Kristin G. Monaghan

Medical Genetics

2799 W Grand Blvd
Cfp 4
Detroit, MI 48202

Last Updated: 09/26/2026

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Found 107 publications

Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.

Heterozygous RNF13 Truncating Variants Are Associated With Developmental and Epileptic Encephalopathy.

Journal: American journal of medical genetics. Part A

Published: April 29, 2026

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects.

Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects.

Journal: American journal of medical genetics. Part A

Published: October 14, 2025

Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomes.

Multiscore, a gene ranker powered by artificial intelligence and real-world clinical data, shows high sensitivity for the molecular diagnosis of Mendelian disorders in nearly 10,000 exomes and genomes.

Journal: Human genetics

Published: March 26, 2025

Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation.

Homozygous variants in EIF3K associated with neurodevelopmental delay, microcephaly, and growth retardation.

Journal: HGG advances

Published: February 10, 2025

Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.

Feasibility and clinical utility of expanded genomic newborn screening in the Early Check program.

Journal: Nature medicine

Published: January 28, 2025

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.

Pathogenic XPO1 variants cause a dominant neurodevelopmental disorder.

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

Published: January 13, 2025

Brain malformations and seizures by impaired chaperonin function of TRiC.

Brain malformations and seizures by impaired chaperonin function of TRiC.

Journal: Science (New York, N.Y.)

Published: October 31, 2024

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.

Expanded Newborn Screening Using Genome Sequencing for Early Actionable Conditions.

Journal: JAMA

Published: October 24, 2024

MGA-related syndrome: A proposed novel disorder.

MGA-related syndrome: A proposed novel disorder.

Journal: HGG advances

Published: October 02, 2024

De novo missense variants in the RPEL3 domain of PHACTR4 in individuals with overlapping congenital anomalies.

De novo missense variants in the RPEL3 domain of PHACTR4 in individuals with overlapping congenital anomalies.

Journal: HGG advances

Published: October 01, 2024

Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.

Sequence variants in HECTD1 result in a variable neurodevelopmental disorder.

Journal: American journal of human genetics

Published: June 20, 2024

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.

Journal: Nature genetics

Published: June 16, 2024

Showing 1-12 of 107

Last Updated: 09/26/2026