Stephen R. Braddock
A5074889361- Genomic variations and chromosomal abnormalities
- Congenital heart defects research
- Prenatal Screening and Diagnostics
- Congenital Ear and Nasal Anomalies
- Connective tissue disorders research
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- RNA modifications and cancer
- Fetal and Pediatric Neurological Disorders
- Pregnancy and Medication Impact
- Craniofacial Disorders and Treatments
- Tracheal and airway disorders
- Lysosomal Storage Disorders Research
- Autism Spectrum Disorder Research
- Hedgehog Signaling Pathway Studies
- Immunodeficiency and Autoimmune Disorders
- Genomics and Chromatin Dynamics
- Cleft Lip and Palate Research
- Prenatal Substance Exposure Effects
- Congenital Diaphragmatic Hernia Studies
- Cancer-related molecular mechanisms research
- Tumors and Oncological Cases
- Congenital gastrointestinal and neural anomalies
- Pregnancy and preeclampsia studies
- Ocular Disorders and Treatments
Cardinal Glennon Children’s Medical Center
2015-2025
Saint Louis University
2015-2025
Maternité Port Royal
2024
Assistance Publique – Hôpitaux de Paris
2024
Hudson Institute
2022-2023
Liechtenstein Institute
2023
John Wiley & Sons (United States)
2022-2023
Hanover College
2023
Saint Louis University Hospital
2019-2020
Office of the Director
2019
The genetic testing and screening of children are commonplace. Decisions about whether to offer should be driven by the best interest child. growing literature on psychosocial clinical effects such can help inform practices. This policy statement represents recommendations developed collaboratively American Academy Pediatrics College Medical Genetics Genomics with respect many scenarios in which occur.
In preclinical reproductive studies, leflunomide was found to be embryotoxic and teratogenic. Women treated with are advised avoid pregnancy; those who become pregnant reduce fetal exposure through a cholestyramine drug elimination procedure. The present study undertaken investigate pregnancy outcomes in women received were during pregnancy.Sixty-four rheumatoid arthritis (RA) (95.3% of whom cholestyramine), 108 RA not leflunomide, 78 healthy enrolled prospective cohort between 1999 2009....
P450 oxidoreductase deficiency (PORD) is a unique congenital adrenal hyperplasia variant that manifests with glucocorticoid deficiency, disordered sex development (DSD), and skeletal malformations. No comprehensive data on genotype-phenotype correlations in Caucasian patients are available.The objective of the study was to establish large PORD cohort.The design clinical, biochemical, genetic assessment including multiplex ligation-dependent probe amplification (MLPA) 30 from 11 countries.We...
Findings from animal studies have suggested that leflunomide may be a human teratogen. In the only cohort study published to date, an increase in adverse outcomes pregnancies after exposure was not detected. The aim of present analysis expand on previously data with description birth among women who did meet previous criteria but were exposed either during pregnancy or prior conception.Data exposures and collected 45 pregnant had contacted counseling services Organization Teratology...
Transcription factors operate in developmental processes to mediate inductive events and cell competence, perturbation of their function or regulation can dramatically affect morphogenesis, organogenesis, growth. We report that a narrow spectrum amino-acid substitutions within the transactivation domain v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog (MAF), leucine zipper-containing transcription factor AP1 superfamily, profoundly development. Seven different de novo missense...
Background Information is needed on the safety of adalimumab when used in pregnancy for treatment certain autoimmune diseases. Methods and findings Between 2004 2016, Organization Teratology Specialists Research Center at University California San Diego conducted a prospective controlled observational cohort study 602 pregnant women who had or not taken adalimumab. Women adalimumab-exposed received least one dose drug first trimester rheumatoid arthritis Crohn's Disease (N = 257). disease...
Polymicrogyria is the most commonly diagnosed cortical malformation and associated with neurodevelopmental sequelae including epilepsy, motor abnormalities, cognitive deficits. frequently co-occurs other brain malformations or as part of syndromic diseases. Past studies polymicrogyria have defined heterogeneous genetic nongenetic causes but explained only a small fraction cases.
Abstract Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome. This study of had two objectives. The first was to further describe the features. In order do so, clinical geneticists were asked submit cases—providing photographs and completing phenotype questionnaire for individuals in whom they felt diagnosis secure. All submitted cases reviewed by four diagnosticians familiar with agreed upon 48 previously unpublished individuals. Our data on these show that variably...
Mutations or deletions involving ZFHX1B (previously SIP1) have recently been found to cause one form of syndromic Hirschsprung disease (HSCR), associated with microcephaly, mental retardation, and distinctive facial features. Patients the characteristic phenotype severe but without HSCR, now also shown mutations in this gene. are frequently other congenital anomalies, including heart disease, hypospadias, renal tract agenesis corpus callosum (ACC). We present clinical data mutation analysis...
A recent clinical trial of controlled-release carbidopa/levodopa preparation afforded us the opportunity to examine effects chronically increasing circulating 3-O-methyldopa (OMD) levels on response levodopa. In patients taking standard Sinemet, both mean plasma OMD and area under concentration- versus-time curve (AUC) obtained during 8-hour periods blood sampling correlated highly with total daily intake formulation, levodopa was doubled. This, in turn, led a doubling level its AUC, whereas...
<h3>Background</h3> The identification of the molecular basis mitochondrial disorders continues to be challenging and expensive. increasing usage next-generation sequencing is facilitating discovery genetic aetiology heterogeneous phenotypes associated with these conditions. Coenzyme Q<sub>10</sub> (CoQ<sub>10</sub>) an essential cofactor for respiratory chain complexes other biochemical pathways. Mutations in genes involved CoQ<sub>10</sub> biosynthesis cause primary deficiency syndromes...
Myelin Regulatory Factor (MYRF) is a transcription factor that has previously been associated with the control of expression myelin‐related genes. However, it highly expressed in human tissues and mouse embryonic outside nervous system such as stomach, lung, small intestine. It not reported cause any Mendelian disease. We report here two males Scimitar syndrome [MIM 106700], other features including penoscrotal hypospadias, cryptorchidism, pulmonary hypoplasia, tracheal anomalies, congenital...
Abstract Background Most congenital defects associated with prenatal exposures are notable for a pattern of major and minor malformations, rather than single malformation. Thus, traditional epidemiological methods not universally effective in identifying new teratogens. The purpose this report is to outline complementary approach that can be used addition other more established provide the most comprehensive evaluation respect teratogenicity. Methods We describe multicenter prospective...
Abstract Autism spectrum disorders (ASD) comprise a class of neurodevelopmental that can originate from variety genetic and environmental causes. To delineate autism's heterogeneity we have looked for biologically‐based phenotypes found in consistent proportions ASD individuals. One informative phenotype is generalized dysmorphology, based on whole body examinations by medical geneticists trained the nuances anomalous embryologic development. We identified need dysmorphology measure could be...
Syndromic sensorineural hearing loss is multigenic and associated with malformations of the ear other organ systems. Herein we describe a child admitted to NIH Undiagnosed Diseases Program global developmental delay, loss, gastrointestinal abnormalities, absent salivation. Next-generation sequencing revealed uniparental isodisomy in chromosome 5, 22 kb homozygous deletion SLC12A2, which encodes for sodium, potassium, chloride transporter basolateral membrane secretory epithelia. Functional...
Findings from previous small studies have been reassuring regarding the safety of treatment with hydroxychloroquine (HCQ) during pregnancy. In one recent study, it was demonstrated that frequency major birth defects increased in women who had received HCQ at a dose ≥400 mg/day This study undertaken to examine pregnancy outcomes among following use HCQ.