Matthew B. Neu
Medical Genetics | Pediatrics
500 Pasteur Dr
Fl 3
Palo Alto, CA 94304
Fl 3
Palo Alto, CA 94304
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications
De Novo Variants Associated With Autosomal Recessive Conditions: Case Series and Implications for Genetic Testing and Counseling.
Journal: American journal of medical genetics. Part A
Published: February 12, 2026
Biochemical testing and pathology reveal rare cause of pediatric acute liver failure: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Journal: JPGN reports
Published: September 30, 2025
Urine organic acid analysis as a tool in evaluation for Zellweger Spectrum disorder: A retrospective study.
Journal: Molecular genetics and metabolism
Published: June 25, 2025
Parents' Perspectives on the Utility of Genomic Sequencing in the Neonatal Intensive Care Unit.
Journal: Journal of personalized medicine
Published: May 18, 2023
Genome sequencing as a first-line diagnostic test for hospitalized infants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: September 08, 2021
Clinical utility of genomic sequencing.
Journal: Current opinion in pediatrics
Published: November 07, 2019
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
Journal: PLoS genetics
Published: June 27, 2018
Systematic reanalysis of genomic data improves quality of variant interpretation.
Journal: Clinical genetics
Published: November 17, 2017
Genomic sequencing identifies secondary findings in a cohort of parent study participants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: August 31, 2017
CUILESS2016: a clinical corpus applying compositional normalization of text mentions.
Journal: Journal of biomedical semantics
Published: April 10, 2017
Showing 1-10 of 10
Last Updated: 09/26/2026