Genetics in Medicine : Official Journal of the American College of Medical Genetics
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Publication Venue For
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Next-generation sequencing for constitutional variants in the clinical laboratory, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG)..
23:1399-1415.
2021
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Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations.
2021
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Health and economic outcomes of newborn screening for infantile-onset Pompe disease..
23:758-766.
2021
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Integration of functional assay data results provides strong evidence for classification of hundreds of BRCA1 variants of uncertain significance..
23:306-315.
2021
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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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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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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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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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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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Glycogen storage disease type III diagnosis and management guidelines (vol 12, pg 446, 2010).
12:566-566.
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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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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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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The genetics workforce and workload..
5:55-57.
2003
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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