Literature DB >> 27075170

The 100,000 Genomes Project.

Mark Peplow.   

Abstract

Mesh：

Year:  2016        PMID： 27075170     DOI： 10.1136/bmj.i1757

Source DB:  PubMed          Journal:  BMJ        ISSN： 0959-8138


× No keyword cloud information.
  24 in total

1.  Public Attitudes Toward Precision Medicine: A Nationwide Survey on Developing a National Cohort Program for Citizen Participation in the Republic of Korea.

Authors:  Hannah Kim; Hye Ryun Kim; Sumin Kim; Eugene Kim; So Yoon Kim; Hyun-Young Park
Journal:  Front Genet       Date:  2020-05-12       Impact factor: 4.599

2.  How Primary Care Providers Talk to Patients about Genome Sequencing Results: Risk, Rationale, and Recommendation.

Authors:  Jason L Vassy; J Kelly Davis; Christine Kirby; Ian J Richardson; Robert C Green; Amy L McGuire; Peter A Ubel
Journal:  J Gen Intern Med       Date:  2018-01-26       Impact factor: 5.128

3.  Guidelines for reporting secondary findings of genome sequencing in cancer genes: the SFMPP recommendations.

Authors:  Pascal Pujol; Pierre Vande Perre; Laurence Faivre; Damien Sanlaville; Carole Corsini; Bernard Baertschi; Michèle Anahory; Dominique Vaur; Sylviane Olschwang; Nadem Soufir; Noëlle Bastide; Sarah Amar; Michèle Vintraud; Olivier Ingster; Stéphane Richard; Pierre Le Coz; Jean-Philippe Spano; Olivier Caron; Pascal Hammel; Elisabeth Luporsi; Alain Toledano; Xavier Rebillard; Anne Cambon-Thomsen; Olivier Putois; Jean-Marc Rey; Christian Hervé; Caroline Zorn; Karen Baudry; Virginie Galibert; Joseph Gligorov; David Azria; Brigitte Bressac-de Paillerets; Nelly Burnichon; Marc Spielmann; Daniel Zarca; Isabelle Coupier; Olivier Cussenot; Anne-Paule Gimenez-Roqueplo; Sophie Giraud; Anne-Sophie Lapointe; Patricia Niccoli; Isabelle Raingeard; Muriel Le Bidan; Thierry Frebourg; Arash Rafii; David Geneviève
Journal:  Eur J Hum Genet       Date:  2018-08-08       Impact factor: 4.246

Review 4.  Drug repurposing: progress, challenges and recommendations.

Authors:  Sudeep Pushpakom; Francesco Iorio; Patrick A Eyers; K Jane Escott; Shirley Hopper; Andrew Wells; Andrew Doig; Tim Guilliams; Joanna Latimer; Christine McNamee; Alan Norris; Philippe Sanseau; David Cavalla; Munir Pirmohamed
Journal:  Nat Rev Drug Discov       Date:  2018-10-12       Impact factor: 84.694

5.  Toward a Tiered Model to Share Clinical Trial Data and Samples in Precision Oncology.

Authors:  Stefanie Broes; Denis Lacombe; Michiel Verlinden; Isabelle Huys
Journal:  Front Med (Lausanne)       Date:  2018-01-29

6.  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

Review 7.  Inherited platelet disorders: toward DNA-based diagnosis.

Authors:  Claire Lentaigne; Kathleen Freson; Michael A Laffan; Ernest Turro; Willem H Ouwehand
Journal:  Blood       Date:  2016-04-19       Impact factor: 25.476

8.  Pathogenic Huntingtin Repeat Expansions in Patients with Frontotemporal Dementia and Amyotrophic Lateral Sclerosis.

Authors:  Ramita Dewan; Ruth Chia; Jinhui Ding; Richard A Hickman; Thor D Stein; Yevgeniya Abramzon; Sarah Ahmed; Marya S Sabir; Makayla K Portley; Arianna Tucci; Kristina Ibáñez; F N U Shankaracharya; Pamela Keagle; Giacomina Rossi; Paola Caroppo; Fabrizio Tagliavini; Maria L Waldo; Per M Johansson; Christer F Nilsson; James B Rowe; Luisa Benussi; Giuliano Binetti; Roberta Ghidoni; Edwin Jabbari; Coralie Viollet; Jonathan D Glass; Andrew B Singleton; Vincenzo Silani; Owen A Ross; Mina Ryten; Ali Torkamani; Toshiko Tanaka; Luigi Ferrucci; Susan M Resnick; Stuart Pickering-Brown; Christopher B Brady; Neil Kowal; John A Hardy; Vivianna Van Deerlin; Jean Paul Vonsattel; Matthew B Harms; Huw R Morris; Raffaele Ferrari; John E Landers; Adriano Chiò; J Raphael Gibbs; Clifton L Dalgard; Sonja W Scholz; Bryan J Traynor
Journal:  Neuron       Date:  2020-11-26       Impact factor: 18.688

Review 9.  Challenges in the Setup of Large-scale Next-Generation Sequencing Analysis Workflows.

Authors:  Pranav Kulkarni; Peter Frommolt
Journal:  Comput Struct Biotechnol J       Date:  2017-10-25       Impact factor: 7.271

10.  Autosomal dominant tubulointerstitial kidney disease-UMOD is the most frequent non polycystic genetic kidney disease.

Authors:  Christine Gast; Anthony Marinaki; Monica Arenas-Hernandez; Sara Campbell; Eleanor G Seaby; Reuben J Pengelly; Daniel P Gale; Thomas M Connor; David J Bunyan; Kateřina Hodaňová; Martina Živná; Stanislav Kmoch; Sarah Ennis; G Venkat-Raman
Journal:  BMC Nephrol       Date:  2018-10-30       Impact factor: 2.388
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.