Dale Annear postdoc researcher FWO

Publications Dale Annear

A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome

Source
European journal of human genetics - ISSN 1018-4813- (2025) p.
Author(s)

Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes

Source
Genome medicine - ISSN 1756-994X-17:1 (2025) p. 1-24
Author(s)
    Yingxi Wang, Eleanor I. Sams, Rachel Slaugh, Sandra Crocker, Emily Cordova Hurtado, Sophia Tracy, Ying-Chen Claire Hou, Christopher Markovic, Kostandin Valle, Victoria Tate, Khadija Belhassan, Elizabeth Appelbaum, Titilope Akinwe, Rodrigo T. Starosta, Yang Cao, Amber Neilson, Yu Liu, Nathaniel Jensen, Reza Ghasemi, Tina Lindsay, Juana Manuel, Sophia Couteranis, Milinn Kremitzki, Jack Ustanik, Thomas Antonacci, Jeffrey K. Ng, Andrew Emory, Laura Metz, Tracie DeLuca, Katherine N. Lyons, Toni Sinnwell, Brianne Thomeczek, Kymme Wang, Nick Sisneros, Megha Muraleedharan, Anantha Kethireddy, Marco Corbo, Harsha Gowda, Katherine A. King, Christina A. Gurnett, Susan K. Dutcher, Catherine Gooch, Yang E. Li, Matthew W. Mitchell, Kevin A. Peterson, Amjad Horani, Jill A. Rosenfeld, Frank Kooy, Dale Annear, Tychele N. Turner

Minimal repeats are ubiquitous sites of crossover and recombination across the human genome

Source
BMC genomics - ISSN 1471-2164-26:1 (2025) p. 1-16
Author(s)
    Mina Ohadi, Nahid Tajeddin, Hadi Bayat, Dale Annear, Ali M.A. Maddi, Hamid R. Khorram Khorshid, Kaveh Kavousi, Ahmad Delbari, Alireza Nikkhah, Masoud Arabfard

Loss-of-function of activity-dependent neuroprotective protein (ADNP) by a splice-acceptor site mutation causes Helsmoortel-Van der Aa syndrome

Source
European journal of human genetics - ISSN 1018-4813-32 (2024) p. 630-638
Author(s)