Alyssa Ritter
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View article: Roclanda®-induzierte Cornea verticillata
Roclanda®-induzierte Cornea verticillata Open
View article: Electrocardiographic Findings in Genotype-Positive and Non-Sarcomeric Children with Definite Hypertrophic Cardiomyopathy and Subclinical Variant Carriers.
Electrocardiographic Findings in Genotype-Positive and Non-Sarcomeric Children with Definite Hypertrophic Cardiomyopathy and Subclinical Variant Carriers. Open
Background In children with hypertrophic cardiomyopathy (HCM), the genotype-phenotype association of abnormal electrocardiographic (ECG) features in the backdrop of gene positivity have not been well described. This study aimed to describe…
View article: Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish
Abrogation of MAP4K4 protein function causes congenital anomalies in humans and zebrafish Open
We report 21 families displaying neurodevelopmental differences and multiple congenital anomalies while bearing a series of rare variants in mitogen-activated protein kinase kinase kinase kinase 4 ( MAP4K4 ). MAP4K4 has been implicated in …
View article: Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy Open
View article: Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study
Evidence-Based Assessment of Congenital Heart Disease Genes to Enable Returning Results in a Genomic Study Open
Background: Congenital heart disease (CHD) is the most common major congenital anomaly and causes significant morbidity and mortality. Epidemiologic evidence supports a role of genetics in the development of CHD. Genetic diagnoses can info…
View article: P209: Diagnostic yield and clinical utility of whole exome sequencing in pediatric cardiomyopathy*
P209: Diagnostic yield and clinical utility of whole exome sequencing in pediatric cardiomyopathy* Open
View article: Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy Open
View article: Expanding the phenotypic spectrum of ARCN1-related syndrome
Expanding the phenotypic spectrum of ARCN1-related syndrome Open
View article: Consolidation of the clinical and genetic definition of a <i>SOX4-</i>related neurodevelopmental syndrome
Consolidation of the clinical and genetic definition of a <i>SOX4-</i>related neurodevelopmental syndrome Open
Background A neurodevelopmental syndrome was recently reported in four patients with SOX4 heterozygous missense variants in the high-mobility-group (HMG) DNA-binding domain. The present study aimed to consolidate clinical and genetic knowl…
View article: The clinical and molecular spectrum of <i>QRICH1</i> associated neurodevelopmental disorder
The clinical and molecular spectrum of <i>QRICH1</i> associated neurodevelopmental disorder Open
De novo variants in QRICH1 (Glutamine-rich protein 1) has recently been reported in 11 individuals with intellectual disability (ID). The function of QRICH1 is largely unknown but it is likely to play a key role in the unfolded response of…
View article: Fine-Tuning 3-Methylglutaconic Aciduria Cutoffs for a Patient with Infantile-Onset Barth Syndrome
Fine-Tuning 3-Methylglutaconic Aciduria Cutoffs for a Patient with Infantile-Onset Barth Syndrome Open
BackgroundA 4-week-old Caucasian male presented with failure to thrive, grunting, irritability, and feeding difficulties.The pregnancy was complicated by intrauterine growth restriction and oligohydramnios; fetal echocardiogram was normal.…
View article: Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature Open
View article: Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome Open
Wiedemann‐Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized by intellectual disability and hypertrichosis. We performed a retrospective, multicenter, observational study of 1…
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: Genetic variant burden and adverse outcomes in pediatric cardiomyopathy
Genetic variant burden and adverse outcomes in pediatric cardiomyopathy Open
View article: Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants Open
Our work provides a comprehensive review and expansion of the genotypic and phenotypic spectrum of KAT6B disorders that will assist clinicians in the assessment, counseling, and management of affected individuals.
View article: Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment Open
View article: Clinical utility of exome sequencing in infantile heart failure
Clinical utility of exome sequencing in infantile heart failure Open
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.
View article: A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies
A Syndromic Neurodevelopmental Disorder Caused by Mutations in SMARCD1, a Core SWI/SNF Subunit Needed for Context-Dependent Neuronal Gene Regulation in Flies Open
View article: Title Page / Table of Contents
Title Page / Table of Contents Open
View article: Interstitial 4q Deletion Syndrome Including <b><i>NR3C2</i></b> Causing Pseudohypoaldosteronism
Interstitial 4q Deletion Syndrome Including <b><i>NR3C2</i></b> Causing Pseudohypoaldosteronism Open
Interstitial and terminal deletions of chromosome 4q have been described for many years and have variable phenotypes depending on the size of the deletion present. Clinical features can include developmental delay, growth difficulty, digit…
View article: Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects
Recessive DNAH9 Loss-of-Function Mutations Cause Laterality Defects and Subtle Respiratory Ciliary-Beating Defects Open
Dysfunction of motile monocilia, altering the leftward flow at the embryonic node essential for determination of left-right body asymmetry, is a major cause of laterality defects. Laterality defects are also often associated with reduced m…
View article: Cardiac Fibroma with Ventricular Tachycardia: An Unusual Clinical Presentation of Nevoid Basal Cell Carcinoma Syndrome
Cardiac Fibroma with Ventricular Tachycardia: An Unusual Clinical Presentation of Nevoid Basal Cell Carcinoma Syndrome Open
Pediatric cardiac tumors are rare and often benign with an incidence of approximately 0.03-0.32% and can be associated with genetic conditions. For example, approximately 3% of individuals with nevoid basal cell carcinoma syndrome (NBCCS),…
View article: <i>DOCK3</i>‐related neurodevelopmental syndrome: Biallelic intragenic deletion of <i>DOCK3</i> in a boy with developmental delay and hypotonia
<i>DOCK3</i>‐related neurodevelopmental syndrome: Biallelic intragenic deletion of <i>DOCK3</i> in a boy with developmental delay and hypotonia Open
Dedicator of cytokinesis (DOCK) family are evolutionary conserved guanine nucleotide exchange factors (GEFs) for the Rho GTPases, Rac, and Cdc42. DOCK3 functions as a GEF for Rac1, and plays an important role in promoting neurite and axona…
View article: Prevalence and Natural History of Aortic Root Dilation in a Longitudinal Cohort of Patients with Ehlers-Danlos Syndrome Hypermobility Type
Prevalence and Natural History of Aortic Root Dilation in a Longitudinal Cohort of Patients with Ehlers-Danlos Syndrome Hypermobility Type Open