Literature DB >> 30989467

RNAseq Supports the Molecular Genetic Diagnosis of Late-Onset ADA Deficiency.

Christopher M Watson1,2, Claire Stockdale3, Ian Berry1, Laura A Crinnion1,2, Ian M Carr2, Andrew Cant4, David T Bonthron1,2, Sinisa Savic5,6.   

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Year:  2019        PMID： 30989467     DOI： 10.1007/s10875-019-00625-4

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


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  6 in total

1.  Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.

Authors:  Beryl B Cummings; Jamie L Marshall; Taru Tukiainen; Monkol Lek; Sandra Donkervoort; A Reghan Foley; Veronique Bolduc; Leigh B Waddell; Sarah A Sandaradura; Gina L O'Grady; Elicia Estrella; Hemakumar M Reddy; Fengmei Zhao; Ben Weisburd; Konrad J Karczewski; Anne H O'Donnell-Luria; Daniel Birnbaum; Anna Sarkozy; Ying Hu; Hernan Gonorazky; Kristl Claeys; Himanshu Joshi; Adam Bournazos; Emily C Oates; Roula Ghaoui; Mark R Davis; Nigel G Laing; Ana Topf; Peter B Kang; Alan H Beggs; Kathryn N North; Volker Straub; James J Dowling; Francesco Muntoni; Nigel F Clarke; Sandra T Cooper; Carsten G Bönnemann; Daniel G MacArthur
Journal:  Sci Transl Med       Date:  2017-04-19       Impact factor: 17.956

Review 2.  Genotype is an important determinant of phenotype in adenosine deaminase deficiency.

Authors:  Michael S Hershfield
Journal:  Curr Opin Immunol       Date:  2003-10       Impact factor: 7.486

3.  Clinical efficacy of a next-generation sequencing gene panel for primary immunodeficiency diagnostics.

Authors:  W Rae; D Ward; C Mattocks; R J Pengelly; E Eren; S V Patel; S N Faust; D Hunt; A P Williams
Journal:  Clin Genet       Date:  2018-02-02       Impact factor: 4.438

4.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

5.  Analysis of protein-coding genetic variation in 60,706 humans.

Authors:  Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2016-08-18       Impact factor: 49.962

Review 6.  Adenosine deaminase deficiency: a review.

Authors:  Aisling M Flinn; Andrew R Gennery
Journal:  Orphanet J Rare Dis       Date:  2018-04-24       Impact factor: 4.123
  6 in total

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