Genetics in medicine : official journal of the American College of Medical Genetics
Journal
Overview
publication venue for
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CORRIGENDUM: The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
2017
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RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures.
2024
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Mapping the genetic landscape of treatable inherited metabolic disorders in a large Middle Eastern biobank.
2024
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Novel insights into the phenotypic spectrum and pathogenesis of Hardikar syndrome.
2024
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Identifying factors and causal chains associated with optimal implementation of Lynch syndrome tumor screening: An application of coincidence analysis..
26.
2024
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Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
2022
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Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants..
24.
2022
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Alpelisib for the treatment of PIK3CA-related head and neck lymphatic malformations and overgrowth..
24.
2022
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Heterozygous variants in CTR9, which encodes a major component of the PAF1 complex, are associated with a neurodevelopmental disorder.
2022
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Age of first cancer diagnosis and survival in Bloom syndrome..
24.
2022
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Early age of onset and broad cancer spectrum persist in MSH6- and PMS2-associated Lynch syndrome..
24.
2022
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Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
2021
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Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders..
23.
2021
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Genome-wide investigation identifies a rare copy-number variant burden associated with human spina bifida..
23.
2021
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Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior..
23.
2021
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Plasma cell-free DNA variant analysis compared with methylated DNA analysis in renal cell carcinoma..
22.
2020
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Prevalence of pathogenic germline cancer risk variants in high-risk urothelial carcinoma..
22.
2019
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Toward automation of germline variant curation in clinical cancer genetics..
21.
2019
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Best practice guidelines regarding diagnosis and management of patients with type II collagen disorders..
21.
2019
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TBX6-associated congenital scoliosis (TACS) as a clinically distinguishable subtype of congenital scoliosis: further evidence supporting the compound inheritance and TBX6 gene dosage model..
21.
2019
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An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease..
21.
2018
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Germline cancer susceptibility gene variants, somatic second hits, and survival outcomes in patients with resected pancreatic cancer..
21.
2018
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Analysis of 17 genes detects mutations in 81% of 811 patients with lissencephaly..
20.
2018
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Point-of-care whole-exome sequencing of idiopathic male infertility..
20.
2018
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CGG repeat length and AGG interruptions as indicators of fragile X-associated diminished ovarian reserve..
20.
2017
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Pilot study of population-based newborn screening for spinal muscular atrophy in New York state..
20.
2017
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Assigning clinical meaning to somatic and germ-line whole-exome sequencing data in a prospective cancer precision medicine study..
19.
2017
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The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations..
18.
2016
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Oncologists' and cancer patients' views on whole-exome sequencing and incidental findings: results from the CanSeq study..
18.
2016
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Capture-based high-coverage NGS: a powerful tool to uncover a wide spectrum of mutation types..
18.
2015
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Clinical phenotype of the recurrent 1q21.1 copy-number variant..
18.
2015
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Multifactorial beliefs about the role of genetics and behavior in common health conditions: prevalence and associations with participant characteristics and engagement in health behaviors..
16.
2014
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Description and pilot results from a novel method for evaluating return of incidental findings from next-generation sequencing technologies..
15.
2013
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Disparities in the diagnostic process of Duchenne and Becker muscular dystrophy..
13.
2011
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Informed consent to microsatellite instability and immunohistochemistry screening for Lynch syndrome..
13.
2011
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Recall of disclosed apolipoprotein E genotype and lifetime risk estimate for Alzheimer's disease: the REVEAL Study..
8.
2006
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The diagnostic utility of a genetics evaluation in children with pervasive developmental disorders..
8.
2006
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Who seeks genetic susceptibility testing for Alzheimer's disease? Findings from a multisite, randomized clinical trial..
6.
2004
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Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing..
4.
2002
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Insurance reimbursement for risk-reducing mastectomy and oophorectomy in women with BRCA1 or BRCA2 mutations..
3.
2001
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Recommendations from the EGAPP Working Group: can testing of tumor tissue for mutations in EGFR pathway downstream effector genes in patients with metastatic colorectal cancer improve health outcomes by guiding decisions regarding anti-EGFR therapy?
2013
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The Scientific Foundation for personal genomics: recommendations from a National Institutes of Health-Centers for Disease Control and Prevention multidisciplinary workshop.
2009
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Systematic evidence review and meta-analysis of outcomes associated with cancer genetic counseling.
2023
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An updated counseling framework for moderate-penetrance colorectal cancer susceptibility genes.
2022
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PMS2 monoallelic mutation carriers: the known unknown.
2015
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Recommendations from the EGAPP Working Group: does genomic profiling to assess type 2 diabetes risk improve health outcomes?
2013
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