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
white	["Ethnic disparities in the frequency of cancer reported in family histories"] article 46785033	Journal of Genetic Counseling 2020	reviewed	confirmed white	georgina	2026-05-19 22:04
white	["The big reveal: Family disclosure patterns of <i>BRCA</i> genetic test results among young Black women with invasive breast cancer"] article 49135014	Journal of Genetic Counseling 2020	reviewed	confirmed white	georgina	2026-05-19 21:53
white	["Heritability analysis of nontraditional glycemic biomarkers in the Atherosclerosis Risk in Communities Study"] article 54694992	Genetic Epidemiology 2019	reviewed	confirmed white	georgina	2026-05-19 21:54
white	["A cross‐sectional survey‐based exploration of diversity in the admissions committees and student cohorts of genetic counseling programs over time"] article 81044987	Journal of Genetic Counseling 2024	reviewed	confirmed white	georgina	2026-05-19 21:54
white	["Autosomal recessive <i>MFN2</i>‐related Charcot‐Marie‐Tooth disease with diaphragmatic weakness: Case report and literature review"] article 84004973	American Journal of Medical Genetics Part A 2016	reviewed	confirmed white	georgina	2026-05-19 21:54
white	["Craniosynostosis and risk factors related to thyroid dysfunction"] article 92135052	American Journal of Medical Genetics Part A 2015	reviewed	confirmed white	georgina	2026-05-19 21:55
white	["Trigeminal nerve agenesis with absence of foramina rotunda in Gómez–López–Hernández syndrome"] article 94404955	American Journal of Medical Genetics Part A 2014	reviewed	confirmed white	georgina	2026-05-19 21:56
white	["Implementing family health history risk stratification in primary care: Impact of guideline criteria on populations and resource demand"] article 98789988	American Journal of Medical Genetics Part C: Seminars in Medical Genetics 2014	reviewed	confirmed white	georgina	2026-05-19 21:56
white	["African American Women's Limited Knowledge and Experiences with Genetic Counseling for Hereditary Breast Cancer"] article 101390829	Journal of Genetic Counseling 2013	reviewed	confirmed white	georgina	2026-05-19 21:57
white	["Access to clinical genetic services: An evaluation of patient referral characteristics and identifying barriers in Michigan"] article 105219962	Journal of Genetic Counseling 2024	reviewed	confirmed white	georgina	2026-05-19 21:57
white	["Dyschromatosis symmetrica hereditaria with long hair on the forearms, hypo/hyperpigmented hair, and dental anomalies: Report of a novel <i>ADAR1</i> mutation"] article 110644978	American Journal of Medical Genetics Part A 2012	reviewed	not white on review	georgina	2026-05-19 21:58
white	["“What is this Genetics, Anyway?” Understandings of Genetics, Illness Causality and Inheritance Among British Pakistani Users of Genetic Services"] article 135550986	Journal of Genetic Counseling 2008	reviewed	confirmed white	georgina	2026-05-19 21:58
white	["Prevalence of nonsyndromic oral clefts in Texas: 1995–1999"] article 154714951	American Journal of Medical Genetics Part A 2005	reviewed	confirmed white	georgina	2026-05-19 21:59
white	["Mitochondrial genetic variation and risk of chronic kidney disease and acute kidney injury in UK Biobank participants"] article 155165148	Human Genetics 2024	reviewed	confirmed white	georgina	2026-05-19 21:59
white	["FMR1 alleles in Tasmania: a screening study of the special educational needs population"] article 156409279	Clinical Genetics 2004	reviewed	confirmed white	georgina	2026-05-19 22:01
white	["Association of a STAT 6 haplotype with elevated serum IgE levels in a population based cohort of white adults"] article 158139190	Journal of Medical Genetics 2004	reviewed	confirmed white	georgina	2026-05-19 22:01
white	["Exploring the occurrence of microaggressions in the genetic counseling student–supervisor relationship: A mixed‐methods study"] article 164990047	Journal of Genetic Counseling 2024	reviewed	confirmed white	georgina	2026-05-19 22:01
white	["SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family"] article 165349196	Journal of Medical Genetics 2002	reviewed	confirmed white	georgina	2026-05-19 22:02
white	["Patient decisions regarding cancer gene panel testing: An exploratory study"] article 169773775	Journal of Genetic Counseling 2023	reviewed	confirmed white	georgina	2026-05-19 22:02
white	["Breast cancer polygenic risk scores derived in White European populations are not calibrated for women of Ashkenazi Jewish descent"] article 172519562	Genetics in Medicine 2023	reviewed	confirmed white	georgina	2026-05-19 22:02
white	["Endocrine and behavioural features of Lowe syndrome and their potential molecular mechanisms"] article 187705243	Journal of Medical Genetics 2022	reviewed	confirmed white	georgina	2026-05-19 22:02
white	["Cross‐sectional clinical cancer genomics community of practice survey analysis of provider attitudes and beliefs regarding the use of deceased family member tissue to guide living family member genetic cancer risk assessment"] article 188998766	Journal of Genetic Counseling 2022	reviewed	confirmed white	georgina	2026-05-19 22:03
white	["Factors influencing genetic counseling and testing for hereditary breast and ovarian cancer syndrome in a large <scp>US</scp> health care system"] article 193825403	Clinical Genetics 2021	reviewed	confirmed white	georgina	2026-05-19 22:03
white	["Genome-wide analysis of mitochondrial DNA copy number reveals loci implicated in nucleotide metabolism, platelet activation, and megakaryocyte proliferation"] article 194365288	Human Genetics 2021	reviewed	confirmed white	georgina	2026-05-19 22:03
white	["Supporting a sense of inclusion and belonging for genetic counseling students who identify as racial or ethnic minorities"] article 203913850	Journal of Genetic Counseling 2021	reviewed	confirmed white	georgina	2026-05-19 22:04
european	["A comprehensive genetic and epidemiological association analysis of vitamin D with common diseases/traits in the UK Biobank"] article 41690021	Genetic Epidemiology 2020	reviewed	confirmed european	georgina	2026-05-26 21:36
european	["Decoding a highly mixed Kazakh genome"] article 48040179	Human Genetics 2020	reviewed	confirmed european	georgina	2026-05-26 21:36
european	["Adducted thumb-club foot syndrome in sibs of a consanguineous Austrian family"] article 66724027	Journal of Medical Genetics 2001	reviewed	confirmed european	georgina	2026-05-26 21:39
european	["A Quality Control Study of CFTR\nMutation Screening in 40\nDifferent European Laboratories"] article 70127577	European Journal of Human Genetics 1995	reviewed	confirmed european	georgina	2026-05-26 21:39
european	["Facial malformation atlas aims to aid diagnosis of genetic disorders in patients of non‐European descent"] article 80864978	American Journal of Medical Genetics Part A 2016	reviewed	confirmed european	georgina	2026-05-26 21:39
european	["Rare Variants in<i>PLD3</i>Do Not Affect Risk for Early-Onset Alzheimer Disease in a European Consortium Cohort"] article 87405930	Human Mutation 2015	reviewed	confirmed european	georgina	2026-05-26 21:39
european	["Evaluation of European coeliac disease risk variants in a north Indian population"] article 96211237	European Journal of Human Genetics 2014	reviewed	confirmed european	georgina	2026-05-26 21:39
european	["Limitations in next-generation sequencing-based genotyping of breast cancer polygenic risk score loci"] article 111440960	European Journal of Human Genetics 2024	reviewed	confirmed european	georgina	2026-05-26 21:39
european	["No evidence that major mtDNA European haplogroups confer risk to schizophrenia"] article 112764959	American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2012	reviewed	confirmed european	georgina	2026-05-26 21:39
european	["Association between CYP2C19 polymorphism and depressive symptoms"] article 126584983	American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2010	reviewed	confirmed european	georgina	2026-05-26 21:40
other	["<scp>RP2</scp>‐associated retinal disorder in a Japanese cohort: Report of novel variants and a literature review, identifying a genotype–phenotype association"] article 42054996	American Journal of Medical Genetics Part C: Seminars in Medical Genetics 2020	reviewed	confirmed other	georgina	2026-05-26 21:42
other	["Homozygous hypomorphic<i>BRCA2</i>variant in primary ovarian insufficiency without cancer or Fanconi anaemia trait"] article 44822308	Journal of Medical Genetics 2020	reviewed	confirmed other	georgina	2026-05-26 21:42
other	["Next‐generation sequencing through multi‐gene panel testing for diagnosis of hereditary ichthyosis in Chinese"] article 48816578	Clinical Genetics 2020	reviewed	confirmed other	georgina	2026-05-26 21:42
other	["Schuurs‐Hoeijmakers syndrome in two patients from Japan"] article 59189996	American Journal of Medical Genetics Part A 2018	reviewed	confirmed other	georgina	2026-05-26 21:42
other	["Ethnic variation of <i>IL‐4</i> intron 3 VNTR gene polymorphism; its association with type 2 diabetes mellitus and its complication (neuropathy) in Egyptian subjects"] article 60989976	American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2018	reviewed	confirmed other	georgina	2026-05-26 21:42
other	["Association between glutathione S‐transferase gene M1 and T1 polymorphisms and chronic obstructive pulmonary disease risk: A meta‐analysis"] article 65220834	Clinical Genetics 2018	reviewed	confirmed other	georgina	2026-05-26 21:43
other	["Genetic characterization of <scp>GSD</scp> I in Serbian population revealed unexpectedly high incidence of <scp>GSD</scp> Ib and 3 novel <i><scp>SLC37A4</scp></i> variants"] article 72601531	Clinical Genetics 2017	reviewed	confirmed other	georgina	2026-05-26 21:44
other	["Revisiting the prevalence of nonclassic congenital adrenal hyperplasia in US Ashkenazi Jews and Caucasians"] article 73805871	Genetics in Medicine 2017	reviewed	confirmed other	georgina	2026-05-26 21:44
other	["An homozygous mutation in <i>KCNK3</i> is associated with an aggressive form of hereditary pulmonary arterial hypertension"] article 79417703	Clinical Genetics 2016	reviewed	confirmed other	georgina	2026-05-26 21:44
other	["Identification of IRF8, TMEM39A, and IKZF3-ZPBP2 as Susceptibility Loci for Systemic Lupus Erythematosus in a Large-Scale Multiracial Replication Study"] article 112866163	The American Journal of Human Genetics 2012	reviewed	confirmed other	georgina	2026-05-26 21:44
other	["Setleis syndrome in Mexican-Nahua sibs due to a homozygous TWIST2 frameshift mutation and partial expression in heterozygotes: review of the focal facial dermal dysplasias and subtype reclassification"] article 117588340	Journal of Medical Genetics 2011	reviewed	confirmed other	georgina	2026-05-26 21:44
other	["A follow‐up case–control association study of tractable (druggable) genes in recurrent major depression"] article 119739981	American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2011	reviewed	confirmed other	georgina	2026-05-26 21:44
other	["Mapping for dyslexia and related cognitive trait loci provides strong evidence for further risk genes on chromosome 6p21"] article 123204951	American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2010	reviewed	confirmed other	georgina	2026-05-26 21:45
other	["Dermatoglyphics in Down's syndrome. III"] article 124860953	Clinical Genetics 1973	reviewed	confirmed other	georgina	2026-05-26 21:45
other	["Skin mastocytosis with short stature, conductive hearing loss and microtia: a new syndrome"] article 124891610	Clinical Genetics 1990	reviewed	confirmed other	georgina	2026-05-26 21:45
other	["The association of the MYH9 gene and kidney outcomes in American Indians: the Strong Heart Family Study"] article 128490716	Human Genetics 2009	reviewed	confirmed other	georgina	2026-05-26 21:45
other	["Quantitative Southern blot analysis in the dystrophin gene of Japanese patients with Duchenne or Becker muscular dystrophy: a high frequency of duplications."] article 134047871	Journal of Medical Genetics 1992	reviewed	confirmed other	georgina	2026-05-26 21:45
other	["Prevalence of hereditary prosopagnosia (HPA) in Hong Kong Chinese population"] article 134424999	American Journal of Medical Genetics Part A 2008	reviewed	confirmed other	georgina	2026-05-26 21:45
other	["Evidence for linkage between Wilson disease and esterase D in three kindreds: Detection of linkage for an autosomal recessive disorder by the family study method"] article 153581167	Genetic Epidemiology 1986	reviewed	confirmed other	georgina	2026-05-26 21:45
other	["Candidate gene analysis in human neural tube defects"] article 154355026	American Journal of Medical Genetics Part C: Seminars in Medical Genetics 2005	reviewed	confirmed other	georgina	2026-05-26 21:46
other	["Putative common origin of two <i>MLH1</i> mutations in Italian‐Quebec hereditary non‐polyposis colorectal cancer families"] article 158518734	Clinical Genetics 2004	reviewed	confirmed other	georgina	2026-05-26 21:46
other	["Mexican geneticists’ views of ethical issues in genetics testing and screening. Are eugenic principles involved?"] article 164035051	Clinical Genetics 1999	reviewed	confirmed other	georgina	2026-05-26 21:46
other	["Prevalence of germline mutations of h MLH1 , h MSH2 , h PMS1 , h PMS2 , and h MSH6 genes in 75 French kindreds with nonpolyposis colorectal cancer"] article 167563203	Human Genetics 1999	reviewed	confirmed other	georgina	2026-05-26 21:46
other	["Genetic diversity and signatures of selection in four indigenous horse breeds of Iran"] article 176990118	Heredity 2023	reviewed	confirmed other	georgina	2026-05-26 21:46
other	["Peripheral health workers’ knowledge and experience related to sickle cell disease: an in-depth interview study in six tribal-dominated districts of India"] article 192514179	Journal of Community Genetics 2022	reviewed	confirmed other	georgina	2026-05-26 21:46