Natalie S Hauser
5PUBLICATIONS
42CO-AUTHORS
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Publications (5)
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|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Expanding the phenotype of ASXL3-related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in ASXL3.Schaida Schirwani, Shadi Albaba, Deanna Alexis Carere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
1 joint publications
Anupam Chakrapani
1 joint publications
Marta C Cohen
1 joint publications
François Feillet
1 joint publications
Carl Fratter
1 joint publications
Neslida Kodra
1 joint publications
Mariella Simon
