Katherine H. Kim, MS

Genetic Counselor

Assistant Professor of Pediatrics (Genetics, Birth Defects, and Metabolism), Northwestern University Feinberg School of Medicine

Appointments & Referrals

1.800.543.7362 (1.800.KIDS DOC)

About Me

Clinical Interests: MPS disorders, neurofibromatosis, and skeletal dysplasia

Specialties, Programs & Conditions

Specialties:

Genetics, Birth Defects & Metabolism

Education & Training

Education: Master of Science in Human Genetics and Genetic Counseling, University of Pittsburgh, 1998; Bachelor of Science in Anthropology and Zoology, University of Michigan, Ann Arbor, 1994,

See Northwestern University Faculty Profile >

Research

Northwestern Scholars Profile >

Publications

Most recent publications

Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants Genet Med
TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants Genet Med
YAP Controls Endothelial Activation and Vascular Inflammation Through TRAF6 Circ Res123 (1): 43-56
Mutations in EFL1, an SBDS partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome J Med Genet54 (8): 558-566
Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures Clin Genet92 (2): 221-223
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype Am J Hum Genet100 (1): 179
De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype Am J Hum Genet99 (4): 991-999
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling Am J Hum Genet97 (2): 343-52
High dose genistein aglycone therapy is safe in patients with mucopolysaccharidoses involving the central nervous system Mol Genet Metab109 (4): 382-5

Katherine H. Kim, MS

Katherine H. Kim, MS

Genetic Counselor

Assistant Professor of Pediatrics (Genetics, Birth Defects, and Metabolism), Northwestern University Feinberg School of Medicine

Appointments & Referrals

1.800.543.7362 (1.800.KIDS DOC)

About Me

Specialties, Programs & Conditions

Education & Training

Research

Publications

Call 1.800.543.7362 for Insurance information. 1.800.543.7362

Location