Literature DB >> 31676867

PanelApp crowdsources expert knowledge to establish consensus diagnostic gene panels.

Antonio Rueda Martin1, Eleanor Williams1, Rebecca E Foulger1, Sarah Leigh1, Louise C Daugherty1, Olivia Niblock1, Ivone U S Leong1, Katherine R Smith1,2, Oleg Gerasimenko1, Eik Haraldsdottir1, Ellen Thomas1,3, Richard H Scott1, Emma Baple1,4,5, Arianna Tucci1, Helen Brittain1, Anna de Burca1,6, Kristina Ibañez1, Dalia Kasperaviciute1,2, Damian Smedley1,2, Mark Caulfield1,2, Augusto Rendon1,7, Ellen M McDonagh8,9.   

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Year:  2019        PMID： 31676867     DOI： 10.1038/s41588-019-0528-2

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  79 in total

1.  MendelVar: gene prioritisation at GWAS loci using phenotypic enrichment of mendelian disease genes.

Authors:  Sobczyk M K; Gaunt T R; Paternoster L
Journal:  Bioinformatics       Date:  2021-01-16       Impact factor: 6.937

Review 2.  A contemporary clinical approach to genetic testing for heritable hyperparathyroidism syndromes.

Authors:  Sunita M C De Sousa; Richard W Carroll; Alex Henderson; John Burgess; Roderick J Clifton-Bligh
Journal:  Endocrine       Date:  2021-11-13       Impact factor: 3.633

3.  Predicting causal genes from psychiatric genome-wide association studies using high-level etiological knowledge.

Authors:  Michael Wainberg; Daniele Merico; Matthew C Keller; Eric B Fauman; Shreejoy J Tripathy
Journal:  Mol Psychiatry       Date:  2022-04-11       Impact factor: 15.992

4.  Mitochondrial-nuclear cross-talk in the human brain is modulated by cell type and perturbed in neurodegenerative disease.

Authors:  Mina Ryten; Alan Hodgkinson; Aine Fairbrother-Browne; Aminah T Ali; Regina H Reynolds; Sonia Garcia-Ruiz; David Zhang; Zhongbo Chen
Journal:  Commun Biol       Date:  2021-11-04

Review 5.  Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution.

Authors:  Zornitza Stark; Rebecca E Foulger; Eleanor Williams; Bryony A Thompson; Chirag Patel; Sebastian Lunke; Catherine Snow; Ivone U S Leong; Arina Puzriakova; Louise C Daugherty; Sarah Leigh; Christopher Boustred; Olivia Niblock; Antonio Rueda-Martin; Oleg Gerasimenko; Kevin Savage; William Bellamy; Victor San Kho Lin; Roman Valls; Lavinia Gordon; Helen K Brittain; Ellen R A Thomas; Ana Lisa Taylor Tavares; Meriel McEntagart; Susan M White; Tiong Y Tan; Alison Yeung; Lilian Downie; Ivan Macciocca; Elena Savva; Crystle Lee; Ain Roesley; Paul De Fazio; Jane Deller; Zandra C Deans; Sue L Hill; Mark J Caulfield; Kathryn N North; Richard H Scott; Augusto Rendon; Oliver Hofmann; Ellen M McDonagh
Journal:  Am J Hum Genet       Date:  2021-07-29       Impact factor: 11.025

6.  MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes.

Authors:  M K Sobczyk; T R Gaunt; L Paternoster
Journal:  Bioinformatics       Date:  2021-04-09       Impact factor: 6.937

7.  Expanding the FDXR-Associated Disease Phenotype: Retinal Dystrophy Is a Recurrent Ocular Feature.

Authors:  Neringa Jurkute; Priya D Shanmugarajah; Marios Hadjivassiliou; Jenny Higgs; Miodrag Vojcic; Iain Horrocks; Yann Nadjar; Valerie Touitou; Guy Lenaers; Roy Poh; James Acheson; Anthony G Robson; F Lucy Raymond; Mary M Reilly; Patrick Yu-Wai-Man; Anthony T Moore; Andrew R Webster; Gavin Arno
Journal:  Invest Ophthalmol Vis Sci       Date:  2021-05-03       Impact factor: 4.799

8.  Shared heritability of human face and brain shape.

Authors:  Sahin Naqvi; Yoeri Sleyp; Hanne Hoskens; Karlijne Indencleef; Jeffrey P Spence; Rose Bruffaerts; Ahmed Radwan; Ryan J Eller; Stephen Richmond; Mark D Shriver; John R Shaffer; Seth M Weinberg; Susan Walsh; James Thompson; Jonathan K Pritchard; Stefan Sunaert; Hilde Peeters; Joanna Wysocka; Peter Claes
Journal:  Nat Genet       Date:  2021-04-05       Impact factor: 38.330

9.  Gitelman-Like Syndrome Caused by Pathogenic Variants in mtDNA.

Authors:  Daan Viering; Karl P Schlingmann; Marguerite Hureaux; Tom Nijenhuis; Andrew Mallett; Melanie M Y Chan; André van Beek; Albertien M van Eerde; Jean-Marie Coulibaly; Marion Vallet; Stéphane Decramer; Solenne Pelletier; Günter Klaus; Martin Kömhoff; Rolf Beetz; Chirag Patel; Mohan Shenoy; Eric J Steenbergen; Glenn Anderson; Ernie M H F Bongers; Carsten Bergmann; Daan Panneman; Richard J Rodenburg; Robert Kleta; Pascal Houillier; Martin Konrad; Rosa Vargas-Poussou; Nine V A M Knoers; Detlef Bockenhauer; Jeroen H F de Baaij
Journal:  J Am Soc Nephrol       Date:  2021-10-04       Impact factor: 10.121

Review 10.  Inherited Tubulopathies of the Kidney: Insights from Genetics.

Authors:  Mallory L Downie; Sergio C Lopez Garcia; Robert Kleta; Detlef Bockenhauer
Journal:  Clin J Am Soc Nephrol       Date:  2020-04-01       Impact factor: 8.237
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