Natalie S. Hauser

Natalie S. Hauser

Medical Genetics | Pediatrics

8081 Innovation Park Dr
900
Fairfax, VA 22031

Last Updated: 09/26/2026

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Found 42 publications

Sudden Cardiac Arrest and Takotsubo-Like Cardiomyopathy as the Initial Presentation of Primary Carnitine Deficiency.

Sudden Cardiac Arrest and Takotsubo-Like Cardiomyopathy as the Initial Presentation of Primary Carnitine Deficiency.

Journal: JACC. Case reports

Published: March 17, 2026

Equivalent gain-of-function variants in KCNK3 and KCNK9 and their contribution to distinct TASK K2P channelopathies.

Equivalent gain-of-function variants in KCNK3 and KCNK9 and their contribution to distinct TASK K2P channelopathies.

Journal: The Journal of general physiology

Published: February 27, 2026

Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.

Discovery of a DNA methylation profile in individuals with Sifrim-Hitz-Weiss syndrome.

Journal: American journal of human genetics

Published: August 14, 2024

Subtotal Resection with Proton-Beam Radiotherapy for Treatment of Pineal Parenchymal Tumor of Intermediate Differentiation in a Pediatric Patient.

Subtotal Resection with Proton-Beam Radiotherapy for Treatment of Pineal Parenchymal Tumor of Intermediate Differentiation in a Pediatric Patient.

Journal: Pediatric neurosurgery

Published: May 28, 2024

Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder.

Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder.

Journal: American journal of human genetics

Published: November 20, 2023

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.

MSL2 variants lead to a neurodevelopmental syndrome with lack of coordination, epilepsy, specific dysmorphisms, and a distinct episignature.

Journal: American journal of human genetics

Published: September 23, 2023

A Rare Diagnosis Masquerading as Sepsis in a Young Infant.

A Rare Diagnosis Masquerading as Sepsis in a Young Infant.

Journal: Clinical pediatrics

Published: July 31, 2023

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice.

Journal: Science advances

Published: March 10, 2023

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability.

Journal: HGG advances

Published: July 13, 2021

Correction to: Pitfalls of clinical exome and gene panel testing: alternative transcripts.

Correction to: Pitfalls of clinical exome and gene panel testing: alternative transcripts.

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

Published: May 04, 2021

Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.

Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.

Journal: American journal of medical genetics. Part A

Published: February 15, 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

Showing 1-12 of 42

Last Updated: 09/26/2026