Michael Setzer
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View article: Merkel cell carcinoma in a patient with Birt-Hogg-Dubé syndrome
Merkel cell carcinoma in a patient with Birt-Hogg-Dubé syndrome Open
View article: “I am sick, but that’s not all that I am”: patient perspectives on psychological adaptation over time to inborn errors of immunity
“I am sick, but that’s not all that I am”: patient perspectives on psychological adaptation over time to inborn errors of immunity Open
Inborn errors of immunity (IEI) are rare heritable disorders of the immune system predisposing to atypical infections, autoimmunity, inflammation, and risk of malignancy. Adaptation is the process of incorporating stressful experiences int…
View article: “I am sick, but that’s not all that I am”: patient perspectives on psychological adaptation to inborn errors of immunity
“I am sick, but that’s not all that I am”: patient perspectives on psychological adaptation to inborn errors of immunity Open
Inborn errors of immunity (IEI) are rare heritable disorders of the immune system predisposing to atypical infections, autoimmunity, inflammation, and risk of malignancy. Adaptation is the process of incorporating stressful experiences int…
View article: N‐acetylcysteine as a treatment for substance use cravings: A meta‐analysis
N‐acetylcysteine as a treatment for substance use cravings: A meta‐analysis Open
N‐acetylcysteine (NAC) may serve as a novel pharmacotherapy for substance use and substance craving in individuals with substance use disorders (SUDs), possibly through its potential to regulate glutamate. Though prior meta‐analyses genera…
View article: Psychological state at the time of psychiatric genetic counseling impacts patient empowerment: A pre–post analysis
Psychological state at the time of psychiatric genetic counseling impacts patient empowerment: A pre–post analysis Open
Psychiatric genetic counseling (GC) has been associated with patient‐reported increases in empowerment (perceived control, emotional regulation, and hope). We sought to evaluate the extent to which patients' psychological state at the time…
View article: N-acetylcysteine as a treatment for substance use cravings: A meta-analysis
N-acetylcysteine as a treatment for substance use cravings: A meta-analysis Open
N-acetylcysteine (NAC) may serve as a novel pharmacotherapy for substance use and substance craving in individuals with substance use disorders (SUDs), possibly through its potential to regulate glutamate. Though prior meta-analyses genera…
View article: Alcohol use disorder and body mass index show genetic pleiotropy and shared neural associations
Alcohol use disorder and body mass index show genetic pleiotropy and shared neural associations Open
Despite neurobiological overlap, alcohol use disorder (AUD) and body mass index (BMI) show minimal genetic correlation (r g ), possibly due to mixed directions of shared variants. We applied MiXeR to investigate shared genetic architecture…
View article: Perceived control is significantly associated with psychological adaptation in individuals with known or suspected inborn errors of immunity
Perceived control is significantly associated with psychological adaptation in individuals with known or suspected inborn errors of immunity Open
View article: Research participants' perspectives about the return of uninformative genomic test results in a clinical research setting
Research participants' perspectives about the return of uninformative genomic test results in a clinical research setting Open
The majority of genomic sequencing and microarray results are clinically uninformative, meaning that they do not suggest a need for any behavioral action or medical intervention. Prior studies have shown that recipients of uninformative ge…
View article: Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity
Chromosomal microarray analysis supplements exome sequencing to diagnose children with suspected inborn errors of immunity Open
Purpose Though copy number variants (CNVs) have been suggested to play a significant role in inborn errors of immunity (IEI), the precise nature of this role remains largely unexplored. We sought to determine the diagnostic contribution of…
View article: Chromosomal Microarray Analysis Supplements Exome Sequencing to Diagnose Children with Suspected Inborn Errors of Immunity
Chromosomal Microarray Analysis Supplements Exome Sequencing to Diagnose Children with Suspected Inborn Errors of Immunity Open
Purpose: Though copy number variants (CNVs) have been suggested to play a significant role in inborn errors of immunity (IEI), the precise nature of this role remains largely unexplored. Thus, we sought to determine the diagnostic contribu…
View article: Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations
Clinical exome sequencing of 1000 families with complex immune phenotypes: Toward comprehensive genomic evaluations Open
View article: The contribution of rare copy number variants in <i>FAS</i> toward pathogenesis of autoimmune lymphoproliferative syndrome
The contribution of rare copy number variants in <i>FAS</i> toward pathogenesis of autoimmune lymphoproliferative syndrome Open
Autoimmune lymphoproliferative syndrome (ALPS) is characterized by chronic nonmalignant lymphadenopathy, splenomegaly, cytopenias, and other autoimmune manifestations. ALPS is caused by lymphocyte accumulation from defects in FAS-mediated …
View article: Exome sequencing study in a clinical research setting finds general acceptance of study returning secondary genomic findings with little decisional conflict
Exome sequencing study in a clinical research setting finds general acceptance of study returning secondary genomic findings with little decisional conflict Open
The most appropriate strategies for managing secondary genomic findings (SF) in clinical research are being developed and evaluated. We surveyed patients at the National Institute of Allergy and Infectious Diseases (NIAID) to evaluate deci…