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Medrxiv : the Preprint Server for Health Sciences|May 19, 2023
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in <i>AFF3</i> as a significant cause of intellectual disabilityBharati Jadhav, Paras Garg, Joke J F A van Vugt, et al.Nature Genetics|September 23, 2024
A phenome-wide association study of methylated GC-rich repeats identifies a GCC repeat expansion in AFF3 associated with intellectual disabilityBharati Jadhav, Paras Garg, Joke J F A van Vugt, et al.Medrxiv : the Preprint Server for Health Sciences|September 5, 2025
Biallelic variants in <i>RNU2-2</i> cause the most prevalent known recessive neurodevelopmental disorderDaniel Greene, Rodrigo Mendez, Jon Lees, et al.American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation|January 11, 2024
A Deep Intronic PKHD1 Variant Identified by SpliceAI in a Deceased Neonate With Autosomal Recessive Polycystic Kidney DiseaseFelix Richter, Kayleigh D Rutherford, Anisha J Cooke, et al.Nature Communications|May 27, 2018
Identification of rare de novo epigenetic variations in congenital disordersMafalda Barbosa, Ricky S Joshi, Paras Garg, et al.Nature Genetics|May 4, 2010
De novo mutations of SETBP1 cause Schinzel-Giedion syndromeAlexander Hoischen, Bregje W M van Bon, Christian Gilissen, et al.Nature Genetics|March 30, 2026
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorderDaniel Greene, Rodrigo Mendez, Jon Lees, et al.American Journal of Human Genetics|August 8, 2020
Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with PhenotypeMichael S Breen, Paras Garg, Lara Tang, et al.Orphanet Journal of Rare Diseases|July 7, 2019
Genomic imbalances defining novel intellectual disability associated lociFátima Lopes, Fátima Torres, Gabriela Soares, et al.Nature Genetics|August 18, 2022
Rare coding variation provides insight into the genetic architecture and phenotypic context of autismJack M Fu, F Kyle Satterstrom, Minshi Peng, et al.Pageof 3