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American Journal of Human Genetics|September 13, 2016
Bi-allelic Mutations in PKD1L1 Are Associated with Laterality Defects in HumansFrancesco Vetrini, Lisa C A D'Alessandro, Zeynep C Akdemir, et al.Journal of Alzheimer'S Disease : JAD|April 23, 2026
Whole genome sequencing analysis of over 3500 individuals dementia-free over 85 years oldGina M Peloso, Dongyu Wang, Sabrina M Abbruzzese, et al.Biorxiv : the Preprint Server for Biology|July 10, 2026
Unveiling the Hidden Rules: Enhancing NMD Prediction for Protein-Truncating VariantsIman Egab, Jacob Schmidt, Michael Cortázar, et al.Human Molecular Genetics|April 5, 2018
The role of FREM2 and FRAS1 in the development of congenital diaphragmatic herniaValerie K Jordan, Tyler F Beck, Andres Hernandez-Garcia, et al.American Journal of Human Genetics|January 24, 2012
Mutations in KAT6B, encoding a histone acetyltransferase, cause Genitopatellar syndromePhilippe M Campeau, Jaeseung C Kim, James T Lu, et al.European Journal of Human Genetics : EJHG|February 11, 2016
Association of the IGF1 gene with fasting insulin levelsSara M Willems, Belinda K Cornes, Jennifer A Brody, et al.Genome Medicine|October 28, 2022
The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variationHaowei Du, Angad Jolly, Christopher M Grochowski, et al.Medrxiv : the Preprint Server for Health Sciences|April 2, 2024
Closing the gap: Solving complex medically relevant genes at scaleMedhat Mahmoud, John Harting, Holly Corbitt, et al.HGG Advances|March 5, 2021
Germline mutation in <i>POLR2A</i>: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulationAdam W Hansen, Payal Arora, Michael M Khayat, et al.Proceedings of the National Academy of Sciences of the United States of America|September 6, 2012
Epistasis dominates the genetic architecture of Drosophila quantitative traitsWen Huang, Stephen Richards, Mary Anna Carbone, et al.Pageof 117