NICHOLE OWEN to Humans
This is a "connection" page, showing publications NICHOLE OWEN has written about Humans.
Connection Strength
0.055
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De Novo Chromosomes 3q and 5q Chromothripsis Leads to a 5q14.3 Microdeletion Syndrome Presentation: Case Report and Review of the Literature. Am J Med Genet A. 2025 Jun; 197(6):e63975.
Score: 0.007
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Detection of Clinically Relevant Monogenic Copy-Number Variants by a Comprehensive Genome-Wide Microarray with Exonic Coverage. Clin Chem. 2025 Jan 03; 71(1):141-154.
Score: 0.007
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Brain abscesses, neutropenia, and B-ALL: Multiple testing modalities required to confirm PDCD10 and ETV6 dual diagnoses. Cancer Genet. 2024 Nov; 288-289:5-9.
Score: 0.006
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Secondary ACMG and non-ACMG genetic findings in a multiethnic cohort of 16,713 pediatric participants. Genet Med. 2024 Nov; 26(11):101225.
Score: 0.006
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Improving access to exome sequencing in a medically underserved population through the Texome Project. Genet Med. 2024 06; 26(6):101102.
Score: 0.006
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Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing loss. Mol Genet Genomic Med. 2024 Feb; 12(2):e2404.
Score: 0.006
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Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population. Mol Genet Genomic Med. 2023 Dec; 11(12):e2272.
Score: 0.006
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Phenotypic Variability of SOCS1 Haploinsufficiency. J Clin Immunol. 2023 07; 43(5):902-906.
Score: 0.006
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Expansion of the clinical phenotype of GALE deficiency. Am J Med Genet A. 2021 10; 185(10):3118-3121.
Score: 0.005