Juliann S McConnell

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Donna M. Martin, B. Coe, J. Rosenfeld, 2012, The New England journal of medicine.

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Stephanie E. Vallee, J. Rosenfeld, E. Eichler, 2012, Human mutation.

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes

Matthew J. Thomas, J. Rosenfeld, B. Torchia, 2012, European Journal of Human Genetics.

Mutations in prickle orthologs cause seizures in flies, mice, and humans.

J. Rosenfeld, L. Shaffer, M. Scott, 2011, American journal of human genetics.

Biomechanical Properties of the Skin in Cutis Laxa

F. Sciurba, R. Minster, Juliann McConnell, 2014, The Journal of investigative dermatology.

Response to Drs. Stöllberger and Finsterer “Noncompaction Is Already Known in DiGeorge Anomaly From 22q11.2 Deletion Syndrome”

U. Surti, S. Tadros, Juliann McConnell, 2011 .

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Bradley P. Coe, Donna M. Martin, J. Rosenfeld, 2012, The New England journal of medicine.

Left ventricular non‐compaction on MRI in a patient with 22q11.2 distal deletion

U. Surti, S. Tadros, Juliann McConnell, 2010, American journal of medical genetics. Part A.