Matthew T. Wheeler

Biochemistry, Genetics and Molecular BiologyNeuroscience

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 1%percentile

40.3Author DataRank

Indexed papers

8in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 8 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Nature(2007)10.1038/nature05874

Top 1%

12.9DataRank

Top 1%5277 citations

J Stamatoyannopoulos, Simon G. Gregory, T Gingeras, Eoghan Harrington, Zhiping Weng +286 more

Papers

Driven by 88 papers — median percentile 86. Top paper: “Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project”.

Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project

Nature(2007)10.1038/nature05874

Top 1%

12.9DataRank

Top 1%5277 citations

J Stamatoyannopoulos, Simon G. Gregory, T Gingeras, Eoghan Harrington, Zhiping Weng +286 more

Initial sequencing and comparative analysis of the mouse genome

Nature(2002)10.1038/nature01262

Top 1%

12.6DataRank

Top 1%7282 citations

Robert H. Waterston, Kerstin Lindblad‐Toh, Julien Lagarde, Josep F. Abril, PANKAJ AGARWAL +189 more

A framework for human microbiome research

Nature(2012)10.1038/nature11209

Top 2%

8.4DataRank

Top 2%2766 citations

Barbara A. Methé, William Nelson, Mihai Pop, Heather H. Creasy, Michelle Giglio +236 more

Phased Whole-Genome Genetic Risk in a Family Quartet Using a Major Allele Reference Sequence

PLoS Genetics(2011)10.1371/journal.pgen.1002280

N/A

7.5DataRank · unranked

148 citations

Rong Chen, Sergio P. Cordero, Kelly E. Ormond, Colleen Caleshu, Konrad J. Karczewski +33 more

Valsartan in early-stage hypertrophic cardiomyopathy: a randomized phase 2 trial

Nature Medicine(2021)10.1038/s41591-021-01505-4

N/A

3.8DataRank · unranked

134 citations

Sharlene M. Day, Anna Axelsson Raja, Mark W. Russell, Kenneth Zahka, Harry M. Lever +40 more

Temporal dynamics of the multi-omic response to endurance exercise training

Nature(2024)10.1038/s41586-023-06877-w

Top 7%

3.4DataRank

Top 7%248 citations

Primary authors, Lead Analysts, David Amar, Nicole R. Gay, Pierre M. Jean Beltran +95 more

B cell genomics behind cross-neutralization of SARS-CoV-2 variants and SARS-CoV

Cell(2021)10.1016/j.cell.2021.04.032

N/A

2.9DataRank · unranked

100 citations

Christopher O. Barnes, Basak Eraslan, Andrew Hudak, Jennifer R. Keeffe, Lisa A. Cosimi +34 more

Structure, function and diversity of the healthy human microbiome

Nature(2012)10.1038/nature11234

N/A

1.4DataRank · unranked

10088 citations

Curtis Huttenhower, Dirk Gevers, Rob Knight, Sahar Abubucker, Jonathan H. Badger +235 more

Clinical assessment incorporating a personal genome

The Lancet(2010)10.1016/s0140-6736(10)60452-7

N/A

0.978DataRank · unranked

676 citations

Atul Janardhan Butte, Matthew T. Wheeler, Rong Chen, Teri E. Klein, Frederick E. Dewey +28 more

Long-Term Outcomes After Septal Reduction Therapies in Obstructive Hypertrophic Cardiomyopathy: Insights From the SHARE Registry

Circulation(2024)10.1161/circulationaha.124.069378

Top 21%

0.961DataRank

Top 21%47 citations

Panagiotis Antiochos, Anjali Owens, Neal Lakdwala, Sara Saberi, Mark W. Russell +24 more

Molecular adaptations in response to exercise training are associated with tissue-specific transcriptomic and epigenomic signatures

Cell Genomics(2024)10.1016/j.xgen.2023.100421

N/A

0.928DataRank · unranked

38 citations

Hanna Pinças, Gregory R. Smith, Elena Zaslavsky, Yongchao Ge, Mary Anne S. Amper +75 more

Clinical Interpretation and Implications of Whole-Genome Sequencing

JAMA(2014)10.1001/jama.2014.1717

N/A

0.919DataRank · unranked

456 citations

Megan E. Grove, Cuiping Pan, Benjamin A. Goldstein, Jonathan A. Bernstein, Hassan Chaib +26 more

Challenges in the clinical application of whole-genome sequencing

The Lancet(2010)10.1016/s0140-6736(10)60599-5

N/A

0.818DataRank · unranked

232 citations

Matthew T. Wheeler, Louanne Hudgins, Teri E. Klein, Atul Janardhan Butte, Russ B. Altman +3 more

Rare Variant Genetics and Dilated Cardiomyopathy Severity: The DCM Precision Medicine Study

Circulation(2023)10.1161/circulationaha.123.064847

Top 25%

0.805DataRank

Top 25%25 citations

Garrie J. Haas, Elizabeth Jordan, Jinwen Cao, E. Kransdorf, Gregory A. Ewald +25 more

High-throughput SARS-CoV-2 and host genome sequencing from single nasopharyngeal swabs

medRxiv(2020)10.1101/2020.07.27.20163147

Top 25%

0.801DataRank

Top 25%9 citations

Hannah N. De Jong, David Amar, Craig D. Hughes, Alexander G. Ioannidis, Rob Bierman +37 more

Physiological Adaptations to Progressive Endurance Exercise Training in Adult and Aged Rats: Insights from the Molecular Transducers of Physical Activity Consortium (MoTrPAC)

Function(2024)10.1093/function/zqae014

N/A

0.748DataRank · unranked

29 citations

Tyler J. Sagendorf, Gina M. Many, Ana K Lira, Luís Gustavo Oliveira de Sousa, Dam Bae +74 more

Low Penetrance Sarcomere Variants Contribute to Additive Risk in Hypertrophic Cardiomyopathy

Circulation(2024)10.1161/circulationaha.124.069398

N/A

0.724DataRank · unranked

22 citations

Aaron Renberg, Eric D. Smith, Yao-Chang Tsan, Brynn Elder, Abbey Bullard +27 more

Time trajectories in the transcriptomic response to exercise - a meta-analysis

Nature Communications(2021)10.1038/s41467-021-23579-x

N/A

0.719DataRank · unranked

120 citations

Maléne E. Lindholm, Jessica Norrbom, Matthew T. Wheeler, Manuel A. Rivas, Euan A. Ashley +1 more

Biomni: A General-Purpose Biomedical AI Agent

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.05.30.656746

N/A

0.700DataRank · unranked

105 citations

Serena Zhang, Hanchen Wang, Yuanhao Qu, Yingzhou Lu, Yusuf Roohani +18 more

The mitochondrial multi-omic response to exercise training across rat tissues

Cell Metabolism(2024)10.1016/j.cmet.2023.12.021

N/A

0.650DataRank · unranked

75 citations

Nicole R. Gay, David Jimenez‐Morales, Pierre M. Jean Beltran, Megan E. Ramaker, Archana N. Raja +95 more

Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics

Nature Genetics(2021)10.1038/s41588-021-00800-7

N/A

0.650DataRank · unranked

75 citations

Craig Smail, Michael J. Gloudemans, Laure Frésard, David Jakubosky, Matteo D’Antonio +22 more

Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation

JCI Insight(2021)10.1172/jci.insight.148363

N/A

0.648DataRank · unranked

74 citations

Hong Joo Kim, Lin Guo, Kevin J. O’Donovan, Inès Mademan, Tine Deconinck +21 more

Accuracy of Smartphone Camera Applications for Detecting Atrial Fibrillation

JAMA Network Open(2020)10.1001/jamanetworkopen.2020.2064

N/A

0.648DataRank · unranked

74 citations

Sam Grigg, William Crawford, Mintu P. Turakhia, Marco Perez, Erik Ingelsson +5 more

De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.02.016

N/A

0.639DataRank · unranked

70 citations

Chloe Reuter, Maura Ruzhnikov, Anita E. Beck, Emily Farrow, Lisa Emrick +91 more

Clinical sites of the Undiagnosed Diseases Network: unique contributions to genomic medicine and science

Genetics in Medicine(2020)10.1038/s41436-020-00984-z

N/A

0.564DataRank · unranked

42 citations

Cecilia Esteves, Anna Bican, Rebecca C. Spillmann, Heidi Cope, Allyn McConkie‐Rosell +89 more

TOWARDS TRANSCRIPTOMICS AS A PRIMARY TOOL FOR RARE DISEASE INVESTIGATION

Molecular Case Studies(2022)10.1101/mcs.a006198

N/A

0.553DataRank · unranked

39 citations

Jonathan A. Bernstein, Matthew T. Wheeler, Stephen B. Montgomery

The functional impact of rare variation across the regulatory cascade

Cell Genomics(2023)10.1016/j.xgen.2023.100401

N/A

0.526DataRank · unranked

15 citations

Nicole M. Ferraro, Benjamin J. Strober, François Aguet, Silva Kasela, Marios Arvanitis +33 more

Serial 7-Day Electrocardiogram Patch Screening for AF in High-Risk Older Women by the CHARGE-AF Score

JACC. Clinical electrophysiology(2022)10.1016/j.jacep.2022.08.024

N/A

0.515DataRank · unranked

13 citations

Joseph C. Larson, Jenny Schoenberg, Alejandra Sepúlveda, Lesley Tinker, Matthew T. Wheeler +12 more

Molecular Transducers of Physical Activity Consortium (MoTrPAC): human studies design and protocol

Journal of Applied Physiology(2024)10.1152/japplphysiol.00102.2024

Top 40%

0.483DataRank

Top 40%21 citations

John M. Jakicic, Wendy M. Kohrt, Joseph A. Houmard, Michael E. Miller, Shlomit Radom‐Aizik +89 more

Mono- and Biallelic Protein-Truncating Variants in Alpha-Actinin 2 Cause Cardiomyopathy Through Distinct Mechanisms

Circulation Genomic and Precision Medicine(2021)10.1161/circgen.121.003419

N/A

0.477DataRank · unranked

23 citations

David Jimenez‐Morales, Han Zhu, Kinya Seo, David Amar, Chunli Zhao +13 more

Effectiveness of the Family Heart Talk Communication Tool in Improving Family Member Screening for Dilated Cardiomyopathy: Results of a Randomized Trial

Circulation(2023)10.1161/circulationaha.122.062507

N/A

0.469DataRank · unranked

12 citations

Elizabeth Jordan, Garrie J. Haas, Mark Hofmeyer, E. Kransdorf, Gregory A. Ewald +28 more

Beyond race: Recruitment of diverse participants in clinical genomics research for rare disease

Frontiers in Genetics(2022)10.3389/fgene.2022.949422

N/A

0.449DataRank · unranked

19 citations

Meghan C. Halley, Beatriz Anguiano, Liliana Fernández, Jonathan A. Bernstein, Matthew T. Wheeler +2 more

Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease

Genome Research(2025)10.1101/gr.279323.124

N/A

0.425DataRank · unranked

11 citations

Bohan Ni, Chloe Reuter, John E. Gorzynski, Sarah Fazal, Devon Bonner +13 more

GREGoR: accelerating genomics for rare diseases

Nature(2025)10.1038/s41586-025-09613-8

N/A

0.416DataRank · unranked

15 citations

Ben Heavner, Marsha M. Wheeler, Rachel A. Ungar, Jonathan LoTempio, Laurens Wiel +94 more

De novo variants in the non-coding spliceosomal snRNA gene RNU4-2 are a frequent cause of syndromic neurodevelopmental disorders

medRxiv(2024)10.1101/2024.04.07.24305438

N/A

0.360DataRank · unranked

10 citations

Ruebena Dawes, Hyung Chul Kim, Sarah L. Stenton, Susan Walker, Alicia Ljungdahl +92 more

Prevalence of frequent premature ventricular contractions and nonsustained ventricular tachycardia in older women screened for atrial fibrillation in the Women’s Health Initiative

Heart Rhythm(2024)10.1016/j.hrthm.2024.02.040

N/A

0.360DataRank · unranked

10 citations

Joseph C. Larson, Mark A. Hlatky, Fátima Rodríguez, Matthew T. Wheeler, Philip Greenland +14 more

Deconvoluting complex correlates of COVID-19 severity with a multi-omic pandemic tracking strategy

Nature Communications(2022)10.1038/s41467-022-32397-8

N/A

0.345DataRank · unranked

9 citations

Alexander G. Ioannidis, David Jimenez‐Morales, John E. Gorzynski, Hannah N. De Jong, Xiran Liu +65 more

Quality of Life and Exercise Capacity in Early Stage and Subclinical Hypertrophic Cardiomyopathy: A Secondary Analysis of the VANISH Trial

Circulation Heart Failure(2024)10.1161/circheartfailure.124.011663

N/A

0.328DataRank · unranked

7 citations

Danielle S. Burstein, Sharlene M. Day, Anna Axelsson Raja, Mark W. Russell, Kenneth Zahka +19 more

Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease

medRxiv(2024)10.1101/2024.03.22.24304565

N/A

0.321DataRank · unranked

5 citations

Bohan Ni, Chloe Reuter, John E. Gorzynski, Sarah Fazal, Devon Bonner +13 more

Biallelic variants in the non-coding RNA gene RNU4-2 cause a recessive neurodevelopmental syndrome with distinct white matter changes

medRxiv(2025)10.1101/2025.08.13.25333306

N/A

0.269DataRank · unranked

5 citations

Alexander J. M. Blakes, Yuyang Chen, Joachim De Jonghe, Javeria Raza Alvi, Florence Amblard +69 more

Beyond the exome: what's next in diagnostic testing for Mendelian conditions

arXiv (Cornell University)(2023)10.48550/arxiv.2301.07363

N/A

0.269DataRank · unranked

5 citations

Chloe Reuter, Shruti Marwaha, Medhat Mahmoud, Michael Duyzend, Hayk Barseghyan +19 more

Mono- and bi-allelic protein truncating variants in alpha-actinin 2 cause cardiomyopathy through distinct mechanisms

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.11.19.389064

N/A

0.241DataRank · unranked

4 citations

David Jimenez‐Morales, Han Zhu, Kinya Seo, David Amar, Chunli Zhao +12 more

Researcher views on returning results from multi-omics data to research participants: insights from The Molecular Transducers of Physical Activity Consortium (MoTrPAC) Study

BMC Medical Ethics(2025)10.1186/s12910-025-01174-9

N/A

0.208DataRank · unranked

3 citations

Caroline Stanclift, Chloe Reuter, Jennefer N. Carter, Kathleen Murphy, Maléne E. Lindholm +2 more

The current landscape of clinical exome and genome reanalysis in the U.S.

Journal of Genetic Counseling(2025)10.1002/jgc4.1968

N/A

0.208DataRank · unranked

3 citations

Jennefer N. Carter, Matthew T. Wheeler, Chloe Reuter, Michelle Frees

Wnt Signaling Interactor WTIP (Wilms Tumor Interacting Protein) Underlies Novel Mechanism for Cardiac Hypertrophy

Circulation Genomic and Precision Medicine(2022)10.1161/circgen.121.003563

N/A

0.208DataRank · unranked

3 citations

Frederick E. Dewey, Pablo Cordero, Andreas A. Werdich, Anna Kirillova, Yong Huang +23 more

A concurrent dual analysis of genomic data augments diagnoses: Experiences of 2 clinical sites in the Undiagnosed Diseases Network

Genetics in Medicine(2022)10.1016/j.gim.2022.12.001

N/A

0.170DataRank · unranked

1 citations

Queenie K.‐G. Tan, Chloe Reuter, Kelly Schoch, Jennefer N. Kohler, Devon Bonner +94 more

Prognostic Value of Compact Myocardial Thinning in Patients With Left Ventricular Noncompaction

The American Journal of Cardiology(2025)10.1016/j.amjcard.2025.04.018

N/A

0.165DataRank · unranked

2 citations

Martijn Tukker, Kadir Çalişkan, Alexander Hirsch, Ashish Manohar, Seung‐Pyo Lee +7 more

Transforming Growth Factor-β Analysis of the VANISH Trial Cohort

Circulation Heart Failure(2023)10.1161/circheartfailure.122.010314

N/A

0.104DataRank · unranked

1 citations

Mitra Mastali, Jennifer E. Van Eyk, E. John Orav, Christoffer Rasmus Vissing, Sharlene M. Day +27 more

The Accuracy of Smartphone Camera Apps to Detect Atrial Fibrillation: A Systematic Review, Meta-Analysis, Meta-Regression and Modeling Study

SSRN Electronic Journal(2019)10.2139/ssrn.3478118

N/A

0.104DataRank · unranked

1 citations

Sam Grigg, William Crawford, Marco Perez, Erik Ingelsson, Matthew T. Wheeler +5 more

Generation of two human iPSC lines with Exon 3 mutations in BCL2-Associated Athanogene 3 (BAG3) from dilated cardiomyopathy patients

Stem Cell Research(2023)10.1016/j.scr.2023.103019

N/A

0.104DataRank · unranked

1 citations

Yang Zhou, Audrey Li, Euan A. Ashley, Matthew T. Wheeler, Joseph C. Wu +1 more

Quantitative metrics of the LV trabeculated layer by cardiac CT and cardiac MRI in patients with suspected noncompaction cardiomyopathy

European Radiology(2023)10.1007/s00330-023-10526-1

N/A

0DataRank · unranked

6 citations

Davis M. Vigneault, Deborah Kwon, Kadir Çalişkan, Ricardo P.J. Budde, Alexander Hirsch +11 more

Arrhythmias including atrial fibrillation and congenital heart disease in Kleefstra syndrome: a possible epigenetic link

EP Europace(2023)10.1093/europace/euae003

N/A

0DataRank · unranked

7 citations

Tanja Zdolšek Draksler, Arianne Bouman, Joost Kummeling, Matthew T. Wheeler, Chloe Reuter +9 more

Screening for Dilated Cardiomyopathy in At-Risk First-Degree Relatives

Journal of the American College of Cardiology(2023)10.1016/j.jacc.2023.03.419

N/A

0DataRank · unranked

23 citations

Elizabeth Jordan, Daniel D. Kinnamon, Jinwen Cao, Garrie J. Haas, Mark Hofmeyer +26 more

Large-scale mutational analysis identifies UNC93B1 variants that drive TLR-mediated autoimmunity in mice and humans

The Journal of Experimental Medicine(2024)10.1084/jem.20232005

N/A

0DataRank · unranked

37 citations

Julian A. Yano, John Huizar, Leianna C. Slayden, Madeleine A. Weiss, Elizabeth A Turcotte +93 more

A defect in mitochondrial fatty acid synthesis impairs iron metabolism and causes elevated ceramide levels

Nature Metabolism(2023)10.1038/s42255-023-00873-0

N/A

0DataRank · unranked

27 citations

Oguz Kanca, Seul Kee Byeon, Paul C. Marcogliese, Zhongyuan Zuo, Rishi V. Shridharan +11 more

Generation of two induced pluripotent stem cell lines from dilated cardiomyopathy patients carrying TTN mutations

Erytheia: Revista de estudios bizantinos y neogriegos(2022)10.1016/j.scr.2022.102941

N/A

0DataRank · unranked

0 citations

Rui Zhao, Christina Alamana, Mengcheng Shen, Victoria N. Parikh, Matthew T. Wheeler +2 more

Perceived utility and disutility of genomic sequencing for pediatric patients: Perspectives from parents with diverse sociodemographic characteristics

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62619

N/A

0DataRank · unranked

41 citations

Jennifer L. Young, Liliana Fernández, Jennefer N. Kohler, Undiagnosed Diseases Network, Jonathan A. Bernstein +3 more

One-year real-world experience with mavacamten and its physiologic effects on obstructive hypertrophic cardiomyopathy

Frontiers in Cardiovascular Medicine(2024)10.3389/fcvm.2024.1429230

N/A

0DataRank · unranked

16 citations

Emily L. Chu, Emily Keamy-Minor, Ishan Paranjpe, Wilson L. Tang, Jack W. O’Sullivan +23 more

Impact of genome build on RNA-seq interpretation and diagnostics

The American Journal of Human Genetics(2024)10.1016/j.ajhg.2024.05.005

N/A

0DataRank · unranked

13 citations

Pagé C. Goddard, Tanner Jensen, Fabien Degalez, Kevin S. Smith, Christopher Jin +5 more

Intrinsic Atrial Myopathy Precedes Left Ventricular Dysfunction and Predicts Atrial Fibrillation in Lamin A/C Cardiomyopathy

Circulation Genomic and Precision Medicine(2022)10.1161/circgen.121.003480

N/A

0DataRank · unranked

27 citations

Kenzo Ichimura, Kermshlise Picard, Yumeko Kawano, Annika M. Dries, Francois Haddad +4 more

Generation of three induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying TNNI3 mutations

Stem Cell Research(2021)10.1016/j.scr.2021.102597

N/A

0DataRank · unranked

4 citations

Mengcheng Shen, Chelsea Lee, Yan Zha, Julio V. Guevara, Matthew T. Wheeler +2 more

Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy

Annals of Clinical and Translational Neurology(2024)10.1002/acn3.51983

N/A

0DataRank · unranked

3 citations

Payam Mohassel, Melanie O’Leary, Devon Bonner, Taila Hartley, Nicole Acquaye +19 more

Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation

Journal of Genetic Counseling(2021)10.1002/jgc4.1493

N/A

0DataRank · unranked

5 citations

Emily Glanton, Brenna Boyd, Catherine H. Sillari, Shruti Marwaha, Undiagnosed Diseases Network +2 more

Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay

Genetics in Medicine(2021)10.1038/s41436-020-01047-z

N/A

0DataRank · unranked

6 citations

Devon Bonner, K. C. Kent Lloyd, Ala Moshiri, Brandon Willis, Louise Lanoue +23 more

Impact of genome build on RNA-seq interpretation and diagnostics

medRxiv(2024)10.1101/2024.01.11.24301165

N/A

0DataRank · unranked

0 citations

Pagé C. Goddard, Tanner Jensen, Fabien Degalez, Kevin S. Smith, Christopher Jin +6 more

The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

Genetics in Medicine(2024)10.1016/j.gim.2024.101203

N/A

0DataRank · unranked

0 citations

Laura Findley, Weihong Ni, Janet S. Sinsheimer, Francesca Cole, Cecilia Esteves +94 more

Implementing Precision Medicine for Dilated Cardiomyopathy: Insights from The DCM Consortium

medRxiv(2024)10.1101/2024.11.22.24317816

N/A

0DataRank · unranked

0 citations

Hanyu Ni, P. Parker, Daniel D. Kinnamon, Anjali Owens, Brian D. Lowes +27 more

Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63956

N/A

0DataRank · unranked

0 citations

Allyn McConkie‐Rosell, Rachel Mahoney, Rebecca C. Spillmann, Kelly Schoch, Sirisak Chanprasert +21 more

Prognostic value of compact myocardial thinning in patients with left ventricular non-compaction

medRxiv(2024)10.1101/2024.12.19.24319385

N/A

0DataRank · unranked

0 citations

Martijn Tukker, Kadir Çalişkan, Alexander Hirsch, Ashish Manohar, Seung‐Pyo Lee +7 more

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

The American Journal of Human Genetics(2025)10.1016/j.ajhg.2025.08.018

N/A

0DataRank · unranked

17 citations

Rodrigo Mendez, Rachel A. Ungar, Devon Bonner, Dena R. Matalon, Gabrielle Lemire +19 more

Generation of three induced pluripotent stem cell lines from hypertrophic cardiomyopathy patients carrying MYH7 mutations

Stem Cell Research(2021)10.1016/j.scr.2021.102455

N/A

0DataRank · unranked

7 citations

James W.S. Jahng, Chelsea Lee, Yan Zha, Matthew T. Wheeler, Karim Sallam +2 more

Unlocking insights: Clinical associations from the largest 6-minute walk test collection via the my Heart Counts Cardiovascular Health Study, a fully digital smartphone platform

Progress in Cardiovascular Diseases(2025)10.1016/j.pcad.2025.01.010

N/A

0DataRank · unranked

9 citations

Narayan Schuetz, Anders Johnson, Alexander Tolas, Sriya Mantena, Jack W. O’Sullivan +12 more

“Nobody listened to us for years”: Parents' experiences of provider communication in the diagnostic odyssey

Molecular Genetics and Metabolism(2025)10.1016/j.ymgme.2025.109283

N/A

0DataRank · unranked

4 citations

Sevil Mahfoozi, Devon Bonner, Daphne Oluwaseun Martschenko, Alisha Giri, Charis Tang +4 more

Identification of candidate cardiomyopathy modifier genes through genome sequencing and RNA profiling

Frontiers in Cardiovascular Medicine(2025)10.3389/fcvm.2025.1546493

N/A

0DataRank · unranked

2 citations

Sarah Abramowitz, Daryl Waggott, Megan E. Grove, Frederick E. Dewey, Cuiping Pan +17 more

Variable clinical severity in TANGO2 deficiency: Case series and literature review

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62543

N/A

0DataRank · unranked

33 citations

Peter Leahy, Tina M. Cowan, Maura Ruzhnikov, Ryan Gates, Liliana Fernández +8 more

Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome

Journal of Allergy and Clinical Immunology(2021)10.1016/j.jaci.2021.02.044

N/A

0DataRank · unranked

33 citations

Diane B. Zastrow, Riley D. Metcalfe, Lisa Gartner, Freia Krause, Craig J. Morton +23 more

Cardiac CT fractal analysis of LV noncompaction and common cardiomyopathies

Journal of cardiovascular computed tomography(2025)10.1016/j.jcct.2025.08.004

N/A

0DataRank · unranked

1 citations

Ashley Wong, Edgard Castillo, Allison Gunderson, Gabriel Mistelbauer, S. Bagherzadeh +13 more

An assessment of the role of vinculin loss of function variants in inherited cardiomyopathy

Human Mutation(2020)10.1002/humu.24061

N/A

0DataRank · unranked

19 citations

Naif A. M. Almontashiri, Leslie G. Biesecker, Natalie Berger, Wendy K. Chung, John Garcia +17 more

Silencing of MYH7 ameliorates disease phenotypes in human iPSC-cardiomyocytes

Physiological Genomics(2020)10.1152/physiolgenomics.00021.2020

N/A

0DataRank · unranked

52 citations

Kathia Zaleta-Rivera, Alexandre J. S. Ribeiro, Andrew Chia Hao Chang, Ching Shang, Feng Lan +8 more

Transcriptome-wide outlier approach identifies individuals with minor spliceopathies

medRxiv(2025)10.1101/2025.01.02.24318941

N/A

0DataRank · unranked

10 citations

Rodrigo Mendez, Rachel A. Ungar, Devon Bonner, Dena R. Matalon, Gabrielle Lemire +20 more

Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorder

medRxiv(2025)10.1101/2025.08.26.25334179

N/A

0DataRank · unranked

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medRxiv(2025)10.1101/2025.04.18.25326061

N/A

0DataRank · unranked

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N/A

0DataRank · unranked

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Function(2025)10.1093/function/zqaf046

N/A

0DataRank · unranked

0 citations

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bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.01.13.523698

N/A

0DataRank · unranked

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N/A

0DataRank · unranked

0 citations

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bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.09.11.557227

N/A

0DataRank · unranked

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N/A

0DataRank · unranked

0 citations

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