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Molecular Genetics & Genomic Medicine|July 31, 2020
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases NetworkHeidi Cope, Rebecca Spillmann, Jill A Rosenfeld, et al.Medrxiv : the Preprint Server for Health Sciences|November 28, 2024
Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approachArchana Rai, Jonathan Klonowski, Bo Yuan, et al.American Journal of Human Genetics|June 21, 2025
Genomic rare variant mechanisms for congenital cardiac laterality defect: A digenic model approachArchana Rai, Jonathan Klonowski, Bo Yuan, et al.Genome Medicine|December 31, 2025
An integrated platform for concurrent structural and single-nucleotide variants improves copy-number detection and reveals pathogenic alleles in undiagnosed Mendelian familiesHaowei Du, Ming Yin Lun, Lidiia Gagarina, et al.Medrxiv : the Preprint Server for Health Sciences|November 24, 2025
Constellation illuminates rare disease geneticsSiyuan Cheng, Qing Zhang, Xinchang Zheng, et al.Human Mutation|September 2, 2022
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanismVaruna Chander, Medhat Mahmoud, Jianhong Hu, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 14, 2020
Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditionsTomasz Gambin, Qian Liu, Justyna A Karolak, et al.The New England Journal of Medicine|December 14, 2016
Resolution of Disease Phenotypes Resulting from Multilocus Genomic VariationJennifer E Posey, Tamar Harel, Pengfei Liu, et al.American Journal of Medical Genetics. Part A|April 13, 2021
Heterozygous variants in SPTBN1 cause intellectual disability and autismJill A Rosenfeld, Rui Xiao, Mir Reza Bekheirnia, et al.American Journal of Medical Genetics. Part A|January 4, 2023
A biallelic frameshift indel in PPP1R35 as a cause of primary microcephalyMoez Dawood, Gulsen Akay, Tadahiro Mitani, et al.Pageof 20