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Kim Armfield Uhas

Observed names: K Armfield Uhas, Kim A. Uhas, Kim Armfield-Uhas, Kim Uhas
OpenAlex ID: A5075910029
Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia
2010 · Daniel Moreno-De-Luca, Jennifer G. Mulle, et al. · The American Journal of Human Genetics · 324
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Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1
2000 · Angela E. Lin, Patricia H. Birch, et al. · American Journal of Medical Genetics · 240
Clinical spectrum of individuals with pathogenic N F1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
2019 · Magdalena Koczkowska, Tom Callens, et al. · Human Mutation · 134
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Bone marrow transplantation for infantile ceramidase deficiency (Farber disease)
2000 · AM Yeager, K Armfield Uhas, et al. · Bone Marrow Transplantation · 74
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy
2020 · Yu-Ri Lee, Kamal Khan, et al. · Nature Communications · 70
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Chiari Malformation, Cervical Spine Anomalies, and Neurologic Deficits in Velocardiofacial Syndrome
2000 · Scott C. Hultman, John E. Riski, et al. · Plastic & Reconstructive Surgery · 63
Cleft palate in a multigenerational family with a microdeletion of 20p12.3 involving BMP2
2012 · Eli S. Williams, Kim A. Uhas, et al. · American Journal of Medical Genetics Part A · 21
Deletion 17q12 Is a Recurrent Copy Number Variant that Confers High Risk of Autism and Schizophrenia
2011 · Daniel Moreno-De-Luca, Jennifer G. Mulle, et al. · The American Journal of Human Genetics · 9
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Works count: 8
Citation count: 935
H-index: 8
I10-index: 7
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