LIG Audit Status

Target	Article	Journal	Status	Outcome	Reviewer	Updated
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

LIG Audit Status

["A glycine transporter SLC6A5 frameshift mutation causes startle disease in Spanish greyhounds"]