LanceHarringtonRodanMD

Clinical Biochemical Genetics, Clinical Genetics, Medical Biochemical Genetics

Physician

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PubMed

Case Report of Friedreich's Ataxia and ALG1-Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia.
Aisling Quinlan, Lance Rodan, Elizabeth Barkoudah, Amy Tam, Afshin Saffari
American Journal of Medical Genetics. Part A. 2024-09-26
6 citations
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome.
Yuyang Chen, Ruebena Dawes, Hyung Chul Kim, Alicia Ljungdahl, Sarah L Stenton
Nature. 2024-08-01
Diagnostic Yield of CSF Testing in Infants for Disorders of Biogenic Amine Neurotransmitter Metabolism.
Riley Kessler, France W Fung, Amisha Patel, Nishtha Gupta, Trevor McHugh
Neurology. 2024-05-01

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