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Neonatal Lung Disease Associated with TBX4 Mutations
The Journal of pediatrics, 2019-03, Vol.206, p.286-292.e1
2019
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Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center
Journal of autism and developmental disorders, 2022-11, Vol.52 (11), p.4828-4842
2022
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The Value of Chromosome Analysis to Interrogate Variants in DNMT3B Causing Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome Type I (ICF1)
Journal of clinical immunology, 2019-11, Vol.39 (8), p.857-859
2019
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The Value of Chromosome Analysis to Interrogate Variants in DNMT3B Causing Immunodeficiency, Centromeric Instability, and Facial Anomaly Syndrome Type I (ICF1)
Journal of clinical immunology, 2019, Vol.39 (8), p.857-859
2019
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Homozygosity for disease‐causing variants in AMT and GLDC in a patient with severe nonketotic hyperglycinemia
American journal of medical genetics. Part A, 2024-08, Vol.194 (8), p.e63622-n/a
2024
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OP034: Evaluation of the 2019 ACMG-ClinGen guidelines for interpretation of copy-number variants with borderline classifications at an academic clinical diagnostics laboratory
Genetics in medicine, 2022-03, Vol.24 (3), p.S362-S362
2022
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eP363: A review of characteristic features identifying balanced chromosomal translocations with increased potential for 3:1 meiotic segregation
Genetics in medicine, 2022-03, Vol.24 (3), p.S228-S229
2022
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Expansion of the phenotypic spectrum associated with pathogenic missense variation in DHX16
American journal of medical genetics. Part A, 2024-01, Vol.194 (1), p.53-58
2024
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Utility and Outcomes of the 2019 American College of Medical Genetics and Genomics–Clinical Genome Resource Guidelines for Interpretation of Copy Number Variants with Borderline Classifications at an Academic Clinical Diagnostic Laboratory
The Journal of molecular diagnostics : JMD, 2022-10, Vol.24 (10), p.1100-1111
2022
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Detection of a cryptic inverted duplication in the RAB27A 5’UTR following non-diagnostic WES in two cases of atypical Griscelli syndrome
Molecular genetics and metabolism, 2021-04, Vol.132, p.S278
2021
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eP431 - Detection of a cryptic inverted duplication in the RAB27A 5’UTR following non-diagnostic WES in two cases of atypical Griscelli syndrome
Molecular genetics and metabolism, 2021-04, Vol.132, p.S278-S278
2021
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P454: Investigating the efficacy of targeted NGS panels with rapid TAT for pediatric patients with narrow differential diagnoses
Genetics in Medicine Open, 2023, Vol.1 (1), p.100501, Article 100501
2023
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P591: Assessing the performance of automated HPO term extraction for deep phenotyping of patients receiving WES/WGS in a clinical diagnostic laboratory
Genetics in Medicine Open, 2023, Vol.1 (1), p.100638, Article 100638
2023
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ROS1 alterations as a potential driver of gliomas in infant, pediatric, and adult patients
Modern pathology, 2023-11, Vol.36 (11), p.100294-100294, Article 100294
2023
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1. Clinicopathologic analysis of gliomas harboring ROS1 gene arrangements
Cancer genetics, 2022-01, Vol.260-261, p.1-1
2022
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Period Changes of RR Lyrae Stars in Seven Globular Clusters
Publications of the Astronomical Society of the Pacific, 1997-10, Vol.109 (740), p.1128-1134
1997
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Solar Convection: Comparison of Numerical Simulations and Mixing-Length Theory
The Astrophysical journal, 1997-05, Vol.480 (1), p.395-399
1997
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Three dimensional comparison of blocked arcs vs. four and six field conformal treatment of the prostate
Radiotherapy and oncology, 1996-10, Vol.41 (1), p.83-88
1996
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Migration consequences for household energy consumption in a nonmetropolitan recreation-retirement area
Rural sociology, 1991-04, Vol.56 (1), p.56-69
1991
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Migration Consequences for Household Energy Consumption in a Nonmetropolitan Recreation‐Retirement Area1
Rural sociology, 1991-03, Vol.56 (1), p.56-69
1991
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Migration Consequences for Household Energy Consumption in a Nonmetropolitan Recreation‐Retirement Area 1
Rural sociology, 1991-03, Vol.56 (1), p.56-69
1991
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Migration and Household Energy Consumption in Vilas and Oneida Counties
Rural Sociological Society, 1985
1985
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