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3 results on '"Rathbun PA"'

1. Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center.

Author

Du X, Glass JE, Balow S, Dyer LM, Rathbun PA, Guan Q, Liu J, Wu Y, Dawson DB, Walters-Sen L, Smolarek TA, and Zhang W

Subjects
Child, DNA Copy Number Variations, Female, Fragile X Mental Retardation Protein genetics, Genetic Testing, Hospitals, Humans, Male, Mutation, Retrospective Studies, Trinucleotide Repeat Expansion, Autism Spectrum Disorder diagnosis, Fragile X Syndrome diagnosis, Fragile X Syndrome genetics, Neurodevelopmental Disorders diagnosis, Neurodevelopmental Disorders genetics
Abstract

Our institution developed and continuously improved a Neurodevelopmental Reflex (NDR) algorithm to help physicians with genetic test ordering for neurodevelopmental disorders (NDDs). To assess its performance, we performed a retrospective study of 511 patients tested through NDR from 2018 to 2019. SNP Microarray identified pathogenic/likely pathogenic copy number variations in 27/511 cases (5.28%). Among the 484 patients tested for Fragile X FMR1 CGG repeats, a diagnosis (0.20%) was established for one male mosaic for a full mutation, a premutation, and a one-CGG allele. Within the 101 normocephalic female patients tested for MECP2, two patients were found to carry pathogenic variants (1.98%). This retrospective study suggested the NDR algorithm effectively established diagnoses for patients with NDDs with a yield of 5.87%., (© 2021. The Author(s).)

Published
2022
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2. The Value of Chromosome Analysis to Interrogate Variants in DNMT3B Causing Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome Type I (ICF1).

Author

Kellner ES, Rathbun PA, Marshall GS, Tolusso LK, Smolarek TA, Sun M, Chandra S, Bleesing J, and Marsh RA

Subjects
DNA Methylation, Female, Heterozygote, Humans, Infant, Mutation, Missense, Primary Immunodeficiency Diseases genetics, Primary Immunodeficiency Diseases immunology, Transmembrane Activator and CAML Interactor Protein genetics, DNA Methyltransferase 3B, Chromosome Aberrations, DNA (Cytosine-5-)-Methyltransferases genetics, Face abnormalities, Genetic Testing methods, Karyotyping, Primary Immunodeficiency Diseases diagnosis
Published
2019
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3. Neonatal Lung Disease Associated with TBX4 Mutations.

Author

Suhrie K, Pajor NM, Ahlfeld SK, Dawson DB, Dufendach KR, Kitzmiller JA, Leino D, Lombardo RC, Smolarek TA, Rathbun PA, Whitsett JA, Towe C, and Wikenheiser-Brokamp KA

Subjects
Female, Humans, Infant, Newborn, Male, Mutation genetics, Respiratory Insufficiency genetics, Respiratory Insufficiency pathology, T-Box Domain Proteins genetics
Abstract

Variable lung disease was documented in 2 infants with heterozygous TBX4 mutations; their clinical presentations, pathology, and outcomes were distinct. These findings demonstrate that TBX4 gene mutations are associated with neonatal respiratory failure and highlight the wide spectrum of clinicopathological outcomes that have implications for patient diagnosis and management., (Copyright © 2018 Elsevier Inc. All rights reserved.)

Published
2019
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