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Experimental & Molecular Medicine|November 3, 2022
A database of 5305 healthy Korean individuals reveals genetic and clinical implications for an East Asian populationJeongeun Lee, Jean Lee, Sungwon Jeon, et al.
Elife|April 25, 2015
Recurrent gain of function mutation in calcium channel CACNA1H causes early-onset hypertension with primary aldosteronismUte I Scholl, Gabriel Stölting, Carol Nelson-Williams, et al.
Annals of Neurology|August 29, 2012
Familial cortical myoclonus with a mutation in NOL3Jonathan F Russell, Jamie L Steckley, Giovanni Coppola, et al.
Advanced Science (Weinheim, Baden-Wurttemberg, Germany)|June 13, 2022
Multi-Omics-Based Autophagy-Related Untypical Subtypes in Patients with Cerebral Amyloid PathologyJong-Chan Park, Natalia Barahona-Torres, So-Yeong Jang, et al.
American Journal of Human Genetics|May 17, 2016
Mutations in the Histone Modifier PRDM6 Are Associated with Isolated Nonsyndromic Patent Ductus ArteriosusNa Li, Lakshman Subrahmanyan, Emily Smith, et al.
American Journal of Respiratory and Critical Care Medicine|August 31, 2016
A Genome-Wide Association Study to Identify Single-Nucleotide Polymorphisms for Acute Kidney InjuryBixiao Zhao, Qiongshi Lu, Yuwei Cheng, et al.
American Journal of Human Genetics|November 7, 2017
Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain PhenotypeIdeke J C Lamers, Margot R F Reijnders, Hanka Venselaar, et al.
The Journal of Clinical Endocrinology and Metabolism|December 10, 2014
Whole-exome sequencing characterizes the landscape of somatic mutations and copy number alterations in adrenocortical carcinomaC Christofer Juhlin, Gerald Goh, James M Healy, et al.
Molecular Autism|April 11, 2017
Neurogenetic analysis of childhood disintegrative disorderAbha R Gupta, Alexander Westphal, Daniel Y J Yang, et al.
Psychiatry Investigation|December 7, 2017
Korean Brain Aging Study for the Early Diagnosis and Prediction of Alzheimer's Disease: Methodology and Baseline Sample CharacteristicsMin Soo Byun, Dahyun Yi, Jun Ho Lee, et al.
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