Genetics in Medicine : Official Journal of the American College of Medical Genetics
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Publication Venue For
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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..
21:887-895.
2019
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Diagnosis and management of glycogen storage diseases type VI and IX: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)..
21:772-789.
2019
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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
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Correction: 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..
21:764-765.
2019
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Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network..
21:743-747.
2019
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A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative..
21:161-172.
2019
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Comprehensive annotation of BRCA1 and BRCA2 missense variants by functionally validated sequence-based computational prediction models..
21:71-80.
2019
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Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study
2019
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Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders..
21:207-212.
2019
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The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome
2019
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ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis.
2018
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Correction: Population genomics in South East Asia captures unexpectedly high carrier frequency for treatable inherited disorders..
20:1692.
2018
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Qualitative study of system-level factors related to genomic implementation.
2018
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Stakeholders' views on the value of outcomes from clinical genetic and genomic interventions.
2018
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Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study..
20:1284-1294.
2018
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Correction: Opportunities to implement a sustainable genomic medicine program: lessons learned from the IGNITE Network.
2018
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Informative priors on fetal fraction increase power of the noninvasive prenatal screen..
20:817-824.
2018
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Implementation, adoption, and utility of family health history risk assessment in diverse care settings: evaluating implementation processes and impact with an implementation framework.
2018
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Developing a common framework for evaluating the implementation of genomic medicine interventions in clinical care: the IGNITE Network's Common Measures Working Group..
20:655-663.
2018
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A proposed approach to accelerate evidence generation for genomic-based technologies in the context of a learning health system..
20:390-396.
2018
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Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases..
20:464-469.
2018
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A randomized controlled trial of disclosing genetic risk information for Alzheimer disease via telephone..
20:132-141.
2018
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Response to de Vries et al..
19:1281-1282.
2017
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Making genomic medicine evidence-based and patient-centered: a structured review and landscape analysis of comparative effectiveness research..
19:1081-1091.
2017
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Cognitive outcomes and age of detection of severe mucopolysaccharidosis type 1..
19:975-982.
2017
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Improving biobank consent comprehension: a national randomized survey to assess the effect of a simplified form and review/retest intervention..
19:505-512.
2017
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Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics..
19:256-263.
2017
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Newborn screening for X-linked adrenoleukodystrophy: evidence summary and advisory committee recommendation..
19:121-126.
2017
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Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State..
18:1235-1243.
2016
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What are people willing to pay for whole-genome sequencing information, and who decides what they receive?.
18:1295-1302.
2016
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Clinical utility of a Web-enabled risk-assessment and clinical decision support program..
18:1020-1028.
2016
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Use of bioinformatic tools in primer validation..
18:855-856.
2016
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Mosaic mutations in early-onset genetic diseases..
18:746-749.
2016
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Genetic causal attributions for weight status and weight loss during a behavioral weight gain prevention intervention..
18:476-482.
2016
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Newborn screening for Krabbe disease in New York State: the first eight years' experience..
18:239-248.
2016
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Too much, too soon?: Commercial provision of noninvasive prenatal screening for subchromosomal abnormalities and beyond..
17:958-961.
2015
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CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.
17:912-918.
2015
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CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy..
17:912-918.
2015
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Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios..
17:774-781.
2015
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CORRIGENDUM: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy..
17:596.
2015
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CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy (vol 17, pg 912, 2015).
17:596-596.
2015
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Summarizing polygenic risks for complex diseases in a clinical whole-genome report..
17:536-544.
2015
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Exceptional aggressiveness of cerebral cavernous malformation disease associated with PDCD10 mutations..
17:188-196.
2015
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Informed consent for biobanking: consensus-based guidelines for adequate comprehension..
17:226-233.
2015
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Erratum: Too much, too soon?: Commercial provision of noninvasive prenatal screening for subchromosomal abnormalities and beyond (Genetics in Medicine (2015) DOI: 10.1038/gim.2015.23).
17:515.
2015
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Molecular testing for the BRCA1 and BRCA2 Ashkenazi Jewish founder mutations: a report on the College of American Pathologists proficiency testing surveys..
17:58-62.
2015
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Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics..
16:e1.
2014
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Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.
16:751-758.
2014
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Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway..
16:751-758.
2014
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Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway (vol 111, pg 236, 2014).
16:568-568.
2014
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Promoting the participant-researcher partnership..
16:228-230.
2014
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Decision-making process for conditions nominated to the recommended uniform screening panel: statement of the US Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns and Children..
16:183-187.
2014
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Analysis of left ventricular mass in untreated men and in men treated with agalsidase-β: data from the Fabry Registry..
15:958-965.
2013
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Clinical genomics in the world of the electronic health record..
15:786-791.
2013
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Response to Rosenberg et al..
15:754.
2013
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Primary-care physicians' access to genetic specialists: an impediment to the routine use of genomic medicine?.
15:513-514.
2013
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An approach to family-centered coordinated co-management for individuals with conditions identified through newborn screening..
15:174-177.
2013
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Cost-effectiveness of the 21-gene recurrence score assay in the context of multifactorial decision making to guide chemotherapy for early-stage breast cancer..
15:203-211.
2013
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American College of Medical Genetics and Genomics: standards and guidelines for documenting suspected consanguinity as an incidental finding of genomic testing..
15:150-152.
2013
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A framework for key considerations regarding point-of-care screening of newborns..
14:951-954.
2012
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Am I a control?: Genotype-driven research recruitment and self-understandings of study participants..
14:983-989.
2012
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Characterization and pathogenesis of anemia in glycogen storage disease type Ia and Ib..
14:795-799.
2012
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Clinical observation of patients with Fabry disease after switching from agalsidase beta (Fabrazyme) to agalsidase alfa (Replagal)..
14:779-786.
2012
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The emerging phenotype of long-term survivors with infantile Pompe disease..
14:800-810.
2012
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Decision analysis, economic evaluation, and newborn screening: Challenges and opportunities.
14:703-712.
2012
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Building the evidence base for decision making in cancer genomic medicine using comparative effectiveness research..
14:633-642.
2012
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Tilting at windmills no longer: a data-driven discussion of DTC DNA ancestry tests..
14:586-593.
2012
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Managing incidental findings and research results in genomic research involving biobanks and archived data sets..
14:361-384.
2012
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Offering aggregate results to participants in genomic research: opportunities and challenges..
14:490-496.
2012
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Molecular genetic testing for fragile X syndrome: laboratory performance on the College of American Pathologists proficiency surveys (2001-2009)..
14:306-312.
2012
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Enhancing geneticists' perspectives of the public through community engagement..
14:243-249.
2012
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Successful immune tolerance induction to enzyme replacement therapy in CRIM-negative infantile Pompe disease..
14:135-142.
2012
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Consideration of patient preferences and challenges in storage and access of pharmacogenetic test results..
13:887-890.
2011
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What questions should newborn screening long-term follow-up be able to answer? A statement of the US Secretary for Health and Human Services' Advisory Committee on Heritable Disorders in Newborns and Children..
13:861-865.
2011
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Public attitudes toward ancillary information revealed by pharmacogenetic testing under limited information conditions..
13:723-728.
2011
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A founder mutation in the Ashkenazi Jewish population affecting messenger RNA splicing of the CCM2 gene causes cerebral cavernous malformations..
13:662-666.
2011
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Cardiovascular abnormalities in late-onset Pompe disease and response to enzyme replacement therapy..
13:625-631.
2011
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"That's a good question": university researchers' views on ownership and retention of human genetic specimens..
13:569-575.
2011
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Copy number variation in the dosage-sensitive 16p11.2 interval accounts for only a small proportion of autism incidence: a systematic review and meta-analysis..
13:377-384.
2011
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Confronting real time ethical, legal, and social issues in the Electronic Medical Records and Genomics (eMERGE) Consortium..
12:616-620.
2010
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Glycogen storage disease type III diagnosis and management guidelines (vol 12, pg 446, 2010).
12:566-566.
2010
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Simplifying informed consent for biorepositories: stakeholder perspectives..
12:567-572.
2010
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Echocardiographic manifestations of Glycogen Storage Disease III: increase in wall thickness and left ventricular mass over time..
12:413-423.
2010
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Glycogen storage disease type III diagnosis and management guidelines..
12:446-463.
2010
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Molecular analysis of the AGL gene: identification of 25 novel mutations and evidence of genetic heterogeneity in patients with Glycogen Storage Disease Type III..
12:424-430.
2010
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The electrodiagnostic characteristics of Glycogen Storage Disease Type III..
12:440-445.
2010
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Impact of gene patents and licensing practices on access to genetic testing for cystic fibrosis..
12:S194-S211.
2010
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Impact of gene patents and licensing practices on access to genetic testing for hearing loss..
12:S171-S193.
2010
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Impact of gene patents and licensing practices on access to genetic testing for inherited susceptibility to cancer: comparing breast and ovarian cancers with colon cancers..
12:S15-S38.
2010
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Impact of gene patents and licensing practices on access to genetic testing for long QT syndrome..
12:S111-S154.
2010
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Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry..
11:790-796.
2009
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Personalized medicine and disruptive innovation: implications for technology assessment..
11:577-581.
2009
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Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker..
11:536-541.
2009
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Racial differences in the interaction between family history and risk factors associated with diabetes in the National Health and Nutritional Examination Survey, 1999-2004..
11:542-547.
2009
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Clinical outcomes after long-term treatment with alglucosidase alfa in infants and children with advanced Pompe disease..
11:210-219.
2009
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Arrhythmias in patients receiving enzyme replacement therapy for infantile Pompe disease..
10:758-762.
2008
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Meta-analysis and pooled analysis of GSTM1 and CYP1A1 polymorphisms and oral and pharyngeal cancers: a HuGE-GSEC review..
10:369-384.
2008
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Pharmacogenetic testing: not as simple as it seems..
10:391-395.
2008
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Long-term follow-up after diagnosis resulting from newborn screening: statement of the US Secretary of Health and Human Services' Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children..
10:259-261.
2008
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Incorporating ethnicity into genetic risk assessment for Alzheimer disease: the REVEAL study experience..
10:207-214.
2008
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The feasibility of online genetic testing for lung cancer susceptibility: Uptake of a web-based protocol and decision outcomes (Genetics in Medicine (2008) 10, (127-130)).
10:228.
2008
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Pharmacogenetic testing of CYP2C9 and VKORC1 alleles for warfarin..
10:139-150.
2008
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The feasibility of online genetic testing for lung cancer susceptibility: uptake of a web-based protocol and decision outcomes..
10:121-130.
2008
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Review of evidence for genetic testing for CYP450 polymorphisms in management of patients with nonpsychotic depression with selective serotonin reuptake inhibitors..
9:826-835.
2007
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Update on psychiatric genetics..
9:332-340.
2007
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Erratum: Pompe disease diagnosis and management guidelines (Genetics in Medicine (May 2006) 8 (267-288)).
8:382.
2006
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Ambulatory electrocardiogram analysis in infants treated with recombinant human acid alpha-glucosidase enzyme replacement therapy for Pompe disease..
8:313-317.
2006
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Comparison of maltose and acarbose as inhibitors of maltase-glucoamylase activity in assaying acid alpha-glucosidase activity in dried blood spots for the diagnosis of infantile Pompe disease..
8:302-306.
2006
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Diagnostic challenges for Pompe disease: an under-recognized cause of floppy baby syndrome..
8:289-296.
2006
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Electrocardiographic response to enzyme replacement therapy for Pompe disease..
8:297-301.
2006
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Physical therapy management of Pompe disease..
8:318-327.
2006
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Pompe disease diagnosis and management guideline..
8:267-288.
2006
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The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease..
8:307-312.
2006
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Recurrence risks for neural tube defects in siblings of patients with lipomyelomeningocele..
7:64-67.
2005
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Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review..
6:16-26.
2004
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Klinefelter syndrome: expanding the phenotype and identifying new research directions..
5:460-468.
2003
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The genetics workforce and workload..
5:55-57.
2003
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Insurance reimbursement for risk-reducing mastectomy and oophorectomy in women with BRCA1 or BRCA2 mutations..
3:422-425.
2001
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Contribution of sickle cell disease to the occurrence of developmental disabilities: a population-based study..
3:181-186.
2001
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Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial..
3:132-138.
2001
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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