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Human Molecular Genetics|November 13, 2013
DNAJC13 mutations in Parkinson diseaseCarles Vilariño-Güell, Alex Rajput, Austen J Milnerwood, et al.The Journal of Experimental Medicine|July 31, 2025
ASXL1 deficiency causes epigenetic dysfunction, combined immunodeficiency, and EBV-associated lymphomaMaggie P Fu, Mehul Sharma, Pariya Yousefi, et al.Nature Genetics|April 29, 2006
Genome-wide analysis of mammalian promoter architecture and evolutionPiero Carninci, Albin Sandelin, Boris Lenhard, et al.Genome Biology|February 28, 2015
Gateways to the FANTOM5 promoter level mammalian expression atlasMarina Lizio, Jayson Harshbarger, Hisashi Shimoji, et al.Nature Genetics|May 24, 2016
NANS-mediated synthesis of sialic acid is required for brain and skeletal developmentClara D M van Karnebeek, Luisa Bonafé, Xiao-Yan Wen, et al.Cell|May 15, 2018
Interfaces of Malignant and Immunologic Clonal Dynamics in Ovarian CancerAllen W Zhang, Andrew McPherson, Katy Milne, et al.The New England Journal of Medicine|April 11, 2019
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLSAndré B P van Kuilenburg, Maja Tarailo-Graovac, Phillip A Richmond, et al.Journal of Human Immunity|June 1, 2026
Human germline biallelic loss-of-function OSMR variants cause severe allergic diseaseSimran Samra, Mehul Sharma, Julia Körholz, et al.Nature|March 28, 2014
An atlas of active enhancers across human cell types and tissuesRobin Andersson, Claudia Gebhard, Irene Miguel-Escalada, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|February 27, 2024
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disordersClara D M van Karnebeek, Maja Tarailo-Graovac, René Leen, et al.Pageof 29