Literature DB >> 26448731

Are Somatic Mutations in Cortical Development the One Bad Apple That Spoils the Bunch?

Chris Dulla.   

Abstract

Entities:  

Year:  2015        PMID: 26448731      PMCID: PMC4591860          DOI: 10.5698/1535-7511-15.5.265

Source DB:  PubMed          Journal:  Epilepsy Curr        ISSN: 1535-7511            Impact factor:   7.500


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  11 in total

1.  De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

Authors:  Jeong Ho Lee; My Huynh; Jennifer L Silhavy; Sangwoo Kim; Tracy Dixon-Salazar; Andrew Heiberg; Eric Scott; Vineet Bafna; Kiley J Hill; Adrienne Collazo; Vincent Funari; Carsten Russ; Stacey B Gabriel; Gary W Mathern; Joseph G Gleeson
Journal:  Nat Genet       Date:  2012-06-24       Impact factor: 38.330

2.  Next-generation sequencing in the clinic.

Authors:  Jason Y Park; Larry J Kricka; Paolo Fortina
Journal:  Nat Biotechnol       Date:  2013-11       Impact factor: 54.908

3.  Mosaic copy number variation in human neurons.

Authors:  Michael J McConnell; Michael R Lindberg; Kristen J Brennand; Julia C Piper; Thierry Voet; Chris Cowing-Zitron; Svetlana Shumilina; Roger S Lasken; Joris R Vermeesch; Ira M Hall; Fred H Gage
Journal:  Science       Date:  2013-11-01       Impact factor: 47.728

Review 4.  Malformations of cortical development: clinical features and genetic causes.

Authors:  Renzo Guerrini; William B Dobyns
Journal:  Lancet Neurol       Date:  2014-06-02       Impact factor: 44.182

5.  Somatic activation of AKT3 causes hemispheric developmental brain malformations.

Authors:  Annapurna Poduri; Gilad D Evrony; Xuyu Cai; Princess Christina Elhosary; Rameen Beroukhim; Maria K Lehtinen; L Benjamin Hills; Erin L Heinzen; Anthony Hill; R Sean Hill; Brenda J Barry; Blaise F D Bourgeois; James J Riviello; A James Barkovich; Peter M Black; Keith L Ligon; Christopher A Walsh
Journal:  Neuron       Date:  2012-04-12       Impact factor: 17.173

Review 6.  Somatic mutation, genomic variation, and neurological disease.

Authors:  Annapurna Poduri; Gilad D Evrony; Xuyu Cai; Christopher A Walsh
Journal:  Science       Date:  2013-07-05       Impact factor: 47.728

Review 7.  Abnormal development of the human cerebral cortex: genetics, functional consequences and treatment options.

Authors:  Renzo Guerrini; William B Dobyns; A James Barkovich
Journal:  Trends Neurosci       Date:  2008-02-08       Impact factor: 13.837

8.  Somatic mutations in cerebral cortical malformations.

Authors:  Saumya S Jamuar; Anh-Thu N Lam; Martin Kircher; Alissa M D'Gama; Jian Wang; Brenda J Barry; Xiaochang Zhang; Robert Sean Hill; Jennifer N Partlow; Aldo Rozzo; Sarah Servattalab; Bhaven K Mehta; Meral Topcu; Dina Amrom; Eva Andermann; Bernard Dan; Elena Parrini; Renzo Guerrini; Ingrid E Scheffer; Samuel F Berkovic; Richard J Leventer; Yiping Shen; Bai Lin Wu; A James Barkovich; Mustafa Sahin; Bernard S Chang; Michael Bamshad; Deborah A Nickerson; Jay Shendure; Annapurna Poduri; Timothy W Yu; Christopher A Walsh
Journal:  N Engl J Med       Date:  2014-08-21       Impact factor: 91.245

9.  Excess of rare, inherited truncating mutations in autism.

Authors:  Niklas Krumm; Tychele N Turner; Carl Baker; Laura Vives; Kiana Mohajeri; Kali Witherspoon; Archana Raja; Bradley P Coe; Holly A Stessman; Zong-Xiao He; Suzanne M Leal; Raphael Bernier; Evan E Eichler
Journal:  Nat Genet       Date:  2015-05-11       Impact factor: 38.330

10.  De novo mutations in epileptic encephalopathies.

Authors:  Andrew S Allen; Samuel F Berkovic; Patrick Cossette; Norman Delanty; Dennis Dlugos; Evan E Eichler; Michael P Epstein; Tracy Glauser; David B Goldstein; Yujun Han; Erin L Heinzen; Yuki Hitomi; Katherine B Howell; Michael R Johnson; Ruben Kuzniecky; Daniel H Lowenstein; Yi-Fan Lu; Maura R Z Madou; Anthony G Marson; Heather C Mefford; Sahar Esmaeeli Nieh; Terence J O'Brien; Ruth Ottman; Slavé Petrovski; Annapurna Poduri; Elizabeth K Ruzzo; Ingrid E Scheffer; Elliott H Sherr; Christopher J Yuskaitis; Bassel Abou-Khalil; Brian K Alldredge; Jocelyn F Bautista; Samuel F Berkovic; Alex Boro; Gregory D Cascino; Damian Consalvo; Patricia Crumrine; Orrin Devinsky; Dennis Dlugos; Michael P Epstein; Miguel Fiol; Nathan B Fountain; Jacqueline French; Daniel Friedman; Eric B Geller; Tracy Glauser; Simon Glynn; Sheryl R Haut; Jean Hayward; Sandra L Helmers; Sucheta Joshi; Andres Kanner; Heidi E Kirsch; Robert C Knowlton; Eric H Kossoff; Rachel Kuperman; Ruben Kuzniecky; Daniel H Lowenstein; Shannon M McGuire; Paul V Motika; Edward J Novotny; Ruth Ottman; Juliann M Paolicchi; Jack M Parent; Kristen Park; Annapurna Poduri; Ingrid E Scheffer; Renée A Shellhaas; Elliott H Sherr; Jerry J Shih; Rani Singh; Joseph Sirven; Michael C Smith; Joseph Sullivan; Liu Lin Thio; Anu Venkat; Eileen P G Vining; Gretchen K Von Allmen; Judith L Weisenberg; Peter Widdess-Walsh; Melodie R Winawer
Journal:  Nature       Date:  2013-08-11       Impact factor: 49.962

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