A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8
Ilse Van Gucht(University of Antwerp), Aline Verstraeten(University of Antwerp), Isabel Pintelon(University of Antwerp), Jotte Rodrigues Bento(University of Antwerp), Narges Hashemi(Mashhad University of Medical Sciences), Julie Vogt(Birmingham Women's Hospital), Abdulrahman Almesned(Saud Al-babtain Cardiac Centre), Mehran Beiraghi Toosi(Mashhad University of Medical Sciences), Lut Van Laer(University of Antwerp), Mandy Vermont(University of Antwerp), Erik Fransén(University of Antwerp), Lotte Van Den Heuvel(University of Antwerp), Gangadhara Bharmappanavara(Musgrove Park Hospital), Dorien Schepers(University of Antwerp), Joe Davis Velchev(University of Antwerp), Bart Loeys(Radboud University Nijmegen), Amber Begtrup, David Murphy(National Hospital for Neurology and Neurosurgery), Maaike Alaerts(University of Antwerp), Paria Najarzadeh Torbati, Jill A. Rosenfeld(Baylor College of Medicine), Jarl Bastianen(University of Antwerp), Alistair T. Pagnamenta(University College London), Nicole Revençu(Cliniques Universitaires Saint-Luc), Cédric Neutel(University of Antwerp), Ashish Chikermane, K. Nicole Weaver(Cincinnati Children's Hospital Medical Center), Pieter‐Jan Guns(University of Antwerp), Josephina Meester(University of Antwerp), Hassan Mottaghi Moghaddam Shahri(Mashhad University of Medical Sciences), Melanie Perik(University of Antwerp), Henry Houlden(University College London), Reza Maroofian(National Hospital for Neurology and Neurosurgery), Isabelle Maystadt(Institute of Pathology and Genetics), Ilse Luyckx(Radboud University Nijmegen), Silke Peeters(University of Antwerp), Matteo P. Ferla(Centre for Human Genetics), Zuhair N. Al‐Hassnan(King Faisal Specialist Hospital & Research Centre), Desiderio Rodrigues(Birmingham Women’s and Children’s NHS Foundation Trust), Erin M. Miller(Cincinnati Children's Hospital Medical Center), Kayal Vijayakumar(University Hospitals Bristol NHS Foundation Trust), Maggie Williams(Southmead Hospital), Julie Evans(Southmead Hospital), Anthony R. Dallosso(Southmead Hospital), Thierry Sluysmans(Cliniques Universitaires Saint-Luc), Jenny C. Taylor(Centre for Human Genetics)
Cited by 20
Related Papers
2023 ESC Guidelines for the management of cardiomyopathies
|European Heart Journal|2023|2.3k
Genome-wide association study reveals genetic risk underlying Parkinson's disease
|Nature Genetics|2009|2k
A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2
|Nature Genetics|2005|1.8k
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
|New England Journal of Medicine|2016|774
High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies
|The American Journal of Human Genetics|2017|456