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Kim Uhas | Researchclopedia

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Kim Uhas

Children's Healthcare of Atlanta

8

Works

876

Citations

7

h-index

7

i10-index

Research Topics

Neurofibromatosis and Schwannoma Cases Genomic variations and chromosomal abnormalities Vascular Malformations Diagnosis and Treatment

Affiliations

Children's Medical Center2000–2000

Emory University2010–2010

National Center on Birth Defects and Developmental Disabilities2012–2012

Children's Healthcare of Atlanta2000–2019

Top Works

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

Daniel Moreno‐De‐Luca,Jennifer G. Mullé,et al.

2010332 citations

Congenital heart defects research

Genetics and Neurodevelopmental Disorders

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1

Angela E. Lin,Patricia Birch,et al.

2000240 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,et al.

2019131 citations

Bone marrow transplantation for infantile ceramidase deficiency (Farber disease)

AM Yeager,Kim Uhas,et al.

200074 citations

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

Scott Hultman,John E. Riski,et al.

200064 citations

Cleft palate in a multigenerational family with a microdeletion of 20p12.3 involving <i>BMP2</i>

Eli S. Williams,Kim Uhas,et al.

201221 citations

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

Daniel Moreno‐De‐Luca,Jennifer G. Mullé,et al.

201114 citations