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SYT1-associated neurodevelopmental disorder: a case series

Brain (London, England : 1878), 2018-09, Vol.141 (9), p.2576-2591

2018

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Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Human molecular genetics, 2014-06, Vol.23 (11), p.2888-2900

2014

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Can Rapid Nanopore Sequencing Bring Genomic Testing to the Bedside?

Clinical chemistry (Baltimore, Md.), 2022-12, Vol.68 (12), p.1484-1485

2022

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Genomic testing in premature ovarian insufficiency: proceed with caution

Biology of reproduction, 2022-11, Vol.107 (5), p.1155-1158

2022

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More Than a Decade of Rapid Genomic Sequencing: Where Are We Now?

Clinical chemistry (Baltimore, Md.), 2024-04, Vol.70 (4), p.577-583

2024

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IREB2-associated neurodegeneration

Brain (London, England : 1878), 2019-08, Vol.142 (8), p.e40-e40

2019

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Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia

Human molecular genetics, 2022-02, Vol.31 (4), p.614-624

2022

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Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease

Human molecular genetics, 2023-07, Vol.32 (15), p.2441-2454

2023

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SYT1-associated neurodevelopmental disorder: a case series

Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance

Can Rapid Nanopore Sequencing Bring Genomic Testing to the Bedside?

Genomic testing in premature ovarian insufficiency: proceed with caution

More Than a Decade of Rapid Genomic Sequencing: Where Are We Now?

IREB2-associated neurodegeneration

Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia

Deleterious variants in CRLS1 lead to cardiolipin deficiency and cause an autosomal recessive multi-system mitochondrial disease

Multi-omics identifies large mitoribosomal subunit instability caused by pathogenic MRPL39 variants as a cause of pediatric onset mitochondrial disease

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content

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