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American Journal of Medical Genetics. Part A|June 29, 2010
Paternal isodisomy of chromosome 2 as a cause of long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiencyBerivan Baskin, Michael Geraghty, Peter N Ray
Tremor and Other Hyperkinetic Movements (New York, N.Y.)|July 5, 2018
Hemifacial Spasm in Mucopolysaccharidosis Type VI (Maroteaux-Lamy Syndrome)Aneesh Karir, Michael Geraghty, Michael Vassilyadi, et al.
Optics Express|November 14, 2024
Raman amplifier based on stimulated Raman scattering in a methane-filled hollow core fiberShawn Hampton, Michael Geraghty, Joseph R Chavez, et al.
Research and Reports in Urology|April 18, 2023
Innovations in Kidney Stone RemovalLazaros Tzelves, Robert Michael Geraghty, Thomas Hughes, et al.
JIMD Reports|June 27, 2019
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome in pregnancy: Considerations for management and review of the literatureBernice Ho, Jennifer MacKenzie, Jagdeep Walia, et al.
BMC Pediatrics|November 19, 2010
The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontarioShelley Kennedy, Beth K Potter, Kumanan Wilson, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 3, 2024
IRF2BPL-Related Disorder, Causing Neurodevelopmental Disorder with Regression, Abnormal Movements, Loss of Speech and Seizures (NEDAMSS) Is Characterized by Pathology Consistent with DRPLASunita Venkateswaran, Jean Michaud, Yoko Ito, et al.
JIMD Reports|January 19, 2026
Biochemical, Clinical, and Functional Characterization of a Rare c.-106C>A Promoter Region Variant in Late-Onset Ornithine Transcarbamylase Deficiency: A Multifamily Case SeriesSamuel Quinn Tholl, Wendy McCaul, Anthony Rupar, et al.
Brain : a Journal of Neurology|February 5, 2013
A novel syndrome caused by the E410K amino acid substitution in the neuronal β-tubulin isotype 3Sheena Chew, Ravikumar Balasubramanian, Wai-Man Chan, et al.
CMAJ : Canadian Medical Association Journal = Journal De L'Association Medicale Canadienne|June 1, 2016
Next-generation sequencing for diagnosis of rare diseases in the neonatal intensive care unitHussein Daoud, Stephanie M Luco, Rui Li, et al.
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