Samuel J. Huang
Medical Genetics | Pediatrics
1000 N Oak Ave
Marshfield, WI 54449
Marshfield, WI 54449
Last Updated: 09/26/2026
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Found 8 publications
RNF2 Missense Variants Disrupt Polycomb Repression and Enable Ectopic Mesenchymal Lineage Conversion During Human Neural Differentiation.
Journal: Research square
Published: August 20, 2025
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts.
Journal: Rare (Amsterdam, Netherlands)
Published: October 18, 2024
Points to consider for providing expert witness testimony for the specialty of medical genetics: A statement of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 23, 2024
The designated record set for clinical genetic and genomic testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG).
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: November 14, 2022
An 18-month-old Girl with a Fleshy Mass in the Ear Canal.
Journal: Pediatrics in review
Published: January 02, 2021
SVEP1 as a Genetic Modifier of TEK-Related Primary Congenital Glaucoma.
Journal: Investigative ophthalmology & visual science
Published: October 07, 2020
Porencephaly and Intracranial Calcifications in a Neonate.
Journal: Pediatrics in review
Published: October 02, 2020
Exome Sequence Analysis of 14 Families With High Myopia.
Journal: Investigative ophthalmology & visual science
Published: April 07, 2017
Showing 1-8 of 8
Last Updated: 09/26/2026