Antonie D. Kline

Antonie D. Kline

Medical Genetics

22 South Greene Street
Baltimore, MD 21201

Last Updated: 09/26/2026

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Found 46 publications

Case Report: An exploration of the neurodevelopmental phenotype of five patients with 48,XXYY during early childhood years.

Case Report: An exploration of the neurodevelopmental phenotype of five patients with 48,XXYY during early childhood years.

Journal: Frontiers in endocrinology

Published: August 19, 2025

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome.

Journal: American journal of human genetics

Published: August 08, 2025

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Mutations in the Key Autophagy Tethering Factor EPG5 Link Neurodevelopmental and Neurodegenerative Disorders Including Early-Onset Parkinsonism.

Journal: Annals of neurology

Published: March 04, 2025

Clinical Severity Score as a Prognostic Indicator of Communicative Functioning in Cornelia de Lange Syndrome.

Clinical Severity Score as a Prognostic Indicator of Communicative Functioning in Cornelia de Lange Syndrome.

Journal: American journal of medical genetics. Part A

Published: December 26, 2024

Ophthalmic findings in Alström syndrome.

Ophthalmic findings in Alström syndrome.

Journal: Ophthalmic genetics

Published: September 12, 2024

Expanding the Phenotypic Spectrum of HNRNPU-Related Disorder, Documenting the First Familial Presentation and Comprehensive Review.

Expanding the Phenotypic Spectrum of HNRNPU-Related Disorder, Documenting the First Familial Presentation and Comprehensive Review.

Journal: American journal of medical genetics. Part A

Published: September 02, 2024

Sleep correlates of behavior functioning in Cornelia de Lange syndrome.

Sleep correlates of behavior functioning in Cornelia de Lange syndrome.

Journal: American journal of medical genetics. Part A

Published: December 29, 2023

Neurobehavioral and developmental profiles: genotype-phenotype correlations in individuals with Cornelia de Lange syndrome.

Neurobehavioral and developmental profiles: genotype-phenotype correlations in individuals with Cornelia de Lange syndrome.

Journal: Orphanet journal of rare diseases

Published: August 16, 2023

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

Journal: American journal of medical genetics. Part A

Published: March 23, 2023

Pediatric joint hypermobility: a diagnostic framework and narrative review.

Pediatric joint hypermobility: a diagnostic framework and narrative review.

Journal: Orphanet journal of rare diseases

Published: February 21, 2023

Agreement between parent-proxy and child self-report in pediatric hypermobile Ehlers-Danlos syndrome.

Agreement between parent-proxy and child self-report in pediatric hypermobile Ehlers-Danlos syndrome.

Journal: Journal of child health care : for professionals working with children in the hospital and community

Published: September 21, 2022

Cornelia de Lange syndrome and cancer: An open question.

Cornelia de Lange syndrome and cancer: An open question.

Journal: American journal of medical genetics. Part A

Published: June 22, 2022

Showing 1-12 of 46

Last Updated: 09/26/2026