B. Hudson

Microdeletion of 6q16.1 encompassing EPHA7 in a child with mild neurological abnormalities and dysmorphic features: case report

J. Rosenfeld, B. Torchia, L. Shaffer, 2009, Molecular Cytogenetics.

Investigation of TBR1 Hemizygosity: Four Individuals with 2q24 Microdeletions

J. Rosenfeld, L. Shaffer, B. Ballif, 2012, Molecular Syndromology.

Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype–phenotype spectrum and functional impact on GPI‐anchored proteins

P. Striano, M. Larsen, Philippe M. Campeau, 2021, Clinical genetics.