Genetics in Medicine : Official Journal of the American College of Medical Genetics
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Publication Venue For
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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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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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The Manchester International Consensus Group recommendations for the management of gynecological cancers in Lynch syndrome
2019
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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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Cognitive outcomes and age of detection of severe mucopolysaccharidosis type 1..
19:975-982.
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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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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CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.
17:912-918.
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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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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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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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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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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Weighing the evidence for newborn screening for early-infantile Krabbe disease..
12:539-543.
2010
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Impact of gene patents and licensing practices on access to genetic testing and carrier screening for Tay-Sachs and Canavan disease..
12:S5-S14.
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 hereditary hemochromatosis..
12:S155-S170.
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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Spinocerebellar ataxia: patient and health professional perspectives on whether and how patents affect access to clinical genetic testing..
12:S83-S110.
2010
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A blueprint for maternal and child health primary care physician education in medical genetics and genomic medicine: recommendations of the United States secretary for health and human services advisory committee on heritable disorders in newborns and children..
12:77-80.
2010
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Personalized medicine and disruptive innovation: implications for technology assessment..
11:577-581.
2009
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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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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