Literature DB >> 26942292

Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine.

Vinit B Mahajan1, Alexander G Bassuk2.   

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Year:  2016        PMID： 26942292      PMCID： PMC4800048          DOI： 10.1016/j.ajhg.2016.02.002

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  12 in total

1.  PRICKLE2 Mutations Might Not Be Involved in Epilepsy.

Authors:  Erin Sandford; Thomas D Bird; Jun Z Li; Margit Burmeister
Journal:  Am J Hum Genet       Date:  2016-03-03       Impact factor: 11.025

2.  Progressive myoclonus and epilepsy with dentatorubral degeneration: a clinicopathological study of the Ramsay Hunt syndrome.

Authors:  T D Bird; C M Shaw
Journal:  J Neurol Neurosurg Psychiatry       Date:  1978-02       Impact factor: 10.154

3.  A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria.

Authors:  Alexander G Bassuk; Elliott H Sherr
Journal:  J Neurogenet       Date:  2016-01-04       Impact factor: 1.250

4.  Molecular findings among patients referred for clinical whole-exome sequencing.

Authors:  Yaping Yang; Donna M Muzny; Fan Xia; Zhiyv Niu; Richard Person; Yan Ding; Patricia Ward; Alicia Braxton; Min Wang; Christian Buhay; Narayanan Veeraraghavan; Alicia Hawes; Theodore Chiang; Magalie Leduc; Joke Beuten; Jing Zhang; Weimin He; Jennifer Scull; Alecia Willis; Megan Landsverk; William J Craigen; Mir Reza Bekheirnia; Asbjorg Stray-Pedersen; Pengfei Liu; Shu Wen; Wendy Alcaraz; Hong Cui; Magdalena Walkiewicz; Jeffrey Reid; Matthew Bainbridge; Ankita Patel; Eric Boerwinkle; Arthur L Beaudet; James R Lupski; Sharon E Plon; Richard A Gibbs; Christine M Eng
Journal:  JAMA       Date:  2014-11-12       Impact factor: 56.272

5.  A girl with an interstitial deletion of the short arm of chromosome 3 studied with a high-resolution banding technique.

Authors:  Z Sichong; T H Bui; I Castro; L Iselius; S Håkansson; K M Lundmark
Journal:  Hum Genet       Date:  1981       Impact factor: 4.132

6.  Mutations in prickle orthologs cause seizures in flies, mice, and humans.

Authors:  Hirotaka Tao; J Robert Manak; Levi Sowers; Xue Mei; Hiroshi Kiyonari; Takaya Abe; Nader S Dahdaleh; Tian Yang; Shu Wu; Shan Chen; Mark H Fox; Christina Gurnett; Thomas Montine; Thomas Bird; Lisa G Shaffer; Jill A Rosenfeld; Juliann McConnell; Suneeta Madan-Khetarpal; Elizabeth Berry-Kravis; Hilary Griesbach; Russell P Saneto; Matthew P Scott; Dragana Antic; Jordan Reed; Riley Boland; Salleh N Ehaideb; Hatem El-Shanti; Vinit B Mahajan; Polly J Ferguson; Jeffrey D Axelrod; Anna-Elina Lehesjoki; Bernd Fritzsch; Diane C Slusarski; John Wemmie; Naoto Ueno; Alexander G Bassuk
Journal:  Am J Hum Genet       Date:  2011-02-03       Impact factor: 11.025

7.  A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.

Authors:  Alexander G Bassuk; Robyn H Wallace; Aimee Buhr; Andrew R Buller; Zaid Afawi; Masahito Shimojo; Shingo Miyata; Shan Chen; Pedro Gonzalez-Alegre; Hilary L Griesbach; Shu Wu; Marcus Nashelsky; Eszter K Vladar; Dragana Antic; Polly J Ferguson; Sebahattin Cirak; Thomas Voit; Matthew P Scott; Jeffrey D Axelrod; Christina Gurnett; Azhar S Daoud; Sara Kivity; Miriam Y Neufeld; Aziz Mazarib; Rachel Straussberg; Simri Walid; Amos D Korczyn; Diane C Slusarski; Samuel F Berkovic; Hatem I El-Shanti
Journal:  Am J Hum Genet       Date:  2008-10-30       Impact factor: 11.025

8.  Disruption of the non-canonical Wnt gene PRICKLE2 leads to autism-like behaviors with evidence for hippocampal synaptic dysfunction.

Authors:  L P Sowers; L Loo; Y Wu; E Campbell; J D Ulrich; S Wu; L Paemka; T Wassink; K Meyer; X Bing; H El-Shanti; Y M Usachev; N Ueno; J R Manak; R J Manak; A J Shepherd; P J Ferguson; B W Darbro; G B Richerson; D P Mohapatra; J A Wemmie; A G Bassuk
Journal:  Mol Psychiatry       Date:  2013-05-28       Impact factor: 13.437

9.  Molecular diagnostic experience of whole-exome sequencing in adult patients.

Authors:  Jennifer E Posey; Jill A Rosenfeld; Regis A James; Matthew Bainbridge; Zhiyv Niu; Xia Wang; Shweta Dhar; Wojciech Wiszniewski; Zeynep H C Akdemir; Tomasz Gambin; Fan Xia; Richard E Person; Magdalena Walkiewicz; Chad A Shaw; V Reid Sutton; Arthur L Beaudet; Donna Muzny; Christine M Eng; Yaping Yang; Richard A Gibbs; James R Lupski; Eric Boerwinkle; Sharon E Plon
Journal:  Genet Med       Date:  2015-12-03       Impact factor: 8.822

10.  Precision Medicine: Genetic Repair of Retinitis Pigmentosa in Patient-Derived Stem Cells.

Authors:  Alexander G Bassuk; Andrew Zheng; Yao Li; Stephen H Tsang; Vinit B Mahajan
Journal:  Sci Rep       Date:  2016-01-27       Impact factor: 4.379
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