Last Updated: 09/26/2026
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Found 18 publications
Development and validity evidence of a knowledge assessment in genomics sequencing report interpretation for non-geneticist medical trainees.
Journal: BMC medical education
Published: April 16, 2026
Monogenic Etiologies of Kidney Cysts in the Pediatric Population: An Observational Cohort Study.
Journal: Clinical journal of the American Society of Nephrology : CJASN
Published: November 12, 2025
Comparative Analysis of Familial Versus Infectious Neonatal Hemophagocytic Lymphohistiocytosis.
Journal: Journal of pediatric hematology/oncology
Published: August 05, 2025
A multicenter descriptive study of neonatal-onset urea cycle disorder patients hospitalized in level IV NICUs.
Journal: Journal of perinatology : official journal of the California Perinatal Association
Published: June 24, 2025
X-Linked Lymphoproliferative Disease Associated Hemophagocytic Lymphohistiocytosis Diagnosed Expeditiously With Ultra-Rapid Whole-Genome Sequencing.
Journal: Pediatric blood & cancer
Published: October 31, 2024
Functional Analysis of a De Novo Monoallelic NEK8 Variant Supports Pathogenicity for a Polycystic Kidney Disease Phenotype.
Journal: Kidney international reports
Published: September 02, 2024
Assessment of Aminoglycoside-Induced Hearing Loss Risk in the Perinatal Period.
Journal: American journal of perinatology
Published: July 15, 2024
A Practical Guide to Whole Genome Sequencing in the NICU.
Journal: NeoReviews
Published: March 01, 2024
Neonatal hemophagocytic lymphohistiocytosis: A meta-analysis of 205 cases.
Journal: Pediatric blood & cancer
Published: November 27, 2023
State of the Science and Ethical Considerations for Preimplantation Genetic Testing for Monogenic Cystic Kidney Diseases and Ciliopathies.
Journal: Journal of the American Society of Nephrology : JASN
Published: August 19, 2023
Risk reduction for small cell cancer of the ovary, hypercalcemic type in prepubertal patient: A clinical and bioethical perspective.
Journal: Gynecologic oncology reports
Published: July 12, 2023
Nasopharyngeal Swabs in Pediatric Patients With Thrombocytopenia and Anticoagulant Use.
Journal: Journal of pediatric hematology/oncology
Published: March 23, 2023
Last Updated: 09/26/2026