BibTex format
@article{Engel:2023:10.1038/s41431-023-01410-z,
author = {Engel, C and Valence, S and Delplancq, G and Maroofian, R and Accogli, A and Agolini, E and Alkuraya, FS and Baglioni, V and Bagnasco, I and Becmeur-Lefebvre, M and Bertini, E and Borggraefe, I and Brischoux-Boucher, E and Bruel, A-L and Brusco, A and Bubshait, DK and Cabrol, C and Cilio, MR and Cornet, M-C and Coubes, C and Danhaive, O and Delague, V and Denomme-Pichon, A-S and Di, Giacomo MC and Doco-Fenzy, M and Engels, H and Cremer, K and Gerard, M and Gleeson, JG and Heron, D and Goffeney, J and Guimier, A and Harms, FL and Houlden, H and Iacomino, M and Kaiyrzhanov, R and Kamien, B and Karimiani, EG and Kraus, D and Kuentz, P and Kutsche, K and Lederer, D and Massingham, L and Mignot, C and Morris-Rosendahl, D and Nagarajan, L and Odent, S and Ormieres, C and Partlow, JN and Pasquier, L and Penney, L and Philippe, C and Piccolo, G and Poulton, C and Putoux, A and Rio, M and Rougeot, C and Salpietro, V and Scheffer, I and Schneider, A and Srivastava, S and Straussberg, R and Stria},
doi = {10.1038/s41431-023-01410-z},
journal = {EUROPEAN JOURNAL OF HUMAN GENETICS},
pages = {1023--1031},
title = {<i>BRAT1</i>-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients},
url = {http://dx.doi.org/10.1038/s41431-023-01410-z},
volume = {31},
year = {2023}
}