LIG Audit Status

Target	Article	Journal	Status	Outcome	Reviewer	Updated
caucasian	["Genetic counseling student demographics: an empirical comparison of two cohorts"] article 43600051	Journal of Genetic Counseling 2020	reviewed	confirmed caucasian	georgina	2026-05-19 21:53
caucasian	["A case–control genome wide association study of substance use disorder (SUD) identifies novel variants on chromosome 7p14.1 in patients from the United Arab Emirates (UAE)"] article 59414975	American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2018	reviewed	confirmed caucasian	georgina	2026-05-19 21:46
caucasian	["Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel <i>HPS6</i> missense variant"] article 60580025	American Journal of Medical Genetics Part A 2018	reviewed	confirmed caucasian	georgina	2026-05-19 21:46
caucasian	["A novel <i>AXIN2</i> gene mutation in sagittal synostosis"] article 62719976	American Journal of Medical Genetics Part A 2018	reviewed	confirmed caucasian	georgina	2026-05-19 21:46
caucasian	["Cole‐Carpenter syndrome in a patient from Thailand"] article 62845032	American Journal of Medical Genetics Part A 2018	reviewed	confirmed caucasian	georgina	2026-05-19 21:46
caucasian	["Genetic aspects of Huntington's disease in Latin America. A systematic review"] article 89016947	Clinical Genetics 2015	reviewed	confirmed caucasian	georgina	2026-05-19 21:47
caucasian	["Who is at Risk for Compassion Fatigue? An Investigation of Genetic Counselor Demographics, Anxiety, Compassion Satisfaction, and Burnout"] article 97820502	Journal of Genetic Counseling 2014	reviewed	confirmed caucasian	georgina	2026-05-19 21:47
caucasian	["Reaffirmation of GAK, but not HLA‐DRA, as a Parkinson's disease susceptibility gene in a Taiwanese population"] article 102654974	American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2013	reviewed	confirmed caucasian	georgina	2026-05-19 21:48
caucasian	["A Comparison of <scp>B</scp>ayesian and Frequentist Approaches to Incorporating External Information for the Prediction of Prostate Cancer Risk"] article 110315011	Genetic Epidemiology 2012	reviewed	confirmed caucasian	georgina	2026-05-19 21:49
caucasian	["Association of <i>ANK3</i> with bipolar disorder confirmed in East Asia"] article 121850010	American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2011	reviewed	confirmed caucasian	georgina	2026-05-19 21:49
caucasian	["Pi phenotypes of alpha<sub>1</sub>‐antitrypsin in Southern England: Identification of M subtypes and implications for genetic studies"] article 124861743	Clinical Genetics 1979	reviewed	confirmed caucasian	georgina	2026-05-19 21:49
caucasian	["Batten disease (Spielmeyer‐Sjogren disease) and haptoglobins (HP): indication of linkage and assignment to chr. 16"] article 124891598	Clinical Genetics 1989	reviewed	confirmed caucasian	georgina	2026-05-19 21:49
caucasian	["The angiotensin‐converting enzyme (ACE) genetic polymorphism: its relationship with plasma ACE level and myocardial infarction"] article 124907657	Clinical Genetics 1994	reviewed	confirmed caucasian	georgina	2026-05-19 21:50
caucasian	["The Utility of Genetic Counseling Prior to Offering First Trimester Screening Options"] article 130870140	Journal of Genetic Counseling 2009	reviewed	confirmed caucasian	georgina	2026-05-19 21:50
caucasian	["COMT val158met influence on electroconvulsive therapy response in major depression"] article 131955077	American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2009	reviewed	confirmed caucasian	georgina	2026-05-19 21:50
caucasian	["Haplogroup analysis supports a pathogenic role for the 7510T>C mutation of mitochondrial tRNA<sup>Ser(UCN)</sup> in sensorineural hearing loss"] article 132778489	Clinical Genetics 2007	reviewed	confirmed caucasian	georgina	2026-05-19 21:50
caucasian	["Genome‐widely significant evidence of linkage of schizophrenia to chromosomes 2p24.3 and 6q27 in an SNP‐Based analysis of Korean families"] article 134074995	American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2009	reviewed	confirmed caucasian	georgina	2026-05-19 21:50
caucasian	["Association analysis of dynamin‐binding protein (<i>DNMBP</i>) on chromosome 10q with late onset Alzheimer's disease in a large caucasian UK sample"] article 136339957	American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2008	reviewed	confirmed caucasian	georgina	2026-05-19 21:50
caucasian	["Familial CHARGE syndrome because of <i>CHD7</i> mutation: clinical intra‐ and interfamilial variability"] article 140508992	Clinical Genetics 2007	reviewed	confirmed caucasian	georgina	2026-05-19 21:51
caucasian	["Clinical and genetic analysis of two Tunisian otosclerosis families"] article 141540018	American Journal of Medical Genetics Part A 2007	reviewed	confirmed caucasian	georgina	2026-05-19 21:51
caucasian	["Thromboxane synthase (TBXAS1) polymorphisms in African-American and Caucasian populations: evidence for selective pressure"] article 152400290	Human Mutation 2005	reviewed	confirmed caucasian	georgina	2026-05-19 21:51
caucasian	["Mutation frequencies for glycogen storage disease Ia in the Ashkenazi Jewish population"] article 158799951	American Journal of Medical Genetics Part A 2004	reviewed	confirmed caucasian	georgina	2026-05-19 21:51
caucasian	["A new insight into fragile X syndrome among Basque population"] article 158990096	American Journal of Medical Genetics Part A 2004	reviewed	confirmed caucasian	georgina	2026-05-19 21:51
caucasian	["Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY)"] article 161615354	Human Mutation 2003	reviewed	confirmed caucasian	georgina	2026-05-19 21:51
caucasian	["CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct"] article 172329127	Human Genetics 2023	reviewed	confirmed caucasian	georgina	2026-05-19 21:52

LIG Audit Status

["Identification of 21 novel glucokinase (GCK) mutations in UK and European Caucasians with maturity-onset diabetes of the young (MODY)"]