Donna M. Muzny

160.5k citations

163 papers · 8.9k indexed · 3 hit papers · h-index 49

Co-authors: Richard A. Gibbs C. Thomas Caskey Xiangwei Wu HarshaVardhan Doddapaneni Cheng Chi Lee Ginger Metcalf James R. Lupski Joseph F. Petrosino
Topics: Genomics and Rare Diseases (26 papers)Genomics and Phylogenetic Studies (20 papers)Cancer Genomics and Diagnostics (18 papers)
Cited by: Genetics Molecular Biology Cancer Research
Journals: Nature Science Cell
Partner nations: United States Türkiye Poland

In The Last Decade

Donna M. Muzny

159 papers receiving 8.8k citations

Hit Papers

align trajectories

What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if it has ≥500 total citations, achieves ≥1.5× the top-1% citation threshold for papers in the same subfield and year (this is the minimum needed to enter the top 1%, not the average within it), or reaches the top citation threshold in at least one of its specific research topics.

The gut mycobiome of the Human Microbiome Project healthy cohort

2017 664 citations Ginger Metcalf, Donna M. Muzny et al. profile →
Mind the Gap: Upgrading Genomes with Pacific Biosciences RS Long-Read Sequencing Technology

2012 582 citations Yi Han, Donna M. Muzny et al. profile →
Two independent mutational events in the loss of urate oxidase during hominoid evolution

1992 408 citations Donna M. Muzny et al. profile →

Peers

Countries citing papers authored by Donna M. Muzny

Since Specialization

Citations

This map shows the geographic impact of Donna M. Muzny's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Donna M. Muzny with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Donna M. Muzny more than expected).

Fields of papers citing papers by Donna M. Muzny

Since Specialization

Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Donna M. Muzny. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Donna M. Muzny. The network helps show where Donna M. Muzny may publish in the future.

Co-authorship network of co-authors of Donna M. Muzny

This figure shows the co-authorship network connecting the top 25 collaborators of Donna M. Muzny. A scholar is included among the top collaborators of Donna M. Muzny based on the total number of citations received by their joint publications. Widths of edges represent the number of papers authors have co-authored together. Node borders signify the number of papers an author published with Donna M. Muzny. Donna M. Muzny is excluded from the visualization to improve readability, since they are connected to all nodes in the network.

All Works

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20 of 20 papers shown

#	Work	Indexed citations
1	NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy 2024 ·Genome Medicine ·(unknown),Jawid M. Fatih,Angad Jolly,Moez Dawood,Haowei Du,Christopher M. Grochowski,Edward G. Jones,Shalini N. Jhangiani,Xander H.T. Wehrens,Pengfei Liu,Weimin Bi,Eric Boerwinkle,Jennifer E. Posey,Donna M. Muzny,Richard A. Gibbs,James R. Lupski,Zeynep Coban‐Akdemir,Shaine A. Morris	3
2	Construction of a new chromosome-scale, long-read reference genome assembly for the Syrian hamster, Mesocricetus auratus 2022 ·GigaScience ·R. Alan Harris,Muthuswamy Raveendran,(unknown),Fritz J. Sedlazeck,Medhat Mahmoud,(unknown),Julie A. Karl,HarshaVardhan Doddapaneni,Qingchang Meng,Yi Han,Donna M. Muzny,Roger W. Wiseman,David H. O’Connor,Jeffrey Rogers	8
3	Comparative genomic analysis of sifakas ( Propithecus ) reveals selection for folivory and high heterozygosity despite endangered status 2021 ·Science Advances ·(unknown),Timothy H. Webster,Richard R. Lawler,Brenda J. Bradley,Lydia K. Greene,(unknown),Joelisoa Ratsirarson,R. Alan Harris,Yue Liu,Shwetha C. Murali,Muthuswamy Raveendran,Daniel Hughes,Donna M. Muzny,Anne D. Yoder,Kim C. Worley,Jeffrey Rogers	16
4	Exome sequencing in children with clinically suspected maturity‐onset diabetes of the young 2021 ·Pediatric Diabetes ·Mustafa Tosur,Claudia Soler‐Alfonso,(unknown),Michael M. Khayat,Shalini N. Jhangiani,Qingchang Meng,(unknown),Donna M. Muzny,Richard A. Gibbs,David R. Murdock,Jennifer E. Posey,Ashok Balasubramanyam,María J. Redondo,Aniko Sabo	5
5	Durable Response to Larotrectinib in a Child With Histologic Diagnosis of Recurrent Disseminated Ependymoma Discovered to Harbor an NTRK2 Fusion: The Impact of Integrated Genomic Profiling 2021 ·JCO Precision Oncology ·(unknown),Jacquelyn Reuther,Kelsey C. Bertrand,Raghu Chandramohan,(unknown),Arnold C. Paulino,Donna M. Muzny,Jianhong Hu,Richard A. Gibbs,Daniel J. Curry,Fatema Malbari,Murali Chintagumpala,Adekunle M. Adesina,Kevin E. Fisher,Stephen C. Mack,Sharon E. Plon,Angshumoy Roy,D. Williams Parsons,Frank Y. Lin	4
6	Mapping and characterization of structural variation in 17,795 human genomes 2020 ·Nature ·Haley Abel,David E. Larson,Allison Regier,Colby Chiang,Indraniel Das,Krishna Kanchi,Ryan M. Layer,Benjamin M. Neale,William Salerno,Catherine Reeves,Steven Buyske,Tara C. Matise,Donna M. Muzny,Michael C. Zody,Eric S. Lander,Susan K. Dutcher,Nathan O. Stitziel,Ira M. Hall	148
7	Novel pathogenic genomic variants leading to autosomal dominant and recessive Robinow syndrome 2020 ·American Journal of Medical Genetics Part A ·Chaofan Zhang,Juliana F. Mazzeu,Jesper Eisfeldt,Christopher M. Grochowski,Janson J. White,Zeynep Coban‐Akdemir,Shalini N. Jhangiani,Donna M. Muzny,Richard A. Gibbs,Anna Lindstrand,James R. Lupski,V. Reid Sutton,Claudia M.B. Carvalho	14
8	HEARTCARE: ADVANCING PRECISION MEDICINE THROUGH COMPREHENSIVE CARDIOVASCULAR GENETIC TESTING 2020 ·Journal of the American College of Cardiology ·Ginger Metcalf,David R. Murdock,Eric Venner,Mullai Murugan,Donna M. Muzny,Stacey Pereira,Eric Boerwinkle,Christie M. Ballantyne,Richard A. Gibbs	1
9	MHC genotyping from rhesus macaque exome sequences 2019 ·Immunogenetics ·(unknown),Roger W. Wiseman,Julie A. Karl,David Baker,(unknown),Robert James Maddox,Muthuswamy Raveendran,R. Alan Harris,Jianhong Hu,Donna M. Muzny,Jeffrey Rogers,David H. O’Connor	10
10	Genetic Burden Contributing to Extremely Low or High Bone Mineral Density in a Senior Male Population From the Osteoporotic Fractures in Men Study (MrOS) 2019 ·JBMR Plus ·Shan Chen,Mahim Jain,Shalini N. Jhangiani,Zeynep Coban‐Akdemir,Philippe M. Campeau,Robert F. Klein,Carrie M. Nielson,Hongzheng Dai,Donna M. Muzny,Eric Boerwinkle,Richard A. Gibbs,Eric Orwoll,James R. Lupski,Jennifer E. Posey,Brendan Lee	1
11	Genomic Profiling of Pediatric Acute Myeloid Leukemia Reveals a Changing Mutational Landscape from Disease Diagnosis to Relapse 2016 ·Cancer Research ·Jason E. Farrar,(unknown),Rhonda E. Ries,Daniel Wai,Oliver Hampton,Lisa R. Treviño,Todd A. Alonzo,Jaime M. Guidry Auvil,Tanja M. Davidsen,Patee Gesuwan,Leandro C. Hermida,Donna M. Muzny,Ninad Dewal,Navin Rustagi,Lora Lewis,Alan S. Gamis,David A. Wheeler,Malcolm A. Smith,Daniela S. Gerhard,Soheil Meshinchi	104
12	Hutterite‐type cataract maps to chromosome 6p21.32‐p21.31, cosegregates with a homozygous mutation in LEMD2, and is associated with sudden cardiac death 2015 ·Molecular Genetics & Genomic Medicine ·Philip M. Boone,Bo Yuan,Shen Gu,Zhiwei Ma,Tomasz Gambin,Claudia Gonzaga‐Jauregui,Mahim Jain,(unknown),Janson J. White,Shalini N. Jhangiani,Kimberly Walker,Qiaoyan Wang,Donna M. Muzny,Richard A. Gibbs,J. Fielding Hejtmancik,James R. Lupski,Jennifer E. Posey,Richard A. Lewis	25
13	FBN1 contributing to familial congenital diaphragmatic hernia 2015 ·American Journal of Medical Genetics Part A ·T. Beck,Philippe M. Campeau,Shalini N. Jhangiani,Tomasz Gambin,Alexander Li,Reem Abo‐Zahrah,Valerie K. Jordan,Andrés Hernández,Wojciech Wiszniewski,Donna M. Muzny,Richard A. Gibbs,Eric Boerwinkle,James R. Lupski,Brendan Lee,William Reardon,Daryl A. Scott	23
14	Whole-Exome Sequencing Identifies Homozygous GPR161 Mutation in a Family with Pituitary Stalk Interruption Syndrome 2014 ·The Journal of Clinical Endocrinology & Metabolism ·Ender Karaca,Ramazan Büyükkaya,Davut Pehli̇van,Wu‐Lin Charng,Kürşat Oğuz Yaykaşlı,Yavuz Bayram,Tomasz Gambin,Marjorie Withers,Mehmed M. Atik,İlknur Arslanoğlu,Semih Bolu,Serkan Erdin,(unknown),(unknown),Shalini N. Jhangiani,Donna M. Muzny,Richard A. Gibbs,James R. Lupski	60
15	Whole-genome sequence–based analysis of high-density lipoprotein cholesterol 2013 ·Nature Genetics ·Alexander Li,Xiaoming Liu,Alanna C. Morrison,(unknown),Kenneth Rice,Arend Voorman,(unknown),(unknown),(unknown),(unknown),(unknown),Jin Yu,Richard A. Gibbs,Fuli Yu,Donna M. Muzny,(unknown),Chengsong Zhu,Joshua C. Bis,(unknown),Gerardo Heiss,(unknown),(unknown)	91
16	Whole‐exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria 2011 ·American Journal of Medical Genetics Part A ·David R. Murdock,Gary Clark,Matthew N. Bainbridge,Irene Newsham,Yuanqing Wu,Donna M. Muzny,Sau Wai Cheung,Richard A. Gibbs,Melissa B. Ramocki	40
17	Pulmonary alveolar proteinosis caused by deletion of the GM-CSFRα gene in the X chromosome pseudoautosomal region 1 2008 ·The Journal of Experimental Medicine ·Margarita Martinez-Moczygemba,Minh L. Doan,Okan Elidemir,Leland L. Fan,Sau Wai Cheung,Jonathan T. Lei,(unknown),(unknown),Lora Lewis,Yiming Zhu,Donna M. Muzny,Richard A. Gibbs,David P. Huston	120
18	Mouse let-7 miRNA populations exhibit RNA editing that is constrained in the 5′-seed/ cleavage/anchor regions and stabilize predicted mmu-let-7a:mRNA duplexes 2008 ·Genome Research ·Jeffrey G. Reid,Ankur K. Nagaraja,Francis C. Lynn,Rafal Drabek,Donna M. Muzny,Chad A. Shaw,(unknown),A.O. Naghavi,(unknown),Huifeng Zhu,Jayantha B. Tennakoon,Gemunu H. Gunaratne,David B. Corry,Jonathan Miller,Michael T. McManus,Michael S. German,Richard A. Gibbs,Martin M. Matzuk,Preethi H. Gunaratne	73
19	Large-scale sequencing in human chromosome 12p13: experimental and computational gene structure determination. 1997 ·Genome Research ·M. Ali Ansari‐Lari,Yu Shen,Donna M. Muzny,(unknown),Richard A. Gibbs	35
20	130 kb of DNA sequence reveals two new genes and a regional duplication distal to the human iduronate-2-sulfate sulfatase locus. 1995 ·Genome Research ·Kirsten M. Timms,Fei Lü,Ying H. Shen,(unknown),Donna M. Muzny,(unknown),David L. Nelson,Richard A. Gibbs	56

About Donna M. Muzny

Donna M. Muzny is a scholar working on Genetics, Molecular Biology and Cancer Research, having authored 163 papers that have together received 8.9k indexed citations. Recurring topics across this work include Genomics and Rare Diseases (26 papers), Genomics and Phylogenetic Studies (20 papers) and Cancer Genomics and Diagnostics (18 papers). The work is most often cited by research in Genetics (2.7k citations), Molecular Biology (5.1k citations) and Cancer Research (987 citations). Donna M. Muzny has collaborated with scholars based in United States, Türkiye and Poland. Frequent co-authors include Richard A. Gibbs, C. Thomas Caskey, Xiangwei Wu, HarshaVardhan Doddapaneni, Cheng Chi Lee, Ginger Metcalf, James R. Lupski, Joseph F. Petrosino, Jeffrey G. Reid and David A. Wheeler. Their work appears in journals such as Nature, Science and Cell.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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