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Research Highlights | 2 December 2020
Exome sequencing for diagnosing uncommon paediatric neuromuscular disease
- Isobel Leake
Nature Reviews Neurology 17 , 2–2

Rights & permissionsfor article Exome sequencing for diagnosing uncommon paediatric neuromuscular disease . Opens in a new window.
News and Views | 20 July 2020
Genetic risk scores in inflammatory arthritis: a new era?
- Matthew A. Brown
- & Daniel Aletaha
Nature Reviews Rheumatology 16 , 545–546

Rights & permissionsfor article Genetic risk scores in inflammatory arthritis: a new era? . Opens in a new window.
Comments and Opinion | 10 July 2020
The changing approach for identifying hereditary colorectal cancer syndromes
- Luigi Laghi
- & Luigi Ricciardiello
Nature Reviews Gastroenterology & Hepatology 17 , 593–594

Rights & permissionsfor article The changing approach for identifying hereditary colorectal cancer syndromes . Opens in a new window.
Comments and Opinion | 29 June 2020
How digital tools can advance quality and equity in genomic medicine
- Yvonne Bombard
- & Robin Z. Hayeems
Nature Reviews Genetics 21 , 505–506

Rights & permissionsfor article How digital tools can advance quality and equity in genomic medicine . Opens in a new window.
Correspondence | 15 June 2020
COVID-19 in allogeneic stem cell transplant: high false-negative probability and role of CRISPR and convalescent plasma
- Alex Niu
- , April McDougal
- , Bo Ning
- , Firas Safa
- , Alfred Luk
- , David M. Mushatt
- , Adeem Nachabe
- , Kevin J. Zwezdaryk
- , James Robinson
- , Tim Peterson
- , Francisco Socola
- , Hana Safah
- , Tony Hu
- & Nakhle S. Saba
Bone Marrow Transplantation 55 , 2354–2356

Rights & permissionsfor article COVID-19 in allogeneic stem cell transplant: high false-negative probability and role of CRISPR and convalescent plasma . Opens in a new window.
Editorial | 6 May 2020

Tracking genetic discrimination

Nature Genetics 52 , 465–465

Rights & permissionsfor article Tracking genetic discrimination . Opens in a new window.
Comments and Opinion | 1 May 2020
The ethics of genetic testing for kidney diseases
- Maya Sabatello
- & Hila Milo Rasouly
Nature Reviews Nephrology 16 , 619–620

Rights & permissionsfor article The ethics of genetic testing for kidney diseases . Opens in a new window.
Correspondence | 5 May 2020 | Open
NARASIMHA: Novel Assay based on Targeted RNA Sequencing to Identify ChiMeric Gene Fusions in Hematological Malignancies
- Nikhil Patkar
- , Prasanna Bhanshe
- , Sweta Rajpal
- , Swapnali Joshi
- , Shruti Chaudhary
- , Gaurav Chatterjee
- , Prashant Tembhare
- , Chetan Dhamne
- , Maya Prasad
- , Nirmalya Roy Moulik
- , Dhanalaxmi Shetty
- , Anant Gokarn
- , Avinash Bonda
- , Lingaraj Nayak
- , Sachin Punatkar
- , Bhausaheb Bagal
- , Manju Sengar
- , Gaurav Narula
- , Navin Khattry
- , Shripad Banavali
- , P. G. Subramanian
- & Sumeet Gujral
Blood Cancer Journal 10 , 1–4

Rights & permissionsfor article NARASIMHA: Novel Assay based on Targeted RNA Sequencing to Identify ChiMeric Gene Fusions in Hematological Malignancies . Opens in a new window.
Research Highlights | 10 February 2020
Reappraisal of LQTS-causing genes
- Gregory B. Lim
Nature Reviews Cardiology 17 , 200–201

Rights & permissionsfor article Reappraisal of LQTS-causing genes . Opens in a new window.
Comments and Opinion | 28 January 2020
Selling direct-to-consumer epigenetic tests: are we ready?
Nature Reviews Genetics 21 , 335–336

Rights & permissionsfor article Selling direct-to-consumer epigenetic tests: are we ready? . Opens in a new window.
Correspondence | 17 February 2020
Reply to C.D. Richter
- Johnathon Liddicoat
- , Kathleen Liddell
- , Arlie H. McCarthy
- , Stuart Hogarth
- , Mateo Aboy
- , Dianne Nicol
- , Simon Patton
- & Michael M. Hopkins
European Journal of Human Genetics 28 , 537–538

Rights & permissionsfor article Reply to C.D. Richter . Opens in a new window.
Editorial | 21 January 2020
A message for 2020
- Naomichi Matsumoto
Journal of Human Genetics 65 , 351–353

Rights & permissionsfor article A message for 2020 . Opens in a new window.
News and Views | 23 December 2019
Paternal sperm DNA mosaicism and recurrence risk of autism in families
- Eric M. Morrow
Nature Medicine 26 , 26–28

Rights & permissionsfor article Paternal sperm DNA mosaicism and recurrence risk of autism in families . Opens in a new window.
Comments and Opinion | 13 January 2020
When variants are reclassified—the importance of personalized communication
- Madison K. Kilbride
Nature Medicine 26 , 15–15

Rights & permissionsfor article When variants are reclassified—the importance of personalized communication . Opens in a new window.
Comments and Opinion | 25 November 2019
Returning incidental findings in African genomics research
- Ambroise Wonkam
- & Jantina de Vries
Nature Genetics 52 , 17–20

Rights & permissionsfor article Returning incidental findings in African genomics research . Opens in a new window.
Correspondence | 11 December 2019
Reply to: “Development of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patient”
- Pilar Mur
- , Claire Palles
- , Ian Tomlinson
- & Laura Valle
Journal of Human Genetics 65 , 513–514

Rights & permissionsfor article Reply to: “Development of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patient” . Opens in a new window.
Research Highlights | 1 November 2019
cfDNA monitoring is feasible in SCLC
- Peter Sidaway
Nature Reviews Clinical Oncology 17 , 7–7

Rights & permissionsfor article cfDNA monitoring is feasible in SCLC . Opens in a new window.
Research Highlights | 16 September 2019
Reduced bleeding with genotype-guided antiplatelet therapy
- Gregory B. Lim
Nature Reviews Cardiology 16 , 646–647

Rights & permissionsfor article Reduced bleeding with genotype-guided antiplatelet therapy . Opens in a new window.
Correspondence | 16 September 2019 | Open
Sequencing results from multiple individuals of different ethnicities strongly question the existence of the KCNE1B pseudogene
European Journal of Human Genetics 28 , 401–402

Rights & permissionsfor article Sequencing results from multiple individuals of different ethnicities strongly question the existence of the <i>KCNE1B</i> pseudogene . Opens in a new window.
Correspondence | 24 September 2019
Using facial analysis technology in a typical genetic clinic: experience from 30 individuals from a single institution
Journal of Human Genetics 64 , 1243–1245

Rights & permissionsfor article Using facial analysis technology in a typical genetic clinic: experience from 30 individuals from a single institution . Opens in a new window.
Research Highlights | 25 April 2019
Keeping score with obesity
- Darren J. Burgess
Nature Reviews Genetics 20 , 320–321

Rights & permissionsfor article Keeping score with obesity . Opens in a new window.
News and Views | 3 June 2019
The hidden cost of genetic resistance to HIV-1
- Jeremy Luban
Nature Medicine 25 , 878–879

Rights & permissionsfor article The hidden cost of genetic resistance to HIV-1 . Opens in a new window.
Comments and Opinion | 13 February 2019
Expanded reproductive carrier screening—how can we do the most good and cause the least harm?
European Journal of Human Genetics 27 , 669–670

Rights & permissionsfor article Expanded reproductive carrier screening—how can we do the most good and cause the least harm? . Opens in a new window.
Research Highlights | 8 March 2019
Genetic variant associated with stroke outcomes
- Rebecca Kelsey
Nature Reviews Neurology 15 , 188–188

Rights & permissionsfor article Genetic variant associated with stroke outcomes . Opens in a new window.
News and Views | 25 February 2019
Expanded non-invasive prenatal diagnostics
- Nancy B. Spinner
- & Ian D. Krantz
Nature Medicine 25 , 361–362

Rights & permissionsfor article Expanded non-invasive prenatal diagnostics . Opens in a new window.
Comments and Opinion | 14 March 2019
Balancing uncertainty with patient autonomy in precision medicine
Nature Reviews Genetics 20 , 251–252

Rights & permissionsfor article Balancing uncertainty with patient autonomy in precision medicine . Opens in a new window.
Research Highlights | 16 January 2019
Baby sequencing steps
- Linda Koch
Nature Reviews Genetics 20 , 133–133

Rights & permissionsfor article Baby sequencing steps . Opens in a new window.
Comments and Opinion | 1 April 2019
The potential presence of the highly similar paralogue gene KCNE1B blurs the genetic basis of KCNE1-LQTS patients
European Journal of Human Genetics 27 , 1175–1177

Rights & permissionsfor article The potential presence of the highly similar paralogue gene <i>KCNE1B</i> blurs the genetic basis of KCNE1-LQTS patients . Opens in a new window.
News and Views | 4 March 2019
Alzheimer disease risk genes: 29 and counting
- Lars Bertram
- & Rudolph E. Tanzi
Nature Reviews Neurology 15 , 191–192

Rights & permissionsfor article Alzheimer disease risk genes: 29 and counting . Opens in a new window.
Correspondence | 18 January 2019
Reply to Bombard and Mighton
European Journal of Human Genetics 27 , 507–508

Rights & permissionsfor article Reply to Bombard and Mighton . Opens in a new window.
Comments and Opinion | 1 April 2019
A duty to recontact in genetics: context matters
Nature Reviews Genetics 20 , 371–372

Rights & permissionsfor article A duty to recontact in genetics: context matters . Opens in a new window.
Correspondence | 26 February 2019
Time for a change and to adopt a novel molecular genomic approach in NETs
- Lisa Bodei
- , Eric Liu
- , Scott Paulson
- , Anthony Gulati
- , Jon Freudman
- , William Grosh
- , Sheldon Kafer
- , Prasanna C. Wickremesinghe
- & Ronald R. Salem
Nature Reviews Clinical Oncology 16 , 269–270

Rights & permissionsfor article Time for a change and to adopt a novel molecular genomic approach in NETs . Opens in a new window.
Correspondence | 18 April 2019
Comparing health-related quality of life in chronic diseases: the importance of analyzing references
- Christine Maynié-François
- & Stéphane Burtey
Nature Reviews Disease Primers 5 , 1–1

Rights & permissionsfor article Comparing health-related quality of life in chronic diseases: the importance of analyzing references . Opens in a new window.
News and Views | 22 March 2019
Introducing routine genetic testing for patients with CKD
- Asaf Vivante
- & Karl Skorecki
Nature Reviews Nephrology 15 , 321–322

Rights & permissionsfor article Introducing routine genetic testing for patients with CKD . Opens in a new window.
Correspondence | 18 April 2019
Health-related quality of life in sickle cell disease
Nature Reviews Disease Primers 5 , 1–1

Rights & permissionsfor article Health-related quality of life in sickle cell disease . Opens in a new window.
Correspondence | 26 February 2019
Reply to ‘Time for a change and to adopt a novel molecular genomic approach in NETs’
- Guido Rindi
- & Bertram Wiedenmann
Nature Reviews Clinical Oncology 16 , 270–270

Rights & permissionsfor article Reply to ‘Time for a change and to adopt a novel molecular genomic approach in NETs’ . Opens in a new window.
Correspondence | 4 March 2019 | Open
Federated discovery and sharing of genomic data using Beacons
- Marc Fiume
- , Miroslav Cupak
- , Stephen Keenan
- , Jordi Rambla
- , Sabela de la Torre
- , Stephanie O. M. Dyke
- , Anthony J. Brookes
- , Knox Carey
- , David Lloyd
- , Peter Goodhand
- , Maximilian Haeussler
- , Michael Baudis
- , Heinz Stockinger
- , Lena Dolman
- , Ilkka Lappalainen
- , Juha Törnroos
- , Mikael Linden
- , J. Dylan Spalding
- , Saif Ur-Rehman
- , Angela Page
- , Paul Flicek
- , Stephen Sherry
- , David Haussler
- , Susheel Varma
- , Gary Saunders
- & Serena Scollen
Nature Biotechnology 37 , 220–224

Rights & permissionsfor article Federated discovery and sharing of genomic data using Beacons . Opens in a new window.
Comments and Opinion | 29 November 2018
The value of genetic testing for family health history of adopted persons
- Thomas May
Nature Reviews Genetics 20 , 65–66

Rights & permissionsfor article The value of genetic testing for family health history of adopted persons . Opens in a new window.
Comments and Opinion | 25 September 2018
The recognition of the profession of Genetic Counsellors in Europe
- Christophe Cordier
- , Marion McAllister
- , Clara Serra-Juhe
- , Joana Bengoa
- , Sara Pasalodos
- , Inga Bjornevoll
- , Irène Feroce
- , Ramona Moldovan
- , Milena Paneque
- & Debby Lambert
European Journal of Human Genetics 26 , 1719–1720

Rights & permissionsfor article The recognition of the profession of Genetic Counsellors in Europe . Opens in a new window.
Comments and Opinion | 3 October 2018
The importance of genetic counselling in genome-wide sequencing
- Alison M. Elliott
- & Jan M. Friedman
Nature Reviews Genetics 19 , 735–736

Rights & permissionsfor article The importance of genetic counselling in genome-wide sequencing . Opens in a new window.
Correspondence | 19 December 2018
Recontacting clinical genetics patients with reclassified results: equity and policy challenges
- Yvonne Bombard
- & Chloe Mighton
European Journal of Human Genetics 27 , 505–506

Rights & permissionsfor article Recontacting clinical genetics patients with reclassified results: equity and policy challenges . Opens in a new window.
Research Highlights | 3 September 2018
Mesothelioma risk genes revealed
- Peter Sidaway
Nature Reviews Clinical Oncology 15 , 655–655

Rights & permissionsfor article Mesothelioma risk genes revealed . Opens in a new window.
News and Views | 2 November 2018
Neuroendocrine neoplasia goes molecular — time for a change
- Guido Rindi
- & Bertram Wiedenmann
Nature Reviews Clinical Oncology 16 , 149–150

Rights & permissionsfor article Neuroendocrine neoplasia goes molecular — time for a change . Opens in a new window.
News and Views | 2 October 2018
Genome-wide polygenic risk predictors for kidney disease
- Lili Liu
- & Krzysztof Kiryluk
Nature Reviews Nephrology 14 , 723–724

Rights & permissionsfor article Genome-wide polygenic risk predictors for kidney disease . Opens in a new window.
News and Views | 1 June 2018
Inflated pathogenic variant profiles in the ClinVar database
- Rodrigo A. Toledo
Nature Reviews Endocrinology 14 , 387–389

Rights & permissionsfor article Inflated pathogenic variant profiles in the ClinVar database . Opens in a new window.
Research Highlights | 27 July 2018
Whole-genome sequencing for HCM screening
- Irene Fernandez-Ruiz
Nature Reviews Cardiology 15 , 582–582

Rights & permissionsfor article Whole-genome sequencing for HCM screening . Opens in a new window.
Comments and Opinion | 22 May 2018
First-line genomic diagnosis of mitochondrial disorders
Nature Reviews Genetics 19 , 399–400

Rights & permissionsfor article First-line genomic diagnosis of mitochondrial disorders . Opens in a new window.
Comments and Opinion | 26 March 2018
The ethics of patenting autism genes
- Kristien Hens
- , Ilse Noens
- , Hilde Peeters
- & Jean Steyaert
Nature Reviews Genetics 19 , 247–248

Rights & permissionsfor article The ethics of patenting autism genes . Opens in a new window.
Comments and Opinion | 22 May 2018
More than an information service: are counselling skills needed by genetics professionals in the genomic era?
- Heather Skirton
European Journal of Human Genetics 26 , 1239–1240

Rights & permissionsfor article More than an information service: are counselling skills needed by genetics professionals in the genomic era? . Opens in a new window.
Correspondence | 15 February 2018 | Open
Incidental inequity
European Journal of Human Genetics 26 , 616–617

Rights & permissionsfor article Incidental inequity . Opens in a new window.

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