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Article	Journal	Full text	AI	Updated
["Investigating genetic correlation and causality between nicotine dependence and <scp>ADHD</scp> in a broader psychiatric context"] article 41689971	American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2020	available manual_upload	processed european, other	2026-05-12 06:48
["Homozygous <scp>ASTN1</scp> Nonsense Variant Linked to Epileptic Encephalopathy: A Detailed Report With Unique Clinical Presentation"] article 50051494	Clinical Genetics 2024	available manual_upload	processed none flagged	2026-05-21 17:02
["TRIDENT-2: National Implementation of Genome-wide Non-invasive Prenatal Testing as a First-Tier Screening Test in the Netherlands"] article 50810496	The American Journal of Human Genetics 2019	available manual_upload	processed european	2026-05-21 17:02
["Issue Information"] article 52014973	Genetic Epidemiology 2019	available manual_upload	processed none flagged	2026-05-30 17:03
["From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with <i>PNKP</i> gene mutations"] article 53069958	American Journal of Medical Genetics Part A 2019	available manual_upload	processed none flagged	2026-05-24 17:02
["Prevalence of HLA-B*58:01 allele among Malay, Chinese and Indian ethnic patients with gout attending primary care clinics in Malaysia"] article 57825403	Journal of Community Genetics 2024	available manual_upload	processed caucasian, european, other	2026-05-21 17:02
["Homozygous/compound heterozygote <i>RYR1</i> gene variants: Expanding the clinical spectrum"] article 58669961	American Journal of Medical Genetics Part A 2019	available manual_upload	processed caucasian, european, other	2026-05-24 17:02
["Phenotype expansion and development in Kosaki overgrowth syndrome"] article 68822451	Clinical Genetics 2018	available manual_upload	processed caucasian, other	2026-05-24 17:02
["A dystroglycan mutation (p.Cys667Phe) associated to muscle-eye-brain disease with multicystic leucodystrophy results in ER-retention of the mutant protein"] article 69575021	Human Mutation 2017	available manual_upload	processed none flagged	2026-05-24 17:02
["A germline deletion of 9p21.3 presenting as familial melanoma, astrocytoma and breast cancer: clinical and genetic counselling challenges"] article 71982932	Journal of Medical Genetics 2017	available manual_upload	processed none flagged	2026-05-21 17:02
["Pedigree Selection and Tests of Linkage in a Hutterite Asthma Pedigree"] article 72064990	Genetic Epidemiology 2001	available manual_upload	processed other	2026-05-21 17:03
["Engaging a state: Facebook comments on a large population biobank"] article 74995806	Journal of Community Genetics 2017	available manual_upload	processed other	2026-05-24 17:02
["Genetic profiling of children with advanced cholestatic liver disease"] article 77371262	Clinical Genetics 2017	available manual_upload	processed none flagged	2026-05-21 17:03
["How to communicate and what to disclose to participants in a recall-by-genotype research approach: a multistep empirical study"] article 77825161	Journal of Community Genetics 2024	available manual_upload	processed none flagged	2026-05-24 17:01
["Disclosing Huntington's Genetic Testing Results in the Context of Intellectual Disability and Guardianship: Using the Family Illness Narrative to Guide the Flow of Information"] article 78810379	Journal of Genetic Counseling 2016	available manual_upload	processed none flagged	2026-05-21 17:03
["Phenotypic spectrum of<i>POLR3B</i>mutations: isolated hypogonadotropic hypogonadism without neurological or dental anomalies"] article 80157319	Journal of Medical Genetics 2016	available manual_upload	processed caucasian, european	2026-05-21 17:03
["The present and future of genome editing in cancer research"] article 80815174	Human Genetics 2016	available manual_upload	processed none flagged	2026-05-21 17:03
["Erratum to: Epigenetic and genetic variation in GATA5 is associated with gastric disease risk"] article 80930245	Human Genetics 2016	available manual_upload	processed none flagged	2026-05-21 17:03
["Put Yourself at the Helm: Charting New Territory, Correcting Course, and Weathering the Storm of Career Trajectories"] article 84346901	Journal of Genetic Counseling 2016	available manual_upload	processed none flagged	2026-05-22 17:02
["Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes"] article 89315642	The American Journal of Human Genetics 2015	available manual_upload	processed none flagged	2026-05-23 17:03
["Informed consent and ethical re-use of African genomic data"] article 94398170	Human Genomics 2014	available manual_upload	processed none flagged	2026-05-22 17:02
["Pneumothorax from subpleural blebs—A new association of sotos syndrome?"] article 99619978	American Journal of Medical Genetics Part A 2014	available manual_upload	processed caucasian	2026-05-22 17:02
["A bayesian markov chain monte carlo approach to map disease genes in simulated GAW11 data"] article 100870070	Genetic Epidemiology 1999	available manual_upload	processed none flagged	2026-05-22 17:03
["Sex‐specific association of a common variant of the XG gene with autism spectrum disorders"] article 101795156	American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2013	available manual_upload	processed caucasian, white, european	2026-05-22 17:03
["Editor's forward to special articles: Elements of morphology"] article 101890037	American Journal of Medical Genetics Part A 2013	available manual_upload	processed none flagged	2026-05-22 17:03
["Haplotype Kernel Association Test as a Powerful Method to Identify Chromosomal Regions Harboring Uncommon Causal Variants"] article 104300009	Genetic Epidemiology 2013	available manual_upload	processed white, european	2026-05-22 17:03
["Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations"] article 110649983	American Journal of Medical Genetics Part A 2012	available manual_upload	processed none flagged	2026-05-22 17:03
["Spending on genetic tests grows"] article 112499994	American Journal of Medical Genetics Part A 2012	available manual_upload	processed none flagged	2026-05-22 17:03
["Short stature due to 15q26 microdeletion involving <i>IGF1R</i>: Report of an additional case and review of the literature"] article 116375059	American Journal of Medical Genetics Part A 2011	available manual_upload	processed caucasian, other	2026-05-22 17:03
["Response to Kouwenberg et al. “Recognizable Phenotype With Common Occurrence of Microcephaly, Psychomotor Retardation, But No Spontaneous Bone Fractures in ARCL2B Due to <i>PYCR1</i> Mutations”"] article 118319954	American Journal of Medical Genetics Part A 2011	available manual_upload	processed none flagged	2026-05-23 17:02
["Emergency preparedness for genetics centers, laboratories, and patients: The Southeast Region Genetics Collaborative strategic plan"] article 119566855	Genetics in Medicine 2011	available manual_upload	processed none flagged	2026-05-23 17:02
["<i>LPAR1</i>and<i>ITGA4</i>regulate peripheral blood monocyte counts"] article 120000177	Human Mutation 2011	available manual_upload	processed european	2026-05-23 17:02
["Parents’ Communication with Siblings of Children Affected by an Inherited Genetic Condition"] article 120465550	Journal of Genetic Counseling 2011	available manual_upload	processed white	2026-05-23 17:02
["A molecular analysis of individuals with neurofibromatosis type 1 (NF1) and optic pathway gliomas (OPGs), and an assessment of genotype-phenotype correlations"] article 121557756	Journal of Medical Genetics 2011	available manual_upload	processed none flagged	2026-05-23 17:02
["Extending the reach of public health genomics: What should be the agenda for public health in an era of genome-based and “personalized” medicine?"] article 122572650	Genetics in Medicine 2010	available manual_upload	processed european, other	2026-05-23 17:02
["LTBP2 and CYP1B1 mutations and associated ocular phenotypes in the Roma/Gypsy founder population"] article 122617349	European Journal of Human Genetics 2010	available manual_upload	processed european, other	2026-05-23 17:02
["Phenotypic and genetic analysis of the Silver‐Russell syndrome"] article 124861472	Clinical Genetics 1978	available manual_upload	processed caucasian, white, other	2026-05-23 17:03
["Sialidase (α‐N‐acetyl neuraminidase) deficiency: the enzyme defect in an adult with macular cherry‐red spots and myoclonus without dementia"] article 124861483	Clinical Genetics 1978	available manual_upload	processed white, other	2026-05-23 17:03
["Attitudes of parents of cystic fibrosis children towards neonatal screening and antenatal diagnosis"] article 124901588	Clinical Genetics 1990	available manual_upload	processed caucasian, european	2026-05-24 17:02
["Complete identification of cystic fibrosis transmembrane conductance regulator mutations in the CF population of Saguenay Lac‐Saint‐Jean (Quebec, Canada)"] article 124901910	Clinical Genetics 1998	available manual_upload	processed caucasian, white, other	2026-05-24 17:03
["Gene for incontinentia pigmenti maps to band Xp11 with an (X;10) (p11;q22) translocation"] article 124907385	Clinical Genetics 1987	available manual_upload	processed other	2026-05-24 17:03
["Identification of clinically significant, submicroscopic chromosome alterations and UPD in fetuses with ultrasound anomalies using genome-wide 250k SNP array analysis"] article 125394052	Journal of Medical Genetics 2010	available manual_upload	processed none flagged	2026-05-24 17:03
["Evidence for both copy number and allelic (NA1/NA2) risk at the FCGR3B locus in systemic lupus erythematosus"] article 126127314	European Journal of Human Genetics 2010	available manual_upload	processed caucasian, european, other	2026-05-25 17:01
["Follow-up of potential novel Graves' disease susceptibility loci, identified in the UK WTCCC genome-wide nonsynonymous SNP study"] article 126137327	European Journal of Human Genetics 2010	available manual_upload	processed caucasian, european, other	2026-05-25 17:01
["Toward a cellular model of microvillus inclusion disease"] article 126275038	Human Mutation 2010	available manual_upload	processed other	2026-05-25 17:01
["<i>ADAMTS13</i>mutations and polymorphisms in congenital thrombotic thrombocytopenic purpura"] article 129040117	Human Mutation 2010	available manual_upload	processed other	2026-05-25 17:02
["Classifying ectodermal dysplasias: Incorporating the molecular basis and pathways (Workshop II)"] article 129854962	American Journal of Medical Genetics Part A 2009	available manual_upload	processed none flagged	2026-05-25 17:02
["Possible role of imprinting in the Turner phenotype."] article 134031862	Journal of Medical Genetics 1994	available manual_upload	processed none flagged	2026-05-25 17:02
["A 48,XXXX female"] article 134036285	Journal of Medical Genetics 1974	available manual_upload	processed caucasian	2026-05-25 17:02
["Medical genetics in Romania."] article 134036770	Journal of Medical Genetics 1990	available manual_upload	processed none flagged	2026-05-25 17:02
["Cytoenzymology and Isozymes of Cultured Cells"] article 134042107	Journal of Medical Genetics 1972	available manual_upload	processed none flagged	2026-05-30 17:03
["Chromosome Studies on Adults"] article 134048083	Journal of Medical Genetics 1967	available manual_upload	processed none flagged	2026-05-30 17:03
["Fundamentals of Molecular Evolution (2nd edn)"] article 134702105	Heredity 2000	available manual_upload	processed none flagged	2026-05-30 17:03
["Schilbach–Rott/blepharofacioskeletal syndrome in a Brazilian patient"] article 135415011	American Journal of Medical Genetics Part A 2008	available manual_upload	processed none flagged	2026-05-25 17:02
["Species crosses in Antirrhinum"] article 136572523	Heredity 1951	available manual_upload	processed none flagged	2026-05-25 17:02
["Reviews"] article 136577650	Heredity 1959	available manual_upload	processed none flagged	2026-05-26 17:01
["Reviews"] article 136577770	Heredity 1962	available manual_upload	processed none flagged	2026-05-26 17:01
["Evolutionary studies on Maniola jurtina: the Isles of Scilly, 1958–59"] article 136577832	Heredity 1964	available manual_upload	processed none flagged	2026-05-26 17:02
["The detection and estimation of heritable differences in behaviour among individuals"] article 136577858	Heredity 1965	available manual_upload	processed none flagged	2026-05-26 17:02
["The Finland–United States Investigation of Non–Insulin‐Dependent Diabetes Mellitus Genetics (FUSION) Study. II. An Autosomal Genome Scan for Diabetes‐Related Quantitative‐Trait Loci"] article 138723016	The American Journal of Human Genetics 2000	available manual_upload	processed european	2026-05-26 17:02
["Expanding the phenotype of oculoectodermal syndrome: Possible relationship to encephalocraniocutaneous lipomatosis"] article 139415207	American Journal of Medical Genetics Part A 2007	available manual_upload	processed white, other	2026-05-26 17:02
["<i>EFHC2</i> SNP rs7055196 is not associated with fear recognition in 45,X Turner syndrome"] article 139520388	American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2008	available manual_upload	processed caucasian	2026-05-26 17:02
["Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation"] article 147014971	American Journal of Medical Genetics Part A 2006	available manual_upload	processed none flagged	2026-05-26 17:02
["Is Self‐Disclosure Part of the Genetic Counselor's Clinical Role?"] article 148175232	Journal of Genetic Counseling 2006	available manual_upload	processed caucasian	2026-05-26 17:02
["Glutamate AMPA receptor subunit 1 gene (<i>GRIA1</i>) and DSM‐IV‐TR schizophrenia: A pilot case‐control association study in an Italian sample"] article 150460033	American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 2006	available manual_upload	processed caucasian, european, other	2026-05-26 17:02
["NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: A HuGE review"] article 150688716	Genetics in Medicine 2006	available manual_upload	processed caucasian, white, european, other	2026-05-27 17:02
["WRN mutations in Werner syndrome"] article 157296453	Human Mutation 1999	available manual_upload	processed caucasian, other	2026-05-27 17:02
["Terminal deletion of the long arm of chromosome 1 in a malformed newborn"] article 157866499	Human Genetics 1978	available manual_upload	processed none flagged	2026-05-27 17:02
["Regional chromosomal assignment of the human glucocorticoid receptor gene to 5q31"] article 157870484	Human Genetics 1989	available manual_upload	processed none flagged	2026-05-27 17:02
["Analysis of linkage relationships between genetic markers around the fragile X locus with special reference to the daughters of normal transmitting males"] article 157992433	Human Genetics 1986	available manual_upload	processed none flagged	2026-05-27 17:02
["Zur Frage der Verteilung der ABO-Blutgruppen bei an Scharlach erkrankten Kindern"] article 157992501	Human Genetics 1969	available manual_upload	processed none flagged	2026-05-27 17:03
["TLR4/Asp299Gly, CD14/C-260T, plasma levels of the soluble receptor CD14 and the risk of coronary heart disease: The PRIME Study"] article 158013462	European Journal of Human Genetics 2004	available manual_upload	processed european	2026-05-27 17:03
["The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme"] article 158115557	Human Genetics 1995	available manual_upload	processed other	2026-05-27 17:03
["BRAF screening as a low-cost effective strategy for simplifying HNPCC genetic testing"] article 158139191	Journal of Medical Genetics 2004	available manual_upload	processed other	2026-05-27 17:03
["Human Male Recombination Maps for Individual Chromosomes"] article 160171144	The American Journal of Human Genetics 2004	available manual_upload	processed none flagged	2026-05-27 17:03
["<i>Book Review</i><b>Structural Fetal Abnormalities: The Total Picture.</b> Edited by Roger C. Sanders. Mosby‐Year Book, St. Louis, Missouri, 1996, 284 pp., $59.00 paperback"] article 161909848	Journal of Genetic Counseling 1997	available manual_upload	processed none flagged	2026-05-28 17:02
["SPINK1 mutations predispose to chronic pancreatitis"] article 161994508	Journal of Medical Genetics 2003	available manual_upload	processed none flagged	2026-05-30 17:03
["Transcription factors in dysmorphology"] article 164005009	Clinical Genetics 1999	available manual_upload	processed none flagged	2026-05-28 17:02
["Evidence for locus heterogeneity in the Camurati–Engelmann (DPD1) Syndrome"] article 164025036	Clinical Genetics 2001	available manual_upload	processed none flagged	2026-05-28 17:02
["Evaluation of the fragile X (FRAXA) syndrome with methylation-sensitive PCR"] article 164336141	Human Genetics 2001	available manual_upload	processed none flagged	2026-05-28 17:02
["Clinical and biochemical characteristics and genotype–phenotype correlation in Finnishvariegate porphyria patients"] article 166610778	European Journal of Human Genetics 2002	available manual_upload	processed other	2026-05-28 17:02
["Protein Evolution"] article 167166948	Heredity 1999	available manual_upload	processed none flagged	2026-05-28 17:02
["Genetic studies of the leptin receptor gene in morbidly obese French Caucasian families"] article 167508104	Human Genetics 1997	available manual_upload	processed caucasian	2026-05-28 17:02
["CDKN2A (p16INK4A) somatic and germline mutations"] article 167520262	Human Mutation 1996	available manual_upload	processed none flagged	2026-05-30 17:03
["Mutation analysis of the FAH gene in Israeli patients with tyrosinemia type I"] article 167576610	Human Mutation 2001	available manual_upload	processed european, other	2026-05-28 17:02
["Optimal allele‐sharing statistics for genetic mapping using affected relatives"] article 167590965	Genetic Epidemiology 1999	available manual_upload	processed none flagged	2026-05-28 17:02
["Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene"] article 167728045	Human Genetics 1998	available manual_upload	processed none flagged	2026-05-28 17:03
["SEL1L , the human homolog of C. elegans sel-1 : refined physical mapping, gene structure and identification of polymorphic markers"] article 167763326	Human Genetics 2000	available manual_upload	processed none flagged	2026-05-30 17:03
["Exome and genome sequencing for rare genetic disease diagnosis: A scoping review and critical appraisal of clinical guidance documents produced by genetics professional organizations"] article 173214479	Genetics in Medicine 2023	available manual_upload	processed none flagged	2026-05-29 17:02
["Reply to Kosaki et al."] article 179617799	The American Journal of Human Genetics 2001	available manual_upload	processed none flagged	2026-05-29 17:02
["Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics"] article 181994093	Genetics in Medicine 2023	available manual_upload	processed european	2026-05-29 17:02
["CRISPR-Cas9-mediated functional dissection of the foxc1 genomic region in zebrafish identifies critical conserved cis-regulatory elements"] article 184315977	Human Genomics 2022	available manual_upload	processed none flagged	2026-05-29 17:02
["Issue Information"] article 185803759	Genetic Epidemiology 2022	available manual_upload	processed other	2026-05-29 17:02
["Deciphering complex rearrangements at the breakpoint of an apparently balanced reciprocal translocation t(4:18)(q31;q11.2)dn and at a cryptic deletion: Further evidence of <scp><i>TLL1</i></scp> as a causative gene for atrial septal defect"] article 189298717	American Journal of Medical Genetics Part A 2022	available manual_upload	processed none flagged	2026-05-29 17:03
["A Kerato-Epithelin (βig-h3) Mutation in Lattice Corneal Dystrophy Type IIIA"] article 190282997	The American Journal of Human Genetics 1998	available manual_upload	processed other	2026-05-29 17:03
["Perspectives and preferences regarding genomic secondary findings in underrepresented prenatal and pediatric populations: A mixed-methods approach"] article 190444260	Genetics in Medicine 2022	available manual_upload	processed white, european	2026-05-29 17:03
["eP063: Genetic variants associated with childhood cancers: Curation initiatives of the ClinGen Somatic Cancer Pediatric Taskforce"] article 191084524	Genetics in Medicine 2022	available manual_upload	processed none flagged	2026-05-29 17:03
["An innovative medical school curriculum to enhance exposure to genetics and genomics: Updates and outcomes"] article 194419519	Genetics in Medicine 2022	available manual_upload	processed none flagged	2026-05-29 17:03
["Correction to: Correspondence on “AminoacyltRNA synthetase deficiencies in search of common themes” by Fuchs et al."] article 201479461	Genetics in Medicine 2021	available manual_upload	processed none flagged	2026-05-30 17:02
["Subtle differences in autonomic symptoms in people diagnosed with hypermobile Ehlers–Danlos syndrome and hypermobility spectrum disorders"] article 201873713	American Journal of Medical Genetics Part A 2021	available manual_upload	processed none flagged	2026-05-30 17:02