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Genetics in Medicine Open|December 13, 2024
Copy-number analysis from genome sequencing data of 11,754 rare-disease parent-child trios: A model for identifying autosomal recessive human gene knockouts including a novel gene for autosomal recessive retinopathyEric Olinger, Ian J Wilson, Sarah Orr, et al.Annals of Human Genetics|April 12, 2023
Molecular genetic diagnosis of kidney ciliopathies: Lessons from interpreting genomic sequencing data and the requirement for accurate phenotypic dataSarah Orr, Eric Olinger, Sotia Iosifidou, et al.Non-Coding RNA|December 22, 2022
The Idiopathic Pulmonary Fibrosis-Associated Single Nucleotide Polymorphism RS35705950 Is Transcribed in a MUC5B Promoter Associated Long Non-Coding RNA (AC061979.1)Ruxandra Neatu, Ifeanyi Enekwa, Dean J Thompson, et al.Journal of Rare Diseases (Berlin, Germany)|June 8, 2023
Use of whole genome sequencing to determine the genetic basis of visceral myopathies including Prune Belly syndromeRobert M Geraghty, Sarah Orr, Eric Olinger, et al.Clinical Genetics|October 23, 2022
Biallelic variants in CEP164 cause a motile ciliopathy-like syndromeLaura A Devlin, Janice Coles, Claire L Jackson, et al.American Journal of Human Genetics|December 10, 2021
Monoallelic IFT140 pathogenic variants are an important cause of the autosomal dominant polycystic kidney-spectrum phenotypeSarah R Senum, Ying Sabrina M Li, Katherine A Benson, et al.American Journal of Human Genetics|May 19, 2023
Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletionsRia Schönauer, Wenjun Jin, Christin Findeisen, et al.Nephron|November 27, 2025
Biallelic TMEM72 Variants in Patients with a Nephronophthisis-Like PhenotypeLaura R Claus, Rozemarijn Snoek, Siebren Faber, et al.Medrxiv : the Preprint Server for Health Sciences|January 10, 2024
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project dataValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.Nature|February 26, 2025
Rare disease gene association discovery in the 100,000 Genomes ProjectValentina Cipriani, Letizia Vestito, Emma F Magavern, et al.Pageof 1