@misc{indiciae7ec4bd52c72a, title = {Variants leading to ELAVL2 haploinsufficiency cause a neurodevelopmental disorder with prominent cognitive, behavioral, and neurological features.}, author = {Marina Boon and Meghan R Mulligan and Jolijn J A Verseput and Barbara \&\#x160;aki\&\#x107; and Pleuni Schreurs and Mireia Coll-Tan\&\#xe9; and Andrea Accogli and Emily Alderman and Taryn Athey and Cornelius Boerkoel and Antonella Boni and Roseline Caumes and Erica Gerkes and Sabine Haase and Sylvie Jaillard and Lauren Jeffries and Peter Kannu and Monica Konstantino and Jonathan L\&\#xe9;vy and Anna Lokchine and Maarten Massink and Nadra Nasser Samra and Renske Oegema and Marcello Scala and Jolanda Schieving and Sarina Schwartzmann and Henrike Lisa Sczakiel and Thomas Smol and Pasquale Striano and Alain Verloes and Amber Begtrup and Rolph Pfundt and Barbara Franke and Marieke Klein and Annette Schenck and Louise S Bicknell and Bert B A de Vries}, year = {2026}, doi = {10.1016/j.ajhg.2026.07.007}, url = {https://pubmed.ncbi.nlm.nih.gov/42556336/}, note = {Source identifier: 42556336} }