Julie S. Cohen
A5073365330- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Autism Spectrum Disorder Research
- Congenital heart defects research
- Mitochondrial Function and Pathology
- RNA modifications and cancer
- Cerebral Palsy and Movement Disorders
- Muscle Physiology and Disorders
- RNA regulation and disease
- RNA and protein synthesis mechanisms
- Neurogenetic and Muscular Disorders Research
- Metabolism and Genetic Disorders
- Epilepsy research and treatment
- Neuroscience and Neuropharmacology Research
- Cardiomyopathy and Myosin Studies
- Genetic Neurodegenerative Diseases
- Cellular transport and secretion
- Genomics and Chromatin Dynamics
- Ion Transport and Channel Regulation
- Urinary and Genital Oncology Studies
- Bladder and Urothelial Cancer Treatments
- Lysosomal Storage Disorders Research
- ATP Synthase and ATPases Research
- BRCA gene mutations in cancer
Kennedy Krieger Institute
2016-2025
Johns Hopkins University
2013-2024
Johns Hopkins Medicine
2019-2024
Janssen (United States)
2023
Filadelfia
2021
University of Southern Denmark
2021
Maastricht University
2021
Kempenhaeghe
2021
Établissement Français du Sang
2019-2020
Johns Hopkins Hospital
2017
Whole exome sequencing (WES) represents a significant breakthrough in clinical genetics as powerful tool for etiological discovery neurodevelopmental disorders. To better characterize the genetic landscape of disorders, we analyzed patients our pediatric neurogenetics clinic who underwent WES.We performed retrospective cohort study on 78 with various disabilities and unrevealing workup prior to WES. We characterized their molecular diagnoses, features, whether previous treatment plan changed...
Numerous studies have demonstrated increased load of de novo copy number variants or single nucleotide in individuals with neurodevelopmental disorders, including epileptic encephalopathies, intellectual disability, and autism.We searched for mutations a family quartet sporadic case encephalopathy no known etiology to determine the underlying cause using high-coverage whole exome sequencing (WES) lower-coverage genome sequencing. Mutations additional patients were identified by WES. The...
To evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations predicted functional consequences based on structural modeling.We reviewed data of 21 patients (7 previously published) with DNM1 mutations. We compared mutation known undertook biomolecular modeling assess effect function.We identified 19 de novo a sibling pair who had an inherited from mosaic parent. Seven (33.3%)...
Sphingolipid imbalance is the culprit in a variety of neurological diseases, some affecting myelin sheath. We have used whole-exome sequencing patients with undetermined leukoencephalopathies to uncover endoplasmic reticulum lipid desaturase DEGS1 as causative gene 19 from 13 unrelated families. Shared features among cases include severe motor arrest, early nystagmus, dystonia, spasticity, and profound failure thrive. MRI showed hypomyelination, thinning corpus callosum, progressive thalamic...
Neurofibromatosis type 1 ( NF1 ) carries a significant psychosocial burden for affected individuals. The objective of this study was to measure the prevalence depressive symptoms among large sample adults with and quantify impact on quality life QoL ). This cross‐sectional used an Internet‐based questionnaire collect data from 498 who self‐reported as having . Using Center Epidemiologic Studies Depression (CESD) scale, 55% all participants (61% females 43% males) scored above 16, indicating...
Elongator is a multi‐subunit protein complex essential to transcription elongation, histone acetylation, and tRNA modification. The consists of six highly conserved subunits, called Proteins (ELP) 1–6. Apart from an association with intellectual disability (ID), there limited clinical information about patients ELP2 variants. Here we report on two brothers severe ID, spastic diplegia, self‐injury whose presentation eluded diagnosis for over 20 years. In both brothers, whole exome sequencing...
SATB2‐associated syndrome (SAS) is an autosomal dominant disorder characterized by significant neurodevelopmental disabilities with limited to absent speech, behavioral issues, and craniofacial anomalies. Previous studies have largely been restricted case reports small series without in‐depth phenotypic characterization or genotype‐phenotype correlations. Seventy two study participants were identified as part of the SAS clinical registry. Individuals a molecularly confirmed diagnosis...
Pathogenic de novo variants in the X-linked gene SLC35A2 encoding major Golgi-localized UDP-galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder known as SLC35A2-congenital disorders (CDG; formerly CDG-IIm). To date, 29 unique from 32 unrelated individuals have been described literature. The majority affected are primarily characterized by varying degrees neurological impairments with or without skeletal abnormalities....
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...
Germline loss-of-function variants in CTNNB1 cause neurodevelopmental disorder with spastic diplegia and visual defects (NEDSDV; OMIM 615075) are the most frequent, recurrent monogenic of cerebral palsy (CP). We investigated range clinical phenotypes owing to disruptions determine association between NEDSDV CP.Genetic information from 404 individuals collectively 392 pathogenic were ascertained for study. From these, detailed 52 previously unpublished collected combined 68 published...
The γ-aminobutyric acid type A (GABAA ) receptor is one of the three main classes receptors activated by GABA, principal inhibitory neurotransmitter in central nervous system. Mutations genes encoding various subunits this (GABRA1, GABRA2, GABRA4, GABRA5, GABRA6, GABRB1, GABRB3, GABRG1, GABRG2, GABRG3, and GABRD) are implicated a number neurological developmental disorders, including epilepsy autism. To date, no human genetics studies have mutations GABRB2, β2 subunit GABAA receptor, with...
Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS caused de novo germline mutations clustering to 12bp hotspot in exon 4 SETBP1. Mutations this disrupt degron, signal for the regulation protein degradation, lead accumulation SETBP1 protein. Overlapping have been observed recurrently as somatic events leukemia. We collected clinical information 47 patients (including...