H. Jeffrey Kim

Phenotype and Course of Hutchinson–Gilford Progeria Syndrome

Melissa A. Merideth, Leslie B. Gordon, Sarah Clauss et al. · New England Journal of Medicine · 2008 · 741 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

<i>NLRP3</i> mutation and cochlear autoinflammation cause syndromic and nonsyndromic hearing loss DFNA34 responsive to anakinra therapy

Hiroshi Nakanishi, Yoshiyuki Kawashima, Kiyoto Kurima et al. · Proceedings of the National Academy of Sciences · 2017 · 151 citations · Full text

Life Sciences, Audiology, Immunology +16

Hypo-Functional<i>SLC26A4</i>variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: Genotype-phenotype correlation or coincidental polymorphisms?

Byung Yoon Choi, Andrew K. Stewart, Anne C. Madeo et al. · Human Mutation · 2009 · 150 citations · Full text

Medicine, Genetics, Molecular Genetics +16

Long-term natural history of neurofibromatosis Type 2–associated intracranial tumors

Michael Dirks, John A. Butman, H. Jeffrey Kim et al. · Journal of neurosurgery · 2012 · 127 citations · Full text

Medicine, Neurology, Oncology +17

Cryopyrin‐Associated Periodic Syndromes

Neda Ahmadi, Carmen C. Brewer, Christopher Zalewski et al. · Otolaryngology · 2011 · 91 citations

Medicine, Audiology, Otolaryngology +17