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The IGNITE Pharmacogenetics Working Group: An Opportunity for Building Evidence with Pharmacogenetic Implementation in a Real‐World Setting

Clinical and translational science, 2017-05, Vol.10 (3), p.143-146

2017

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Implementation of a pharmacogenomics consult service to support the INGENIOUS trial

Clinical pharmacology and therapeutics, 2016-07, Vol.100 (1), p.63-66

2016

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Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: Results from a collaborative study

Genetics in medicine, 2004-09, Vol.6 (5), p.421-425

2004

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Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting

Clinical pharmacology and therapeutics, 2016-02, Vol.99 (2), p.172-185

2016

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Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease

Neurology, 1996-11, Vol.47 (5), p.1333-1335

1996

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Additional Copies of the Proteolipid Protein Gene Causing Pelizaeus-Merzbacher Disease Arise by Separate Integration into the X Chromosome

American journal of human genetics, 2000-07, Vol.67 (1), p.14-22

2000

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Fluorescent, multiplexed, automated, primer-extension assay for 3120+1G→A and I148T mutations in cystic fibrosis

Clinical chemistry (Baltimore, Md.), 2001-11, Vol.47 (11), p.2053-2055

2001

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Duplication 6q21q23 in two unrelated patients

American journal of medical genetics, 1998-11, Vol.80 (2), p.112-114

1998

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A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease

Neurology, 1995-02, Vol.45 (2), p.394-395

1995

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PharmVar GeneFocus: CYP3A5

Clinical pharmacology and therapeutics, 2022-12, Vol.112 (6), p.1159-1171

2022

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PharmVar GeneFocus: CYP2C9

Clinical pharmacology and therapeutics, 2021-09, Vol.110 (3), p.662-676

2021

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Laboratory testing of CYP2D6 alleles in relation to tamoxifen therapy

Genetics in medicine, 2012-12, Vol.14 (12), p.990-1000

2012

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Detection of 677CT/1298AC “double variant” chromosomes: Implications for interpretation of MTHFR genotyping results

Genetics in medicine, 2005-04, Vol.7 (4), p.278-282

2005

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DNA Studies of Limb-Girdle Muscular Dystrophy Type 2A in the Amish Exclude a Modifying Mitochondrial Gene and Show No Evidence for a Modifying Nuclear Gene

American journal of human genetics, 1997-07, Vol.61 (1), p.231-233

1997

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Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred

American journal of human genetics, 1993-06, Vol.52 (6), p.1053-1056

1993

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Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene

Clinical genetics, 1995-02, Vol.47 (2), p.99-100

1995

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A new mutation in the proteolipid protein (PLP) gene in a German family with pelizaeus-merzbacher disease

American journal of medical genetics, 1991-01, Vol.38 (1), p.136-139

1991

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Bacteriology of normal and infected conjunctiva

Journal of Clinical Microbiology, 1975-02, Vol.1 (2), p.147-149

1975

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New variant in exon 3 of the proteolipid protein (PLP) gene in a family with pelizaeus-merzbacher disease

American journal of medical genetics, 1992-06, Vol.43 (3), p.642-646

1992

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Genetics of Pelizaeus-Merzbacher disease

Developmental neuroscience, 1993, Vol.15 (6), p.383-394

1993

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Detecting colorectal cancer based on presence of methylated septin 9 DNA in plasma

Journal of clinical oncology, 2010-05, Vol.28 (15_suppl), p.e14071-e14071

2010

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The interface of Medicare coverage decision-making and emerging molecular-based laboratory testing

Genetics in medicine, 2009-04, Vol.11 (4), p.225-231

2009

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Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease

American journal of medical genetics, 1997-03, Vol.69 (2), p.121-125

1997

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Girl with signs of Pelizaeus-Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene

American journal of medical genetics, 1995-02, Vol.55 (4), p.397-401

1995

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Ahall polymorphism in human X-linked proteolipid protein gene (PLP)

Nucleic acids research, 1991-11, Vol.19 (21), p.6057-6057

1991

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The IGNITE Pharmacogenetics Working Group: An Opportunity for Building Evidence with Pharmacogenetic Implementation in a Real‐World Setting

Implementation of a pharmacogenomics consult service to support the INGENIOUS trial

Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: Results from a collaborative study

Pharmacogenetic allele nomenclature: International workgroup recommendations for test result reporting

Adult-onset neurodegenerative disorder due to proteolipid protein gene mutation in the mother of a man with Pelizaeus-Merzbacher disease

Additional Copies of the Proteolipid Protein Gene Causing Pelizaeus-Merzbacher Disease Arise by Separate Integration into the X Chromosome

Fluorescent, multiplexed, automated, primer-extension assay for 3120+1G→A and I148T mutations in cystic fibrosis

Duplication 6q21q23 in two unrelated patients

A novel mutation in exon 3 of the proteolipid protein gene in Pelizaeus-Merzbacher disease

PharmVar GeneFocus: CYP3A5

PharmVar GeneFocus: CYP2C9

Laboratory testing of CYP2D6 alleles in relation to tamoxifen therapy

Detection of 677CT/1298AC “double variant” chromosomes: Implications for interpretation of MTHFR genotyping results

DNA Studies of Limb-Girdle Muscular Dystrophy Type 2A in the Amish Exclude a Modifying Mitochondrial Gene and Show No Evidence for a Modifying Nuclear Gene

Linkage of a new mutation in the proteolipid protein (PLP) gene to Pelizaeus-Merzbacher disease (PMD) in a large Finnish kindred

Pelizaeus-Merzbacher disease: a point mutation in exon 6 of the proteolipid protein (PLP) gene

A new mutation in the proteolipid protein (PLP) gene in a German family with pelizaeus-merzbacher disease

Bacteriology of normal and infected conjunctiva

New variant in exon 3 of the proteolipid protein (PLP) gene in a family with pelizaeus-merzbacher disease

Genetics of Pelizaeus-Merzbacher disease

Detecting colorectal cancer based on presence of methylated septin 9 DNA in plasma

The interface of Medicare coverage decision-making and emerging molecular-based laboratory testing

Nonsense mutation in exon 3 of the proteolipid protein gene (PLP) in a family with an unusual form of Pelizaeus-Merzbacher disease

Girl with signs of Pelizaeus-Merzbacher disease heterozygous for a mutation in exon 2 of the proteolipid protein gene

Ahall polymorphism in human X-linked proteolipid protein gene (PLP)

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