Kristen N. Lee

Kristen N. Lee

Medical Genetics | Pediatrics

1540 E Hospital Dr
Floor 2 Reception A
Ann Arbor, MI 48109

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 10 publications

Expanding the phenotypic spectrum of FGF12-epilepsy-does prompt precision therapy affect outcomes?

Expanding the phenotypic spectrum of FGF12-epilepsy-does prompt precision therapy affect outcomes?

Journal: NPJ genomic medicine

Published: December 27, 2025

KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.

KDM2B variants in the CxxC domain impair its DNA-binding ability and cause a distinct neurodevelopmental syndrome.

Journal: Human molecular genetics

Published: April 08, 2025

Trisomy 5p: Long Recognized, Rarely Published- Three New Cases and Review of the Literature.

Trisomy 5p: Long Recognized, Rarely Published- Three New Cases and Review of the Literature.

Journal: American journal of medical genetics. Part A

Published: February 07, 2025

Genetics Evaluation Outcomes From an Academic Multidisciplinary Atypical Diabetes Program.

Genetics Evaluation Outcomes From an Academic Multidisciplinary Atypical Diabetes Program.

Journal: Journal of the Endocrine Society

Published: January 28, 2025

Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity.

Heterozygous CELF4 variants in the N-term region crucial for the RNA-binding activity lead to neurodevelopmental disorder and obesity.

Journal: European journal of human genetics : EJHG

Published: June 20, 2024

Pearls & Oy-sters: Whole-Genome Sequencing in Critically Ill Neurologic Patient Leads to Diagnosis With Treatment Implications.

Pearls & Oy-sters: Whole-Genome Sequencing in Critically Ill Neurologic Patient Leads to Diagnosis With Treatment Implications.

Journal: Neurology

Published: December 09, 2022

The diagnosis of inborn errors of metabolism in previously undiagnosed adults referred for medical genetics evaluation.

The diagnosis of inborn errors of metabolism in previously undiagnosed adults referred for medical genetics evaluation.

Journal: Molecular genetics and metabolism reports

Published: August 13, 2020

Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy.

Homozygous LMNA p.R582H pathogenic variant reveals increasing effect on the severity of fat loss in lipodystrophy.

Journal: Clinical diabetes and endocrinology

Published: December 17, 2019

Infantile onset Pompe disease presenting with non-immune hydrops fetalis.

Infantile onset Pompe disease presenting with non-immune hydrops fetalis.

Journal: Molecular genetics and metabolism reports

Published: August 07, 2019

Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.

Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.

Journal: Pediatric research

Published: March 05, 2019

Showing 1-10 of 10

Last Updated: 09/26/2026