Publications by authors named "R S Person"

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De novo variants in ATP2B1 lead to neurodevelopmental delay.
Meer Jacob Rahimi, Nicole Urban, Meret Wegler, Heinrich Sticht, Michael Schaefer, Richard Person

Am J Hum Genet· December 2025

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PTBP1 variants displaying altered nucleocytoplasmic distribution are responsible for a neurodevelopmental disorder with skeletal dysplasia.
Aymeric Masson, Julien Paccaud, Martina Orefice, Estelle Colin, Outi Mäkitie, Richard Person

J Clin Invest· November 2025

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Profiling the cytotoxic effects of naled and other pesticides in primary human placental cytotrophoblasts.
Lin Li, Hao Chen, Unurzul Jigmeddagva, Ngantu Le, Mirhan Kapidzic, Romane Person

Toxicol Sci· July 2025

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Further delineation of the SCAF4-associated neurodevelopmental disorder.
Cosima M Schmid, Anne Gregor, Anna Ruiz, Carmen Manso Bazús, Isabella Herman, Richard Person

Eur J Hum Genet· May 2025

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BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations.
Angela Peron, Felice D'Arco, Kimberly A Aldinger, Constance Smith-Hicks, Christiane Zweier, Richard Person

Eur J Hum Genet· March 2025

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