Literature DB >> 26540381

Model network: Canadian program aims to generate models for rare disease.

Katherine Ellen Foley.   

Abstract

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Year:  2015        PMID: 26540381     DOI: 10.1038/nm1115-1242

Source DB:  PubMed          Journal:  Nat Med        ISSN: 1078-8956            Impact factor:   53.440


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  7 in total

1.  Exome Sequencing and the Management of Neurometabolic Disorders.

Authors:  Maja Tarailo-Graovac; Casper Shyr; Colin J Ross; Gabriella A Horvath; Ramona Salvarinova; Xin C Ye; Lin-Hua Zhang; Amit P Bhavsar; Jessica J Y Lee; Britt I Drögemöller; Mena Abdelsayed; Majid Alfadhel; Linlea Armstrong; Matthias R Baumgartner; Patricie Burda; Mary B Connolly; Jessie Cameron; Michelle Demos; Tammie Dewan; Janis Dionne; A Mark Evans; Jan M Friedman; Ian Garber; Suzanne Lewis; Jiqiang Ling; Rupasri Mandal; Andre Mattman; Margaret McKinnon; Aspasia Michoulas; Daniel Metzger; Oluseye A Ogunbayo; Bojana Rakic; Jacob Rozmus; Peter Ruben; Bryan Sayson; Saikat Santra; Kirk R Schultz; Kathryn Selby; Paul Shekel; Sandra Sirrs; Cristina Skrypnyk; Andrea Superti-Furga; Stuart E Turvey; Margot I Van Allen; David Wishart; Jiang Wu; John Wu; Dimitrios Zafeiriou; Leo Kluijtmans; Ron A Wevers; Patrice Eydoux; Anna M Lehman; Hilary Vallance; Sylvia Stockler-Ipsiroglu; Graham Sinclair; Wyeth W Wasserman; Clara D van Karnebeek
Journal:  N Engl J Med       Date:  2016-05-25       Impact factor: 91.245

Review 2.  Genes and molecular pathways underpinning ciliopathies.

Authors:  Jeremy F Reiter; Michel R Leroux
Journal:  Nat Rev Mol Cell Biol       Date:  2017-07-12       Impact factor: 94.444

3.  Philip Hieter: 2018 George W. Beadle Award.

Authors:  Nicole Haloupek
Journal:  Genetics       Date:  2018-10       Impact factor: 4.562

4.  The Impact of Next-Generation Sequencing on the Diagnosis, Treatment, and Prevention of Hereditary Neuromuscular Disorders.

Authors:  Sarah J Beecroft; Phillipa J Lamont; Samantha Edwards; Hayley Goullée; Mark R Davis; Nigel G Laing; Gianina Ravenscroft
Journal:  Mol Diagn Ther       Date:  2020-09-30       Impact factor: 4.074

5.  International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.

Authors:  Kym M Boycott; Ana Rath; Jessica X Chong; Taila Hartley; Fowzan S Alkuraya; Gareth Baynam; Anthony J Brookes; Michael Brudno; Angel Carracedo; Johan T den Dunnen; Stephanie O M Dyke; Xavier Estivill; Jack Goldblatt; Catherine Gonthier; Stephen C Groft; Ivo Gut; Ada Hamosh; Philip Hieter; Sophie Höhn; Matthew E Hurles; Petra Kaufmann; Bartha M Knoppers; Jeffrey P Krischer; Milan Macek; Gert Matthijs; Annie Olry; Samantha Parker; Justin Paschall; Anthony A Philippakis; Heidi L Rehm; Peter N Robinson; Pak-Chung Sham; Rumen Stefanov; Domenica Taruscio; Divya Unni; Megan R Vanstone; Feng Zhang; Han Brunner; Michael J Bamshad; Hanns Lochmüller
Journal:  Am J Hum Genet       Date:  2017-05-04       Impact factor: 11.025

6.  The role of the clinician in the multi-omics era: are you ready?

Authors:  Clara D M van Karnebeek; Saskia B Wortmann; Maja Tarailo-Graovac; Mirjam Langeveld; Carlos R Ferreira; Jiddeke M van de Kamp; Carla E Hollak; Wyeth W Wasserman; Hans R Waterham; Ron A Wevers; Tobias B Haack; Ronald J A Wanders; Kym M Boycott
Journal:  J Inherit Metab Dis       Date:  2018-01-23       Impact factor: 4.982

Review 7.  How Surrogate and Chemical Genetics in Model Organisms Can Suggest Therapies for Human Genetic Diseases.

Authors:  Katherine A Strynatka; Michelle C Gurrola-Gal; Jason N Berman; Christopher R McMaster
Journal:  Genetics       Date:  2018-03       Impact factor: 4.562

  7 in total

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