Jamie L. Fraser
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View article: Mondo: Integrating Disease Terminology Across Communities
Mondo: Integrating Disease Terminology Across Communities Open
Precision medicine aims to enhance diagnosis, treatment, and prognosis by integrating multimodal data at the point of care. However, challenges arise due to the vast number of diseases, differing methods of classification, and conflicting …
View article: Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study
Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study Open
Importance Leukodystrophies are a diverse group of rare disorders that disrupt central myelination. These disorders present with a broad spectrum of neurological severity and are associated with a range of potential secondary complications…
View article: New Phenotypic Features in <i>FGFR1</i>‐Related Osteoglophonic Dysplasia
New Phenotypic Features in <i>FGFR1</i>‐Related Osteoglophonic Dysplasia Open
Osteoglophonic dysplasia (OGD) is a rare skeletal disorder caused by certain variants in FGFR1 . The FGFR1 gene encodes a receptor vital for osteogenesis in the axial and craniofacial skeleton. Key OGD features include craniosynostosis, cr…
View article: Genome-wide profiling of highly similar paralogous genes using HiFi sequencing
Genome-wide profiling of highly similar paralogous genes using HiFi sequencing Open
Variant calling is hindered in segmental duplications by sequence homology. We developed Paraphase, a HiFi-based informatics method that resolves highly similar genes by phasing all haplotypes of paralogous genes together. We applied Parap…
View article: Systemic complications of Aicardi Goutières syndrome using real-world data
Systemic complications of Aicardi Goutières syndrome using real-world data Open
View article: De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome
De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome Open
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes 1 . Large genome-sequenced cohorts are improving our ability to discover new diagno…
View article: Advance Care Planning for Children With Rare Diseases: A Pilot RCT
Advance Care Planning for Children With Rare Diseases: A Pilot RCT Open
BACKGROUND AND OBJECTIVE Pediatric rare diseases are often life-limiting conditions and/or require constant caregiving. Investigators assessed the initial efficacy of the FAmily CEntered (FACE) pediatric advance care planning (pACP), FACE-…
View article: Enasidenib‐induced hepatitis in an individual with Type II D2‐hydroxyglutaric aciduria
Enasidenib‐induced hepatitis in an individual with Type II D2‐hydroxyglutaric aciduria Open
Type II D‐2‐Hydroxyglutaric aciduria (T2D2HGA) is caused by a gain‐of‐function pathogenic variant in Isocitrate Dehydrogenase 2 (IDH2). Patients with T2D2HGA commonly present with developmental delay, seizures, cardiomyopathy, and arrhythm…
View article: Characteristic Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency
Characteristic Fetal Brain MRI Abnormalities in Pyruvate Dehydrogenase Complex Deficiency Open
Pyruvate dehydrogenase complex deficiency (PDCD) is a disorder of mitochondrial metabolism that is caused by pathogenic variants in multiple genes, including PDHA1 . Typical neonatal brain imaging findings in PDCD have been described, with…
View article: <i>De novo</i>variants in the non-coding spliceosomal snRNA gene<i>RNU4-2</i>are a frequent cause of syndromic neurodevelopmental disorders
<i>De novo</i>variants in the non-coding spliceosomal snRNA gene<i>RNU4-2</i>are a frequent cause of syndromic neurodevelopmental disorders Open
Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes 1 . Increasingly, large genome-sequenced cohorts are improving our ability to disco…
View article: Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States Open
View article: Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach Open
View article: P021: Expansion of the phenotype of thiamine pyrophosphokinase deficiency: A treatable cause of Leigh disease, includes severe neuronopathic disease
P021: Expansion of the phenotype of thiamine pyrophosphokinase deficiency: A treatable cause of Leigh disease, includes severe neuronopathic disease Open
Thiamine pyrophosphokinase (TPK) deficiency is an ultra-rare disorder of thiamine metabolism associated with biallelic variants in TPK1. TPK converts dietary thiamine to thiamine pyrophosphate (TPP), the requisite cofactor for three dehydr…
View article: P789: Novel markers of pyruvate dehydrogenase complex deficiency on fetal brain MRI
P789: Novel markers of pyruvate dehydrogenase complex deficiency on fetal brain MRI Open
Pyruvate dehydrogenase complex deficiency (PDCD) is a disorder of mitochondrial metabolism that is caused by pathogenic variants in multiple genes, including PDHA1. Typical neonatal brain imaging findings in PDCD have been described. Howev…
View article: Systemic Complications of Aicardi Goutières Syndrome Using Real World Data
Systemic Complications of Aicardi Goutières Syndrome Using Real World Data Open
View article: P184: Hypermobility clinic: Innovative workflow supporting patients and provider wellness
P184: Hypermobility clinic: Innovative workflow supporting patients and provider wellness Open
Individuals with hypermobility who may meet the clinical criteria for Ehlers-Danlos, hypermobile type (hEDS), frequently request evaluations by genetics providers. As the total number of genetics providers is stable but the number of patie…
View article: P778: Congenital brain malformations in TPK1-related disorder: A novel severe phenotype
P778: Congenital brain malformations in TPK1-related disorder: A novel severe phenotype Open
Thiamine pyrophosphokinase deficiency is an inherited metabolic disorder caused by pathogenic variants in TPK1. Typical clinical findings include childhood onset of developmental delay, encephalopathy, axial hypotonia with development of a…
View article: P790: Yield of exome sequencing in congenital brain malformations identified on fetal MRI
P790: Yield of exome sequencing in congenital brain malformations identified on fetal MRI Open
Fetal congenital brain malformations identified on prenatal ultrasound are a common referral indication from obstetrical providers for fetal MRI and fetal neurology or genetics consultations. Various types of malformations can be included …
View article: Beyond the exome: What’s next in diagnostic testing for Mendelian conditions
Beyond the exome: What’s next in diagnostic testing for Mendelian conditions Open
View article: Correction to: Hippocampal rotation is associated with ventricular atrial size
Correction to: Hippocampal rotation is associated with ventricular atrial size Open
View article: Increased diagnostic yield from negative whole genome‐slice panels using automated reanalysis
Increased diagnostic yield from negative whole genome‐slice panels using automated reanalysis Open
We evaluated the diagnostic yield using genome‐slice panel reanalysis in the clinical setting using an automated phenotype/gene ranking system. We analyzed whole genome sequencing (WGS) data produced from clinically ordered panels built as…
View article: Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN)
Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN) Open
View article: Delayed diagnosis and racial bias in children with genetic conditions
Delayed diagnosis and racial bias in children with genetic conditions Open
As more therapeutics for genetic conditions become available, the need for timely and equitable genetic diagnosis has become urgent. Using clinical cases, we consider the health system‐, provider‐, and patient‐level factors that contribute…
View article: Hodgkin lymphoma in an individual with <i>TREX1</i>‐mediated Aicardi Goutières syndrome
Hodgkin lymphoma in an individual with <i>TREX1</i>‐mediated Aicardi Goutières syndrome Open
View article: Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
Correction to: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy Open
View article: De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy
De novo variants in SNAP25 cause an early-onset developmental and epileptic encephalopathy Open
View article: Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase–Associated Neurodegeneration
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase–Associated Neurodegeneration Open
Background Pantothenate kinase–associated neurodegeneration (PKAN) currently has no approved treatments. Objectives The Fosmetpantotenate Replacement Therapy pivotal trial examined whether treatment with fosmetpantotenate improves PKAN sym…
View article: Rapid deployment of a telemedicine care model for genetics and metabolism during <scp>COVID</scp>‐19
Rapid deployment of a telemedicine care model for genetics and metabolism during <span>COVID</span>‐19 Open
The national importance of telemedicine for safe and effective patient care has been highlighted by the current COVID‐19 pandemic. Prior to the 2020 pandemic the Division of Genetics and Metabolism piloted a telemedicine program focused on…
View article: De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism
De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism Open
View article: Randomized Clinical Trial of<scp>First‐Line</scp>Genome Sequencing in Pediatric White Matter Disorders
Randomized Clinical Trial of<span>First‐Line</span>Genome Sequencing in Pediatric White Matter Disorders Open
Objective Genome sequencing (GS) is promising for unsolved leukodystrophies, but its efficacy has not been prospectively studied. Methods A prospective time‐delayed crossover design trial of GS to assess the efficacy of GS as a first‐line …