Genetics in Medicine

Journal

Publication Venue For

  • Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria.  22:590-597. 2020
  • Correction: Evaluating the extent of reusability of CYP2C19 genotype data among patients genotyped for antiplatelet therapy selection (Genetics in Medicine, (2020), 10.1038/s41436-020-0894-2) 2020
  • Evaluating the extent of reusability of CYP2C19 genotype data among patients genotyped for antiplatelet therapy selection 2020
  • Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria 2020
  • Late morbidity and mortality in adult survivors of childhood glioma with neurofibromatosis type 1: report from the Childhood Cancer Survivor Study 2020
  • Return of raw data in genomic testing and research: ownership, partnership, and risk–benefit.  22:12-14. 2020
  • Multi-site investigation of strategies for the clinical implementation of CYP2D6 genotyping to guide drug prescribing.  21:2255-2263. 2019
  • Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC).  21:1903-1915. 2019
  • Stakeholders’ views on the value of outcomes from clinical genetic and genomic interventions.  21:1371-1380. 2019
  • A logic model for precision medicine implementation informed by stakeholder views and implementation science.  21:1139-1154. 2019
  • Response to Hannah-Shmouni and Stratakis.  21:1256. 2019
  • Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation.  21:867-876. 2019
  • Correction to: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation (Genetics in Medicine, (2018), 10.1038/s41436-018-0269-0).  21:764-765. 2019
  • A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative.  21:161-172. 2019
  • Genomic sequencing identifies secondary findings in a cohort of parent study participants.  20:1635-1643. 2018
  • Laboratory analysis of amino acids, 2018 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).  20:1499-1507. 2018
  • Care of adults with neurofibromatosis type 1: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).  20:671-682. 2018
  • Looking beyond the exome: A phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.  20:464-469. 2018
  • Report on the Banbury Summit Meeting on medical genetics training in the genomic era, 23-26 February 2014.  19:1-6. 2017
  • CORRIGENDUM: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing..  19:606. 2017
  • Clinical relevance of small copy-number variants in chromosomal microarray clinical testing.  19:377-385. 2017
  • Eliciting preferences on secondary findings: The Preferences Instrument for Genomic Secondary Results.  19:337-344. 2017
  • Laboratory diagnosis of creatine deficiency syndromes: A technical standard and guideline of the American College of Medical Genetics and Genomics.  19:256-263. 2017
  • Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): A policy statement of the American College of Medical Genetics and Genomics.  19:249-255. 2017
  • Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2.  19:13-19. 2017
  • Recommendations for the integration of genomics into clinical practice.  18:1075-1084. 2016
  • Section E6.1-6.4 of the ACMG technical standards and guidelines: Chromosome studies of neoplastic blood and bone marrow-acquired chromosomal abnormalities.  18:635-642. 2016
  • Section E6.5-6.8 of the ACMG technical standards and guidelines: Chromosome studies of lymph node and solid tumor-acquired chromosomal abnormalities.  18:643-648. 2016
  • Clinical phenotype of the recurrent 1q21.1 copy-number variant.  18:341-349. 2016
  • Pushing the envelope in genomics education.  17:857-858. 2015
  • The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated.  16:736-737. 2014
  • American college of medical genetics and genomics guideline for the clinical evaluation and etiologic diagnosis of hearing loss.  16:347-355. 2014
  • Framework for development of physician competencies in genomic medicine: Report of the competencies working group of the inter-society coordinating committee for physician education in genomics.  16:804-809. 2014
  • Jaffe-Campanacci syndrome, revisited: Detailed clinical and molecular analyses determine whether patients have neurofibromatosis type 1, coincidental manifestations, or a distinct disorder.  16:448-459. 2014
  • The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: A proposed categorization system.  16:92-100. 2014
  • Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: Data from the Fabry Registry.  15:958-965. 2013
  • Response to Townsend et al..  15:752-753. 2013
  • Implementing genomic medicine in the clinic: The future is here.  15:258-267. 2013
  • Return of research results from genomic biobanks: A call for data.  15:159-160. 2013
  • Return of research results from genomic biobanks: Cost matters.  15:103-105. 2013
  • ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.  15:565-574. 2013
  • The development and implementation of an in-service exam for medical genetics residency programs.  14:552-557. 2012
  • Exploring concordance and discordance for return of incidental findings from clinical sequencing.  14:405-410. 2012
  • Practical implementation issues and challenges for biobanks in the return of individual research results.  14:478-483. 2012
  • Competencies for the physician medical geneticist in the 21st century.  13:911-912. 2011
  • Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project.  13:230-254. 2011
  • Genetics and genomics education: The next generation.  13:201-202. 2011
  • AsktheGeneticistSM: Five years of online experience.  11:294-304. 2009
  • A pilot assessment of parental practices and attitudes regarding risk disclosure and clinical research involving children in Huntington disease families.  10:811-819. 2008
  • The use of role-play to enhance medical student understanding of genetic counseling.  10:739-744. 2008
  • Report of the Banbury Summit Meeting on the evolving role of the medical geneticist, February 12-14, 2006.  10:502-507. 2008
  • Developing a national collaborative study system for rare genetic diseases.  10:325-329. 2008
  • Results communication and patient education after screening for possible hemochromatosis and iron overload: Experience from the HEIRS Study of a large ethnically and linguistically diverse group.  9:778-791. 2007
  • Health-related quality of life in a racially diverse population screened for hemochromatosis: Results from the Hemochromatosis and Iron Overload Screening (HEIRS) study.  9:705-712. 2007
  • Impact of hemochromatosis screening in patients with indeterminate results: The hemochromatosis and iron overload screening study.  8:681-687. 2006
  • Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement.  8:539-548. 2006
  • Patient acceptability of genotypic testing for hemochromatosis in primary care.  7:557-563. 2005
  • Report of Banbury Summit meeting on training of physicians in medical genetics, October 20-22, 2004.  7:433-438. 2005
  • Concerns in a primary care population about genetic discrimination by insurers.  7:311-316. 2005
  • Genetics in medical practice: The need for ultimate makeover.  7:293-294. 2005
  • Genetic testing for deafness is here, but how do we do it?.  6:463-464. 2004
  • Outline of a medical genetics curriculum for internal medicine residency training programs.  6:543-547. 2004
  • Genetic testing for alpha1-antitrypsin deficiency..  6:204-210. 2004
  • Early childhood hearing loss: Clinical and molecular genetics. An educational slide set of the American College of Medical Genetics.  5:338-341. 2003
  • Attitudes of African American premedical students toward genetic testing and screening.  5:49-54. 2003
  • Genetics in medical practice..  4:10S-14S. 2002
  • Integration of genetics into clinical teaching in medical school education..  4:33S-38S. 2002
  • Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.  4:279-288. 2002
  • Cardiovascular disease in neurofibromatosis 1: Report of the NF1 Cardiovascular Task Force.  4:105-111. 2002
  • Response to Lacassie.  4:96. 2002
  • American College of Medical Genetics Consensus Statement on Factor V Leiden Mutation Testing.  3:139-148. 2001
  • Considerations for a multiaxis nomenclature system for medical genetics.  3:290-293. 2001
  • Townes-Brocks syndrome versus expanded spectrum hemifacial microsomia: Review of eight patients and further evidence of a "hot spot" for mutation in the SALL1 gene.  3:310-313. 2001
  • Detection of mosaicism in amniotic fluid cultures: a CYTO2000 collaborative study..  1:94-97. 1999
  • A retrospective FISH study of HER‐2/neu oncogene amplification in relapsed and non‐relapsed node‐negative breast cancer.  1:47. 1999
  • Emerging approaches toward the treatment of neurofibromatoses.  1:158-164. 1999
  • Exon 10b of the NF1 gene represents a mutational hotspot and harbors a recurrent missense mutation Y489C associated with aberrant splicing.  1:248-253. 1999
  • Molecular refinement of karyotype: Beyond the cytogenetic band.  1:254-261. 1999
  • Retrospecive analysis of patients with overlapping features of townes‐brocks syndrome and goldenhar syndrome.  1:56. 1999
  • Structural anomalies reveajed by neuroimaging studies in the brains of patients with neurofibromatosis type 1 and large deletions.  1:136-140. 1999
  • International Standard Serial Number (issn)

  • 1098-3600
  • Electronic International Standard Serial Number (eissn)

  • 1530-0366