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1: Title: Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome.
Authors: Ta-Shma, Asaf, et.al. .
Journal: American journal of human genetics (Am J Hum Genet), Vol. 100 (4): 666-675, 2017 .
Snippet: First, either transient suppression or CRISPR/Cas9 genome editing of zebrafish tmem260 recapitulated key neurological phenotypes.
Affiliation: Department of Pediatric Cardiology, Hadassah Medical Center, Jerusalem 91120, Israel. Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA. Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA; Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Ramat Gan 52621, Israel. Bonei Olam, Center for Rare Jewish Genetic Disorders, Brooklyn, NY 11204, USA. Talpiot Medical Leadership Program, Sheba Medical Center, Tel-Hashomer, Ramat Gan 52621, Israel; Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Ramat Gan 52621, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv 6997801, Israel. Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Ramat Gan 52621, Israel; Sackler Faculty of Medicine, Tel-Aviv University, Tel-Aviv 6997801, Israel. Department of Medicine, Boston Children's Hospital and Harvard Medical School, Boston, MA 02115, USA. Center for Human Disease Modeling, Duke University Medical Center, Durham, NC 27701, USA. Electronic address: katsanis@cellbio.duke.edu. Monique and Jacques Roboh Department of Genetic Research, Hadassah Medical Center, Jerusalem 91120, Israel. Electronic address: elpeleg@hadassah.org.il. .
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