Literature DB >> 25987160

Pinpointing clinical diagnosis through whole exome sequencing to direct patient care: a case of Senior-Loken syndrome.

Jamie M Ellingford1, Panagiotis I Sergouniotis2, Rachel Lennon3, Sanjeev Bhaskar1, Simon G Williams1, Kate A Hillman4, James O'Sullivan1, Georgina Hall1, Simon C Ramsden1, I Christopher Lloyd2, Adrian S Woolf3, Graeme C M Black5.   

Abstract

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Year:  2015        PMID： 25987160     DOI： 10.1016/S0140-6736(15)60496-2

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  14 in total

1.  Leveraging splice-affecting variant predictors and a minigene validation system to identify Mendelian disease-causing variants among exon-captured variants of uncertain significance.

Authors:  Zachry T Soens; Justin Branch; Shijing Wu; Zhisheng Yuan; Yumei Li; Hui Li; Keqing Wang; Mingchu Xu; Lavan Rajan; Fabiana L Motta; Renata T Simões; Irma Lopez-Solache; Radwan Ajlan; David G Birch; Peiquan Zhao; Fernanda B Porto; Juliana Sallum; Robert K Koenekoop; Ruifang Sui; Rui Chen
Journal:  Hum Mutat       Date:  2017-08-18       Impact factor: 4.878

2.  Accuracy of Next-Generation Sequencing for Molecular Diagnosis in Patients With Infantile Nystagmus Syndrome.

Authors:  John Hoon Rim; Seung-Tae Lee; Heon Yung Gee; Byung Joo Lee; Jong Rak Choi; Hye Won Park; Sueng-Han Han; Jinu Han
Journal:  JAMA Ophthalmol       Date:  2017-12-01       Impact factor: 7.389

Review 3.  Genomic medicine for kidney disease.

Authors:  Emily E Groopman; Hila Milo Rasouly; Ali G Gharavi
Journal:  Nat Rev Nephrol       Date:  2018-01-08       Impact factor: 28.314

4.  Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.

Authors:  Keren J Carss; Gavin Arno; Marie Erwood; Jonathan Stephens; Alba Sanchis-Juan; Sarah Hull; Karyn Megy; Detelina Grozeva; Eleanor Dewhurst; Samantha Malka; Vincent Plagnol; Christopher Penkett; Kathleen Stirrups; Roberta Rizzo; Genevieve Wright; Dragana Josifova; Maria Bitner-Glindzicz; Richard H Scott; Emma Clement; Louise Allen; Ruth Armstrong; Angela F Brady; Jenny Carmichael; Manali Chitre; Robert H H Henderson; Jane Hurst; Robert E MacLaren; Elaine Murphy; Joan Paterson; Elisabeth Rosser; Dorothy A Thompson; Emma Wakeling; Willem H Ouwehand; Michel Michaelides; Anthony T Moore; Andrew R Webster; F Lucy Raymond
Journal:  Am J Hum Genet       Date:  2016-12-29       Impact factor: 11.025

5.  Whole Genome Sequencing Increases Molecular Diagnostic Yield Compared with Current Diagnostic Testing for Inherited Retinal Disease.

Authors:  Jamie M Ellingford; Stephanie Barton; Sanjeev Bhaskar; Simon G Williams; Panagiotis I Sergouniotis; James O'Sullivan; Janine A Lamb; Rahat Perveen; Georgina Hall; William G Newman; Paul N Bishop; Stephen A Roberts; Rick Leach; Rick Tearle; Stuart Bayliss; Simon C Ramsden; Andrea H Nemeth; Graeme C M Black
Journal:  Ophthalmology       Date:  2016-02-09       Impact factor: 12.079

6.  Retinal Diseases Caused by Mutations in Genes Not Specifically Associated with the Clinical Diagnosis.

Authors:  Xia Wang; Yanming Feng; Jianli Li; Wei Zhang; Jing Wang; Richard A Lewis; Lee-Jun Wong
Journal:  PLoS One       Date:  2016-10-27       Impact factor: 3.240

7.  Identification of splice defects due to noncanonical splice site or deep-intronic variants in ABCA4.

Authors:  Zeinab Fadaie; Mubeen Khan; Marta Del Pozo-Valero; Stéphanie S Cornelis; Carmen Ayuso; Frans P M Cremers; Susanne Roosing
Journal:  Hum Mutat       Date:  2019-09-03       Impact factor: 4.878

Review 8.  From gene discovery to new biological mechanisms: heparanases and congenital urinary bladder disease.

Authors:  Neil A Roberts; Emma N Hilton; Adrian S Woolf
Journal:  Nephrol Dial Transplant       Date:  2015-08-27       Impact factor: 5.992

9.  Molecular findings from 537 individuals with inherited retinal disease.

Authors:  Jamie M Ellingford; Stephanie Barton; Sanjeev Bhaskar; James O'Sullivan; Simon G Williams; Janine A Lamb; Binay Panda; Panagiotis I Sergouniotis; Rachel L Gillespie; Stephen P Daiger; Georgina Hall; Theodora Gale; I Christopher Lloyd; Paul N Bishop; Simon C Ramsden; Graeme C M Black
Journal:  J Med Genet       Date:  2016-05-11       Impact factor: 6.318

10.  Assessment of the incorporation of CNV surveillance into gene panel next-generation sequencing testing for inherited retinal diseases.

Authors:  Jamie M Ellingford; Bradley Horn; Christopher Campbell; Gavin Arno; Stephanie Barton; Catriona Tate; Sanjeev Bhaskar; Panagiotis I Sergouniotis; Rachel L Taylor; Keren J Carss; Lucy F L Raymond; Michel Michaelides; Simon C Ramsden; Andrew R Webster; Graeme C M Black
Journal:  J Med Genet       Date:  2017-10-26       Impact factor: 6.318
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