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Hilary C Martin

Showing results (21-30 of 68) with videos related to

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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 disordersEugene 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 disordersOlivia 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 thalamusAlexander 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 variantsJenny 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 disordersPauline 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 cohortBenjamin M Jacobs, Daniel Stow, Sam Hodgson, et al.
Nature Communications|December 11, 2021
Fine-scale population structure and demographic history of British PakistanisElena 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 scoresTiming Liu, Alagu Sankareswaran, Gordon Paterson, et al.
Nature Genetics|June 2, 2022
Genetic correlates of phenotypic heterogeneity in autismVarun 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 individualsQin Qin Huang, Neneh Sallah, Diana Dunca, et al.
Pageof 7

Showing results (21-30 of 68) with videos related to

Sort By:
Pageof 7
American Journal of Human Genetics|October 9, 2021
Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disordersEugene 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 disordersOlivia 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 thalamusAlexander 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 variantsJenny 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 disordersPauline 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 cohortBenjamin M Jacobs, Daniel Stow, Sam Hodgson, et al.
Nature Communications|December 11, 2021
Fine-scale population structure and demographic history of British PakistanisElena 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 scoresTiming Liu, Alagu Sankareswaran, Gordon Paterson, et al.
Nature Genetics|June 2, 2022
Genetic correlates of phenotypic heterogeneity in autismVarun 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 individualsQin Qin Huang, Neneh Sallah, Diana Dunca, et al.
Pageof 7