Associated Papers
Three Unrelated Children With Childhood Apraxia of Speech: Exome Sequencing and Functional Gene Analysis Imply a Role of Laminin-511 in Early Neurodevelopment.
Raaz C et al.
Case Reports in Genetics, 2026
Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease.
Rubino E et al.
Alzheimer's Research & Therapy, 2025
39810256 (PubMed )
Supplement: 13195_2024_1661_MOESM2_ESM.xlsx › Suppl._Table_2
Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.
Patiño-García A et al.
Ebiomedicine, 2024
38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Elife, 2024
38277211 (PubMed )
Supplement: elife-89762-supp1.xlsx › Variants
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis.
Yu H et al.
Biorxiv : the Preprint Server for Biology, 2023
37292598 (PubMed )
Supplement: media-1.xlsx › Variants
Genome-wide association meta-analysis identifies risk loci for abdominal aortic aneurysm and highlights PCSK9 as a therapeutic target.
Roychowdhury T et al.
Nature Genetics, 2023
37845353 (PubMed )
Supplement: 41588_2023_1510_MOESM4_ESM.xls › S2
A genome-wide meta-analysis identifies 50 genetic loci associated with carpal tunnel syndrome.
Skuladottir AT et al.
Nature Communications, 2022
35332129 (PubMed )
Supplement: 41467_2022_29133_MOESM4_ESM.xlsx › Supp._Data_1
Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.
Tachmazidou I et al.
American Journal of Human Genetics, 2017
Epigenetic and genetic components of height regulation.
Benonisdottir S et al.
Nature Communications, 2016
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