A5049261938- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- Congenital heart defects research
- Prenatal Screening and Diagnostics
- Connective tissue disorders research
- Congenital Anomalies and Fetal Surgery
- Metabolism and Genetic Disorders
- Neurogenetic and Muscular Disorders Research
- Congenital Diaphragmatic Hernia Studies
- Neuroscience and Neuropharmacology Research
- Tracheal and airway disorders
- Genetic Syndromes and Imprinting
- Genomics and Chromatin Dynamics
- Chromosomal and Genetic Variations
- Ubiquitin and proteasome pathways
- BRCA gene mutations in cancer
- Pediatric Hepatobiliary Diseases and Treatments
- Tissue Engineering and Regenerative Medicine
- Hereditary Neurological Disorders
- Ethics and Legal Issues in Pediatric Healthcare
- Chromatin Remodeling and Cancer
- Dermatological and Skeletal Disorders
- Williams Syndrome Research
- Amino Acid Enzymes and Metabolism
Morgan Stanley Children's Hospital
2018-2024
Columbia University
2022-2024
Columbia University Irving Medical Center
2018-2023
Presbyterian Hospital
2023
New York Hospital Queens
2023
NewYork–Presbyterian Hospital
2023
Texas Health Dallas
2022
University of Virginia
2021
University School
2021
Children's Hospital at Montefiore
2012-2019
NBEA is a candidate gene for autism, and de novo variants have been reported in neurodevelopmental disease (NDD) cohorts. However, has not rigorously evaluated as gene, associated phenotypes delineated. We identified 24 patients with NDD, establishing an NDD gene. Most had epilepsy onset the first few years of life, often characterized by generalized seizure types, including myoclonic atonic seizures. Our data show broader phenotypic spectrum than previously described, myoclonic‐astatic...
Coffin-Siris and Nicolaides-Baraitser syndromes are recognizable neurodevelopmental disorders caused by germline variants in BAF complex subunits. The SMARCC2 BAFopathy was recently reported. Herein, we present clinical molecular data on a large cohort.Clinical symptoms for 41 novel 24 previously published affected individuals were analyzed using the Human Phenotype Ontology. For genotype-phenotype correlations, standardized grouped into non-truncating likely gene-disrupting (LGD) variants....
Abstract Objective ITPR3 , encoding inositol 1,4,5‐trisphosphate receptor type 3, was previously reported as a potential candidate disease gene for Charcot‐Marie‐Tooth neuropathy. Here, we present genetic and functional evidence that is gene. Methods Whole‐exome sequencing of four affected individuals in an autosomal dominant family one individual who the only his used to identify disease‐causing variants. Skin fibroblasts from two were analyzed functionally by western blotting, quantitative...
Rare inherited missense variants in SLC32A1, the gene that encodes vesicular gamma-aminobutyric acid (GABA) transporter, have recently been shown to cause genetic epilepsy with febrile seizures plus. We aimed clarify if de novo SLC32A1 can also impaired neurodevelopment.Using exome sequencing, we identified four individuals a developmental and epileptic encephalopathy SLC32A1. To assess causality, performed functional evaluation of murine neuronal cell culture model.The main phenotype...
Reports of interstitial deletions involving proximal long arm chromosome 2 are limited. Based on early chromosomal analysis studies, the phenotypic consequence at ancestral fusion site 2q13q14.1 remains unclear. A recurrent 1.71 Mb deletion 2q13 has recently been proposed as a new genomic disorder, associated with an increased risk intellectual disability and craniofacial dysmorphism. Herein, we report case 12 year-old girl unique clinical features including global developmental delay,...
Abstract Myhre syndrome is an increasingly diagnosed rare that caused by one of two specific heterozygous gain‐of‐function pathogenic variants in SMAD4 . The phenotype includes short stature, characteristic facial appearance, hearing loss, laryngotracheal stenosis, arthritis, skeletal abnormalities, learning and social challenges, distinctive cardiovascular defects, a striking fibroproliferative response the ear canals, airways, serosal cavities (peritoneum, pleura, pericardium)....
1. Elaine Pereira, MD* 2. Robert Marion, MD* 1. *Children’s Hospital at Montefiore, Bronx, NY. 1. Jones KL, 2. Crandall M, 3. del Campo M 22q11.2 Microdeletion Syndrome (Velo-Cardio-Facial Syndrome, DiGeorge Shprintzen Syndrome). In: eds . Smith’s Recognizable Patterns of Human Malformation. 7th ed. Philadelphia, PA: Elsevier Saunders; 2013:358–361 2. McDonald-McGinn DM, Sullivan KE Chromosome Deletion (DiGeorge Syndrome/Velocardiofacial KE. Medicine (Baltimore). 2011;90(1):1–18 ...
The chromosome 3q29 microdeletion syndrome is characterized by a clinical phenotype that includes behavioral features consistent with autism and attention deficit hyperactivity disorder, mild to moderate developmental delay, language-based learning disabilities, and/or dysmorphic features. In addition, recent data suggest adults microdeletions have significantly increased risk for psychosis neuropsychiatric phenotypes. We report 3-year-old male global anemia, facial Clinical chromosomal...
Vacuolar ATPases (V-ATPases) are large multisubunit proton pumps conserved among all eukaryotic cells that involved in diverse functions including acidification of membrane-bound intracellular compartments. The ATP6AP1 gene encodes an accessory subunit the vacuolar (V)-ATPase protein pump. Pathogenic variants have been described association with a congenital disorder glycosylation (CDG), which highly variable, but often characterized by immunodeficiency, hepatopathy, and neurologic...
Abstract Objective The postsynaptic density protein of excitatory neurons PSD‐95 is encoded by discs large MAGUK scaffold 4 ( DLG4 ), de novo pathogenic variants which lead to ‐related synaptopathy. major clinical features are developmental delay, intellectual disability (ID), hypotonia, sleep disturbances, movement disorders, and epilepsy. Even though epilepsy present in 50% the individuals, it has not been investigated detail. We describe here phenotypic spectrum associated comorbidities...
Abstract We report a case of newly recognized primary immunodeficiency due to biallelic mutations in CARMIL2 manifesting as an actinic prurigo‐like photodermatitis, allergic diathesis and recurrent infections child. present this highlight rare phenotype seen T‐cell provide overview other dermatologic manifestations among published reports condition.
Abstract Background Pathogenic variants in KDM5C are a cause of X-linked intellectual disability males. Other features males include short stature, dysmorphic features, seizures and spasticity. In some instances, female relatives were noted to have learning difficulties mild disabilities, but full phenotypic descriptions often incomplete. Recently, detailed five affected females with de novo described. (Clin Genet 98:43–55, 2020) Four individuals had protein truncating variant 1 individual...
Abstract The increased utilization of clinical genomic sequencing in the past decade has ushered era medicine, requiring genetics providers to acquire new skills and adapt their practices. change workplace responsibilities clinical/medical geneticists (CMGs) genetic counselors (GCs) North America, due evolution testing, not been studied. We surveyed CMGs ( n = 80) GCs 127) with experience general/pediatric describe current practice tasks regularity performing these over 5–10 years....
Abstract Ehlers‐Danlos syndrome, hypermobility type (hEDS) is a heritable connective tissue disorder that currently does not have known molecular etiology. Previous studies explored the complex symptomology, clinical diagnosis, and psychological aspects of hEDS. Genetics providers aid in diagnosis management guidance patients with hEDS, but there limited data describing needs expectations individuals hEDS from genetics appointment. Our study sought to explore these items through use an...