Variant Analysis

[Poster] Improvement of Copy Number Variant Analysis from Exome

publications

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...

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...

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...

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....

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...

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....

Better Data for Better Health

[Poster] Improvement of Copy Number Variant Analysis from Exome

publications

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

Multicentric infantile myofibromatosis with extensive visceral involvement in a newborn

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

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

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

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

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