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  • November 7, 2024

[Poster] Detection of a pathogenic PRKN inversion by a novel DNA-RNA combined analysis of structural variants

  • E. Schultz, G. Sharma, H. Asghari, S. Baker, D. Arkadir, Y. Mazor, J. Greenblatt, Y. Unger, H. Volkov, T. Harel, R. Patro, G. Marcais, C. Kingsford, H. Mor-shaked

ASHG Poster: Rna Dna SVDuo

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  • September 27, 2025

A Confirmatory Case of Severe Spondylocostal Dysostosis Caused by Biallelic Loss‐of‐Function of DMRT2

Spondylocostal dysostosis (SCDO) is a rare genetic disease defined by vertebral and rib deformities, shortened thorax, spinal deformity, and respiratory...

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  • July 8, 2025

Multicentric infantile myofibromatosis with extensive visceral involvement in a newborn

With a frequency of approximately 1:150,000, infantile myofibromatosis (IM) is the most common fibrous tumour in newborns. It is characterized...
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  • August 2, 2025

Hypokalemic periodic paralysis associated with the atypical CACNA1S c.2690G>A (p.Arg897Lys) variant: description of 14 affected individuals from five families

Hypokalemic periodic paralysis (HypoPP) is a rare genetic muscle disease marked by episodic weakness linked to reduced serum potassium, often...
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Uniparental isodisomy of chromosome 1 involving NPHS2 in steroid-resistant nephrotic syndrome with renal failure
  • February 19, 2025

Uniparental isodisomy of chromosome 1 involving NPHS2 in steroid-resistant nephrotic syndrome with renal failure

Genomic DNA from the patient and her parents was analyzed using the ClinEX pro kit and NovaSeq6000 platform....
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Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia
  • February 25, 2025

Three Cases of Spinocerebellar Ataxia Type 2 (SCA2) and Pediatric Literature Review: Do Not Forget Trinucleotide Repeat Disorders in Childhood-Onset Progressive Ataxia

Genetic analysis varied among participants. Analysis included regions with at least 30x coverage and utilized the BWA Aligner/DRAGEN system and...
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Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome
  • May 15, 2025

Recessive variants in WSB2 encoding a substrate receptor of E3 ubiquitin ligase underlie a neurodevelopmental syndrome

This study involved patients identified through collaborative genetic research efforts of Boston Children’s Hospital and University of Miami....
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