| Li B, Leal SM
Methods for Detecting Associations with Rare Variants for Common Diseases: Application to Analysis of Sequence Data. [JOURNAL ARTICLE]
Am J Hum Genet 2008 Aug 6.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Ni Y, Zbuk KM, Sadler T, et al.
Germline mutations and variants in the succinate dehydrogenase genes in Cowden and Cowden-like syndromes. [Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't]
Am J Hum Genet 2008 Aug; 83(2):261-8.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Barel O, Shalev SA, Ofir R, et al.
Maternally inherited Birk Barel mental retardation dysmorphism syndrome caused by a mutation in the genomically imprinted potassium channel KCNK9. [Journal Article, Research Support, Non-U.S. Gov't]
Am J Hum Genet 2008 Aug; 83(2):193-9.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Cantagrel V, Silhavy JL, Bielas SL, et al.
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. [Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't]
Am J Hum Genet 2008 Aug; 83(2):170-9.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Lee JC, Weissglas-Volkov D, Kyttälä M, et al.
WW-domain-containing oxidoreductase is associated with low plasma HDL-C levels. [Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't]
Am J Hum Genet 2008 Aug; 83(2):180-92.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Young JM, Endicott RM, Parghi SS, et al.
Extensive copy-number variation of the human olfactory receptor gene family. [Journal Article, Research Support, N.I.H., Extramural]
Am J Hum Genet 2008 Aug; 83(2):228-42.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Smirnov DA, Cheung VG
ATM gene mutations result in both recessive and dominant expression phenotypes of genes and microRNAs. [Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't]
Am J Hum Genet 2008 Aug; 83(2):243-53.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Elliott HR, Samuels DC, Eden JA, et al.
Pathogenic mitochondrial DNA mutations are common in the general population. [Journal Article, Research Support, Non-U.S. Gov't]
Am J Hum Genet 2008 Aug; 83(2):254-60.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Zhang J, Li J, Deng H
Class-specific correlations of gene expressions: identification and their effects on clustering analyses. [Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't]
Am J Hum Genet 2008 Aug; 83(2):269-77.
Abstract | Full Citation | Publisher Full Text | Find Related Articles | | Ruel J, Emery S, Nouvian R, et al.
Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice. [Journal Article, Research Support, N.I.H., Extramural, Research Support, Non-U.S. Gov't]
Am J Hum Genet 2008 Aug; 83(2):278-92.
Abstract | Full Citation | Publisher Full Text | Find Related Articles |   |
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