Publications by authors named "Loisa D Bonde"

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A homozygous synonymous NOP58 variant causes a neurodevelopmental disorder by impairing maturation of pre-ribosomal RNAs.
Loisa D Bonde, Tess Holling, Malik Alawi, Ahmed A El Beheiry, Zabih Mir Hassani

HGG Adv· December 2025

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Novel biallelic variants affect the nuclear pore complex and expand the clinical spectrum to include brain malformations.
Loisa Dana Bonde, Laura Hecher, Malik Alawi, Kirsten P Forbes, Joseph D Symonds

J Med Genet· July 2025

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Oxford Nanopore long-read sequencing with CRISPR/Cas9-mediated target selection for accurate characterization of copy number variants in the LDLR gene.
Robin A Pilz, Dariush Skowronek, Loisa D Bonde, Tadeusz Kałużewski, Ole J Schamuhn

Eur J Med Genet· April 2025

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Homozygous synonymous FAM111A variant underlies an autosomal recessive form of Kenny-Caffey syndrome.
Loisa Dana Bonde, Ibrahim M Abdelrazek, Lara Seif, Malik Alawi, Khaled Matrawy

J Hum Genet· February 2025

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