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Biorxiv : the Preprint Server for Biology|September 25, 2023
Whole Genome Sequencing Based Analysis of Inflammation Biomarkers in the Trans-Omics for Precision Medicine (TOPMed) ConsortiumMin-Zhi Jiang, Sheila M Gaynor, Xihao Li, et al.American Journal of Human Genetics|September 20, 2016
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological SyndromesTamar Harel, Wan Hee Yoon, Caterina Garone, et al.Cell Reports|April 5, 2018
The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell CarcinomaChristopher J Ricketts, Aguirre A De Cubas, Huihui Fan, et al.American Journal of Human Genetics|January 12, 2021
Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndromeNa Chen, Sen Zhao, Angad Jolly, et al.Medrxiv : the Preprint Server for Health Sciences|April 10, 2026
<i>PTPN1</i> -related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetranceDaniel G Calame, Emma K Wiener, Francesco Gavazzi, et al.Annals of Clinical and Translational Neurology|October 24, 2018
Phenotypic expansion in <i>DDX3X</i> - a common cause of intellectual disability in femalesXia Wang, Jennifer E Posey, Jill A Rosenfeld, et al.American Journal of Human Genetics|July 2, 2019
Paralog Studies Augment Gene Discovery: DDX and DHX GenesIngrid Paine, Jennifer E Posey, Christopher M Grochowski, et al.Cancer Cell|August 27, 2014
The somatic genomic landscape of chromophobe renal cell carcinomaCaleb F Davis, Christopher J Ricketts, Min Wang, et al.European Journal of Human Genetics : EJHG|September 7, 2017
Unraveling genetic predisposition to familial or early onset gastric cancer using germline whole-exome sequencingIngrid P Vogelaar, Rachel S van der Post, J Han Jm van Krieken, et al.Biorxiv : the Preprint Server for Biology|June 4, 2026
Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and DatasetBenjamin D Heavner, Marsha M Wheeler, Jesse D Bengtsson, et al.Pageof 117