The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders.
Karen Jaqueline Low, Julia Foreman, Rachel J. Hobson, Hannah Kwuo, Elena Martínez‐Cayuelas, Berta Almoguera, Purificación Marín Reina, Stefano Giuseppe Caraffi, Livia Garavelli, Emily Woods, Meena Balasubramanian, Allan Bayat, Charlotte W. Ockeloen, Charlotte Margaret Wright, Helen V. Firth, Tim James Cole
The paper introduces the LMSz method to construct gene-specific growth charts for rare disorders using z-scores, showing gene-specific centiles and trends in anthropometric data.
European Journal of Human Genetics · Oct 12, 2025Peer-reviewedGenetic & Genomic Medicine