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