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:

Pediatric Genetic Disorders Care >

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,

Publications

Most recent publications

Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures Clin Genet92 (2): 221-223
CDKL5 and ARX Mutations in Males With Early-Onset Epilepsy Pediatr Neurol48 (5): 367-77
Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss Nat Genet43 (4): 303-5
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
Further Evidence of Contrasting Phenotypes Caused by Reciprocal Deletions and Duplications: Duplication of NSD1 Causes Growth Retardation and Microcephaly Mol Syndromol3 (6): 247-54
Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes Hum Mol Genet20 (8): 1595-609
Episodic myoglobinuria in a primary gamma-sarcoglycanopathy Neuromuscul Disord20 (5): 337-9
Successful management of difficult infusion-associated reactions in a young patient with mucopolysaccharidosis type VI receiving recombinant human arylsulfatase B (galsulfase [Naglazyme]) Pediatrics121 (3): e714-7
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

Publications

Call 1.800.543.7362 for Insurance information. 1.800.543.7362

Locations