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Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

European journal of human genetics : EJHG, 2012-01, Vol.20 (1), p.27-32

2012

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A human immunodeficiency syndrome caused by mutations in CARMIL2

Nature communications, 2017-01, Vol.8 (1), p.14209-13, Article 14209

2017

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Differences in SMN1 allele frequencies among ethnic groups within North America

Journal of medical genetics, 2009-09, Vol.46 (9), p.641-644

2009

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Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

Genetics in medicine, 2004-09, Vol.6 (5), p.387-391

2004

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Cystic Fibrosis Carrier Testing in an Ethnically Diverse US Population

Clinical chemistry (Baltimore, Md.), 2011-06, Vol.57 (6), p.841-848

2011

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Evaluation of a new Real-Time PCR Assay for the direct detection of diarrheagenic Escherichia coli in stool specimens

Diagnostic microbiology and infectious disease, 2017-05, Vol.88 (1), p.12-16

2017

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A phase I/Ib study of concurrent intravenous (IV) and intrathecal (IT) nivolumab (Nivo) for melanoma patients (pts) with leptomeningeal disease (LMD)

Annals of oncology, 2018-10, Vol.29, p.viii464-viii464

2018

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Density-dependent insect-mold interactions: effects on fungal growth and spore production

Mycologia, 2005-09, Vol.97 (5), p.996-1001

Rohlfs, M.

2005

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The Effect of Nutritive Yeasts on the Fitness of the Fruit Fly Drosophila melanogaster (Diptera: Drosophilidae)

African entomology, 2016-03, Vol.24 (1), p.90-99

2016

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Saprophagous insect larvae, Drosophila melanogaster, profit from increased species richness in beneficial microbes

Journal of applied entomology (1986), 2010-09, Vol.134 (8), p.667-671

2010

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Association Between Hemochromatosis (HFE) Gene Mutation Carrier Status and the Risk of Colon Cancer

JNCI : Journal of the National Cancer Institute, 2003-01, Vol.95 (2), p.154-159

2003

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CFTR mutation distribution among U.S. Hispanic and African American individuals: Evaluation in cystic fibrosis patient and carrier screening populations

Genetics in medicine, 2004-09, Vol.6 (5), p.392-399

2004

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Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis

Obstetrics and gynecology (New York. 1953), 2008-03, Vol.111 (3), p.596-601

2008

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The I148T CFTR allele occurs on multiple haplotypes: A complex allele is associated with cystic fibrosis

Genetics in medicine, 2002-09, Vol.4 (5), p.319-323

2002

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Depressed expression of adipocyte β-adrenergic receptors is a common feature of congenital and diet-induced obesity in rodents

International Journal of Obesity, 1999-07, Vol.23 (7), p.669-677

1999

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Development of Genomic Reference Materials for Cystic Fibrosis Genetic Testing

The Journal of molecular diagnostics : JMD, 2009-05, Vol.11 (3), p.186-193

2009

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Development of genomic reference materials for Huntington disease genetic testing

Genetics in medicine, 2007-10, Vol.9 (10), p.719-723

2007

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DOP34 Human MD2 deficiency - an inborn error of immunity predisposing to early onset Inflammatory Bowel Disease

Journal of Crohn's and colitis, 2023-01, Vol.17 (Supplement_1), p.i97-i97

2023

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A Rare Case of Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) Presenting With Hemophagocytosis Complicated With Hodgkin Lymphoma

Journal of pediatric hematology/oncology, 2020-03, Vol.42 (2), p.156-159

2020

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Consensus Characterization of 16 FMR1 Reference Materials: A Consortium Study

The Journal of molecular diagnostics : JMD, 2008, Vol.10 (1), p.2-12

2008

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Direct detection of mutations in the breast and ovarian cancer susceptibility gene BRCA1 by PCR-mediated site-directed mutagenesis

Clinical chemistry (Baltimore, Md.), 1997-01, Vol.43 (1), p.24-29

1997

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P425 Development of an enzyme-linked immunosorbent assay for therapeutic drug monitoring of ustekinumab

Journal of Crohn's and colitis, 2019-01, Vol.13 (Supplement_1), p.S322-S322

2019

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1301TiPA phase I/Ib study of concurrent intravenous (IV) and intrathecal (IT) nivolumab (Nivo) for melanoma patients (pts) with leptomeningeal disease (LMD)

Annals of oncology, 2018-10, Vol.29 (suppl_8)

2018

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Genetic Variation and the Role of Insect Life History Traits in the Ability of Drosophila Larvae to Develop in the Presence of a Competing Filamentous Fungus

Evolutionary ecology, 2006-05, Vol.20 (3), p.271-289

Rohlfs, Marko

2006

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Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

A human immunodeficiency syndrome caused by mutations in CARMIL2

Differences in SMN1 allele frequencies among ethnic groups within North America

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel

Cystic Fibrosis Carrier Testing in an Ethnically Diverse US Population

Evaluation of a new Real-Time PCR Assay for the direct detection of diarrheagenic Escherichia coli in stool specimens

A phase I/Ib study of concurrent intravenous (IV) and intrathecal (IT) nivolumab (Nivo) for melanoma patients (pts) with leptomeningeal disease (LMD)

Density-dependent insect-mold interactions: effects on fungal growth and spore production

The Effect of Nutritive Yeasts on the Fitness of the Fruit Fly Drosophila melanogaster (Diptera: Drosophilidae)

Saprophagous insect larvae, Drosophila melanogaster, profit from increased species richness in beneficial microbes

Association Between Hemochromatosis (HFE) Gene Mutation Carrier Status and the Risk of Colon Cancer

CFTR mutation distribution among U.S. Hispanic and African American individuals: Evaluation in cystic fibrosis patient and carrier screening populations

Prevalence and instability of fragile X alleles: implications for offering fragile X prenatal diagnosis

The I148T CFTR allele occurs on multiple haplotypes: A complex allele is associated with cystic fibrosis

Depressed expression of adipocyte β-adrenergic receptors is a common feature of congenital and diet-induced obesity in rodents

Development of Genomic Reference Materials for Cystic Fibrosis Genetic Testing

Development of genomic reference materials for Huntington disease genetic testing

DOP34 Human MD2 deficiency - an inborn error of immunity predisposing to early onset Inflammatory Bowel Disease

A Rare Case of Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS) Presenting With Hemophagocytosis Complicated With Hodgkin Lymphoma

Heterozygous OAS1 gain-of-function variants cause an autoinflammatory immunodeficiency

Consensus Characterization of 16 FMR1 Reference Materials: A Consortium Study

Direct detection of mutations in the breast and ovarian cancer susceptibility gene BRCA1 by PCR-mediated site-directed mutagenesis

P425 Development of an enzyme-linked immunosorbent assay for therapeutic drug monitoring of ustekinumab

1301TiPA phase I/Ib study of concurrent intravenous (IV) and intrathecal (IT) nivolumab (Nivo) for melanoma patients (pts) with leptomeningeal disease (LMD)

Genetic Variation and the Role of Insect Life History Traits in the Ability of Drosophila Larvae to Develop in the Presence of a Competing Filamentous Fungus

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