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Nature Communications|October 18, 2024
The GIAB genomic stratifications resource for human reference genomesNathan Dwarshuis, Divya Kalra, Jennifer McDaniel, et al.
BMC Biology|June 26, 2019
RNA-Seq in 296 phased trios provides a high-resolution map of genomic imprintingBharati Jadhav, Ramin Monajemi, Kristina K Gagalova, et al.
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 AFF3 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.
Plos Genetics|November 20, 2020
Rare genetic variation at transcription factor binding sites modulates local DNA methylation profilesAlejandro Martin-Trujillo, Nihir Patel, Felix Richter, 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.
Genome Medicine|August 10, 2022
REViewer: haplotype-resolved visualization of read alignments in and around tandem repeatsEgor Dolzhenko, Ben Weisburd, Kristina Ibañez, et al.
Medrxiv : the Preprint Server for Health Sciences|July 18, 2023
Increased frequency of repeat expansion mutations across different populationsKristina Ibañez, Bharati Jadhav, Matteo Zanovello, et al.
Nature Medicine|October 1, 2024
Increased frequency of repeat expansion mutations across different populationsKristina Ibañez, Bharati Jadhav, Matteo Zanovello, et al.
NPJ Parkinson'S Disease|March 4, 2023
The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson's disease dataHampton L Leonard, Ruqaya Murtadha, Alejandro Martinez-Carrasco, et al.
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