Associated Papers
Rare-variant aggregation highlights disease-linked genes associated with brain volume variation.
Wightman DP et al.
American Journal of Human Genetics, 2026
Rare genetic variation in fibronectin 1 (FN1) protects against APOEε4 in Alzheimer's disease.
Bhattarai P et al.
Acta Neuropathologica, 2024
38598053 (PubMed )
Supplement: 401_2024_2721_MOESM5_ESM.xlsx › S_Table_1
Revisiting the Population Genetics of Human Height.
Rotwein P
Journal of the Endocrine Society, 2020
Understanding mutational effects in digenic diseases.
Gazzo A et al.
Nucleic Acids Research, 2017
28911095 (PubMed )
Supplement: gkx557_supp.zip › nar-00132-met-n-2017-File009.pdf
Complex mode of inheritance in holoprosencephaly revealed by whole exome sequencing.
Mouden C et al.
Clinical Genetics, 2016
Molecular pathogenesis of congenital diaphragmatic hernia revealed by exome sequencing, developmental data, and bioinformatics.
Longoni M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2014
Characterization of the chromosome 1q41q42.12 region, and the candidate gene DISP1, in patients with CDH.
Kantarci S et al.
American Journal of Medical Genetics. Part A, 2010
Select a paper to view details