Chad R. Haldeman‐Englert
A5006753163- Genomic variations and chromosomal abnormalities
- Genomics and Rare Diseases
- Congenital heart defects research
- Genetics and Neurodevelopmental Disorders
- Craniofacial Disorders and Treatments
- Prenatal Screening and Diagnostics
- Congenital Ear and Nasal Anomalies
- Genetic Syndromes and Imprinting
- Chromosomal and Genetic Variations
- Cleft Lip and Palate Research
- Neurogenetic and Muscular Disorders Research
- Connective tissue disorders research
- Cancer-related gene regulation
- RNA modifications and cancer
- Eosinophilic Disorders and Syndromes
- Urological Disorders and Treatments
- Fibroblast Growth Factor Research
- Erythrocyte Function and Pathophysiology
- Tumors and Oncological Cases
- Clinical Reasoning and Diagnostic Skills
- Cancer Genomics and Diagnostics
- Genetic and Kidney Cyst Diseases
- Connexins and lens biology
- Signaling Pathways in Disease
- dental development and anomalies
Mission Health
2021-2023
Université Claude Bernard Lyon 1
2023
Centre National de la Recherche Scientifique
2023
Institut NeuroMyoGène
2023
Hospices Civils de Lyon
2023
Inserm
2023
University of Florence
2023
Fullerton College
2015-2017
Accreditation Council for Graduate Medical Education
2017
Wake Forest University
2010-2016
We present a database of copy number variations (CNVs) detected in 2026 disease-free individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort, comprised mainly Caucasians (65.2%) and African-Americans (34.2%), was analyzed for CNVs single study uniform array platform computational process. have catalogued characterized 54,462 individual CNVs, 77.8% which were identified multiple unrelated individuals. These nonunique mapped to 3272 distinct regions genomic...
It is currently unknown how often and in which ways a genetic diagnosis given to patient with epilepsy associated clinical management outcomes. To evaluate diagnoses patients are This was retrospective cross-sectional study of referred for multigene panel testing between March 18, 2016, August 3, 2020, outcomes reported May November 2020. The setting included commercial laboratory multicenter practices. Patients epilepsy, regardless sociodemographic features, who received pathogenic/likely...
Boyadjiev SA, Kim S‐D, Hata A, Haldeman‐Englert C, Zackai EH, Naydenov Hamamoto S, Schekman RW, J. Cranio‐lenticulo‐sutural dysplasia associated with defects in collagen secretion. (CLSD) is a rare autosomal recessive syndrome manifesting large and late‐closing fontanels calvarial hypomineralization, Y‐shaped cataracts, skeletal defects, hypertelorism other facial dysmorphisms. The CLSD locus was mapped to chromosome 14q13‐q21 homozygous SEC23A F382L missense mutation identified the original...
Background: The Helix Research Network TM program is a large population genomics initiative that screens an all-comers of patients for CDC Tier 1 genetic conditions, including familial hypercholesterolemia (FH). We evaluated changes in clinical management and LDL cholesterol (LDL-C) levels among we identified to have FH. Methods: Participants across eight U.S. health systems provided samples underwent clinical-grade exome sequencing. Individuals with positive screening result condition were...
Deletions of the 22q11.2 region distal to 22q11.21 microdeletion syndrome have recently been described in individuals with mental retardation and congenital anomalies. Because these deletions are mediated by low-copy repeats (LCRs), located DiGeorge/velocardiofacial region, duplications predicted occur a frequency equal deletion. However, few microduplications this reported. We report identification 18 22q11.21–q11.23. The duplication boundaries for all within LCRs region. Clinical records...
Abstract Pallister–Killian syndrome (PKS) is a multisystem sporadic genetic condition characterized by facial anomalies, variable developmental delay and intellectual impairment, hypotonia, hearing loss, seizures, pigmentary skin differences, temporal alopecia, diaphragmatic hernia, congenital heart defects, other systemic abnormalities. PKS typically caused the presence of supernumerary isochromosome composed short arms chromosome 12 resulting in tetrasomy 12p, which often present tissue...
Abstract We report here on a normal‐appearing male with pervasive developmental disorder who was found to have de novo, apparently balanced complex rearrangement involving chromosomes 6, 10, and 21: 46,XY,ins(21;10)(q11.2;p11.2p13)t(6;21)(p23;q11.2). Further analysis by high‐density oligonucleotide microarray performed, showing an 8.8‐Mb heterozygous deletion at 21q21.1–q21.3. Interestingly, the is distal translocation breakpoint chromosome 21. The involves 19 genes, including NCAM2 GRIK1 ,...
Haploinsufficiency of the elastin gene (ELN) on 7q11.23 is responsible for supravalvular aortic stenosis (SVAS) and other arteriopathies in patients with Williams-Beuren syndrome (WBS). These defects occur variable penetrance expressivity, but basis this unknown. To determine whether DNA variations ELN could serve as genetic modifiers, we sequenced 33 exons immediately surrounding sequence (9,455 bp sequence) 49 DNAs from WBS compared cardiovascular phenotypes. Four missense, four novel...
We characterize the clinical and molecular phenotypes of six unrelated individuals with intellectual disability autism spectrum disorder who carry heterozygous missense variants PRKAR1B gene, which encodes R1β subunit cyclic AMP-dependent protein kinase A (PKA).
Ollier disease (OD) and Maffucci Syndrome (MS) are rare disorders characterized by multiple enchondromas, commonly causing bone deformities, limb length discrepancies, pathological fractures. MS is distinguished from OD the development of vascular anomalies. Both cancer predisposition syndromes with malignancies developing in ~50% individuals or MS. Somatic gain-of-function variants IDH1 IDH2 have been described anomalies chondrosarcomas approximately 80% To date, however, no investigation...
Rare copy number variations (CNVs) are a recognized cause of common human disease. Predicting the genetic element(s) within small CNV whose loss or gain underlies specific phenotype might be achieved reasonably rapidly for single patients. Identifying biological processes that commonly disrupted large patient cohort which possess larger CNVs, however, requires more objective approach exploits genomic resources. In this study, we first identified 98 large, rare CNVs patients exhibiting...
Usher syndrome is an autosomal recessive condition characterized by retinitis pigmentosa (RP) and congenital hearing loss, with or without vestibular dysfunction. Allelic variants of CDH23 cause both type 1D (USH1D) a form nonsyndromic loss (DFNB12). The authors describe here 34-year-old patient new diagnosis sector RP who was found to have two novel compound heterozygous mutations in , including one missense (c.8530C > A; p.Pro2844Thr) splice-site (c.5820 + 5G A) mutation. This the first...
Loeys-Dietz syndrome (LDS) is an autosomal dominant connective tissue condition with clinical features that may include ocular hypertelorism, cleft palate, craniosynostosis, and vascular dilation tortuosity. Here we describe a patient LDS confirmed by genetic analysis (R528H mutation of TGFBR2) who presented at 3 months age in respiratory distress unknown origin. In addition to expressing several the classic findings LDS, including novel finding squamosal suture CT angiography revealed...
Abstract Interstitial deletions of 18q lead to a number phenotypic features, including multiple types foot deformities. Many these associated phenotypes have had their critical regions narrowly defined. Here we report on three patients with small overlapping chromosome determined by microarray analysis (chr18:72493281–73512553 hg19 coordinates). All the congenital vertical talus (CVT). Based findings and previous reports in literature databases, narrow region for CVT minimum five genes (...