Novel biallelic variants expand the phenotype of <scp>NAA20</scp>‐related syndrome
Gianluca D’Onofrio(Centre Hospitalier Universitaire Sainte-Justine), Leonilda Bilo(University of Naples Federico II), Kirsten Brønstad(University of Bergen), Alessandra D’Amico(Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico), Patricia G. Wheeler(Nemours Children's Clinic), Giuseppe Merla(Casa Sollievo della Sofferenza), Thomas Arnesen(Haukeland University Hospital), Abdullah Alfalah(King Faisal Specialist Hospital & Research Centre), Michele Iacomino(Istituto Giannina Gaslini), Jennifer L. Morrison(Arnold Palmer Hospital for Children), Federico Zara(Istituto Giannina Gaslini), Paolo Uva(Environment Park), Mariasavina Severino(Istituto Giannina Gaslini), Bryn D. Webb(Child Health and Development Institute), Antonietta Coppola(University of Naples Federico II), Claudia Cuccurullo(Ospedale Antonio Cardarelli), Pasquale Striano(Great Ormond Street Hospital), Vincenzo Damiano Salpietro(University of L'Aquila), Silje Kathrine Larsen, Mohammed Al‐Owain(King Faisal Specialist Hospital & Research Centre), Andrea Accogli(Istituto Giannina Gaslini)
Cited by 10
Related Papers
Mapping the human genetic architecture of COVID-19
|Nature|2021|1.1k
Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes
|New England Journal of Medicine|2008|811
Autoantibodies against IL-17A, IL-17F, and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I
|The Journal of Experimental Medicine|2010|721
Structural brain abnormalities in the common epilepsies assessed in a worldwide ENIGMA study
|Brain|2017|546
Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies
|Nature Communications|2018|517