Christina M. Sloan-Heggen

Medical Genetics | Pediatrics

1540 E Hospital Dr
Floor 6 Reception C
Ann Arbor, MI 48109

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 12 publications

Variants in KLF4 affecting residue Asp441 cause an autosomal dominant syndromic ichthyosis.

Variants in KLF4 affecting residue Asp441 cause an autosomal dominant syndromic ichthyosis.

Journal: The British journal of dermatology

Published: December 01, 2024

An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant.

An atypically mild case of ethylmalonic encephalopathy with pathogenic ETHE1 variant.

Journal: American journal of medical genetics. Part A

Published: January 09, 2023

Trainee perspectives of COVID-19 impact on medical genetics education.

Trainee perspectives of COVID-19 impact on medical genetics education.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 30, 2020

Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss.

Is it Usher syndrome? Collaborative diagnosis and molecular genetics of patients with visual impairment and hearing loss.

Journal: Ophthalmic genetics

Published: April 14, 2020

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

Genomic Landscape and Mutational Signatures of Deafness-Associated Genes.

Journal: American journal of human genetics

Published: May 12, 2018

Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance.

Genetic variants in the peripheral auditory system significantly affect adult cochlear implant performance.

Journal: Hearing research

Published: December 18, 2016

Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.

Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.

Journal: Archives of Iranian medicine

Published: October 16, 2016

Navigating genetic diagnostics in patients with hearing loss.

Navigating genetic diagnostics in patients with hearing loss.

Journal: Current opinion in pediatrics

Published: August 24, 2016

Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.

Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.

Journal: The Annals of otology, rhinology, and laryngology

Published: July 30, 2016

Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.

Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.

Journal: Clinical genetics

Published: February 05, 2016

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.

Journal: Human genetics

Published: December 16, 2015

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.

Characterising the spectrum of autosomal recessive hereditary hearing loss in Iran.

Journal: Journal of medical genetics

Published: July 14, 2015

Showing 1-12 of 12

Last Updated: 09/26/2026