Yazar "Lupski, James R." için WoS İndeksli Yayınlar Koleksiyonu listeleme
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Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease
Karaca, Ender; Harel, Tamar; Pehlivan, Davut; Jhangiani, Shalini N.; Gambin, Tomasz; Akdemir, Zeynep Çoban; Lupski, James R.; Aydın, Hatip (Cell Press, 2015)Development of the human nervous system involves complex interactions among fundamental cellular processes and requires a multitude of genes, many of which remain to be associated with human disease. We applied whole exome ... -
Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin
Bayram, Yavuz; Karaca, Ender; Akdemir, Zeynep Çoban; Yılmaz, Elif Ozdamar; Tayfun, Gülsen Akay; Aydın, Hatip; Lupski, James R. (Amer Soc Clinical Investigation Inc, 2016)BACKGROUND. Arthrogryposis, defined as congenital, joint contractures in 2 or more body areas, is a clinical sign rather than a specific disease diagnosis. To date, more than 400 different disorders have been described ... -
Paralog Studies Augment Gene Discovery: DDX and DHX Genes
Paine, Ingrid; Posey, Jennifer E.; Grochowski, Christopher M.; Jhangiani, Shalini N.; Rosenheck, Sarah; Kleyner, Robert; Lupski, James R. (Cell Press, 2019)Members of a paralogous gene family in which variation in one gene is known to cause disease are eight times more likely to also be associated with human disease. Recent studies have elucidated DHX30 and DDX3X as genes for ...