Article · Journal · 2024

The impact of clinical genome sequencing in a global population with suspected rare genetic disease

Erin Thorpe, Taylor Williams, Chad Shaw, Evgenii Chekalin, Julia Ortega, Keisha Robinson and 58 more

The American Journal of Human Genetics

Open access · Hybrid
World top 10%
With a company
International · 8 countries

Read it 10.1016/j.ajhg.2024.05.006

Citations: 24from other works
Field-weighted impact: 8.161.00 is the world average for its field and year
Among its field: Top 10%by citations, against works of its field and year
Authors: 64from 37 institutions

Authors

64 authors across 37 institutions in 8 countries

Funded by

Association Européenne contre les Leucodystrophies
Biogen
Eli Lilly and Company
Gilead Sciences
Health Science Center, University of Tennessee
Ministero dell’Istruzione, dell’Università e della Ricerca
National Human Genome Research Institute
National Institute of Mental Health
National Institute of Neurological Disorders and Stroke
NextGenerationEU
Sanofi
Universidad Científica del Sur
Università degli Studi di Pavia

Countries on it

Also on it

Al Jalila Foundationnonprofit · AE
Ambry Genetics (United States)company · US
Baylor College of Medicineeducation · US
C2N Diagnostics (United States)company · US
Canterbury District Health Boardhealthcare · NZ
Centre Hospitalier Universitaire de Liègehealthcare · BE
Children's Hospital of Philadelphiafunder · US
EsSALUDother · PE
Fondazione Istituto Neurologico Nazionale Casimiro Mondinofacility · IT
Hospital Nacional Edgardo Rebagliati Martinshealthcare · PE
Illumina (United States)company · US
Indiana University School of Medicineeducation
Instituto Nacional de Ciencias Neurológicashealthcare
Instituto Nacional de Salud del Niño-San Borjahealthcare
Le Bonheur Children's Hospitalhealthcare · US
Medical College of Wisconsineducation · US
Miami Children's Hospitalhealthcare · US
Mohammed Bin Rashid University of Medicine and Health Scienceseducation · AE
Rady Children's Hospital-San Diegohealthcare · US
Rare Genomics Institutenonprofit · US
Rice Universityeducation · US
Sanford Children's Specialty Clinichealthcare · US
Sanford Healthnonprofit · US
Sanford USD Medical Centerhealthcare · US
St. Louis Children's Hospitalhealthcare · US
Texas Children's Hospitalfunder · US
UCSF Benioff Children's Hospitalhealthcare · US
Universidad Científica del Sureducation · PE
University of California San Diegoeducation · US
University of California, San Franciscoeducation · US
University of Paviaeducation · IT
University of Pennsylvaniaeducation · US
University of Tennessee Health Science Centereducation · US
Veracyte (United States)company · US
Washington University in St. Louiseducation · US

Fields

A work can sit in several, each with a score

Genomics and Rare DiseasesTopic
BRCA gene mutations in cancerTopic
Genetic factors in colorectal cancerTopic