Author details

Full Name

Roxann G Ingersoll

Affiliation

Mc-Kusick-Nathans Institute of Genetic Medicine, Johns Hopkins

ORCID

Career Start Year

1995

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
32360898	Gain-of-function variants and overexpression of RUNX2 in patients with nonsyndromic midline craniosynostosis.	Bone	2020
30510241	Discovery of common and rare genetic risk variants for colorectal cancer.	Nat Genet	2019
29893754	Pharmacological and genomic profiling of neurofibromatosis type 1 plexiform neurofibroma-derived schwann cells.	Sci Data	2018
30140897	Association of Variants in BAG3 With Cardiomyopathy Outcomes in African American Individuals.	JAMA Cardiol	2018
27000067	A benchmark for microRNA quantification algorithms using the OpenArray platform.	BMC Bioinformatics	2016
24993872	Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing.	JAMA Ophthalmol	2014
23263489	Exome array analysis identifies new loci and low-frequency variants influencing insulin processing and secretion.	Nat Genet	2013
22414065	Polymorphisms in Toll-like receptor genes influence antibody responses to cytomegalovirus glycoprotein B vaccine.	BMC Res Notes	2012
22496803	Analysis of polymorphisms and haplotype structure of the human thymidylate synthase genetic region: a tool for pharmacogenetic studies.	PLoS One	2012
22241686	Evidence of gene-environment interaction for the RUNX2 gene and environmental tobacco smoke in controlling the risk of cleft lip with/without cleft palate.	Birth Defects Res A Clin Mol Teratol	2012
21241214	Slower clearance of nevirapine resistant virus in infants failing extended nevirapine prophylaxis for prevention of mother-to-child HIV transmission.	AIDS Res Hum Retroviruses	2011
21712540	Disruption of the ASXL1 gene is frequent in primary, post-essential thrombocytosis and post-polycythemia vera myelofibrosis, but not essential thrombocytosis or polycythemia vera: analysis of molecular genetics and clinical phenotypes.	Haematologica	2011
20087401	Association between genes on chromosome 4p16 and non-syndromic oral clefts in four populations.	Eur J Hum Genet	2010
20652317	Evidence of gene-environment interaction for the IRF6 gene and maternal multivitamin supplementation in controlling the risk of cleft lip with/without cleft palate.	Hum Genet	2010
19910028	A genome-wide association study on African-ancestry populations for asthma.	J Allergy Clin Immunol	2010
19270757	A genome wide survey of SNP variation reveals the genetic structure of sheep breeds.	PLoS One	2009
19444471	Evidence that TGFA influences risk to cleft lip with/without cleft palate through unconventional genetic mechanisms.	Hum Genet	2009
19142206	Maternal transmission effects of the PAX genes among cleft case-parent trios from four populations.	Eur J Hum Genet	2009
17713473	Germline polymorphisms in EGFR and survival in patients with lung cancer receiving gefitinib.	Clin Pharmacol Ther	2008
18688869	Excess maternal transmission of markers in TCOF1 among cleft palate case-parent trios from three populations.	Am J Med Genet A	2008
18357615	Differential parental transmission of markers in RUNX2 among cleft case-parent trios from four populations.	Genet Epidemiol	2008
17392301	Telomerase mutations in families with idiopathic pulmonary fibrosis.	N Engl J Med	2007
17702060	Reliability of high-throughput genotyping of whole genome amplified DNA in SNP genotyping studies.	Electrophoresis	2007
17438386	Association between IRF6 and nonsyndromic cleft lip with or without cleft palate in four populations.	Genet Med	2007
16355111	Variants in the gene encoding C3 are associated with asthma and related phenotypes among African Caribbean families.	Genes Immun	2006
17148776	Pharmacogenetics of ABCG2 and adverse reactions to gefitinib.	J Natl Cancer Inst	2006
16830339	Comparison of SNP tagging methods using empirical data: association study of 713 SNPs on chromosome 12q14.3-12q24.21 for asthma and total serum IgE in an African Caribbean population.	Genet Epidemiol	2006
16953426	Analysis of candidate genes on chromosome 2 in oral cleft case-parent trios from three populations.	Hum Genet	2006
16415175	High throughput SNP and expression analyses of candidate genes for non-syndromic oral clefts.	J Med Genet	2006
16399953	Novel polymorphisms in the myosin light chain kinase gene confer risk for acute lung injury.	Am J Respir Cell Mol Biol	2006
15795302	A novel assay allows genotyping of the latent reservoir for human immunodeficiency virus type 1 in the resting CD4+ T cells of viremic patients.	J Virol	2005
16243813	Effect of common CYP3A4 and CYP3A5 variants on the pharmacokinetics of the cytochrome P450 3A phenotyping probe midazolam in cancer patients.	Clin Cancer Res	2005
15900223	Characterization of CTG/CAG repeats on chromosome 18: a study of bipolar disorder.	Psychiatr Genet	2005
16100168	Hypoxia-inducible factor 1alpha polymorphism and coronary collaterals in patients with ischemic heart disease.	Chest	2005
15965248	Haplotype diversity in 11 candidate genes across four populations.	Genetics	2005
15269348	Mpl Baltimore: a thrombopoietin receptor polymorphism associated with thrombocytosis.	Proc Natl Acad Sci U S A	2004
12916025	Family-based analysis of MSX1 haplotypes for association with oral clefts.	Genet Epidemiol	2003
12186930	Persistence of wild-type virus and lack of temporal structure in the latent reservoir for human immunodeficiency virus type 1 in pediatric patients with extensive antiretroviral exposure.	J Virol	2002
11448283	HIV-1 drug resistance profiles in children and adults with viral load of <50 copies/ml receiving combination therapy.	JAMA	2001
11856867	Fibroblast growth factor receptor 2 (FGFR2): genomic sequence and variations.	Cytogenet Cell Genet	2001
11694876	A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2.	Nat Genet	2001
11038316	Trypanosoma brucei: four tandemly linked genes for fatty acyl-CoA synthetases.	Exp Parasitol	2000
10974549	Human huntingtin-associated protein (HAP-1) gene: genomic organisation and an intragenic polymorphism.	Gene	2000
10967135	Organization of the human synphilin-1 gene, a candidate for Parkinson's disease.	Mamm Genome	2000
9847317	Full-length human immunodeficiency virus type 1 genomes from subtype C-infected seroconverters in India, with evidence of intersubtype recombination.	J Virol	1999
10581021	Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.	Nat Genet	1999
9657855	Gene structure and map location of the murine homolog of the Huntington-associated protein, Hap1.	Mamm Genome	1998
9302263	A novel, heritable, expanding CTG repeat in an intron of the SEF2-1 gene on chromosome 18q21.1.	Hum Mol Genet	1997
8733127	cDNA cloning of a human homologue of the Caenorhabditis elegans cell fate-determining gene mab-21: expression, chromosomal localization and analysis of a highly polymorphic (CAG)n trinucleotide repeat.	Hum Mol Genet	1996
8965642	DRPLA gene (atrophin-1) sequence and mRNA expression in human brain.	Brain Res Mol Brain Res	1996

1 - 50 of 52

Stacey Gabriel

Broad Institute of MIT and Harvard

Career Start Year 2001

Number of shared co-authors 25

Alexandre Montpetit

McGill University and Genome Quebec Innovation Centre

Career Start Year 1998

Number of shared co-authors 14

Andrew E Timms

Center for Integrative Brain Research, Seattle Children's Research Institute

Career Start Year 1998

Number of shared co-authors 3

Michael O Dorschner

University of Washington

Career Start Year 1997

Number of shared co-authors 6

Unnur Thorsteinsdottir

University of Iceland

Career Start Year 1995

Number of shared co-authors 21

Rhian Gwilliam

The Wellcome Trust Sanger Institute

Career Start Year 1994

Number of shared co-authors 16

Stanley F Nelson

university of california los angeles

Career Start Year 1993

Number of shared co-authors 8

Panos Deloukas

William Harvey Research Institute, Queen Mary University of London

Career Start Year 1992

Number of shared co-authors 22

Stephen W Scherer

The Hospital for Sick Children

Career Start Year 1990

Number of shared co-authors 18

Michael J Bamshad

University of Washington

Career Start Year 1989

Number of shared co-authors 15

Anthony J Brookes

University of Leicester

Career Start Year 1989

Number of shared co-authors 4

Donna M Muzny

Baylor College of Medicine

Career Start Year 1988

Number of shared co-authors 21

Lawrence C Brody

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1988

Number of shared co-authors 10

Steven E Scherer

Baylor College of Medicine

Career Start Year 1987

Number of shared co-authors 7

Richard A Gibbs

Baylor College of Medicine

Career Start Year 1987

Number of shared co-authors 24

Pui-Yan Kwok

Cardiovascular Research Institute, University of California San Francisco

Career Start Year 1987

Number of shared co-authors 17

Juha Kere

Folkhalsan Research Center, University of Helsinki

Career Start Year 1987

Number of shared co-authors 11

Jiannis Ragoussis

McGill University

Career Start Year 1986

Number of shared co-authors 1

Eric S Lander

Vanderbilt-Ingram Cancer Center, Vanderbilt University

Career Start Year 1986

Number of shared co-authors 20

James C Mullikin

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1985

Number of shared co-authors 12

Xavier Estivill

Sidra Medical Center

Career Start Year 1983

Number of shared co-authors 9

Thomas Meitinger

Technical University of Munich, Institute of Human Genetics

Career Start Year 1982

Number of shared co-authors 22

Kari Stefansson

University of Iceland

Career Start Year 1980

Number of shared co-authors 36

Michael Dean

National Cancer Institute

Career Start Year 1980

Number of shared co-authors 16

Richard M Myers

HudsonAlpha Institute for Biotechnology

Career Start Year 1980

Number of shared co-authors 20

John W Belmont

Baylor College of Medicine

Career Start Year 1979

Number of shared co-authors 11

Aravinda Chakravarti

New York University Grossman School of Medicine

Career Start Year 1977

Number of shared co-authors 24

Robert L Nussbaum

Invitae Corporation

Career Start Year 1976

Number of shared co-authors 18

Mark Lathrop

Victor Philip Dahdaleh Institute of Genomic Medicine at McGill University

Career Start Year 1975

Number of shared co-authors 28

Kelly A Frazer

University of California, USA Institute for Genomic Medicine

Career Start Year 1967

Number of shared co-authors 7

row(s) 1 - 30 of 30

Alan F Scott

Johns Hopkins University School of Medicine

Co-authored papers 18

Margaret Daniele Fallin

Co-authored papers 14

Kathleen C Barnes

Co-authored papers 4

Laura M Kasch

Johns Hopkins School of Medicine

Co-authored papers 4

Melvin G McInnis

University of Michigan ann arbor

Co-authored papers 4

Kimberly F Doheny

Center for Inherited Disease Research, Johns Hopkins School of Medicine

Co-authored papers 4

Ingo Ruczinski

Co-authored papers 4

Alex Sparreboom

Ohio State University

Co-authored papers 3

Jay Raymond DePaulo

Johns Hopkins University School of Medicine

Co-authored papers 3

Robert F Siliciano

Johns Hopkins University School of Medicine

Co-authored papers 3

Gon??alo R Abecasis

Regeneron Pharmaceuticals Inc.

Co-authored papers 3

Sharyn D Baker

Ohio State University

Co-authored papers 3

Alison R Moliterno

Johns Hopkins Hospital

Co-authored papers 2

David W Mohr

Johns Hopkins University School of Medicine

Co-authored papers 2

Hyun Min Kang

Co-authored papers 2

Hua Ling

Chongqing Center for Disease Control and Prevention.

Co-authored papers 2

Jeroen R Huyghe

Co-authored papers 2

Jerry L Spivak

The Johns Hopkins University School of Medicine

Co-authored papers 2

Francis J McMahon

National Institute of Mental Health, National Institutes of Health

Co-authored papers 2

Priya Duggal

Johns Hopkins Bloomberg School of Public Health

Co-authored papers 2

Donna M Williams

Johns Hopkins University School of Medicine

Co-authored papers 2

Michael R Hayden

Co-authored papers 2

Wen Hong Linda Kao

Co-authored papers 2

Elizabeth M Gillanders

National Cancer Institute, National Institutes of Health

Co-authored papers 1

Alexis Brice

Sorbonne University, Paris Brain Institute - ICM, Inserm, CNRS

Co-authored papers 1

Syed H E Zaidi

Ontario Institute for Cancer Research

Co-authored papers 1

Josef Coresh

Co-authored papers 1

Richard B Hayes

Co-authored papers 1

Anshul Kundaje

Stanford University.

Co-authored papers 1

Sara J C Gosline

Pacific Northwest National Laboratory (PNNL)

Co-authored papers 1

1 - 30

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