K. Schmidt

Ethnically diverse causes of Walker‐Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East

C. Walsh, W. Dobyns, Karen R Schmidt, 2008, Human mutation.

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.

William W. Cohen, L. Shaffer, E. Zackai, 2009, Human molecular genetics.

Expanding the clinical phenotype of the 3q29 microdeletion syndrome and characterization of the reciprocal microduplication

R. Tervo, L. Shaffer, E. Zackai, 2008, Molecular Cytogenetics.

Adaptor protein complex-4 (AP-4) deficiency causes a novel autosomal recessive cerebral palsy syndrome with microcephaly and intellectual disability

D. Ledbetter, P. Fernhoff, C. Martin, 2010, Journal of Medical Genetics.

Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies

R. Stevenson, C. Schwartz, A. Srivastava, 2005, Cytogenetic and Genome Research.