Literature DB >> 29659731

Reply: ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.

Juliette Piard1,2, George K Essien Umanah3,4, Frederike L Harms5, Leire Abalde-Atristain3,6, Daniel Amram7, Melissa Chang3,4, Rong Chen3,4, Malik Alawi8,9, Vincenzo Salpietro10, Mark I Rees11, Seo-Kyung Chung11, Henry Houlden10, Alain Verloes12, Ted M Dawson3,4,6,13,14, Valina L Dawson3,4,6,13,15, Lionel Van Maldergem1,2,16, Kerstin Kutsche5.   

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Year:  2018        PMID： 29659731      PMCID： PMC5972662          DOI： 10.1093/brain/awy100

Source DB:  PubMed          Journal:  Brain        ISSN： 0006-8950            Impact factor:   13.501


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  10 in total

1.  The AAA+ ATPase Thorase regulates AMPA receptor-dependent synaptic plasticity and behavior.

Authors:  Jianmin Zhang; Yue Wang; Zhikai Chi; Matthew J Keuss; Ying-Min Emily Pai; Ho Chul Kang; Joo-Ho Shin; Artem Bugayenko; Hong Wang; Yulan Xiong; Mikhail V Pletnikov; Mark P Mattson; Ted M Dawson; Valina L Dawson
Journal:  Cell       Date:  2011-04-15       Impact factor: 41.582

2.  M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity.

Authors:  Karthik A Jagadeesh; Aaron M Wenger; Mark J Berger; Harendra Guturu; Peter D Stenson; David N Cooper; Jonathan A Bernstein; Gill Bejerano
Journal:  Nat Genet       Date:  2016-10-24       Impact factor: 38.330

3.  Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.

Authors:  Hirotomo Saitsu; Sumimasa Yamashita; Yukichi Tanaka; Yoshinori Tsurusaki; Mitsuko Nakashima; Noriko Miyake; Naomichi Matsumoto
Journal:  J Hum Genet       Date:  2014-10-16       Impact factor: 3.172

4.  REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.

Authors:  Nilah M Ioannidis; Joseph H Rothstein; Vikas Pejaver; Sumit Middha; Shannon K McDonnell; Saurabh Baheti; Anthony Musolf; Qing Li; Emily Holzinger; Danielle Karyadi; Lisa A Cannon-Albright; Craig C Teerlink; Janet L Stanford; William B Isaacs; Jianfeng Xu; Kathleen A Cooney; Ethan M Lange; Johanna Schleutker; John D Carpten; Isaac J Powell; Olivier Cussenot; Geraldine Cancel-Tassin; Graham G Giles; Robert J MacInnis; Christiane Maier; Chih-Lin Hsieh; Fredrik Wiklund; William J Catalona; William D Foulkes; Diptasri Mandal; Rosalind A Eeles; Zsofia Kote-Jarai; Carlos D Bustamante; Daniel J Schaid; Trevor Hastie; Elaine A Ostrander; Joan E Bailey-Wilson; Predrag Radivojac; Stephen N Thibodeau; Alice S Whittemore; Weiva Sieh
Journal:  Am J Hum Genet       Date:  2016-09-22       Impact factor: 11.025

5.  ATAD1 encephalopathy and stiff baby syndrome: a recognizable clinical presentation.

Authors:  Nicole I Wolf; Johannes Zschocke; Cornelis Jakobs; Dietz Rating; Georg F Hoffmann
Journal:  Brain       Date:  2018-06-01       Impact factor: 13.501

6.  Rapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.

Authors:  Carol Jean Saunders; Neil Andrew Miller; Sarah Elizabeth Soden; Darrell Lee Dinwiddie; Aaron Noll; Noor Abu Alnadi; Nevene Andraws; Melanie LeAnn Patterson; Lisa Ann Krivohlavek; Joel Fellis; Sean Humphray; Peter Saffrey; Zoya Kingsbury; Jacqueline Claire Weir; Jason Betley; Russell James Grocock; Elliott Harrison Margulies; Emily Gwendolyn Farrow; Michael Artman; Nicole Pauline Safina; Joshua Erin Petrikin; Kevin Peter Hall; Stephen Francis Kingsmore
Journal:  Sci Transl Med       Date:  2012-10-03       Impact factor: 17.956

7.  A homozygous ATAD1 mutation impairs postsynaptic AMPA receptor trafficking and causes a lethal encephalopathy.

Authors:  Juliette Piard; George K Essien Umanah; Frederike L Harms; Leire Abalde-Atristain; Daniel Amram; Melissa Chang; Rong Chen; Malik Alawi; Vincenzo Salpietro; Mark I Rees; Seo-Kyung Chung; Henry Houlden; Alain Verloes; Ted M Dawson; Valina L Dawson; Lionel Van Maldergem; Kerstin Kutsche
Journal:  Brain       Date:  2018-03-01       Impact factor: 13.501

8.  Genetic mapping and exome sequencing identify variants associated with five novel diseases.

Authors:  Erik G Puffenberger; Robert N Jinks; Carrie Sougnez; Kristian Cibulskis; Rebecca A Willert; Nathan P Achilly; Ryan P Cassidy; Christopher J Fiorentini; Kory F Heiken; Johnny J Lawrence; Molly H Mahoney; Christopher J Miller; Devika T Nair; Kristin A Politi; Kimberly N Worcester; Roni A Setton; Rosa Dipiazza; Eric A Sherman; James T Eastman; Christopher Francklyn; Susan Robey-Bond; Nicholas L Rider; Stacey Gabriel; D Holmes Morton; Kevin A Strauss
Journal:  PLoS One       Date:  2012-01-17       Impact factor: 3.240

9.  A general framework for estimating the relative pathogenicity of human genetic variants.

Authors:  Martin Kircher; Daniela M Witten; Preti Jain; Brian J O'Roak; Gregory M Cooper; Jay Shendure
Journal:  Nat Genet       Date:  2014-02-02       Impact factor: 38.330

10.  Precision therapy for a new disorder of AMPA receptor recycling due to mutations in ATAD1.

Authors:  Rebecca C Ahrens-Nicklas; George K E Umanah; Neal Sondheimer; Matthew A Deardorff; Alisha B Wilkens; Laura K Conlin; Avni B Santani; Addie Nesbitt; Jane Juulsola; Erica Ma; Ted M Dawson; Valina L Dawson; Eric D Marsh
Journal:  Neurol Genet       Date:  2017-02-01
  10 in total

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