Author details

Full Name

Megan J Puckelwartz

Affiliation

Center for Genetic Medicine, Northwestern University Feinberg School of Medicine

ORCID

Career Start Year

2009

Papers

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
35904451	Opposing effects of genetic variation in MTCH2 for obesity versus heart failure.	Hum Mol Genet	2023
37034657	The impact of damaging epilepsy and cardiac genetic variant burden in sudden death in the young.	medRxiv	2023
36621880	Returning integrated genomic risk and clinical recommendations: The eMERGE study.	Genet Med	2023
36540998	Quantifying factors that affect polygenic risk score performance across diverse ancestries and age groups for body mass index.	Pac Symp Biocomput	2023
35262243	Genetically based atrial fibrillation: Current considerations for diagnosis and management.	J Cardiovasc Electrophysiol	2022
35533732	Partial and complete loss of myosin binding protein H-like cause cardiac conduction defects.	J Mol Cell Cardiol	2022
36376295	Genome-wide association and multi-trait analyses characterize the common genetic architecture of heart failure.	Nat Commun	2022
36216474	Pathogenic genes associated with sudden unexpected death in pediatrics.	J Pediatr	2022
33439236	Identification of Cardiac Fibrosis in Young Adults With a Homozygous Frameshift Variant in SERPINE1.	JAMA Cardiol	2021
33851998	Genome-wide association for heart failure: from discovery to clinical use.	Eur Heart J	2021
33764162	Genomic Context Differs Between Human Dilated Cardiomyopathy and Hypertrophic Cardiomyopathy.	J Am Heart Assoc	2021
35004883	South Asian-Specific <i>MYBPC3</i> <sup>Î¿25bp</sup> Deletion Carriers Display Hypercontraction and Impaired Diastolic Function Under Exercise Stress.	Front Cardiovasc Med	2021
34495307	Early-Onset Atrial Fibrillation and Heritable Heart Disease-To Test or Not to Test?	JAMA Cardiol	2021
34379075	Genomic Autopsy of Sudden Deaths in Young Individuals.	JAMA Cardiol	2021
33951936	Practice Patterns After Return of Rare Variants Associated With Cardiomyopathy in the Electronic Medical Records and Genomics Network.	Circ Heart Fail	2021
34003581	Mitochondrial cardiomyopathy and ventricular arrhythmias associated with biallelic variants in C1QBP.	Am J Med Genet A	2021
33478249	Genetic Variation in Enhancers Modifies Cardiomyopathy Gene Expression and Progression.	Circulation	2021
32543992	South Asian-Specific <i>MYBPC3</i><sup><i>Î¿25bp</i></sup> Intronic Deletion and Its Role in Cardiomyopathies and Heart Failure.	Circ Genom Precis Med	2020
32009526	Pathogenic and Uncertain Genetic Variants Have Clinical Cardiac Correlates in Diverse Biobank Participants.	J Am Heart Assoc	2020
32885733	Prevalence of Abnormal Heart Weight After Sudden Death in People Younger than 40 Years of Age.	J Am Heart Assoc	2020
32993371	Altered Enhancer and Promoter Usage Leads to Differential Gene Expression in the Normal and Failed Human Heart.	Circ Heart Fail	2020
30298529	The eMERGE genotype set of 83,717 subjects imputed to ~40â¿¿million variants genome wide and association with the herpes zoster medical record phenotype.	Genet Epidemiol	2019
29490332	Reducing Racial/Ethnic Disparities in Cardiovascular Genetic Testing.	JAMA Cardiol	2018
30623133	Modeling Human Dilated Cardiomyopathy Using Humans.	JACC Basic Transl Sci	2018
30282816	Prelamin A causes aberrant myonuclear arrangement and results in muscle fiber weakness.	JCI Insight	2018
29641836	Association of Cardiomyopathy With MYBPC3 D389V and MYBPC3Î¿25bpIntronic Deletion in South Asian Descendants.	JAMA Cardiol	2018
29720576	Efficient exon skipping of SGCG mutations mediated by phosphorodiamidate morpholino oligomers.	JCI Insight	2018
28611034	The Missing <i>LINC</i> for Genetic Cardiovascular Disease?	Circ Cardiovasc Genet	2017
28314579	Keeping the customers stratified: moving toward genetics-based treatment options in childhood NS.	Kidney Int	2017
28398466	Novel nesprin-1 mutations associated with dilated cardiomyopathy cause nuclear envelope disruption and defects in myogenesis.	Hum Mol Genet	2017
29030407	Hypertrophic Cardiomyopathy Gene Testing: Go Big?	Circ Cardiovasc Genet	2017
28778945	Experimental Modeling Supports a Role for MyBP-HL as a Novel Myofilament Component in Arrhythmia and Dilated Cardiomyopathy.	Circulation	2017
25651172	The genetic landscape of cardiomyopathy and its role in heart failure.	Cell Metab	2015
26040335	Genetic Variation in Cardiomyopathy and Cardiovascular Disorders.	Circ J	2015
25948554	Disruption of the lamin A and matrin-3 interaction by myopathic LMNA mutations.	Hum Mol Genet	2015
24705294	Genetic profiling for risk reduction in human cardiovascular disease.	Genes (Basel)	2014
25179549	Targeted analysis of whole genome sequence data to diagnose genetic cardiomyopathy.	Circ Cardiovasc Genet	2014
24526712	Supercomputing for the parallelization of whole genome analysis.	Bioinformatics	2014
23281406	Genetic mutations and mechanisms in dilated cardiomyopathy.	J Clin Invest	2013
22763267	Population-based variation in cardiomyopathy genes.	Circ Cardiovasc Genet	2012
21496632	Emery-Dreifuss muscular dystrophy.	Handb Clin Neurol	2011
21818408	Gene expression, chromosome position and lamin A/C mutations.	Nucleus	2011
20108321	Nesprins, but not sun proteins, switch isoforms at the nuclear envelope during muscle development.	Dev Dyn	2010
21179469	Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutation.	PLoS One	2010
19944109	Nesprin-1 mutations in human and murine cardiomyopathy.	J Mol Cell Cardiol	2010
19008300	Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice.	Hum Mol Genet	2009
19542096	Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis.	Hum Mol Genet	2009

1 - 47 of 47

Annika M Dries

Center for Inherited Cardiovascular Disease, Stanford University School of Medicine

Career Start Year 2017

Number of shared co-authors 2

Jessica X Chong

Brotman Baty Institute for Precision Medicine, University of Washington

Career Start Year 2011

Number of shared co-authors 5

Andrew M Glazer

Vanderbilt University

Career Start Year 2010

Number of shared co-authors 28

Samantha Baxter

Broad Institute of MIT and Harvard

Career Start Year 2009

Number of shared co-authors 4

Seung Hoan Choi

Broad Institute of MIT and Harvard

Career Start Year 2009

Number of shared co-authors 15

John D Overton

Regeneron Pharmaceuticals

Career Start Year 2008

Number of shared co-authors 17

Christoph Preuss

Universite de Montreal

Career Start Year 2007

Number of shared co-authors 1

Erin M Miller

College of Medicine, University of Cincinnati

Career Start Year 2006

Number of shared co-authors 10

Johan M Bos

Mayo Clinic, Windland Smith Rice Genetic Heart Rhythm Clinic)

Career Start Year 2005

Number of shared co-authors 5

Victoria N Parikh

Stanford University

Career Start Year 2005

Number of shared co-authors 5

Christian M Shaffer

Vanderbilt University

Career Start Year 2004

Number of shared co-authors 49

James R Priest

Stanford University School of Medicine

Career Start Year 2004

Number of shared co-authors 7

Angharad M Roberts

National Heart and Lung Institute, Imperial College London

Career Start Year 2003

Number of shared co-authors 2

Daniel G MacArthur

Broad Institute of MIT and Harvard

Career Start Year 2003

Number of shared co-authors 24

Sarah E Topol

The Scripps Research Translational Institute, The Scripps Research Institute

Career Start Year 2003

Number of shared co-authors 0

John L Jefferies

University of Tennessee Health Sciences Centre

Career Start Year 2003

Number of shared co-authors 3

Kevin Bersell

Vanderbilt University

Career Start Year 2001

Number of shared co-authors 7

Matthew R G Taylor

Cardiovascular Institute, University of Colorado

Career Start Year 2001

Number of shared co-authors 5

Amy E Roberts

Boston Children's Hospital, Harvard Medical School

Career Start Year 1998

Number of shared co-authors 5

Ulrich Broeckel

Medical College of Wisconsin

Career Start Year 1998

Number of shared co-authors 14

Seema Mital

Hospital for Sick Children

Career Start Year 1997

Number of shared co-authors 8

Arne Pfeufer

German Research Center for Environmental Health

Career Start Year 1996

Number of shared co-authors 13

Birgit Funke

Partners Healthcare Center for Personalized Genetic Medicine

Career Start Year 1994

Number of shared co-authors 13

Kiran Musunuru

Perelman School of Medicine at the University of Pennsylvania

Career Start Year 1994

Number of shared co-authors 15

Calum A MacRae

Harvard Medical School and Cardiovascular Division, Brigham and Women's Hospital

Career Start Year 1991

Number of shared co-authors 18

Jeffrey A Towbin

University of Tennessee Health Science Center

Career Start Year 1986

Number of shared co-authors 6

Bruce D Gelb

Icahn School of Medicine at Mount Sinai

Career Start Year 1985

Number of shared co-authors 23

Luisa Mestroni

University of Colorado Anschutz Medical Campus

Career Start Year 1983

Number of shared co-authors 4

Michael J Ackerman

Mayo Clinic, Windland Smith Rice Genetic Heart Rhythm Clinic)

Career Start Year 1975

Number of shared co-authors 30

Christine E Seidman

Brigham and Women's Hospital (Y.K.

Career Start Year 1975

Number of shared co-authors 17

row(s) 1 - 30 of 30

Laura J Rasmussen-Torvik

Northwestern University, Center for Genetic Medicine

Co-authored papers 6

Iftikhar J Kullo

Mayo Clinic

Co-authored papers 5

Tess D Pottinger

Columbia University Irving Medical Center

Co-authored papers 5

Alfred L George

Northwestern University Feinberg School of Medicine

Co-authored papers 4

Gail P Jarvik

University of Washington Medical Center

Co-authored papers 4

Maureen E Smith

Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University

Co-authored papers 3

Hakon Hakonarson

The Center for Applied Genomics, Children's Hospital of Philadelphia

Co-authored papers 3

Rex L Chisholm

Center for Genetic Medicine, Feinberg School of Medicine, Northwestern University

Co-authored papers 3

David R Crosslin

University of Washington Medical Center

Co-authored papers 3

Marylyn D Ritchie

Center for Systems Genomics, Pennsylvania State University, University Park

Co-authored papers 3

Bahram Namjou

Cincinnati Children's Hospital

Co-authored papers 3

Leah C Kottyan

Cincinnati Children's Hospital Medical Center

Co-authored papers 3

Adam S Gordon

Northwestern University Feinberg School of Medicine.

Co-authored papers 3

Joshua C Denny

Vanderbilt University

Co-authored papers 3

Elizabeth W Karlson

Brigham and Women's Hospital

Co-authored papers 2

Wei-Qi Wei

Vanderbilt University Medical Center

Co-authored papers 2

Hemant K Tiwari

University of Alabama at Birmingham

Co-authored papers 2

Marguerite R Irvin

University of Alabama at Birmingham School of Public Health

Co-authored papers 2

Christopher G Chute

Brown University, Brown University Warren Alpert Medical School, Dartmouth-Hitchcock Medical Center, Harvard School of Public Health, Johns Hopkins Medicine, Mayo Clinic Minnesota

Co-authored papers 2

Wendy K Chung

Boston Children's Hospital, Harvard Medical School

Co-authored papers 2

Quinn S Wells

Vanderbilt University Medical Center

Co-authored papers 2

Krzysztof Kiryluk

Columbia University

Co-authored papers 2

Elisabeth A Rosenthal

University of Washington Medical Center