Publications by authors named "Alessandro Rea"

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Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Huw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, Isabelle Schrauwen, Hanan E Shamseldin, Alessandro Rea

Am J Hum Genet· April 2025

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Bi-allelic variants in DAP3 result in reduced assembly of the mitoribosomal small subunit with altered apoptosis and a Perrault-syndrome-spectrum phenotype.
Thomas B Smith, Robert Kopajtich, Leigh A M Demain, Alessandro Rea, Huw B Thomas

Am J Hum Genet· January 2025

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Biallelic variants in cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Huw B Thomas, Leigh A M Demain, Alfredo Cabrera-Orefice, Isabelle Schrauwen, Hanan E Shamseldin, Alessandro Rea

medRxiv· October 2024

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Biallelic variants in result in reduced assembly of the mitoribosomal small subunit with altered intrinsic and extrinsic apoptosis and a Perrault syndrome-spectrum phenotype.
Thomas B Smith, Robert Kopajtich, Leigh A M Demain, Alessandro Rea, Huw B Thomas

medRxiv· August 2024

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Novel homozygous variants in PRORP expand the genotypic spectrum of combined oxidative phosphorylation deficiency 54.
Thomas B Smith, Alessandro Rea, Huw B Thomas, Kyle Thompson, Monika Oláhová

Eur J Hum Genet· October 2023

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New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder.
Rabia Faridi, Alessandro Rea, Cristina Fenollar-Ferrer, Raymond T O'Keefe, Shoujun Gu

Hum Genet· April 2022

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Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Irit Hochberg, Leigh A M Demain, Julie Richer, Kyle Thompson, Jill E Urquhart, Alessandro Rea, Andrea J Deutschmann

Am J Hum Genet· November 2021

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