Genetics in Medicine

Clinical evaluation and etiologic diagnosis of hearing loss: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).  24:1392-1406. 2022

TTR variants in patients with dilated cardiomyopathy: An investigation of the DCM Precision Medicine Study.  24:1495-1502. 2022

Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome.  24:1283-1296. 2022

Integration of stakeholder engagement from development to dissemination in genomic medicine research: Approaches and outcomes from the CSER Consortium.  24:1108-1119. 2022

Erratum: PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families (Genet Med (2021) 23(2415-2425))(s41436021012966)(10.1038/s41436-021-01296-6)).  24:967. 2022

Genome sequencing as a first-line diagnostic test for hospitalized infants.  24:851-861. 2022

Interpretation and reporting of large regions of homozygosity and suspected consanguinity/uniparental disomy, 2021 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG).  24:255-261. 2022

Stankiewicz-Isidor syndrome: expanding the clinical and molecular phenotype.  24:179-191. 2022

The relationship between performance on the medical genetics and genomics in-training and certifying examinations.  24:225-231. 2022

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation 2022

Correction to: An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids (Genetics in Medicine (2021) 23(4) (740–750), (S1098360021024461), (10.1038/s41436-020-01027-3)).  23:2467. 2021

PPA2-associated sudden cardiac death: extending the clinical and allelic spectrum in 20 new families.  23:2415-2425. 2021

Treatment of ARS deficiencies with specific amino acids.  23:2202-2207. 2021

Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).  23:1818-1829. 2021

Correction: Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations (Genetics in Medicine, (2021), 23, 10, (1922-1932), 10.1038/s41436-021-01232-8).  23:2016. 2021

Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11.  23:1889-1900. 2021

One is the loneliest number: genotypic matchmaking using the electronic health record.  23:1830-1832. 2021

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.  23:1922-1932. 2021

Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma.  23:1779-1782. 2021

Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation.  23:1506-1513. 2021

Ensuring best practice in genomics education and evaluation: reporting item standards for education and its evaluation in genomics (RISE2 Genomics).  23:1356-1365. 2021

DLG4-related synaptopathy: a new rare brain disorder.  23:888-899. 2021

A state-based approach to genomics for rare disease and population screening.  23:777-781. 2021

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids.  23:740-750. 2021

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science.  23:259-271. 2021

Identifying rare, medically relevant variation via population-based genomic screening in Alabama: opportunities and pitfalls.  23:280-288. 2021

JARID2 haploinsufficiency is associated with a clinically distinct neurodevelopmental syndrome.  23:374-383. 2021

The broad phenotypic spectrum of PPP2R1A-related neurodevelopmental disorders correlates with the degree of biochemical dysfunction.  23:352-362. 2021

Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyria.  23:140-148. 2021

Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1.  22:2081-2088. 2020

Correction: Evaluating the extent of reusability of CYP2C19 genotype data among patients genotyped for antiplatelet therapy selection (Genetics in Medicine, (2020), 22, 11, (1898-1902), 10.1038/s41436-020-0894-2).  22:1919. 2020

Evaluating the extent of reusability of CYP2C19 genotype data among patients genotyped for antiplatelet therapy selection.  22:1898-1902. 2020

Late morbidity and mortality in adult survivors of childhood glioma with neurofibromatosis type 1: report from the Childhood Cancer Survivor Study.  22:1794-1802. 2020

Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria.  22:590-597. 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

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.  21:887-895. 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.  19:674-676. 2017

Corrigendum: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing (Genetics in Medicine (2013) 15 (565-574) DOI: 10.1038/gim.2013.73).  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

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

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

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

A timely arrival for genomic medicine.  13:195-196. 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

Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease.  13:255-262. 2011

AsktheGeneticist^SM: 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

Survey of physician knowledge about hemochromatosis.  4:136-141. 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

Inheritance of two HFE mutations in African Americans: Cases with hemochromatosis phenotypes and estimates of hemochromatosis phenotype frequency.  3:294-300. 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

Diagnosis of hemochromatosis in family members of probands: a comparison of phenotyping and HFE genotyping..  1:89-93. 1999

HER-2/neu gene amplification in stages I-IV breast cancer detected by fluorescent in situ hybridization..  1:98-103. 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