Rebecca Mardach

Medical Genetics | Pediatrics

4700 W Sunset Blvd
First Floor
Los Angeles, CA 90027

Last Updated: 09/26/2026

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Found 11 publications

Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial.

Genome-based newborn screening for severe childhood genetic diseases has high positive predictive value and sensitivity in a NICU pilot trial.

Journal: American journal of human genetics

Published: August 07, 2024

Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.

Prequalification of genome-based newborn screening for severe childhood genetic diseases through federated training based on purifying hyperselection.

Journal: American journal of human genetics

Published: June 11, 2024

Response to Grosse et al.

Response to Grosse et al.

Journal: American journal of human genetics

Published: June 02, 2023

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.

A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.

Journal: American journal of human genetics

Published: May 25, 2022

Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literature.

Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literature.

Journal: Cold Spring Harbor molecular case studies

Published: December 17, 2021

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.

An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.

Journal: Nature communications

Published: May 13, 2021

Expanding the genotypic spectrum of ACTG2-related visceral myopathy.

Expanding the genotypic spectrum of ACTG2-related visceral myopathy.

Journal: Cold Spring Harbor molecular case studies

Published: January 11, 2021

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

Journal: American journal of medical genetics. Part A

Published: September 28, 2020

Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?

Is it time to retire fragile X testing as a first-tier test for developmental delay, intellectual disability, and autism spectrum disorder?

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: September 22, 2017

Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase.

Long-term velaglucerase alfa treatment in children with Gaucher disease type 1 naïve to enzyme replacement therapy or previously treated with imiglucerase.

Journal: Molecular genetics and metabolism

Published: March 10, 2015

Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.

Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase.

Journal: American journal of hematology

Published: October 30, 2012

Showing 1-11 of 11

Last Updated: 09/26/2026