M. Patterson

Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units

Peter Saffrey, Sean Humphray, Aaron Noll, 2012, Science Translational Medicine.

Functional validation of novel compound heterozygous variants in B3GAT3 resulting in severe osteopenia and fractures: expanding the disease phenotype

Laurie A. Smith, Neil A. Miller, N. Miller, 2016, BMC Medical Genetics.

Loss of Function Variants in Human PNPLA8 Encoding Calcium‐Independent Phospholipase A2γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse

Laurie D. Smith, Neil A. Miller, S. Kingsmore, 2015 .

Loss of Function Variants in Human PNPLA8 Encoding Calcium‐Independent Phospholipase A2γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse

Laurie D. Smith, Neil A. Miller, S. Kingsmore, 2015, Human mutation.

Neonatal Intensive Care Units Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in

Neil A. Miller, Carol J. Saunders, E. H. Margulies, 2012 .

Allele drop-out in the MECP2 gene due to G-quadruplex and i-motif sequences when using polymerase chain reaction-based diagnosis for Rett syndrome.

Carol J. Saunders, C. Saunders, M. Friez, 2010, Genetic testing and molecular biomarkers.

Novel blended SNRPE‐related spliceosomopathy phenotype characterized by microcephaly and congenital atrichia

C. Saunders, M. Patterson, A. Nopper, 2023, American journal of medical genetics. Part A.

Loss of Function Variants in Human PNPLA8 Encoding Calcium‐Independent Phospholipase A2γ Recapitulate the Mitochondriopathy of the Homologous Null Mouse

Laurie D. Smith, Neil A. Miller, S. Kingsmore, 2015, Human mutation.