Kim Uhas

Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia

Daniel Moreno‐De‐Luca, Jennifer G. Mullé, Erin B. Kaminsky et al. · The American Journal of Human Genetics · 2010 · 331 citations · Full text

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

Angela E. Lin, Patricia Birch, Bruce R. Korf et al. · American Journal of Medical Genetics · 2000 · 239 citations

Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1

Magdalena Koczkowska, Tom Callens, Yunjia Chen et al. · Human Mutation · 2019 · 130 citations · Full text

Bone marrow transplantation for infantile ceramidase deficiency (Farber disease)

AM Yeager, Kim Uhas, CD Coles et al. · Bone Marrow Transplantation · 2000 · 74 citations

Bone Marrow Failure, Transplantation, Marrow Transplantation +3

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

Scott Hultman, John E. Riski, Steven R. Cohen et al. · Plastic & Reconstructive Surgery · 2000 · 64 citations