Matthew J. Ferber
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View article: Mismatch repair gene specifications to the ACMG/AMP classification criteria: Consensus recommendations from the InSiGHT ClinGen Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel
Mismatch repair gene specifications to the ACMG/AMP classification criteria: Consensus recommendations from the InSiGHT ClinGen Hereditary Colorectal Cancer / Polyposis Variant Curation Expert Panel Open
Background It is known that gene- and disease-specific evidence domains can potentially improve the capability of the ACMG/AMP classification criteria to categorize pathogenicity for variants. We aimed to include gene–disease-specific clin…
View article: <i>MARK2</i>variants cause autism spectrum disorder<i>via</i>the downregulation of WNT/β-catenin signaling pathway
<i>MARK2</i>variants cause autism spectrum disorder<i>via</i>the downregulation of WNT/β-catenin signaling pathway Open
MARK2 , a member of the evolutionarily conserved PAR1/MARK serine/threonine kinase family, has been identified as a novel risk gene for autism spectrum disorder (ASD) based on the enrichment of de novo loss-of-function (Lof) variants in la…
View article: Use of next-generation sequencing to detect mutations associated with antiviral drug resistance in cytomegalovirus
Use of next-generation sequencing to detect mutations associated with antiviral drug resistance in cytomegalovirus Open
Cytomegalovirus (CMV) is a significant cause of morbidity and mortality among immunocompromised hosts, including transplant recipients. Antiviral prophylaxis or treatment is used to reduce the incidence of CMV disease in this patient popul…
View article: <i>CSNK2B</i>: A broad spectrum of neurodevelopmental disability and epilepsy severity
<i>CSNK2B</i>: A broad spectrum of neurodevelopmental disability and epilepsy severity Open
CSNK2B has recently been implicated as a disease gene for neurodevelopmental disability (NDD) and epilepsy. Information about developmental outcomes has been limited by the young age and short follow‐up for many of the previously reported …
View article: One in seven pathogenic variants can be challenging to detect by NGS: An analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation
One in seven pathogenic variants can be challenging to detect by NGS: An analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation Open
Purpose To evaluate the impact of technically challenging variants on the implementation, validation, and diagnostic yield of commonly used clinical genetic tests. Such variants include large indels, small CNVs, complex alterations, and va…
View article: Design and reporting considerations for genetic screening tests
Design and reporting considerations for genetic screening tests Open
Testing asymptomatic individuals for unsuspected conditions is not new to the medical and public health communities and protocols to develop screening tests are well-established. However, the application of screening principles to inherite…
View article: Design and reporting considerations for genetic screening tests
Design and reporting considerations for genetic screening tests Open
Testing asymptomatic individuals for unsuspected conditions is not new to the medical and public health communities and protocols to develop screening tests are well-established. However, the application of screening principles to inherite…
View article: Design and reporting considerations for genetic screening tests
Design and reporting considerations for genetic screening tests Open
Testing asymptomatic individuals for unsuspected conditions is not new to the medical and public health communities and protocols to develop screening tests are well-established. However, the application of screening principles to inherite…
View article: The positive predictive value of genetic screening tests
The positive predictive value of genetic screening tests Open
As the cost of DNA sequencing continues to fall, more individuals are opting to undergo genomic testing in the absence of a clinical indication. Testing asymptomatic individuals for unsuspected conditions is not new to the medical and publ…
View article: Design and reporting considerations for genetic screening tests
Design and reporting considerations for genetic screening tests Open
Testing asymptomatic individuals for unsuspected conditions is not new to the medical and public health communities and protocols to develop screening tests are well-established. However, the application of screening principles to inherite…
View article: RNA‐Seq detects a <i>SAMD12‐EXT1</i> fusion transcript and leads to the discovery of an <i>EXT1</i> deletion in a child with multiple osteochondromas
RNA‐Seq detects a <i>SAMD12‐EXT1</i> fusion transcript and leads to the discovery of an <i>EXT1</i> deletion in a child with multiple osteochondromas Open
Background We describe a patient presenting with pachygyria, epilepsy, developmental delay, short stature, failure to thrive, facial dysmorphisms, and multiple osteochondromas. Methods The patient underwent extensive genetic testing and an…
View article: Novel <i>NR2F1</i> variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype–phenotype correlation, and phenotypic expansion of the Bosch–Boonstra–Schaaf optic atrophy syndrome
Novel <i>NR2F1</i> variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype–phenotype correlation, and phenotypic expansion of the Bosch–Boonstra–Schaaf optic atrophy syndrome Open
Bosch–Boonstra–Schaaf optic atrophy syndrome (BBSOAS) is a recently described autosomal dominant disorder caused by mutations in the NR2F1 gene. There are presently 28 cases of BBSOAS described in the literature. Its common features includ…
View article: Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes Open
Results across case subsets may help prioritize genes for inclusion in clinical gene panel tests and underscore the issue of variants of uncertain significance both in well-characterized genes and those for which limited experience has acc…
View article: Novel de novo variant in <i>EBF3</i> is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases
Novel de novo variant in <i>EBF3</i> is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases Open
Pathogenic variants in EBF3 were recently described in three back-to-back publications in association with a novel neurodevelopmental disorder characterized by intellectual disability, speech delay, ataxia, and facial dysmorphisms. In this…
View article: EHR based Genetic Testing Knowledge Base (iGTKB) Development
EHR based Genetic Testing Knowledge Base (iGTKB) Development Open
In this study, we developed an EHR based genetic testing knowledge base, iGTKB. iGTKB will be integrated into the GTO by providing relevant clinical evidence, and ultimately to support development of genetic testing recommendation system, …