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Nature Genetics|September 23, 2024
Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populationsV Kartik Chundru, Zhancheng Zhang, Klaudia Walter, et al.Biorxiv : the Preprint Server for Biology|April 22, 2024
The landscape of regional missense mutational intolerance quantified from 125,748 exomesKatherine R Chao, Lily Wang, Ruchit Panchal, et al.American Journal of Human Genetics|May 22, 2021
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanismsCaroline F Wright, Nicholas M Quaife, Laura Ramos-Hernández, et al.Nature|October 15, 2020
Evidence for 28 genetic disorders discovered by combining healthcare and research dataJoanna Kaplanis, Kaitlin E Samocha, Laurens Wiel, et al.Plos Genetics|April 18, 2013
Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controlsLi Liu, Aniko Sabo, Benjamin M Neale, et al.Nature|November 12, 2025
GREGoR: accelerating genomics for rare diseasesMoez Dawood, Ben Heavner, Marsha M Wheeler, et al.Medrxiv : the Preprint Server for Health Sciences|July 15, 2025
Scalable automated reanalysis of genomic data in research and clinical rare disease cohortsMatthew J Welland, K D Ahlquist, Paul De Fazio, et al.Nature Medicine|June 24, 2026
Automated reanalysis of genomic data for rare disease diagnostics at scaleMatthew J Welland, K D Ahlquist, Paul De Fazio, et al.Science (New York, N.Y.)|January 20, 2016
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomaliesJason Homsy, Samir Zaidi, Yufeng Shen, et al.Nature|April 14, 2017
Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinityDanish Saleheen, Pradeep Natarajan, Irina M Armean, et al.Pageof 6