Publications by authors named "Jeremy L. Freeman"

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Development and Adaptive Function in Individuals With -Related Disorders.
Beatrice Southby Goad, Jill Rodda, Meagan Allen, Daniel Bamborschke, Isabella Overmars, Jeremy L Freeman

Neurology· August 2025

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Anaplastic Thyroid Carcinoma: A Contemporary Review of Challenges and Advances.
Amanda Silver Karcioglu, Cristian Slough, Symone V Jordan, Taylor D Brown, Mac Kenzie J Reece, Jeremy L Freeman

Endocr Pract· August 2025

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Multiple cranial neuropathies in an adolescent with myelin-oligodendrocyte glycoprotein antibody-associated disease.
Rebecca Leung, Cristina Mignone, Andrew J Kornberg, Jeremy L Freeman, Eppie M Yiu

J Paediatr Child Health· November 2023

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Facilitation of Definitive Cancer Diagnosis With Quantitative Molecular Assays of BRAF V600E and TERT Promoter Variants in Patients With Thyroid Nodules.
Guodong Fu, Ronald S Chazen, Eric Monteiro, Allan Vescan, Jeremy L Freeman

JAMA Netw Open· July 2023

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A cryptic pathogenic NDUFV1 variant identified by RNA-seq in a patient with normal complex I activity in muscle and transient magnetic resonance imaging changes.
Sharmila Kiss, John Christodoulou, David R Thorburn, Jeremy L Freeman, Andrew J Kornberg

Am J Med Genet A· June 2023

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Mosaic variants detectable in blood extend the clinicogenetic spectrum of -related hypothalamic hamartoma.
Timothy E Green, Mark F Bennett, Ilka Immisch, Jeremy L Freeman, Karl Martin Klein

Genet Med Open· April 2023

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Preferences of parents for mental health services to suit children with chronic medical conditions.
Jemimah Ride, Lachlan Cameron, Renee Jones, Kim Dalziel, Danielle Wurzel, Jeremy L Freeman

Aust Health Rev· December 2022

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Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
Dianalee McKnight, Ana Morales, Kathryn E Hatchell, Sara L Bristow, Joshua L Bonkowsky, Jeremy L Freeman

JAMA Neurol· December 2022

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Sporadic hypothalamic hamartoma is a ciliopathy with somatic and bi-allelic contributions.
Timothy E Green, Joshua E Motelow, Mark F Bennett, Zimeng Ye, Caitlin A Bennett, Jeremy L Freeman

Hum Mol Genet· July 2022

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Feasibility and Safety of Outpatient Thyroidectomy: A Narrative Scoping Review.
Justine Philteos, Elif Baran, Christopher W Noel, Jesse D Pasternak, Kevin M Higgins, Jeremy L Freeman

Front Endocrinol (Lausanne)· February 2022

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Mental healthcare for children with chronic conditions: a qualitative study.
Renee Jones, Harriet Hiscock, Danielle Wurzel, Kung-Ting Kao, Jeremy L Freeman

Arch Dis Child· February 2022

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An unexpected disease course for a patient with diffuse midline glioma.
Vajiranee S Malalasekera, Colleen E D'Arcy, Cristina Mignone, Alison C Wray, Javad Nazarian, Jeremy L Freeman

Pediatr Blood Cancer· October 2021

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Risk of Fractures and Other Injuries in Children Treated with Antiseizure Medications for Epilepsy.
Sunita M Kumar, Peter J Simm, Manikkuwadura De Silva L, Alexandra Gorelik, Jeremy L Freeman

Calcif Tissue Int· August 2021

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One-Stage, Limited-Resection Epilepsy Surgery for Bottom-of-Sulcus Dysplasia.
Emma Macdonald-Laurs, Wirginia J Maixner, Catherine A Bailey, Sarah M Barton, Simone A Mandelstam, Jeremy L Freeman

Neurology· July 2021

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Diagnostic Value of Galectin-3 in Distinguishing Invasive Encapsulated Carcinoma from Noninvasive Follicular Thyroid Neoplasms with Papillary-Like Nuclear Features (NIFTP).
Guodong Fu, Olena Polyakova, Ronald S Chazen, Jeremy L Freeman, Ian J Witterick

Cancers (Basel)· June 2021

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A pilot randomised placebo-controlled trial of cannabidiol to reduce severe behavioural problems in children and adolescents with intellectual disability.
Daryl Efron, Jeremy L Freeman, Noel Cranswick, Jonathan M Payne, Melissa Mulraney

Br J Clin Pharmacol· February 2021

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The severe epilepsy syndromes of infancy: A population-based study.
Katherine B Howell, Jeremy L Freeman, Mark T Mackay, Michael C Fahey, John Archer

Epilepsia· February 2021

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Outpatient versus inpatient superficial parotidectomy: clinical and pathological characteristics.
Daniel J Lee, David Forner, Christopher End, Christopher M K L Yao, Shireen Samargandy, Jeremy L Freeman

J Otolaryngol Head Neck Surg· February 2021

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Protocol for a single patient therapy plan: A randomised, double-blind, placebo-controlled N-of-1 trial to assess the efficacy of cannabidiol in patients with intractable epilepsy.
Katherine S Ong, John B Carlin, Michael Fahey, Jeremy L Freeman, Ingrid E Scheffer

J Paediatr Child Health· December 2020

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Developmental and epilepsy spectrum of KCNB1 encephalopathy with long-term outcome.
Claire Bar, Mathieu Kuchenbuch, Giulia Barcia, Amy Schneider, Mélanie Jennesson, Jeremy L Freeman

Epilepsia· November 2020

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Clinical application of the PedsQL Epilepsy Module (PedsQL-EM) in an ambulatory pediatric epilepsy setting.
Danielle Hulse, A Simon Harvey, Jeremy L Freeman, Mark T Mackay, Gabriel Dabscheck

Epilepsy Behav· May 2020

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Bi-allelic LoF NRROS Variants Impairing Active TGF-β1 Delivery Cause a Severe Infantile-Onset Neurodegenerative Condition with Intracranial Calcification.
Xiaomin Dong, Natalie B Tan, Katherine B Howell, Sabina Barresi, Jeremy L Freeman

Am J Hum Genet· April 2020

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Surgical Management of Thyroid Nodular Disease-Personal Evolution Throughout 4 Decades of Practice.
Jeremy L Freeman

JAMA Otolaryngol Head Neck Surg· March 2020

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Does cannabidiol reduce severe behavioural problems in children with intellectual disability? Study protocol for a pilot single-site phase I/II randomised placebo controlled trial.
Daryl Efron, Kaitlyn Taylor, Jonathan M Payne, Jeremy L Freeman, Noel Cranswick

BMJ Open· March 2020

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Hyperinsulinaemic hypoglycaemia: A rare association of vanishing white matter disease.
Carolyn Bursle, Eppie M Yiu, Alison Yeung, Jeremy L Freeman, Chloe Stutterd

JIMD Rep· January 2020

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