Natalie S Hauser

6PUBLICATIONS
65CO-AUTHORS
NeurogeneticsGene expression (incl. microarray and other genome-wide approaches)Gene mappingMedical infection agents (incl. prions)Developmental genetics (incl. sex determination)
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Publications (6)

|Aug 06, 2026
Equivalent gain-of-function variants in KCNK3 and KCNK9 and their contribution to distinct TASK K2P channelopathies.

|Aug 26, 2021
Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.

Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere

|Mar 30, 2021
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.

Sarah E Sheppard, Ian M Campbell, Margaret H Harr

|Aug 30, 2019
The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.

Nandaki Keshavan, Jose Abdenur, Glenn Anderson

|Mar 28, 2019
A case study of atypical Larsen syndrome with absent hallmark joint dislocations.

Neslida Kodra, Callie Diamonstein, Natalie S Hauser

|Jan 26, 2018
Experience with genomic sequencing in pediatric patients with congenital cardiac defects in a large community hospital.

Natalie S Hauser, Benjamin D Solomon, Thierry Vilboux

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Frequent Collaborators

2 joint publications

Katherine Bergstrom

2 joint publications

Fowzan S Alkuraya

1 joint publications

Nandaki Keshavan

1 joint publications

Jose Abdenur