of‐Function Variants in the ODC1 Gene Cause a Syndromic Neurodevelopmental Disorder Associated with Macrocephaly, Alopecia, Dysmorphic Features, and Neuroimaging ...
Sanjeev V Kothare, Farrah Rajabi, Annapurna Poduri, Lance H Rodan, Ralph J DeBerardinis, American Journal of Medical Genetics Part A
The Spectrum of Movement Disorders in Childhood‐Onset Lysosomal Storage Diseases
Peter E Davis, Clara Hildebrandt, Irina Anselm, Lance H Rodan, Movement Disorders Clinical Practice
Defining the Phenotypic Spectrum of SLC6A1 Mutations
Lance H Rodan, Heather C Mefford, Lynne M Bird, Sara Chadwick Reichert, Mark Nespeca, Orrin Devinsky, Sarah Hopkins, Laura Pisani, John J Millichap, Joseph G Gleeson, Epilepsia