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JAMA Oncology|April 21, 2022
Association of Pathogenic Variants in Hereditary Cancer Genes With Multiple DiseasesChenjie Zeng, Lisa A Bastarache, Ran Tao, et al.Nature Neuroscience|June 20, 2017
Hotspots of missense mutation identify neurodevelopmental disorder genes and functional domainsMadeleine R Geisheker, Gabriel Heymann, Tianyun Wang, et al.JAMIA Open|October 27, 2025
Implementing integrated genomic risk assessments for breast cancer: lessons learned from the Electronic Medical Records and Genomics studyCong Liu, Katherine D Crew, Jennifer Morse, et al.Medrxiv : the Preprint Server for Health Sciences|July 15, 2025
Implementing Integrated Genomic Risk Assessments for Breast Cancer: Lessons Learned from the eMERGE StudyCong Liu, Katherine Crew, Jennifer Morse, et al.American Journal of Medical Genetics. Part A|February 8, 2023
A mutational hotspot in AMOTL1 defines a new syndrome of orofacial clefting, cardiac anomalies, and tall statureAlanna Strong, Soumya Rao, Sandra von Hardenberg, et al.HGG Advances|January 31, 2025
Trans-ancestry genome-wide association study of childhood body mass index identifies novel loci and age-specific effectsCarolina G Downie, Poojan Shrestha, Samson Okello, et al.Medrxiv : the Preprint Server for Health Sciences|February 24, 2025
Variants in BSN, encoding the presynaptic protein Bassoon, result in a novel neurodevelopmental disorder with a broad phenotypic rangeStacy G Guzman, Sarah M Ruggiero, Shiva Ganesan, et al.Nature Communications|January 16, 2020
Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associationsYun Rose Li, Joseph T Glessner, Bradley P Coe, et al.HGG Advances|December 30, 2022
Erratum: Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphologyAndrew K Sobering, Laura M Bryant, Dong Li, et al.Plos Genetics|June 27, 2009
Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genesMaja Bucan, Brett S Abrahams, Kai Wang, et al.Pageof 91