K. Uhas

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.

Urvashi Surti, Swaroop Aradhya, Margaret P Adam, 2010, American journal of human genetics.

Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Michael F. Wangler, E. Haan, E. Zackai, 2019, Human mutation.

Erratum: Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia (The American Journal of Human Genetics (2010) 87 (618-630))

Stephan J Sanders, D. Ledbetter, U. Surti, 2011 .

Cleft palate in a multigenerational family with a microdeletion of 20p12.3 involving BMP2

E. Williams, C. L. Martin, B. Bunke, 2012, American journal of medical genetics. Part A.

Chiari Malformation, Cervical Spine Anomalies, and Neurologic Deficits in Velocardiofacial Syndrome

Steven R. Cohen, K. Uhas, W. Boydston, 2000, Plastic and reconstructive surgery.

Bone marrow transplantation for infantile ceramidase deficiency (Farber disease)

K. Uhas, H. Moser, A. Yeager, 2000, Bone Marrow Transplantation.

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1.

C. Romano, R. Tenconi, B. Korf, 2000, American journal of medical genetics.

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.

Stephan J Sanders, D. Ledbetter, U. Surti, 2010, American journal of human genetics.