Literature DB >> 27632685

Imprinting: the Achilles heel of trio-based exome sequencing.

Emmelien Aten1, Michael D Fountain2,3, Arie van Haeringen1, Christian P Schaaf2,3, Gijs W E Santen1.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2016        PMID： 27632685     DOI： 10.1038/gim.2016.128

Source DB:  PubMed          Journal:  Genet Med        ISSN： 1098-3600            Impact factor:   8.822


× No keyword cloud information.
  6 in total

1.  Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.

Authors:  Anita Rauch; Dagmar Wieczorek; Elisabeth Graf; Thomas Wieland; Sabine Endele; Thomas Schwarzmayr; Beate Albrecht; Deborah Bartholdi; Jasmin Beygo; Nataliya Di Donato; Andreas Dufke; Kirsten Cremer; Maja Hempel; Denise Horn; Juliane Hoyer; Pascal Joset; Albrecht Röpke; Ute Moog; Angelika Riess; Christian T Thiel; Andreas Tzschach; Antje Wiesener; Eva Wohlleber; Christiane Zweier; Arif B Ekici; Alexander M Zink; Andreas Rump; Christa Meisinger; Harald Grallert; Heinrich Sticht; Annette Schenck; Hartmut Engels; Gudrun Rappold; Evelin Schröck; Peter Wieacker; Olaf Riess; Thomas Meitinger; André Reis; Tim M Strom
Journal:  Lancet       Date:  2012-09-27       Impact factor: 79.321

2.  Diagnostic exome sequencing in persons with severe intellectual disability.

Authors:  Joep de Ligt; Marjolein H Willemsen; Bregje W M van Bon; Tjitske Kleefstra; Helger G Yntema; Thessa Kroes; Anneke T Vulto-van Silfhout; David A Koolen; Petra de Vries; Christian Gilissen; Marisol del Rosario; Alexander Hoischen; Hans Scheffer; Bert B A de Vries; Han G Brunner; Joris A Veltman; Lisenka E L M Vissers
Journal:  N Engl J Med       Date:  2012-10-03       Impact factor: 91.245

3.  Clinical whole-exome sequencing for the diagnosis of mendelian disorders.

Authors:  Yaping Yang; Donna M Muzny; Jeffrey G Reid; Matthew N Bainbridge; Alecia Willis; Patricia A Ward; Alicia Braxton; Joke Beuten; Fan Xia; Zhiyv Niu; Matthew Hardison; Richard Person; Mir Reza Bekheirnia; Magalie S Leduc; Amelia Kirby; Peter Pham; Jennifer Scull; Min Wang; Yan Ding; Sharon E Plon; James R Lupski; Arthur L Beaudet; Richard A Gibbs; Christine M Eng
Journal:  N Engl J Med       Date:  2013-10-02       Impact factor: 91.245

4.  Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.

Authors:  Caroline F Wright; Tomas W Fitzgerald; Wendy D Jones; Stephen Clayton; Jeremy F McRae; Margriet van Kogelenberg; Daniel A King; Kirsty Ambridge; Daniel M Barrett; Tanya Bayzetinova; A Paul Bevan; Eugene Bragin; Eleni A Chatzimichali; Susan Gribble; Philip Jones; Netravathi Krishnappa; Laura E Mason; Ray Miller; Katherine I Morley; Vijaya Parthiban; Elena Prigmore; Diana Rajan; Alejandro Sifrim; G Jawahar Swaminathan; Adrian R Tivey; Anna Middleton; Michael Parker; Nigel P Carter; Jeffrey C Barrett; Matthew E Hurles; David R FitzPatrick; Helen V Firth
Journal:  Lancet       Date:  2014-12-17       Impact factor: 79.321

5.  Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism.

Authors:  Christian P Schaaf; Manuel L Gonzalez-Garay; Fan Xia; Lorraine Potocki; Karen W Gripp; Baili Zhang; Brock A Peters; Mark A McElwain; Radoje Drmanac; Arthur L Beaudet; C Thomas Caskey; Yaping Yang
Journal:  Nat Genet       Date:  2013-09-29       Impact factor: 38.330

6.  Diagnosis of an imprinted-gene syndrome by a novel bioinformatics analysis of whole-genome sequences from a family trio.

Authors:  Dale L Bodian; Benjamin D Solomon; Alina Khromykh; Dzung C Thach; Ramaswamy K Iyer; Kathleen Link; Robin L Baker; Rajiv Baveja; Joseph G Vockley; John E Niederhuber
Journal:  Mol Genet Genomic Med       Date:  2014-08-26       Impact factor: 2.183
  6 in total
  3 in total

1.  A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis.

Authors:  Tiong Yang Tan; Sebastian Lunke; Belinda Chong; Dean Phelan; Miriam Fanjul-Fernandez; Justine E Marum; Vanessa Siva Kumar; Zornitza Stark; Alison Yeung; Natasha J Brown; Chloe Stutterd; Martin B Delatycki; Simon Sadedin; Melissa Martyn; Ilias Goranitis; Natalie Thorne; Clara L Gaff; Susan M White
Journal:  Eur J Hum Genet       Date:  2019-07-18       Impact factor: 4.246

2.  Pitfalls of trio-based exome sequencing: imprinted genes and parental mosaicism-MAGEL2 as an example.

Authors:  María Palomares-Bralo; Elena Vallespín; Ángela Del Pozo; Kristina Ibañez; Juan Carlos Silla; Enrique Galán; Gema Gordo; Víctor Martínez-Glez; Lázaro I Alba-Valdivia; Karen E Heath; Sixto García-Miñaúr; Pablo Lapunzina; Fernando Santos-Simarro
Journal:  Genet Med       Date:  2017-04-27       Impact factor: 8.822

3.  Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.

Authors:  Wenjia Tong; Yajian Wang; Yun Lu; Tongsheng Ye; Conglei Song; Yuanyuan Xu; Min Li; Jie Ding; Yuanyuan Duan; Le Zhang; Weiyue Gu; Xiaoling Zhao; Xiu-An Yang; Danqun Jin
Journal:  Sci Rep       Date:  2018-03-26       Impact factor: 4.379
  3 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.