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Robin N Beaumont

Showing results (1-10 of 114) with videos related to

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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 analysisRobin 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 penetranceRobin 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 HumansTriin 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 disordersRobin 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 infantsRobin 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 BiobankJingzhan Lu, Johan H Thygesen, Robin N Beaumont, et al.
Nature Genetics|April 18, 2024
Genetic modifiers of rare variants in monogenic developmental disorder lociRebecca 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 infantsRobin N Beaumont, Sarah J Kotecha, Shannon J Simpson, et al.
Pageof 12

Showing results (1-10 of 114) with videos related to

Sort By:
Pageof 12
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 3, 2022
Estimating diagnostic noise in panel-based genomic analysisRobin 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 penetranceRobin 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 HumansTriin 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 disordersRobin 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 infantsRobin 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 BiobankJingzhan Lu, Johan H Thygesen, Robin N Beaumont, et al.
Nature Genetics|April 18, 2024
Genetic modifiers of rare variants in monogenic developmental disorder lociRebecca 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 infantsRobin N Beaumont, Sarah J Kotecha, Shannon J Simpson, et al.
Pageof 12