Literature DB >> 27848943

Clinical utility gene card for: 16p12.2 microdeletion.

Lucilla Pizzo1, Joris Andrieux2, David J Amor3, Santhosh Girirajan1,4.   

Abstract

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Year:  2016        PMID： 27848943      PMCID： PMC5255956          DOI： 10.1038/ejhg.2016.158

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  12 in total

1.  Impaired associative taste learning and abnormal brain activation in kinase-defective eEF2K mice.

Authors:  Iness Gildish; David Manor; Orit David; Vijendra Sharma; David Williams; Usha Agarwala; Xuemin Wang; Justin W Kenney; Chris G Proud; Kobi Rosenblum
Journal:  Learn Mem       Date:  2012-02-24       Impact factor: 2.460

2.  SIN, a novel Drosophila protein that associates with the RNA binding protein sex-lethal.

Authors:  Z Dong; L R Bell
Journal:  Gene       Date:  1999-09-17       Impact factor: 3.688

Review 3.  Phenotypic variability and genetic susceptibility to genomic disorders.

Authors:  Santhosh Girirajan; Evan E Eichler
Journal:  Hum Mol Genet       Date:  2010-08-31       Impact factor: 6.150

4.  Bidirectional regulation of eEF2 phosphorylation controls synaptic plasticity by decoding neuronal activity patterns.

Authors:  Patrick K McCamphill; Carole A Farah; Mina N Anadolu; Sanjida Hoque; Wayne S Sossin
Journal:  J Neurosci       Date:  2015-03-11       Impact factor: 6.167

Review 5.  The role of eukaryotic elongation factor 2 kinase in rapid antidepressant action of ketamine.

Authors:  Lisa M Monteggia; Erinn Gideons; Ege T Kavalali
Journal:  Biol Psychiatry       Date:  2012-10-11       Impact factor: 13.382

6.  A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk.

Authors:  Francesca Antonacci; Jeffrey M Kidd; Tomas Marques-Bonet; Brian Teague; Mario Ventura; Santhosh Girirajan; Can Alkan; Catarina D Campbell; Laura Vives; Maika Malig; Jill A Rosenfeld; Blake C Ballif; Lisa G Shaffer; Tina A Graves; Richard K Wilson; David C Schwartz; Evan E Eichler
Journal:  Nat Genet       Date:  2010-08-22       Impact factor: 38.330

7.  Paraneoplastic cerebellar degeneration. I. A clinical analysis of 55 anti-Yo antibody-positive patients.

Authors:  K Peterson; M K Rosenblum; H Kotanides; J B Posner
Journal:  Neurology       Date:  1992-10       Impact factor: 9.910

8.  Phenotypic heterogeneity of genomic disorders and rare copy-number variants.

Authors:  Santhosh Girirajan; Jill A Rosenfeld; Bradley P Coe; Sumit Parikh; Neil Friedman; Amy Goldstein; Robyn A Filipink; Juliann S McConnell; Brad Angle; Wendy S Meschino; Marjan M Nezarati; Alexander Asamoah; Kelly E Jackson; Gordon C Gowans; Judith A Martin; Erin P Carmany; David W Stockton; Rhonda E Schnur; Lynette S Penney; Donna M Martin; Salmo Raskin; Kathleen Leppig; Heidi Thiese; Rosemarie Smith; Erika Aberg; Dmitriy M Niyazov; Luis F Escobar; Dima El-Khechen; Kisha D Johnson; Robert R Lebel; Kiana Siefkas; Susie Ball; Natasha Shur; Marianne McGuire; Campbell K Brasington; J Edward Spence; Laura S Martin; Carol Clericuzio; Blake C Ballif; Lisa G Shaffer; Evan E Eichler
Journal:  N Engl J Med       Date:  2012-09-12       Impact factor: 91.245

9.  Estimates of penetrance for recurrent pathogenic copy-number variations.

Authors:  Jill A Rosenfeld; Bradley P Coe; Evan E Eichler; Howard Cuckle; Lisa G Shaffer
Journal:  Genet Med       Date:  2012-12-20       Impact factor: 8.822

10.  Elongation factor 2 and fragile X mental retardation protein control the dynamic translation of Arc/Arg3.1 essential for mGluR-LTD.

Authors:  Sungjin Park; Joo Min Park; Sangmok Kim; Jin-Ah Kim; Jason D Shepherd; Constance L Smith-Hicks; Shoaib Chowdhury; Walter Kaufmann; Dietmar Kuhl; Alexey G Ryazanov; Richard L Huganir; David J Linden; Paul F Worley
Journal:  Neuron       Date:  2008-07-10       Impact factor: 17.173
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  1 in total

1.  Chromosomal Microarray Analysis for the Prenatal Diagnosis in Fetuses with Nasal Bone Hypoplasia: A Retrospective Cohort Study.

Authors:  Hailong Huang; Meiying Cai; Wei Ma; Na Lin; Liangpu Xu
Journal:  Risk Manag Healthc Policy       Date:  2021-04-14
  1 in total

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