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Batch audit-20260421-labels-seed42 · created 2026-04-21 07:03 · seed 42
| 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 | ["Trismus‐pseudocamptodactyly syndrome in a Japanese family"] article 124901414 |
Clinical Genetics 1985 |
pending | pending | — | 2026-04-21 07:03 |
| european | ["Influence of apolipoprotein B signal peptide insertion/deletion polymorphism on serum lipids and apolipoproteins in a Chinese population"] article 124901656 |
Clinical Genetics 1992 |
pending | pending | — | 2026-04-21 07:03 |
| 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 |
| european | ["Common variants in the TPH1 and TPH2 regions are not associated with persistent ADHD in a combined sample of 1,636 adult cases and 1,923 controls from four European populations"] article 126914996 |
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2010 |
pending | pending | — | 2026-04-21 07:03 |
| european | ["Comprehensive analysis of tagging sequence variants in <i>DTNBP1</i> shows no association with schizophrenia or with its composite neurocognitive endophenotypes"] article 137329985 |
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2008 |
pending | pending | — | 2026-04-21 07:03 |
| european | ["Failure to replicate effect of kibra on human memory in two large cohorts of European origin"] article 137944993 |
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2008 |
pending | pending | — | 2026-04-21 07:03 |
| european | ["An overload of missense variants in the OTOG gene may drive a higher prevalence of familial Meniere disease in the European population"] article 141880232 |
Human Genetics 2024 |
pending | pending | — | 2026-04-21 07:03 |
| european | ["Mutation screen of the <i>GAD2</i> gene and association study of alcoholism in three populations"] article 146239984 |
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2006 |
pending | pending | — | 2026-04-21 07:03 |
| european | ["Clarification of data reported in “Cleidocranial Dysplasia: Molecular Genetic Analysis and Phenotypic‐Based Description of a Middle European Patient Group” (AJMG 139A:78–85)"] article 150294965 |
American Journal of Medical Genetics Part A 2006 |
pending | pending | — | 2026-04-21 07:03 |
| european | ["<i>HJV</i> gene mutations in European patients with juvenile hemochromatosis"] article 154393805 |
Clinical Genetics 2005 |
pending | pending | — | 2026-04-21 07:03 |
| european | ["Refined genetic mapping of autosomal recessive chronic distal spinal muscular atrophy to chromosome 11q13.3 and evidence of linkage disequilibrium in European families"] article 159887200 |
European Journal of Human Genetics 2004 |
pending | pending | — | 2026-04-21 07:03 |
| european | ["Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia"] article 160240043 |
American Journal of Medical Genetics Part A 2003 |
pending | pending | — | 2026-04-21 07:03 |
| european | ["Linkage at 12q24 with Systemic Lupus Erythematosus (SLE) Is Established and Confirmed in Hispanic and European American Families"] article 160512804 |
The American Journal of Human Genetics 2004 |
pending | pending | — | 2026-04-21 07:03 |
| european | ["Mitochondrial DNA polymorphism in populations of Siberian and European roe deer (Capreolus pygargus and C. capreolus)"] article 167099450 |
Heredity 1998 |
pending | pending | — | 2026-04-21 07:03 |
| european | ["Identification of novel mutations in the PCCB gene in European propionic acidemia patients Communicated by: R.G.H. Cotton Online Citation: Human Mutation, Mutation in Brief #253 (1999) Online http://journals.wiley.com/1059-7794/pdf/mutation/253.pdf"] article 167310103 |
Human Mutation 1999 |
pending | pending | — | 2026-04-21 07:03 |
| european | ["Interaction between genetics and smoking in determining risk of coronary artery diseases"] article 192043729 |
Genetic Epidemiology 2022 |
pending | pending | — | 2026-04-21 07:03 |
| 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 |
| none of these labels | ["Correction: Ethical and public health implications of genetic testing for suicide risk: family and survivor perspectives"] article 38635275 |
Genetics in Medicine 2021 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Issue Information"] article 49975058 |
Journal of Genetic Counseling 2019 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Fetal bowel hyperechogenicity may indicate mild atypical cystic fibrosis: a case associated with a complex CFTR allele"] article 53388855 |
Journal of Medical Genetics 2000 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Pleiotropic Meta-Analysis of Cognition, Education, and Schizophrenia Differentiates Roles of Early Neurodevelopmental and Adult Synaptic Pathways"] article 53595520 |
The American Journal of Human Genetics 2019 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Expanding phenotype with severe midline brain anomalies and missense variant supports a causal role for <i>FOXA2</i> in 20p11.2 deletion syndrome"] article 54149971 |
American Journal of Medical Genetics Part A 2019 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["A local score approach improves GWAS resolution and detects minor QTL: application to Medicago truncatula quantitative disease resistance to multiple Aphanomyces euteiches isolates"] article 55371035 |
Heredity 2019 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["A glycine transporter SLC6A5 frameshift mutation causes startle disease in Spanish greyhounds"] article 57520254 |
Human Genetics 2019 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Correction: Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia"] article 63525563 |
European Journal of Human Genetics 2018 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Estimating Causal Effects on a Disease Progression Trait Using Bivariate Mendelian Randomisation"] article 68050007 |
Genetic Epidemiology 2024 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["The genetic architecture of ecological adaptation: intraspecific variation in host plant use by the lepidopteran crop pest Chloridea virescens"] article 68860950 |
Heredity 2017 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Syndactylies and Polydactylies:\nEmbryological Overview and\nSuggested Classification"] article 70102757 |
European Journal of Human Genetics 1993 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Announcement"] article 70112664 |
European Journal of Human Genetics 1996 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Detection of homozygous deletions in tumor‐suppressor genes ranging from dozen to hundreds nucleotides in cancer models"] article 72005142 |
Human Mutation 2017 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Bullous Lung Disease in Turner Syndrome: An Underrecognized Comorbidity?"] article 72215019 |
American Journal of Medical Genetics Part A 2024 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Automatic recognition of the <scp>XLHED</scp> phenotype from facial images"] article 72589974 |
American Journal of Medical Genetics Part A 2017 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["The Genetic Architecture of Gene Expression in Peripheral Blood"] article 76575307 |
The American Journal of Human Genetics 2017 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Epidemiology of neurofibromatosis type 1 (NF1) in northern Finland"] article 79499278 |
Journal of Medical Genetics 2000 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Novel Clinical Manifestation and Favorable Treatment Outcome of Cochlear Implant in a Chinese Family With Likely Pathogenic Variant of the <scp><i>P2RX2</i></scp> Gene"] article 82329988 |
American Journal of Medical Genetics Part A 2024 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Metatropic dysplasia is associated with increased fracture risk"] article 84944978 |
American Journal of Medical Genetics Part A 2016 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Screening of the BRCA1 gene in Brazilian patients with breast and/or ovarian cancer via high-resolution melting reaction analysis"] article 85895646 |
Familial Cancer 2015 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Mothers’ psychological adaptation to Duchenne/Becker muscular dystrophy"] article 88090577 |
European Journal of Human Genetics 2015 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Acceptability of, and Information Needs Regarding, Next‐Generation Sequencing in People Tested for Hereditary Cancer: A Qualitative Study"] article 88355411 |
Journal of Genetic Counseling 2015 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["RASopathy-Associated<i>CBL</i>Germline Mutations Cause Aberrant Ubiquitylation and Trafficking of EGFR"] article 95375132 |
Human Mutation 2014 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Application of an ordered subset analysis approach to the genetics of alcoholism"] article 100875099 |
Genetic Epidemiology 1999 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Standard enrichment methods for targeted next-generation sequencing in high-repeat genomic regions"] article 101341710 |
Genetics in Medicine 2013 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Extremely reduced dispersal and gene flow in an island bird"] article 102141345 |
Heredity 2013 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Newborn bloodspot screening for Duchenne Muscular Dystrophy: 21 years experience in Wales (UK)"] article 107196477 |
European Journal of Human Genetics 2013 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Length Distributions of Identity by Descent Reveal Fine-Scale Demographic History"] article 108236249 |
The American Journal of Human Genetics 2012 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Recommendations for using standardised phenotypes in genetic association studies"] article 110698605 |
Human Genomics 2009 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Analysis of pharmacogenetic traits in two distinct South African populations"] article 110871826 |
Human Genomics 2011 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Rare<i>TP53</i>genetic variant associated with glioma risk and outcome"] article 111323771 |
Journal of Medical Genetics 2012 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["<i>KRAS</i> gene mutations in Noonan syndrome familial cases cluster in the vicinity of the switch II region of the G‐domain: Report of another family with metopic craniosynostosis"] article 112590088 |
American Journal of Medical Genetics Part A 2012 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Peroxisomal Disorders"] article 115660998 |
Human Genetics 1987 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Skipping along: an exon skipping therapy shows promise for Duchenne muscular dystrophy"] article 118083471 |
Clinical Genetics 2011 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems"] article 124500845 |
The American Journal of Human Genetics 2010 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Catechol‐O‐methyltransferase activity in erythrocytes in Down's syndrome"] article 124860947 |
Clinical Genetics 1973 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Intracellular retention of lysosomal enzymes in cystic fibrosis"] article 124861823 |
Clinical Genetics 1981 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Diagnosis of cystic fibrosis homozygotes and heterozygotes from plasma and fibroblast cultures. A three‐generation family study"] article 124901338 |
Clinical Genetics 1983 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Fitzsimmons syndrome: Spastic paraplegia, brachydactyly and cognitive impairment"] article 129560030 |
American Journal of Medical Genetics Part A 2009 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["The multidimensionality of schizotypy in nonpsychotic relatives of patients with schizophrenia and its applications in ordered subsets linkage analysis of schizophrenia"] article 131605007 |
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2009 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Minute Y chromosome derived marker in a child with gonadoblastoma: cytogenetic and DNA studies."] article 134016697 |
Journal of Medical Genetics 1992 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Cystic fibrosis screening and community genetics."] article 134021707 |
Journal of Medical Genetics 1990 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["DiGeorge syndrome: an historical review of clinical and cytogenetic features."] article 134021826 |
Journal of Medical Genetics 1993 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Dermatoglyphic findings in Poland's syndrome."] article 134031330 |
Journal of Medical Genetics 1980 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Lancelot Hogben Scientific Humanist. An Unauthorised Autobiography"] article 134032117 |
Journal of Medical Genetics 1998 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Genetical components of physiological tremor."] article 134041195 |
Journal of Medical Genetics 1975 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Medical genetics: advances in brief: An activating splice donor mutation in the thrombopoietin gene causes hereditary thrombocythaemia"] article 134041990 |
Journal of Medical Genetics 1998 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Partial 12p deletion: a cause for a mental retardation, multiple congenital abnormality syndrome."] article 134047620 |
Journal of Medical Genetics 1975 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Survivors of neuroblastoma and ganglioneuroma and their families."] article 134047697 |
Journal of Medical Genetics 1982 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Fungal mating-types"] article 136573065 |
Heredity 1967 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["The genetics of the bee-like patterns of Merodon equestris"] article 136573315 |
Heredity 1972 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Failure to transmit mutant plastids in a pelargonium cross"] article 136577838 |
Heredity 1964 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Variability of outcrossing frequency in Senecio vulgaris L."] article 136751673 |
Heredity 1976 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Reviews"] article 136751708 |
Heredity 1977 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["B chromosome selection and fitness in rye"] article 136756852 |
Heredity 1978 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["One- and two-sample tests for single-locus inbreeding coefficients using the bootstrap"] article 137081944 |
Heredity 1995 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II"] article 137550126 |
Human Mutation 2008 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Pituitary hypoplasia and growth hormone deficiency in Coffin‐Siris syndrome"] article 137944981 |
American Journal of Medical Genetics Part A 2008 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["This Month in the Journal"] article 138708120 |
The American Journal of Human Genetics 2007 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease"] article 138825286 |
The American Journal of Human Genetics 2024 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Neuropathy as a presenting feature in fragile X‐associated tremor/ataxia syndrome"] article 140115125 |
American Journal of Medical Genetics Part A 2007 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Clinical features in adults with congenital disorders of glycosylation type Ia (CDG‐Ia)"] article 140554952 |
American Journal of Medical Genetics Part C: Seminars in Medical Genetics 2007 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Ambulatory electrocardiogram analysis in infants treated with recombinant human acid α-glucosidase enzyme replacement therapy for Pompe disease"] article 148730511 |
Genetics in Medicine 2006 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Perceptions and Attitudes about <i>HFE</i> Genotyping Among College‐Age Adults"] article 151061825 |
Journal of Genetic Counseling 2005 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Cardiovascular malformations in Fryns syndrome: Is there a pathogenic role for neural crest cells?"] article 151579983 |
American Journal of Medical Genetics Part A 2005 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Novel frameshift mutation in exon 4 of CFTR gene"] article 153591575 |
Human Mutation 1995 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Masthead"] article 153596292 |
Genetic Epidemiology 1992 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Announcements"] article 154373265 |
Journal of Genetic Counseling 1994 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutation"] article 155883917 |
European Journal of Human Genetics 2004 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Congenital hyperinsulinism: Molecular basis of a heterogeneous disease"] article 157296455 |
Human Mutation 1999 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Familial benign hypercalcaemia (FBH; McK. No. 14598, 1983): Linkage studies in a large Dutch family"] article 157866536 |
Human Genetics 1984 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Syndrome of lymphoedema and distichiasis"] article 157986141 |
Human Genetics 1980 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Zur Problematik des Polymorphismus des Bitterschmeckens: Vergleichende Untersuchungen an Thioharnstoffderivaten und Anetholtrithion"] article 157992480 |
Human Genetics 1965 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["CG dinucleotide transitions in the factor IX gene account for about half of the point mutations in hemophilia B patients: a Seattle series"] article 158115024 |
Human Genetics 1991 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["A minority of 46,XX true hermaphrodites are positive for the Y-DNA sequence including SRY"] article 158120864 |
Human Genetics 1992 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Altered gating properties of functional Cx26 mutants associated with recessive non-syndromic hearing loss"] article 158560591 |
Human Genetics 2004 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Mitochondrial DNA polymorphisms as risk factors for Parkinson?s disease and Parkinson?s disease dementia"] article 159390102 |
Human Genetics 2004 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Decreased guanine nucleotide exchange factor activity in eIF2B-mutated patients"] article 159887206 |
European Journal of Human Genetics 2004 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Genomewide Linkage Analysis for Internal Carotid Artery Intimal Medial Thickness: Evidence for Linkage to Chromosome 12"] article 160383742 |
The American Journal of Human Genetics 2004 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Congenital deficiency of alpha‐fetoprotein and associated chromosomal abnormality in the placenta"] article 162080042 |
American Journal of Medical Genetics Part A 2003 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Editorial Notes"] article 163667182 |
Journal of Genetic Counseling 2003 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Kyphomelic dysplasia: a rare form of semilethal skeletal dysplasia"] article 164025030 |
Clinical Genetics 2000 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["The Biochemistry of Cell Signalling"] article 164062585 |
Heredity 2001 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Closing Thoughts on Supervision"] article 165148943 |
Journal of Genetic Counseling 2000 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Keyword Index, Volume 89"] article 165353251 |
Heredity 2002 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous ?-subunit mutations"] article 165475070 |
Human Mutation 2002 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["A PEX6-Defective Peroxisomal Biogenesis Disorder with Severe Phenotype in an Infant, versus Mild Phenotype Resembling Usher Syndrome in the Affected Parents"] article 166847665 |
The American Journal of Human Genetics 2002 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Mutations in a Novel Gene, TMIE, Are Associated with Hearing Loss Linked to the DFNB6 Locus"] article 166984727 |
The American Journal of Human Genetics 2002 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["The effect of reproductive compensation on recessive disorders within consanguineous human populations"] article 167166854 |
Heredity 2002 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Removal of repetitive sequences from FISH probes using PCR-assisted affinity chromatography"] article 167642881 |
Human Genetics 1997 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["24 bp deletion and Ala1278 to val mutation of the ATP7B gene in a Sardinian family with Wilson disease"] article 167670576 |
Human Mutation 1997 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Dual blastomere analysis improves reliability of preimplantation trembler mouse diagnosis"] article 167842271 |
Human Genetics 1997 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["DNA Pooling in Mutation Detection with Reference to Sequence Analysis"] article 178617711 |
The American Journal of Human Genetics 2000 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Clinical characteristics and genotypes of 201 patients with mucopolysaccharidosis type <scp>II</scp> in China: A retrospective, observational study"] article 179660410 |
Clinical Genetics 2023 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Mutations in FOXC2 (MFH-1), a Forkhead Family Transcription Factor, Are Responsible for the Hereditary Lymphedema-Distichiasis Syndrome"] article 180837876 |
The American Journal of Human Genetics 2000 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Phenotypes of Patients with “Simple” Mendelian Disorders Are Complex Traits: Thresholds, Modifiers, and Systems Dynamics"] article 185118234 |
The American Journal of Human Genetics 2000 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Further phenotypic delineation of Alazami syndrome"] article 189303717 |
American Journal of Medical Genetics Part A 2022 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Expression of esterase D and other gene markers in trisomy 13"] article 189509104 |
Human Genetics 1979 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["A Locus for Autosomal Dominant Colobomatous Microphthalmia Maps to Chromosome 15q12-q15"] article 191948050 |
The American Journal of Human Genetics 2000 |
pending | pending | — | 2026-04-21 07:03 |
| none of these labels | ["Prenatal detection of cystic fibrosis by ultrasonography: a retrospective study of more than 346 000 pregnancies"] article 193733087 |
Journal of Medical Genetics 2002 |
pending | pending | — | 2026-04-21 07:03 |