Shannon Garner

Newborn and carrier screening for spinal muscular atrophy

D. Pearl, R. Pyatt, S. Hashimoto, 2010, American journal of medical genetics. Part A.

De novo missense variant in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy

Maeson S. Latsko, R. Wilson, D. Koboldt, 2022, Cold Spring Harbor molecular case studies.

Microdeletion 9q22.3 syndrome includes metopic craniosynostosis, hydrocephalus, macrosomia, and developmental delay

L. Hudgins, S. Aradhya, D. Stockton, 2012, American journal of medical genetics. Part A.

Saturation mutagenesis defines novel mouse models of severe spine deformity.

J. Rosenfeld, B. Beutler, C. Wise, 2021, Disease models & mechanisms.

ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination

A. Vanderver, C. Boerkoel, C. Tifft, 2014, American journal of medical genetics. Part A.

Newborn and carrier screening for spinal muscular atrophy

D. Pearl, R. Pyatt, S. Hashimoto, 2010, American journal of medical genetics. Part A.