On this page are listed some articles on investigation of genetic causes for various manifestations. All references listed are intended for physicians who see patients investigating genetic diseases. Research flowcharts should be evaluated with caution, as the prevalence of certain genetic conditions can be significantly different in the population for which the flowchart was proposed. Some of the references are restricted to subscribers or for whom institutional access.
Hashkes et al., 2019 - Clinical approach to diagnosis of autoinflammatory disorders
Gaggiano et al., 2019 - Autoinflammatory disorders in adults. Includes useful flowcharts and hints.
Almeida de Jesus et al., 2013 - Includes images and describe the categories for "classical" autoinflammatory disorders.
Valentini et al., 2022 - Diagnostic and prognostic value of low QRS voltages in cardiomyopathies
Monda E et al., 2021 - Nonsarchomeric causes of hypertrophic cardiomyopathy (HCM) in children
Scurr I et al., 2011 - Detailed phenotipic description of Cantú syndrome, a cause of HCM in children
Reid AB et al., 2021 - MELAS case report. Includes a figure comparing findings of MELAS, Anderson-Fabry and HCM
Van Hove et al, 2013 - Late onset MPS IIIA as a cause of HCM without neurologic involvement.
Gupta et al., 2019 - review of NCCN criteria for testing for colorectal cancer predisposition syndromes.
Cohen & Leininger, 2014 - review on the genetic bases of Lynch syndrome
Sereno et al., 2014 - review on MUTYH-associated polyposis
Hedge et al., 2013 - review of the main syndromes associated with susceptibility to colorectal cancer, with criteria for testing.
Zubler et al., 2022 - Revised evidence-based development milestones
ACMG, 2020 - Systematic review on outcomes of exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability
Mithyantha et al., 2017 - Evidence-based recommendations on investigating children with global developmental delay
Gillespie et al., 2014 - Mild elevations of 7-DHC in Lanosterol C14-Demethylase (CYP51A1) a condition associated with isolated or syndromic cataracts
der Velden, et al. 2008 - Cerebrotendinous xanthomatosis with elevated 7-DHC
Witsch-Baumgartner et al., 2000 - Correlation between DHC levels and severity of Smith Lemli Opitz syndrome
Maccari et al., 2003 - elevated heparan sulfate in gel electrophoresis of patients with Pseudoxanthoma elasticum
Schmidt et al., 2016 - elevation of GAGs in septic shock
Thompson J.N., 2003 - includes a useful figure (Fig. 18.4) with a flowchart for conditions with elevated glycosaminoglycans in patients with a clinical impression of MPS