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American Journal of Human Genetics
|
October 9, 2021
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders
Eugene J Gardner, Alejandro Sifrim, Sarah J Lindsay, et al.
Genome Medicine
|
October 31, 2025
Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders
Olivia Wootton, Patrick Campbell, Sarah Richardson, et al.
Biorxiv : the Preprint Server for Biology
|
November 24, 2025
A spatial transcriptomic atlas of autism-associated genes identifies convergence in the developing human thalamus
Alexander Aivazidis, Fani Memi, Koen Rademaker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 7, 2024
Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants
Jenny Lord, Carolina J Oquendo, Htoo A Wai, et al.
Clinical Immunology (Orlando, Fla.)
|
July 1, 2015
Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders
Pauline A van Schouwenburg, Emma E Davenport, Anne-Kathrin Kienzler, et al.
Nature Communications
|
October 16, 2024
Genetic architecture of routinely acquired blood tests in a British South Asian cohort
Benjamin M Jacobs, Daniel Stow, Sam Hodgson, et al.
Nature Communications
|
December 11, 2021
Fine-scale population structure and demographic history of British Pakistanis
Elena Arciero, Sufyan A Dogra, Daniel S Malawsky, et al.
Scientific Reports
|
January 13, 2025
Investigating misclassification of type 1 diabetes in a population-based cohort of British Pakistanis and Bangladeshis using polygenic risk scores
Timing Liu, Alagu Sankareswaran, Gordon Paterson, et al.
Nature Genetics
|
June 2, 2022
Genetic correlates of phenotypic heterogeneity in autism
Varun Warrier, Xinhe Zhang, Patrick Reed, et al.
Nature Communications
|
August 9, 2022
Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistani and Bangladeshi individuals
Qin Qin Huang, Neneh Sallah, Diana Dunca, et al.
Page
of 7
Search research articles
Search
Showing results (21-30 of 68) with videos related to
Sort By:
Page
of 7
American Journal of Human Genetics
|
October 9, 2021
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders
Eugene J Gardner, Alejandro Sifrim, Sarah J Lindsay, et al.
Genome Medicine
|
October 31, 2025
Investigating the interplay between prematurity and genetic variation in the context of rare developmental disorders
Olivia Wootton, Patrick Campbell, Sarah Richardson, et al.
Biorxiv : the Preprint Server for Biology
|
November 24, 2025
A spatial transcriptomic atlas of autism-associated genes identifies convergence in the developing human thalamus
Alexander Aivazidis, Fani Memi, Koen Rademaker, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 7, 2024
Noncoding variants are a rare cause of recessive developmental disorders in trans with coding variants
Jenny Lord, Carolina J Oquendo, Htoo A Wai, et al.
Clinical Immunology (Orlando, Fla.)
|
July 1, 2015
Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders
Pauline A van Schouwenburg, Emma E Davenport, Anne-Kathrin Kienzler, et al.
Nature Communications
|
October 16, 2024
Genetic architecture of routinely acquired blood tests in a British South Asian cohort
Benjamin M Jacobs, Daniel Stow, Sam Hodgson, et al.
Nature Communications
|
December 11, 2021
Fine-scale population structure and demographic history of British Pakistanis
Elena Arciero, Sufyan A Dogra, Daniel S Malawsky, et al.
Scientific Reports
|
January 13, 2025
Investigating misclassification of type 1 diabetes in a population-based cohort of British Pakistanis and Bangladeshis using polygenic risk scores
Timing Liu, Alagu Sankareswaran, Gordon Paterson, et al.
Nature Genetics
|
June 2, 2022
Genetic correlates of phenotypic heterogeneity in autism
Varun Warrier, Xinhe Zhang, Patrick Reed, et al.
Nature Communications
|
August 9, 2022
Transferability of genetic loci and polygenic scores for cardiometabolic traits in British Pakistani and Bangladeshi individuals
Qin Qin Huang, Neneh Sallah, Diana Dunca, et al.
Page
of 7