Lance H. Rodan

Medical Genetics

300 Longwood Ave
Boston, MA 02115

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 118 publications

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: American journal of human genetics

Published: February 15, 2026

A patient with a rare metabolic disease and myo-inositol administration leading to a new treatment for epilepsy.

A patient with a rare metabolic disease and myo-inositol administration leading to a new treatment for epilepsy.

Journal: Molecular genetics and metabolism

Published: January 19, 2026

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Further characterization of the BRSK2-associated neurodevelopmental disorder.

Journal: European journal of human genetics : EJHG

Published: January 13, 2026

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

BHLHE22 monoallelic and biallelic variants cause a neurodevelopmental disorder with agenesis of the corpus callosum, intellectual disability, abnormal muscle tone and movement abnormalities.

Journal: Journal of medical genetics

Published: December 26, 2025

Scaling genomic reanalysis to unlock diagnoses and transform rare disease care.

Scaling genomic reanalysis to unlock diagnoses and transform rare disease care.

Journal: HGG advances

Published: November 02, 2025

Epilepsy Phenotype and EEG Finding of Rhythmic High-Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency.

Epilepsy Phenotype and EEG Finding of Rhythmic High-Amplitude Delta With Superimposed Spikes (RHADS) in Succinate Dehydrogenase Deficiency.

Journal: JIMD reports

Published: September 23, 2025

The use of synaptic extracellular myo-inositol to treat Developmental and Epileptic Encephalopathy.

The use of synaptic extracellular myo-inositol to treat Developmental and Epileptic Encephalopathy.

Journal: Annals of the Child Neurology Society

Published: August 29, 2025

Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report.

Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report.

Journal: Pediatrics

Published: June 22, 2025

Neuroimaging Findings in Carbonic Anhydrase VA Deficiency: A Case Series Highlighting Diagnostic and Prognostic Patterns in a Potentially Reversible Mitochondrial Dysfunction.

Neuroimaging Findings in Carbonic Anhydrase VA Deficiency: A Case Series Highlighting Diagnostic and Prognostic Patterns in a Potentially Reversible Mitochondrial Dysfunction.

Journal: AJNR. American journal of neuroradiology

Published: June 12, 2025

Diverse Genetic Etiologies of Unilateral Polymicrogyria.

Diverse Genetic Etiologies of Unilateral Polymicrogyria.

Journal: Annals of neurology

Published: May 20, 2025

Showing 1-12 of 118

Last Updated: 09/26/2026