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View article: Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel
Clinical validity of congenital myopathy genes determined by the ClinGen Congenital Myopathies Expert Panel Open
Background: Congenital myopathies are a group of neuromuscular disorders that typically present at birth or early childhood with hypotonia and non-progressive or slowly progressive muscle weakness. They are classically subclassified by cha…
View article: P452: Male non-lethal FLNA phenotypes: Medical and counseling challenges
P452: Male non-lethal FLNA phenotypes: Medical and counseling challenges Open
View article: Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability
Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability Open
View article: Pathogenic <i>TNNI1</i> variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease
Pathogenic <i>TNNI1</i> variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease Open
Troponin I (TnI) regulates thin filament activation and muscle contraction. Two isoforms, TnI-fast ( TNNI2 ) and TnI-slow ( TNNI1 ), are predominantly expressed in fast- and slow-twitch myofibers, respectively. TNNI2 variants are a rare ca…
View article: Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria Open
Importance Polymicrogyria is the most commonly diagnosed cortical malformation and is associated with neurodevelopmental sequelae including epilepsy, motor abnormalities, and cognitive deficits. Polymicrogyria frequently co-occurs with oth…
View article: A comprehensive study of skeletal muscle imaging in <scp><i>FHL1</i></scp>‐related reducing body myopathy
A comprehensive study of skeletal muscle imaging in <span><i>FHL1</i></span>‐related reducing body myopathy Open
Objective FHL1 ‐related reducing body myopathy is an ultra‐rare, X‐linked dominant myopathy. In this cross‐sectional study, we characterize skeletal muscle ultrasound, muscle MRI, and cardiac MRI findings in FHL1 ‐related reducing body myo…
View article: CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability
CFAP45, a heterotaxy and congenital heart disease gene, affects cilia stability Open
View article: Unusually severe muscular dystrophy upon in-frame deletion of the dystrophin rod domain and lack of compensation by membrane-localized utrophin
Unusually severe muscular dystrophy upon in-frame deletion of the dystrophin rod domain and lack of compensation by membrane-localized utrophin Open
View article: P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies*
P452: Specifying the ACMG/AMP variant sequence interpretation guidelines for congenital myopathies* Open
View article: Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype
Deleterious, protein-altering variants in the transcriptional coregulator ZMYM3 in 27 individuals with a neurodevelopmental delay phenotype Open
View article: Deleterious, protein-altering variants in the X-linked transcriptional coregulator <i>ZMYM3</i> in 22 individuals with a neurodevelopmental delay phenotype
Deleterious, protein-altering variants in the X-linked transcriptional coregulator <i>ZMYM3</i> in 22 individuals with a neurodevelopmental delay phenotype Open
Neurodevelopmental disorders (NDDs) often result from highly penetrant variation in one of many genes, including genes not yet characterized. Using the MatchMaker Exchange, we assembled a cohort of 22 individuals with rare, protein-alterin…
View article: PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care
PheNominal: an EHR-integrated web application for structured deep phenotyping at the point of care Open
View article: Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care
Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care Open
BACKGROUND AND OBJECTIVES Telemedicine may increase access to medical genetics care. However, in the pediatric setting, how telemedicine may affect the diagnostic rate is unknown, partially because of the perceived importance of the dysmor…
View article: eP449: Expansion of the prenatal phenotype of PIEZO1 variants
eP449: Expansion of the prenatal phenotype of PIEZO1 variants Open
View article: Molecular Diagnostic Outcomes from 700 Cases
Molecular Diagnostic Outcomes from 700 Cases Open
View article: Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease Open
ClinicalTrials.gov Identifier: NCT03290469.
View article: <i>MLIP</i> causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase
<i>MLIP</i> causes recessive myopathy with rhabdomyolysis, myalgia and baseline elevated serum creatine kinase Open
Striated muscle needs to maintain cellular homeostasis in adaptation to increases in physiological and metabolic demands. Failure to do so can result in rhabdomyolysis. The identification of novel genetic conditions associated with rhabdom…
View article: <i>ANKRD11</i> variants: <scp>KBG</scp> syndrome and beyond
<i>ANKRD11</i> variants: <span>KBG</span> syndrome and beyond Open
Mutations affecting the transcriptional regulator Ankyrin Repeat Domain 11 (ANKRD11) are mainly associated with the multisystem developmental disorder known as KBG syndrome, but have also been identified in individuals with Cornelia de Lan…
View article: Author response for "ANKRD11 variants: KBG syndrome and beyond"
Author response for "ANKRD11 variants: KBG syndrome and beyond" Open
View article: Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium
Pathogenic variants in TNNC2 cause congenital myopathy due to an impaired force response to calcium Open
Troponin C (TnC) is a critical regulator of skeletal muscle contraction; it binds Ca2+ to activate muscle contraction. Surprisingly, the gene encoding fast skeletal TnC (TNNC2) has not yet been implicated in muscle disease. Here, we report…
View article: Ciliopathies: Coloring outside of the lines
Ciliopathies: Coloring outside of the lines Open
Ciliopathy syndromes are a diverse spectrum of disease characterized by a combination of cystic kidney disease, hepatobiliary disease, retinopathy, skeletal dysplasia, developmental delay, and brain malformations. Though generally divided …
View article: An ancestral 10-bp repeat expansion in <i>VWA1</i> causes recessive hereditary motor neuropathy
An ancestral 10-bp repeat expansion in <i>VWA1</i> causes recessive hereditary motor neuropathy Open
The extracellular matrix comprises a network of macromolecules such as collagens, proteoglycans and glycoproteins. VWA1 (von Willebrand factor A domain containing 1) encodes a component of the extracellular matrix that interacts with perle…
View article: Variants in <scp><i>NAA15</i></scp> cause pediatric hypertrophic cardiomyopathy
Variants in <span><i>NAA15</i></span> cause pediatric hypertrophic cardiomyopathy Open
The NatA N‐acetyltransferase complex is important for cotranslational protein modification and regulation of multiple cellular processes. The NatA complex includes the core components of NAA10 , the catalytic subunit, and NAA15 , the auxil…
View article: De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas
De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with ADHD, Craniosynostosis, and Osteochondromas Open
View article: A Centralized Approach for Practicing Genomic Medicine
A Centralized Approach for Practicing Genomic Medicine Open
Next-generation sequencing has revolutionized the diagnostic process, making broadscale testing affordable and applicable to almost all specialties; however, there remain several challenges in its widespread implementation. Barriers such a…
View article: POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern
POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern Open
View article: Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis
Correction: The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype–phenotype correlations, and molecular basis Open
View article: Clinical utility of exome sequencing in infantile heart failure
Clinical utility of exome sequencing in infantile heart failure Open
View article: Dominant collagen XII mutations cause a distal myopathy
Dominant collagen XII mutations cause a distal myopathy Open
Objective To characterize the natural history and clinical features of myopathies caused by mono‐allelic, dominantly acting pathogenic variants in COL12A1. Methods Patients with dominant COL12A1 ‐related myopathies were characterized by hi…
View article: Disruption of cardiac thin filament assembly arising from a mutation in <i>LMOD2</i> : A novel mechanism of neonatal dilated cardiomyopathy
Disruption of cardiac thin filament assembly arising from a mutation in <i>LMOD2</i> : A novel mechanism of neonatal dilated cardiomyopathy Open
Similarities between a mouse model and human patient informed diagnosis and management of a novel cause of dilated cardiomyopathy.