Natasha L Rudy

The Informational and Emotional Support Needs of Grandparents of Children with Pompe Disease

Natasha L Rudy, 2016 .

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Michael T. Zimmermann, Nikita R. Dsouza, S. Antonarakis, 2020, Journal of Medical Genetics.

De novo variants of CSNK2B cause a new intellectual disability-craniodigital syndrome by disrupting the canonical Wnt signaling pathway

Tzung-Chien Hsieh, N. Fleischer, P. Krawitz, 2022, HGG advances.

Activating RAC1 variants in the switch II region cause a developmental syndrome and alter neuronal morphology

I. Krantz, D. Fitzpatrick, S. Banka, 2022, Brain : a journal of neurology.

Constrained chromatin accessibility in PU.1-mutated agammaglobulinemia patients

Ivan K. Chinn, J. Lupski, S. Grant, 2021, The Journal of experimental medicine.

Compound heterozygous variants within two conserved sialyltransferase motifs of ST3GAL5 cause GM3 synthase deficiency

C. Skinner, K. Aoki, M. Tiemeyer, 2022, JIMD Reports.

Genetic testing hearing loss: The challenge of non syndromic mimics.

N. Robin, Richard J. H. Smith, Natasha L Rudy, 2021, International journal of pediatric otorhinolaryngology.

A previously unrecognized 22q13.2 microdeletion syndrome that encompasses TCF20 and TNFRSF13C

F. Mikhail, N. Robin, T. Atkinson, 2018, American journal of medical genetics. Part A.