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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...

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....

May 21, 2025

Long-Read Whole-Genome Sequencing Uncovers a Deletion Upstream to HOXD13 Causing Synpolydactyly

This report highlights a familial SPD case undetected by exome sequencing (ES) but resolved through long-read sequencing (LRS)....

April 10, 2025

Self-limited familial focal epilepsy caused by ANK2 variants: A potentially under-recognized condition

A Taiwanese family with epilepsy was studied ES. Sequencing was performed using Illumina and variant analysis with Geneyx software....

May 20, 2025

[Poster] Framework for Efficient Variant Filtering in Whole Genome Sequencing for Improved Diagnostics

Presented by Hagar Mor Shaked. The SMART ( Multi step, Automated, Rare variant prioritization Tool) filtering method identified clinically significant...

February 12, 2025

Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia

Clinical Exome Sequencing (ES) serves as a powerful diagnostic tool, enabling the simultaneous detection of single nucleotide variants (SNVs) and...

March 17, 2025

P260: Enhancing copy number variant analysis in exome sequencing with backbone probe optimization

Clinical Exome Sequencing (ES) serves as a powerful diagnostic tool, enabling the simultaneous detection of single nucleotide variants (SNVs) and...

October 10, 2024

Genomic investigation, conducted using the Geneyx Analysis Platform, identified key mutations associated with resistance

Current FLT3 inhibitors, including midostaurin, quizartinib, and gilteritinib, face resistance issues, often due to mutations such as FLT3 F691L, which...

February 12, 2025

Reconsidering Silent Variant Unveils SGCA’s Role in Atypical Cardiomyopathy

Genomic DNA was sequenced using Illumina platforms, with variant calling and annotation performed on the Geneyx Analysis platform....

January 10, 2025

Clinical evaluation of long-read sequencing-based episignature detection in developmental disorders

Long-read whole-genome sequencing (lrWGS), using Oxford Nanopore Technologies (ONT), now enables simultaneous detection of genetic and epigenetic variations....

January 31, 2025

Prioritizing Variants with Human Phenotype Ontology Using Geneyx Analysis

Clinical exome sequencing (CES) was performed, with data analyzed using the Geneyx Analysis platform, prioritizing variants based on Human Phenotype...

November 25, 2024

Early Onset of Wilson’s Disease and Possible Role of Disease Modifying Genes: A Case Report and Literature Review

Wilson's disease (WD) is a rare autosomal recessive condition caused by genetic changes in the ATP7B gene, leading to copper...

May 20, 2024

Identification of Pharmacologically Relevant Mutations in Endometrial Cancer by Whole-exome Sequencing of FFPE Tumour Samples

Endometrial cancer (EC) remains challenging to treat, particularly recurrent cases....

April 24, 2024

Familial androgen insensitivity syndrome caused by the AR N706S variant case report and systematic literature review

Androgen insensitivity syndrome (AIS) is an X-linked recessive disease and the most frequent cause of disorders of sex development (DSD)...

November 20, 2024

[Poster] Improvement of Copy Number Variant Analysis from Exome

Presented by Eli Sward PhD. Sequencing Using a Backbone Probe Enhancement. To address these challenges and enhance CNV detection, backbone-...

September 9, 2024

Identification of diagnostic candidates in Mendelian disorders using an RNA sequencing-centric approach

LRS technologies like those from Oxford Nanopore Technologies (ONT) and PacBio Biosciences (PacBio) have improved structural variant (SV) detection threefold...

November 19, 2024

[Poster] Pathological Short Tandem Repeats Analysis by Long-Read Sequencing in Affected Individuals

Presented by Hagar Mor-Shaked, PhD. Long-read sequencing (LRS) - highlight on improved accuracy in detecting STR expansions and methylation abnormalities....

November 7, 2024

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

Presented by Willem Haagmans. SVDuo solves this issue by performing integrated DNA-RNA analysis....

November 6, 2024

[Poster] From Validation to Diagnosis: Metadata analysis of Long Read Sequencing for Clinical Insights

Presented by Suzie Drury, PhD. From Validation to Diagnosis: Metadata analysis of Long Read Sequencing....

May 4, 2023

Whole genome long-read sequencing downsampling and its effect on variant-calling precision and recall

LRS technologies like those from Oxford Nanopore Technologies (ONT) and PacBio Biosciences (PacBio) have improved structural variant (SV) detection threefold...

January 23, 2024

Calmodulinopathy Associated Long QT Syndrome, Hypertrophic Cardiomyopathy With Excessive Trabeculation in a 14-Year-Old Girl Presenting With Ventricular Fibrillation

An asymptomatic 14 years of age female had a cardiac arrest while rushing up the stairs and was revived with...

April 23, 2024

Case report: Long term response to growth hormone in a child with Silver-Russell syndrome-like phenotype due to a novel paternally inherited IGF2 variant

The study described a paternally transmitted IGF2 variant that was found in an SRS-diagnosed boy and highlighted growth hormone (GH)...

April 23, 2024

Congenital Heart Defects in Patients with Molecularly Confirmed Sotos Syndrome

Sotos syndrome is a rare autosomal dominant disorder described by overgrowth, motor delays, learning challenges, and distinctive facial features, with...

April 25, 2024

Identification of a Novel GNAS Mutation in a Family with Pseudohypoparathyroidism Type 1A

The authors described PHP1A family with 4 affected members sharing the identical GNAS gene mutation but displaying varied phenotypic presentations....

April 17, 2024

Focus on – Geneyx Cohort search and NonCoding regions

Remarkably explained the diagnosis of approximately ~~0.5% of all undiagnosed individuals with neurodevelopmental disorders (NDD)....

March 10, 2024

CFTR Function is Impaired in a Subset of Patients with Pancreatitis Carrying Rare CFTR Variants

Pancreatitis, an inflammatory condition affecting the pancreatic epithelium, is a gastrointestinal disorder resulting in significant distress and is often linked...

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