Suzanne D. Debrosse

Medical Genetics | Pediatrics | Pediatric Neurology

11100 Euclid Ave
Cleveland, OH 44106

Last Updated: 09/26/2026

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Found 25 publications

Chorea in the Elderly: A Differential Diagnosis and Case Report of Late-Onset Huntington's Disease in an Octogenarian.

Chorea in the Elderly: A Differential Diagnosis and Case Report of Late-Onset Huntington's Disease in an Octogenarian.

Journal: Journal of Huntington's disease

Published: December 11, 2023

A Genetics Pearl for Counseling Patients with Epsilon-Sarcoglycan Myoclonus-Dystonia.

A Genetics Pearl for Counseling Patients with Epsilon-Sarcoglycan Myoclonus-Dystonia.

Journal: Tremor and other hyperkinetic movements (New York, N.Y.)

Published: June 12, 2023

Case Report: 2-Year-old With Wilms Tumors, Familial Heterozygous DIS3L2 Mutation, and Cutis Marmorata Telangiectatica Congenita.

Case Report: 2-Year-old With Wilms Tumors, Familial Heterozygous DIS3L2 Mutation, and Cutis Marmorata Telangiectatica Congenita.

Journal: Journal of pediatric hematology/oncology

Published: January 17, 2022

Generalized Dystonia as a Prominent Feature in a Case of NUS1 Gene Mutation.

Generalized Dystonia as a Prominent Feature in a Case of NUS1 Gene Mutation.

Journal: The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques

Published: September 22, 2020

Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.

Utility of specific amino acid ratios in screening for pyruvate dehydrogenase complex deficiencies and other mitochondrial disorders associated with congenital lactic acidosis and newborn screening prospects.

Journal: JIMD reports

Published: May 05, 2020

Kleefstra syndrome: Impact on parents.

Kleefstra syndrome: Impact on parents.

Journal: Disability and health journal

Published: March 21, 2020

The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia.

The expanding phenotype of OFD1-related disorders: Hemizygous loss-of-function variants in three patients with primary ciliary dyskinesia.

Journal: Molecular genetics & genomic medicine

Published: May 05, 2019

A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency.

A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency.

Journal: JIMD reports

Published: March 08, 2019

Inborn Errors of Metabolism with Acidosis: Organic Acidemias and Defects of Pyruvate and Ketone Body Metabolism.

Inborn Errors of Metabolism with Acidosis: Organic Acidemias and Defects of Pyruvate and Ketone Body Metabolism.

Journal: Pediatric clinics of North America

Published: March 06, 2018

Mutations in SCN3A cause early infantile epileptic encephalopathy.

Mutations in SCN3A cause early infantile epileptic encephalopathy.

Journal: Annals of neurology

Published: November 17, 2017

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.

De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects.

Journal: Human molecular genetics

Published: June 13, 2017

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.

GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.

Journal: Annals of neurology

Published: March 10, 2017

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Last Updated: 09/26/2026