Samantha A. Schrier Vergano
YOU?
Author Swipe
View article: Health Supervision for Children With 22q11.2 Deletion Syndrome: Clinical Report
Health Supervision for Children With 22q11.2 Deletion Syndrome: Clinical Report Open
22q11.2 deletion syndrome is the most frequent chromosomal microdeletion syndrome, with an estimated frequency of about 1/4000 in children younger than 1 year. Associated features in neonates and infants are conotruncal heart defects, inte…
View article: <scp>ARID2</scp>, a milder cause of <scp>Coffin‐Siris Syndrome</scp>? Broadening the phenotype with 17 additional individuals
<span>ARID2</span>, a milder cause of <span>Coffin‐Siris Syndrome</span>? Broadening the phenotype with 17 additional individuals Open
Coffin‐Siris Syndrome (CSS, MIM 135900) is now a well‐described genetic condition caused by pathogenic variants in the Bromocriptine activating factor (BAF) complex, including ARID1B , ARID1A , ARID2 , SMARCA4 , SMARCE1 , SMARCB1 , SOX11 ,…
View article: Krabbe Disease–To Add or Not to Newborn Screening?
Krabbe Disease–To Add or Not to Newborn Screening? Open
Krabbe disease (KD), a severe neurodegenerative disorder, has been controversial in the space of newborn screening (NBS) in the United States. Families continue to advocate for the addition of KD to the Recommended Uniform Screening Panel …
View article: ARID1B-related disorder in 87 adults: Natural history and self-sustainability
ARID1B-related disorder in 87 adults: Natural history and self-sustainability Open
View article: Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature
Deep phenotyping of the neuroimaging and skeletal features in KBG syndrome: a study of 53 patients and review of the literature Open
Background KBG syndrome is caused by haploinsufficiency of ANKRD11 and is characterised by macrodontia of upper central incisors, distinctive facial features, short stature, skeletal anomalies, developmental delay, brain malformations and …
View article: Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders Open
DNA sequencing-based studies of neurodevelopmental disorders (NDDs) have identified a wide range of genetic determinants. However, a comprehensive analysis of these data, in aggregate, has not to date been performed. Here, we find that gen…
View article: A Genetic Etiology Identified for a Form of Familial Polyvalvular Dysplasia
A Genetic Etiology Identified for a Form of Familial Polyvalvular Dysplasia Open
View article: Coffin-Siris syndrome and cancer susceptibility
Coffin-Siris syndrome and cancer susceptibility Open
Coffin-Siris syndrome (CSS) is a rare neurodevelopmental disorder that is associated with multiple congenital anomalies and caused by de novo monoallelic germline pathogenic variants in BAF-complex genes. Despite their function as tumor su…
View article: One Year into the COVID-19 Pandemic: an Update on Medical Student Experiences and Well-being
One Year into the COVID-19 Pandemic: an Update on Medical Student Experiences and Well-being Open
View article: Addressing underrepresentation in genomics research through community engagement
Addressing underrepresentation in genomics research through community engagement Open
View article: Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders
Functional correlation of genome‐wide DNA methylation profiles in genetic neurodevelopmental disorders Open
An expanding range of genetic syndromes are characterized by genome-wide disruptions in DNA methylation profiles referred to as episignatures. Episignatures are distinct, highly sensitive, and specific biomarkers that have recently been ap…
View article: Evidence for an association between <scp>Coffin‐Siris</scp> syndrome and congenital diaphragmatic hernia
Evidence for an association between <span>Coffin‐Siris</span> syndrome and congenital diaphragmatic hernia Open
Coffin‐Siris syndrome (CSS) is an autosomal dominant neurodevelopmental syndrome that can present with a variety of structural birth defects. Pathogenic variants in 12 genes have been shown to cause CSS. Most of these genes encode proteins…
View article: Brain Abnormalities in Patients with Germline Variants in<i>H3F3</i>: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors
Brain Abnormalities in Patients with Germline Variants in<i>H3F3</i>: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors Open
Imaging phenotypes in germline H3F3-affected individuals are related to brain features, including a small posterior fossa as well as dysgenesis of the corpus callosum, cortical developmental abnormalities, and deformity of lateral v…
View article: Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire 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: Language Impairments in Individuals With Coffin-Siris Syndrome
Language Impairments in Individuals With Coffin-Siris Syndrome Open
Coffin-Siris syndrome (CSS, MIM 135900) is a now well-described, multiple congenital anomaly/intellectual disability syndrome classically characterized by fifth digit/nail hypoplasia, coarse facial features, and a range of organ-system rel…
View article: Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders
Novel diagnostic DNA methylation episignatures expand and refine the epigenetic landscapes of Mendelian disorders Open
View article: Novel variants in <i>KAT6B</i> spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms
Novel variants in <i>KAT6B</i> spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms Open
The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B ( KAT6B , a.k.a. MORF , MYST4 ) results in several interrelated syndromes including Say‐Barber‐Biesecker‐Young‐Simpson Syndrome and Genitopatella…
View article: Expanding the phenotype of <scp><i>ASXL3</i></scp>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <scp><i>ASXL3</i></scp>
Expanding the phenotype of <span><i>ASXL3</i></span>‐related syndrome: A comprehensive description of 45 unpublished individuals with inherited and de novo pathogenic variants in <span><i>ASXL3</i></span> Open
The study aimed at widening the clinical and genetic spectrum of ASXL3 ‐related syndrome, a neurodevelopmental disorder, caused by truncating variants in the ASXL3 gene. In this international collaborative study, we have undertaken a detai…
View article: Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome
Genotype-Phenotype Correlations in 208 Individuals with Coffin-Siris Syndrome Open
Coffin-Siris syndrome (CSS, MIM 135900) is a multi-system intellectual disability syndrome characterized by classic dysmorphic features, developmental delays, and organ system anomalies. Genes in the BRG1(BRM)-associated factors (BAF, Brah…
View article: EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum Open
View article: Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction Open
View article: Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia
Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia Open
View article: Additional file 1 of EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum
Additional file 1 of EIF3F-related neurodevelopmental disorder: refining the phenotypic and expanding the molecular spectrum Open
Additional file 1: Table S1. Detailed clinical information.
View article: De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females
De novo loss-of-function variants in X-linked MED12 are associated with Hardikar syndrome in females Open
View article: Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction
Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction Open
Whereas large-scale statistical analyses can robustly identify disease-gene relationships, they do not accurately capture genotype-phenotype correlations or disease mechanisms. We use multiple lines of independent evidence to show that dif…
View article: EIF3F-related neurodevelopmental disorder: delineating and expanding the phenotypic and molecular spectrum
EIF3F-related neurodevelopmental disorder: delineating and expanding the phenotypic and molecular spectrum Open
An identical homozygous missense variant in EIF3F, identified through a large-scale genome-wide sequencing approach, was reported as causative in nine individuals with a neurodevelopmental disorder, characterized by variable intellectual d…
View article: Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family
Previously Unidentified Gene Variation Associated with Fabry Disease: The Impact on One Family Open
Fabry disease is an X-linked lysosomal storage genetic disorder associated with over 1000 mutations in the alpha-galactosidase-A gene region. We report here a 69-year-old male who underwent a kidney biopsy to evaluate progressive renal fai…
View article: Mowat-Wilson syndrome: growth charts
Mowat-Wilson syndrome: growth charts Open
View article: Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in <i>ACO2</i>
Expanding the clinical and phenotypic heterogeneity associated with biallelic variants in <i>ACO2</i> Open
Objective We describe the clinical characteristics and genetic etiology of several new cases within the ACO2‐related disease spectrum. Mitochondrial aconitase (ACO2) is a nuclear‐encoded tricarboxylic acid cycle enzyme. Homozygous pathogen…