Mary K. Kukolich

Medical Genetics | Pediatrics
Fort Worth, TX 76102

Last Updated: 09/26/2026

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Found 19 publications

Case Reviews for Two Families With Unique Variants in TBX22 Causing Abruzzo-Erickson Syndrome.

Case Reviews for Two Families With Unique Variants in TBX22 Causing Abruzzo-Erickson Syndrome.

Journal: American journal of medical genetics. Part A
Published: April 22, 2025

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Journal: medRxiv : the preprint server for health sciences
Published: January 31, 2024

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles.

Journal: Genome medicine
Published: December 12, 2023

Expanding the phenotypic spectrum of ARCN1-related syndrome.

Expanding the phenotypic spectrum of ARCN1-related syndrome.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 10, 2021

Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome.

Missense substitutions at a conserved 14-3-3 binding site in HDAC4 cause a novel intellectual disability syndrome.

Journal: HGG advances
Published: September 18, 2020

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.

Journal: Genome medicine
Published: September 04, 2020

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.

Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 30, 2020

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Journal: American journal of human genetics
Published: December 28, 2019

Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.

Correction: DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 21, 2019

Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations.

Encephalopathies with KCNC1 variants: genotype-phenotype-functional correlations.

Journal: Annals of clinical and translational neurology
Published: June 01, 2019

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.

DYRK1A-related intellectual disability: a syndrome associated with congenital anomalies of the kidney and urinary tract.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 10, 2019

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Journal: American journal of human genetics
Published: September 08, 2018
Showing 1-12 of 19

Last Updated: 09/26/2026