Emma Bedoukian
A5069224754- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Retinal Development and Disorders
- Genetics and Neurodevelopmental Disorders
- Retinal Diseases and Treatments
- Congenital heart defects research
- Hedgehog Signaling Pathway Studies
- Cancer Genomics and Diagnostics
- Genetic Syndromes and Imprinting
- Retinal and Macular Surgery
- Autism Spectrum Disorder Research
- Ear Surgery and Otitis Media
- Glaucoma and retinal disorders
- Epigenetics and DNA Methylation
- Genomics and Chromatin Dynamics
- Renal and related cancers
- RNA modifications and cancer
- Cellular transport and secretion
- Hearing, Cochlea, Tinnitus, Genetics
- Cardiomyopathy and Myosin Studies
- Metabolism and Genetic Disorders
- Biochemical and Molecular Research
- Ubiquitin and proteasome pathways
- Congenital limb and hand anomalies
- Drug-Induced Ocular Toxicity
Children's Hospital of Philadelphia
2016-2025
University of Pennsylvania
2016-2024
Medical Genetics Center
2018-2020
National Institute of Health
2020
University of British Columbia
2019
Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases
2019
Institute of Molecular Biotechnology
2019
Austrian Academy of Sciences
2019
Clinical exome sequencing (CES) has a reported diagnostic yield of 20% to 30% for most clinical indications. The ongoing discovery novel gene-disease and variant-disease associations are expected increase the CES. Performing systematic reanalysis previously nondiagnostic CES samples represents significant challenge laboratories. Here, we present results automated methodology applied 300 initially analyzed between June 2014 September 2016. Application our reduced variant analysis burden by...
Abstract Wiedemann‐Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized intellectual disability hypertrichosis. We performed a retrospective, multicenter, observational study of 104 individuals with WSS from five continents to characterize the clinical molecular spectrum diverse populations, identify physical features that may be more prevalent White versus Black Indigenous People Color individuals, delineate genotype–phenotype...
Despite substantial progress in sequencing, current strategies can genetically solve only approximately 55-60% of inherited retinal degeneration (IRD) cases. This be partially attributed to elusive mutations the known IRD genes, which are not easily identified by targeted next-generation sequencing (NGS) or Sanger approaches. We hypothesized that copy-number variations (CNVs) a major contributor genetic causality IRDs.Twenty-eight cases previously unsolved with NGS were investigated...
The SLC12 gene family consists of SLC12A1-SLC12A9, encoding electroneutral cation-coupled chloride co-transporters. SCL12A2 has been shown to play a role in corticogenesis and therefore represents strong candidate neurodevelopmental disorder gene. Through trio exome sequencing we identified de novo mutations SLC12A2 six children with disorders. All had developmental delay or intellectual disability ranging from mild severe. Two sensorineural deafness. We also variants three individuals...
Hearing loss is a relatively common condition in children, occurring approximately 2 out of every 1,000 births with 50% reported diagnoses having primary genetic etiology. Given the prevalence and component hearing loss, coupled trend toward early diagnosis institution universal newborn screening, The Genetics Loss Clinic was established at Children's Hospital Philadelphia to manage diagnosis, testing, counseling for individuals families. This paper described cohort 660 evaluated between...
Kaufman oculocerebrofacial syndrome (KOS) is a recessive neurodevelopmental disorder characterized by intellectual disability and lack of speech. KOS caused inactivating mutations in UBE3B, but the underlying biological mechanisms are completely unknown. We found that loss Ube3b mice resulted growth retardation, decreased grip strength, vocalization. The brains Ube3b-/- had hypoplasia corpus callosum, enlarged ventricles, thickness somatosensory cortex. cortical neurons abnormal dendritic...
We aim to characterize the causality and molecular functional underpinnings of HACE1 deficiency in a mouse model recessive neurodevelopmental syndrome called spastic paraplegia psychomotor retardation with or without seizures (SPPRS).By exome sequencing, we identified 2 novel homozygous truncating mutations 3 patients from families, p.Q209* p.R332*. Furthermore, performed detailed phenotypic analyses Hace1 knock-out (KO) mice SPPRS patient fibroblasts.We show that KO display many clinical...
Methods Two sisters ages 16 (proband) and 18 years old their 48-year-old father underwent comprehensive ophthalmic evaluations. Multimodal imaging was performed with spectral domain optical coherence tomography, ultrawide field short-wavelength fundus autofluorescence, pseudocolor imaging.
CREBBP loss‐of function variants cause Rubinstein–Taybi syndrome (RTS). There have been two separate reports of patients with missense in exon 30 or 31 individuals lacking the characteristic facial and limb dysmorphism associated RTS. Frequent features this condition include variable intellectual disability, short stature, autistic behavior, microcephaly, feeding problems, epilepsy, recurrent upper airway infections, mild hearing impairment. We report three further de novo variants. The...
To describe the retinal phenotype of an unusual case anti-TRPM1 autoantibody-positive unilateral melanoma-associated retinopathy (MAR) triggered by nivolumab therapy and compare with
Abstract Xia‐Gibbs syndrome (XGS) is a recently described neurodevelopmental disorder due to heterozygous loss‐of‐function AHDC1 mutations. XGS characterized by global developmental delay, intellectual disability, hypotonia, and sleep abnormalities. Here we report the clinical phenotype of five six individuals with identified prospectively at Children's Hospital Philadelphia, tertiary children's hospital in USA. Although all patients demonstrated common features delay characteristic facial...
Purpose: The purpose of this study was to compare the natural history visual function change in cohorts patients affected with retinal degeneration due biallelic variants Bardet-Biedl syndrome genes: BBS1 and BBS10. Methods: Patients were recruited from nine academic centers six countries (Belgium, Canada, France, New Zealand, Switzerland, United States). Inclusion criteria were: (1) female or male a clinical diagnosis dystrophy, (2) disease-causing BBS10, (3) measures for at least one...