Leigh A. Flore

Medical Genetics | Pediatrics

Detroit, MI 48201

Last Updated: 09/26/2026

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Found 11 publications

An Evaluation of the Impact of Genetic Counseling on Adherence to the 2011 American Academy of Pediatrics Health Supervision Guidelines for Children With Down Syndrome.

An Evaluation of the Impact of Genetic Counseling on Adherence to the 2011 American Academy of Pediatrics Health Supervision Guidelines for Children With Down Syndrome.

Journal: American journal of medical genetics. Part A

Published: October 24, 2024

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.

Journal: Brain : a journal of neurology

Published: October 26, 2023

Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.

Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin.

Journal: Molecular genetics and metabolism

Published: April 04, 2023

Intracranial Germinoma in Two Caucasian American Siblings With Autism Spectrum Disorder.

Intracranial Germinoma in Two Caucasian American Siblings With Autism Spectrum Disorder.

Journal: Journal of pediatric hematology/oncology

Published: March 06, 2023

Distinctive phenotypes in two children with novel germline RUNX1 mutations - one with myeloid malignancy and increased fetal hemoglobin.

Distinctive phenotypes in two children with novel germline RUNX1 mutations - one with myeloid malignancy and increased fetal hemoglobin.

Journal: Pediatric hematology and oncology

Published: September 29, 2020

Familial neonatal nonautoimmune hyperthyroidism due to a gain-of-function (D619G) thyrotropin-receptor mutation.

Familial neonatal nonautoimmune hyperthyroidism due to a gain-of-function (D619G) thyrotropin-receptor mutation.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: May 23, 2020

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.

A relatively common homozygous TRAPPC4 splicing variant is associated with an early-infantile neurodegenerative syndrome.

Journal: European journal of human genetics : EJHG

Published: May 10, 2020

MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.

MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.

Journal: Human mutation

Published: October 24, 2017

Updates in the genetic evaluation of the child with global developmental delay or intellectual disability.

Updates in the genetic evaluation of the child with global developmental delay or intellectual disability.

Journal: Seminars in pediatric neurology

Published: December 19, 2012

Mitochondrial encoded NADH dehydrogenase 5 (MT-ND5) gene point mutation presents as late onset cardiomyopathy.

Mitochondrial encoded NADH dehydrogenase 5 (MT-ND5) gene point mutation presents as late onset cardiomyopathy.

Journal: International journal of cardiology

Published: December 04, 2012

RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation.

RASA1 analysis guides management in a family with capillary malformation-arteriovenous malformation.

Journal: Journal of pediatric genetics

Published: June 01, 2012

Showing 1-11 of 11

Last Updated: 09/26/2026