Katherine H. Kim

Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling

Lot Snijders Blok, Erik Madsen, Jane Juusola et al. · The American Journal of Human Genetics · 2015 · 324 citations · Full text

Unexplained Intellectual Disability, Gender-specific Effects, Mendelian Disorder +10

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

Michael A. Simpson, Melita Irving, Esra Asilmaz et al. · Nature Genetics · 2011 · 306 citations

Progressive Bone Loss, Craniofacial Disorder, Genetic Disorder +4

Fibulin-4: A Novel Gene for an Autosomal Recessive Cutis Laxa Syndrome

Vishwanathan Hucthagowder, Nina Sausgruber, Katherine H. Kim et al. · The American Journal of Human Genetics · 2006 · 304 citations · Full text

Novel Gene, Genetic Disorder, Genetics +4

Mutations in <i>EFL1</i>, an <i>SBDS</i> partner, are associated with infantile pancytopenia, exocrine pancreatic insufficiency and skeletal anomalies in aShwachman-Diamond like syndrome

Polina Stepensky, Montserrat Chacón-Flores, Katherine H. Kim et al. · Journal of Medical Genetics · 2017 · 122 citations

Effects of Airgun Sounds on Bowhead Whale Calling Rates: Evidence for Two Behavioral Thresholds

Susanna B. Blackwell, Christopher S. Nations, Trent L. McDonald et al. · PLoS ONE · 2015 · 102 citations · Full text

Psychoacoustics, Engineering, Acoustical Oceanography +20