Search Results - "Meyer, Brian"
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Identification of pharmacogenetic variants from large scale next generation sequencing data in the Saudi population
Published in PloS one (28-01-2022)“…It is well documented that drug responses are related to Absorption, Distribution, Metabolism, and Excretion (ADME) characteristics of individual patients…”
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Frontiers in assessing septic systems vulnerability in coastal Georgia, USA: Modeling approach and management implications
Published in PloS one (25-08-2021)“…Threats to public health and environmental quality from septic systems are more prevalent in areas with poorly draining soils, high water tables, or frequent…”
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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population
Published in American journal of human genetics (06-06-2019)“…We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of…”
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Transcending Self Therapy: Four-Session Individual Integrative Cognitive-Behavioral Treatment: A Case Report
Published in Psychological services (01-11-2022)“…Effective treatments for Substance Use Disorders (SUDs) are of critical importance, particularly among veterans. We present a successful application of…”
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Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development
Published in Brain (London, England : 1878) (01-07-2018)“…Ufmylation is the post-translational modification of proteins through the addition of UFM1. Nahorksi et al. identify mutations in UFM1 and in UFC1, which…”
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An industry perspective on the monitoring of subvisible particles as a quality attribute for protein therapeutics
Published in Journal of pharmaceutical sciences (01-08-2010)“…Concern around the lack of monitoring of proteinaceous subvisible particulates in the 0.1-10 microm range has been heightened (Carpenter et al., 2009, J Pharm…”
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Novel Homozygous Variants of SLC13A5 Expand the Functional Heterogeneity of a Homogeneous Syndrome of Early Infantile Epileptic Encephalopathy
Published in Pediatric neurology (01-02-2024)“…Early infantile epileptic encephalopathy 25 (EIEE25) is a distinct type of neonatal epileptic encephalopathy caused by autosomal recessive mutations in the…”
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Yoga for Warriors: An Intervention for Veterans With Comorbid Chronic Pain and PTSD
Published in Psychological trauma (01-11-2020)“…Objective: Comorbid chronic pain and posttraumatic stress disorder (PTSD) is common in veterans; this comorbidity is associated with increased severity and…”
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Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families
Published in Cell reports (Cambridge) (13-01-2015)“…Our knowledge of disease genes in neurological disorders is incomplete. With the aim of closing this gap, we performed whole-exome sequencing on 143 multiplex…”
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Laboratory Degradation Rates of 11 Pyrethroids under Aerobic and Anaerobic Conditions
Published in Journal of agricultural and food chemistry (22-05-2013)“…Degradation of 11 pyrethroids was measured over approximately 100 days in three sediment/water systems under aerobic and anaerobic conditions at 25 °C in the…”
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Molecular Analysis of Congenital Hypothyroidism in Saudi Arabia: SLC26A7 Mutation Is a Novel Defect in Thyroid Dyshormonogenesis
Published in The journal of clinical endocrinology and metabolism (01-05-2018)“…Abstract Context Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, affecting one in 3000 to 4000 newborns. Since the introduction…”
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Association of a Mutation in LACC1 With a Monogenic Form of Systemic Juvenile Idiopathic Arthritis
Published in Arthritis & rheumatology (Hoboken, N.J.) (01-01-2015)“…Objective The pathologic basis of systemic juvenile idiopathic arthritis (JIA) is a subject of some controversy, with evidence for both autoimmune and…”
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Clinical and genetic characteristics of 15 families with hereditary hypophosphatemia: Novel Mutations in PHEX and SLC34A3
Published in PloS one (05-03-2018)“…Hereditary hypophosphatemia is a group of rare renal phosphate wasting disorders. The diagnosis is based on clinical, radiological, and biochemical features,…”
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Concomitant RAS, RET/PTC, or BRAF mutations in advanced stage of papillary thyroid carcinoma
Published in Thyroid (New York, N.Y.) (01-08-2014)“…RET/PTC rearrangement, RAS, and BRAF mutations are considered to be mutually exclusive in papillary thyroid carcinoma (PTC). However, although concomitant…”
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A genome-wide association study reveals susceptibility loci for myocardial infarction/coronary artery disease in Saudi Arabs
Published in Atherosclerosis (01-02-2016)“…Abstract Background Multiple loci have been identified for coronary artery disease (CAD) by genome-wide association studies (GWAS), but no such studies on CAD…”
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Functional analysis of 22 splice-site mutations in the PHEX, the causative gene in X-linked dominant hypophosphatemic rickets
Published in Bone (New York, N.Y.) (01-08-2019)“…X-linked hypophosphatemic rickets (XLH) is caused by inactivating mutations in the PHEX gene and is the most common form of hereditary rickets. The splice-site…”
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Insights of Noncanonical Splice-site Variants on RNA Splicing in Patients With Congenital Hypothyroidism
Published in The journal of clinical endocrinology and metabolism (17-02-2022)“…Congenital hypothyroidism (CH) is caused by mutations in the genes for thyroid hormone synthesis. In our previous investigation of CH patients, approximately…”
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Immune response and reactogenicity of intradermal administration versus subcutaneous administration of varicella-zoster virus vaccine: an exploratory, randomised, partly blinded trial
Published in The Lancet infectious diseases (01-08-2016)“…Summary Background The licensed live, attenuated varicella-zoster virus vaccine prevents herpes zoster in adults older than 50 years. We aimed to determine…”
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Homozygous Mutations in ADAMTS10 and ADAMTS17 Cause Lenticular Myopia, Ectopia Lentis, Glaucoma, Spherophakia, and Short Stature
Published in American journal of human genetics (13-11-2009)“…Weill-Marchesani syndrome (WMS) is a well-characterized disorder in which patients develop eye and skeletal abnormalities. Autosomal-recessive and…”
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Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis
Published in European journal of cancer (1990) (01-10-2017)“…While dietary fat has been established as a risk factor for colorectal cancer (CRC), associations between fatty acids (FAs) and CRC have been inconsistent…”
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