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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 3, 2022
Estimating diagnostic noise in panel-based genomic analysis
Robin N Beaumont, Caroline F Wright
Genome Medicine
|
October 7, 2025
Reply to: 'Predicted loss-of-function variants before Met584 in ARID1B in population cohorts likely reflect reduced penetrance and should be reported diagnostically'
Caroline F Wright, Robin N Beaumont
Genome Medicine
|
April 26, 2024
Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance
Robin N Beaumont, Gareth Hawkes, Adam C Gunning, et al.
Current Diabetes Reports
|
March 16, 2017
How Can Genetic Studies Help Us to Understand Links Between Birth Weight and Type 2 Diabetes?
Robin N Beaumont, Momoko Horikoshi, Mark I McCarthy, et al.
Frontiers in Genetics
|
June 28, 2019
The Effect of Genetic Variation on the Placental Transcriptome in Humans
Triin Kikas, Kristiina Rull, Robin N Beaumont, et al.
Human Molecular Genetics
|
March 8, 2021
Common genetic variants with fetal effects on birth weight are enriched for proximity to genes implicated in rare developmental disorders
Robin N Beaumont, Isabelle K Mayne, Rachel M Freathy, et al.
Scientific Reports
|
March 27, 2026
Genetic score associations with birthweight in preterm-born infants compared with term-born infants
Robin N Beaumont, Sarah J Kotecha, Shannon J Simpson, et al.
Briefings in Bioinformatics
|
March 9, 2026
Impact of control selection strategies on GWAS results: a study of prostate cancer in the UK Biobank
Jingzhan Lu, Johan H Thygesen, Robin N Beaumont, et al.
Nature Genetics
|
April 18, 2024
Genetic modifiers of rare variants in monogenic developmental disorder loci
Rebecca Kingdom, Robin N Beaumont, Andrew R Wood, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 20, 2025
Genetic score associations with birthweight in preterm-born infants compared with term-born infants
Robin N Beaumont, Sarah J Kotecha, Shannon J Simpson, et al.
Page
of 12
Search research articles
Search
Showing results (1-10 of 114) with videos related to
Sort By:
Page
of 12
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 3, 2022
Estimating diagnostic noise in panel-based genomic analysis
Robin N Beaumont, Caroline F Wright
Genome Medicine
|
October 7, 2025
Reply to: 'Predicted loss-of-function variants before Met584 in ARID1B in population cohorts likely reflect reduced penetrance and should be reported diagnostically'
Caroline F Wright, Robin N Beaumont
Genome Medicine
|
April 26, 2024
Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance
Robin N Beaumont, Gareth Hawkes, Adam C Gunning, et al.
Current Diabetes Reports
|
March 16, 2017
How Can Genetic Studies Help Us to Understand Links Between Birth Weight and Type 2 Diabetes?
Robin N Beaumont, Momoko Horikoshi, Mark I McCarthy, et al.
Frontiers in Genetics
|
June 28, 2019
The Effect of Genetic Variation on the Placental Transcriptome in Humans
Triin Kikas, Kristiina Rull, Robin N Beaumont, et al.
Human Molecular Genetics
|
March 8, 2021
Common genetic variants with fetal effects on birth weight are enriched for proximity to genes implicated in rare developmental disorders
Robin N Beaumont, Isabelle K Mayne, Rachel M Freathy, et al.
Scientific Reports
|
March 27, 2026
Genetic score associations with birthweight in preterm-born infants compared with term-born infants
Robin N Beaumont, Sarah J Kotecha, Shannon J Simpson, et al.
Briefings in Bioinformatics
|
March 9, 2026
Impact of control selection strategies on GWAS results: a study of prostate cancer in the UK Biobank
Jingzhan Lu, Johan H Thygesen, Robin N Beaumont, et al.
Nature Genetics
|
April 18, 2024
Genetic modifiers of rare variants in monogenic developmental disorder loci
Rebecca Kingdom, Robin N Beaumont, Andrew R Wood, et al.
Medrxiv : the Preprint Server for Health Sciences
|
February 20, 2025
Genetic score associations with birthweight in preterm-born infants compared with term-born infants
Robin N Beaumont, Sarah J Kotecha, Shannon J Simpson, et al.
Page
of 12