Donna M. Muzny

Biochemistry, Genetics and Molecular Biology

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

113Author DataRank

Indexed papers

23in 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 23 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 111 papers — median percentile 95. 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 global reference for human genetic variation

Nature(2015)10.1038/nature15393

Top 1%

10.6DataRank

Top 1%20166 citations

Gonçalo R. Abecasis, Richard M. Durbin, Panagiotis Deloukas, Aravinda Chakravarti, Peter Donnelly +516 more

An integrated map of structural variation in 2,504 human genomes

Nature(2015)10.1038/nature15394

Top 2%

9.1DataRank

Top 2%2686 citations

Tobias Rausch, Marianne K. DeGorter, Robert E. Handsaker, Alexej Abyzov, Joanna M. M. Howson +75 more

Genomic data in the All of Us Research Program

Nature(2024)10.1038/s41586-023-06957-x

Top 2%

8.6DataRank

Top 2%772 citations

Alexander G. Bick, Ginger Metcalf, Kelsey Mayo, Lee Lichtenstein, Shimon Rura +91 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

Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel

Nature Communications(2014)10.1038/ncomms4934

Top 2%

8.3DataRank

Top 2%460 citations

Jonathan Marchini, Peter Donnelly, Gerton Lunter, Jonathan L. Marchini, Simon Myers +364 more

An Integrated TCGA Pan-Cancer Clinical Data Resource to Drive High-Quality Survival Outcome Analytics

Cell(2018)10.1016/j.cell.2018.02.052

Top 2%

8.1DataRank

Top 2%3980 citations

Katherine A. Hoadley, Laila M. Poisson, Alexander J. Lazar, Andrew D. Cherniack, Albert J. Kovatich +866 more

A high-resolution map of human evolutionary constraint using 29 mammals

Nature(2011)10.1038/nature10530

Top 2%

7.6DataRank

Top 2%1227 citations

Genome Institute at Washington University, Manuel Garber, Or Zuk, Alireza Heravi-Moussavi, Wouter Meuleman +49 more

Perspective on Oncogenic Processes at the End of the Beginning of Cancer Genomics

Cell(2018)10.1016/j.cell.2018.03.033

Top 3%

6.4DataRank

Top 3%447 citations

Matthew H. Bailey, Hoifung Poon, Vesteinn Thorsson, Antonio Colaprico, Andreas Bender +883 more

Pan-cancer analysis of whole genomes

Nature(2020)10.1038/s41586-020-1969-6

Top 3%

5.9DataRank

Top 3%3307 citations

Lauri A. Aaltonen, Federico Abascal, Adam Abeshouse, Hiroyuki Aburatani, David J. Adams +1244 more

Machine Learning Detects Pan-cancer Ras Pathway Activation in The Cancer Genome Atlas

Cell Reports(2018)10.1016/j.celrep.2018.03.046

N/A

5.5DataRank · unranked

186 citations

Francisco Sanchez-Vega, Konnor C. La, Joshua Armenia, Walid K. Chatila, Augustin Luna +869 more

Comparative validation of the D. melanogaster modENCODE transcriptome annotation

Genome Research(2014)10.1101/gr.159384.113

Top 5%

4.6DataRank

Top 5%192 citations

David Sturgill, Jiaxin Qu, Huaiyang Jiang, Soo Park, Nathan Boley +67 more

Analyses of non-coding somatic drivers in 2,658 cancer whole genomes

Nature(2020)10.1038/s41586-020-1965-x

Top 5%

4.6DataRank

Top 5%668 citations

Federico Abascal, Jeremiah A. Wala, Ofer Shapira, Grace Tiao, Henrik Hornshøj +1240 more

Primate phylogenomics uncovers multiple rapid radiations and ancient interspecific introgression

PLoS Biology(2020)10.1371/journal.pbio.3000954

N/A

2.9DataRank · unranked

120 citations

Bui Quang Minh, Robert Lanfear, Daniel Hughes, Shwetha C. Murali, R. Alan Harris +9 more

Proteogenomic Markers of Chemotherapy Resistance and Response in Triple-Negative Breast Cancer

Cancer Discovery(2022)10.1158/2159-8290.cd-22-0200

N/A

2.5DataRank · unranked

140 citations

Eric J. Jaehnig, Karsten Krug, Jonathan T. Lei, Erik J. Bergstrom, Beom-Jun Kim +34 more

Oligonucleotide capture sequencing of the SARS-CoV-2 genome and subgenomic fragments from COVID-19 individuals

PLoS ONE(2021)10.1371/journal.pone.0244468

Top 12%

1.8DataRank

Top 12%37 citations

Sara Javornik Cregeen, Richard Sucgang, Qingchang Meng, Xiang Qin, Vasanthi Avadhanula +16 more

Integrated gene analyses of de novo variants from 46,612 trios with autism and developmental disorders

Proceedings of the National Academy of Sciences(2022)10.1073/pnas.2203491119

Top 14%

1.5DataRank

Top 14%73 citations

Chang N. Kim, Trygve E. Bakken, Madelyn A. Gillentine, Barbara Henning, Yafei Mao +94 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

Integrated genomic analyses of ovarian carcinoma

Nature(2011)10.1038/nature10166

N/A

1.3DataRank · unranked

8094 citations

Debra Bell, Andrew Berchuck, Michael J. Birrer, Jeremy Chien, D. W. Cramer +268 more

Oncogenic Signaling Pathways in The Cancer Genome Atlas

Cell(2018)10.1016/j.cell.2018.03.035

N/A

1.2DataRank · unranked

3322 citations

Marco Mina, Joshua Armenia, Walid K. Chatila, Augustin Luna, Konnor C. La +891 more

Temporal development of the gut microbiome in early childhood from the TEDDY study

Nature(2018)10.1038/s41586-018-0617-x

N/A

1.1DataRank · unranked

2041 citations

Nadim J. Ajami, Jacqueline L. O’Brien, Diane S. Hutchinson, Daniel P. Smith, Matthew C. Wong +28 more

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Nature(2012)10.1038/nature11011

N/A

1.1DataRank · unranked

1794 citations

Yan Kou, Li Liu, Avi Ma’ayan, Kaitlin E. Samocha, Aniko Sabo +60 more

Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices

Nature Communications(2021)10.1038/s41467-021-22339-1

N/A

1.1DataRank · unranked

51 citations

Akhil Pampana, Sarah E. Graham, Sanni Ruotsalainen, James A. Perry, Paul S. de Vries +95 more

Exome Sequencing of Head and Neck Squamous Cell Carcinoma Reveals Inactivating Mutations in NOTCH1

Science(2011)10.1126/science.1206923

N/A

1.1DataRank · unranked

1689 citations

Mitchell J. Frederick, Curtis R. Pickering, Chetan Bettegowda, Kyle Chang, Ryan J. Li +29 more

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

The American Journal of Human Genetics(2015)10.1016/j.ajhg.2015.06.009

N/A

0.980DataRank · unranked

687 citations

Kati J. Buckingham, Shalini N. Jhangiani, Corinne Boehm, Nara Sobreira, Joshua D. Smith +46 more

Complete Khoisan and Bantu genomes from southern Africa

Nature(2010)10.1038/nature08795

N/A

0.932DataRank · unranked

500 citations

Webb Miller, Aakrosh Ratan, Lynn P. Tomsho, Belinda Giardine, Lindsay R. Kasson +44 more

Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion

Proceedings of the National Academy of Sciences(2011)10.1073/pnas.1110574108

N/A

0.819DataRank · unranked

234 citations

Angela G. Hadjipanayis, Lovelace J. Luquette, Tae-Min Kim, Brian Oliver, Jianhua Zhang +9 more

The Somatic Mosaicism across Human Tissues Network

Nature(2025)10.1038/s41586-025-09096-7

N/A

0.672DataRank · unranked

43 citations

Ji Won Oh, Yujin Angelina Choi, Nam Seop Lim, Boxun Zhao, Adam Voshall +365 more

Construction of a new chromosome-scale, long-read reference genome assembly for the Syrian hamster, Mesocricetus auratus

GigaScience(2022)10.1093/gigascience/giac039

Top 33%

0.606DataRank

Top 33%15 citations

Muthuswamy Raveendran, Dustin T. Lyfoung, Fritz J. Sedlazeck, Medhat Mahmoud, Trent M. Prall +9 more

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression

Genome Medicine(2024)10.1186/s13073-024-01411-7

N/A

0.474DataRank · unranked

17 citations

Jesse D. Bengtsson, Sameer S. Bajikar, Christopher M. Grochowski, Ming Yin Lun, Mira Gandhi +38 more

Population-scale variability at short tandem repeat loci reveals pathogenicity signature

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.01.06.631535

Top 41%

0.461DataRank

Top 41%11 citations

Isaac Xu, Sarah Fazal, Egor Dolzhenko, David Pellerin, Ben Weisburd +30 more

Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair

Scientific Data(2025)10.1038/s41597-025-05438-2

Top 44%

0.421DataRank

Top 44%10 citations

Vaidehi Patel, Nathan D. Olson, Hua‐Jun He, Anthony Schmitt, Kenneth D. Cole +80 more

Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.09.18.613544

Top 54%

0.314DataRank

Top 54%6 citations

Vaidehi Patel, Nathan D. Olson, Hua‐Jun He, Kenneth D. Cole, Alexander A. Gooden +78 more

Construction of a new chromosome-scale, long-read reference genome assembly for the Syrian hamster, Mesocricetus auratus

bioRxiv (Cold Spring Harbor Laboratory)(2021)10.1101/2021.07.05.451071

Top 60%

0.248DataRank

Top 60%3 citations

Muthuswamy Raveendran, Dustin T. Lyfoung, Fritz J. Sedlazeck, Medhat Mahmoud, Trent M. Prall +9 more

Proteogenomic analysis of the CALGB 40601 (Alliance) HER2+ breast cancer neoadjuvant trial reveals resistance biomarkers

Cell Reports Medicine(2025)10.1016/j.xcrm.2025.102154

N/A

0.212DataRank · unranked

3 citations

Aranzazu Fernandez-Martinez, Tanmayi D. Vashist, Matthew V. Holt, LaTerrica Williams, Jonathan T. Lei +26 more

Author Correction: Comparative and demographic analysis of orang-utan genomes

Nature(2022)10.1038/s41586-022-04799-7

Top 67%

0.174DataRank

Top 67%2 citations

LaDeana W. Hillier, Wesley C. Warren, Kim C. Worley, Lynne V. Nazareth, Donna M. Muzny +95 more

Author Correction: Cancer LncRNA Census reveals evidence for deep functional conservation of long noncoding RNAs in tumorigenesis

Communications Biology(2022)10.1038/s42003-022-03769-z

N/A

0.165DataRank · unranked

2 citations

Lars Feuerbach, Chen Hong, David Mas-Ponte, Randi Istrup Pedersen, PCAWG Drivers and Functional Interpretation Group +1255 more

Whole genome sequence analysis of pulmonary function and COPD in 44,287 multi-ancestry participants

Genome Biology(2026)10.1186/s13059-025-03921-y

Top 78%

0.104DataRank

Top 78%1 citations

Xiaowei Hu, Kangjin Kim, Sung Chun, Peter Orchard, Dandi Qiao +65 more

The genomic landscape of familial glioma

Science Advances(2023)10.1126/sciadv.ade2675

N/A

0DataRank · unranked

50 citations

Georgina Armstrong, Brittney Lozzi, Prashanth Vijayaraghavan, Sharon E. Plon, Terence C. Wong +85 more

Dominant negative variants in KIF5B cause osteogenesis imperfecta via down regulation of mTOR signaling

PLoS Genetics(2023)10.1371/journal.pgen.1011005

N/A

0DataRank · unranked

12 citations

Bo Zhang, Megan Washington, I-Wen Song, Lindsay C. Burrage, Vittoria Rossi +28 more

Inter and intra-host diversity of RSV in hematopoietic stem cell transplant adults with normal and delayed viral clearance

Virus Evolution(2023)10.1093/ve/vead086

N/A

0DataRank · unranked

11 citations

Daniel Paiva Agustinho, Vipin K. Menon, Roy F. Chemaly, Dimpy P. Shah, Xiang Qin +10 more

HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data

Nucleic Acids Research(2023)10.1093/nar/gkad1223

N/A

0DataRank · unranked

10 citations

Zain Dardas, Angad Jolly, Christopher M. Grochowski, Shalini N. Jhangiani, He Li +14 more

Exome‐wide assessment of isolated biliary atresia: A report from the National Birth Defects Prevention Study using child–parent trios and a case–control design to identify novel rare variants

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63185

N/A

0DataRank · unranked

6 citations

Aniko Sabo, Lynn M. Almli, Mary M. Jenkins, Wendy N. Nembhard, A. J. Agopian +28 more

Modeling nonsegmented negative-strand RNA virus (NNSV) transcription with ejective polymerase collisions and biased diffusion

Frontiers in Molecular Biosciences(2023)10.3389/fmolb.2022.1095193

N/A

0DataRank · unranked

2 citations

David Henke, Anubama Rajan, Donna M. Muzny, HarshaVardhan Doddapaneni, Vipin K. Menon +9 more

Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.04.24.538128

N/A

0DataRank · unranked

14 citations

Jonathan R. Belyeu, Xiao Chen, Luis F. Paulin, Ngoc Quynh Nguyen, E. Newman +21 more

Tryptophan Metabolites And Their Predicted Microbial Sources In Fecal Samples Of Healthy Individuals

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.12.20.572622

N/A

0DataRank · unranked

6 citations

Kristi L. Hoffman, Philip L. Lorenzi, Lin Tan, Joseph F. Petrosino, Richard A. Gibbs +9 more

Intra- and Inter-host Evolution of Human Norovirus in Healthy Adults

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.05.30.542907

N/A

0DataRank · unranked

5 citations

Sara J. Javornik Cregeen, Anil Surathu, Frederick H. Neill, Donna M. Muzny, HarshaVardhan Doddapaneni +11 more

Examining intra-host genetic variation of RSV by short read high-throughput sequencing

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.05.17.541198

N/A

0DataRank · unranked

0 citations

Felipe-Andrés Piedra, Vasanthi Avadhanula, HarshaVardhan Doddapaneni, Donna M. Muzny, Vipin K. Menon +8 more

Longitudinal host transcriptional responses to SARS-CoV-2 infection in adults with extremely high viral load

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.05.24.542181

N/A

0DataRank · unranked

0 citations

Chad J. Creighton, Laura Ferlic‐Stark, Richard Sucgang, Yiqun Zhang, Divya Nagaraj +12 more

Functional Genomics of Gastrointestinal Escherichia coli Isolated from Patients with Cancer and Diarrhea

bioRxiv (Cold Spring Harbor Laboratory)(2023)10.1101/2023.05.31.543115

N/A

0DataRank · unranked

0 citations

Justin R. Clark, Lily G. Carlin, Ellen E. Vaughan, Anubama Rajan, Adilene Olvera +22 more

Frequency and spectrum of clinically significant molecular alterations detected by tumor gene panel testing for pediatric cancer patients in the Texas KidsCanSeq study.

Journal of Clinical Oncology(2023)10.1200/jco.2023.41.16_suppl.10018

N/A

0DataRank · unranked

0 citations

Jacquelyn Reuther, Samara L. Potter, Ross Mangum, Carrie Mohila, John Hicks +15 more

Longitudinal host transcriptional responses to SARS-CoV-2 infection in adults with extremely high viral load

Research Square(2023)10.21203/rs.3.rs-2978272/v1

N/A

0DataRank · unranked

0 citations

Chad J. Creighton, Laura Ferlic‐Stark, Richard Sucgang, Yiqun Zhang, Divya Nagaraj +12 more

A common flanking variant is associated with enhanced stability of the FGF14-SCA27B repeat locus

Nature Genetics(2024)10.1038/s41588-024-01808-5

N/A

0DataRank · unranked

34 citations

Giulia Gobbo, Madeline Couse, Egor Dolzhenko, Sathiji Nageshwaran, Warren Cheung +95 more

Inverted triplications formed by iterative template switches generate structural variant diversity at genomic disorder loci

Cell Genomics(2024)10.1016/j.xgen.2024.100590

N/A

0DataRank · unranked

33 citations

Jesse D. Bengtsson, Haowei Du, Mira Gandhi, Ming Yin Lun, Michele G. Mehaffey +22 more

NODAL variants are associated with a continuum of laterality defects from simple D-transposition of the great arteries to heterotaxy

Genome Medicine(2024)10.1186/s13073-024-01312-9

N/A

0DataRank · unranked

15 citations

Jawid M. Fatih, Angad Jolly, Moez Dawood, Haowei Du, Christopher M. Grochowski +13 more

Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma

JAMA Network Open(2024)10.1001/jamanetworkopen.2024.4170

N/A

0DataRank · unranked

13 citations

He Li, Michael E. Scheurer, Dana L. Casey, Shannon Dugan‐Perez, Deborah A. Marquez-Do +19 more

Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk

BMC Medical Genomics(2024)10.1186/s12920-024-02024-0

N/A

0DataRank · unranked

10 citations

Jonathan R. Belyeu, Xiao Chen, Luis F. Paulin, Ngoc Quynh Nguyen, Emma Newman +21 more

An evaluation of genetic predisposition to congenital anomalies and pediatric cancer supports KAT6B as a novel neuroblastoma susceptibility gene

Genetics in Medicine Open(2024)10.1016/j.gimo.2024.101901

N/A

0DataRank · unranked

3 citations

Xi Yao, Saumya D. Sisoudiya, Pamela Mishra, He Li, Jeremy M. Schraw +16 more

Closing the gap: Solving complex medically relevant genes at scale

medRxiv(2024)10.1101/2024.03.14.24304179

N/A

0DataRank · unranked

11 citations

John Harting, Holly Corbitt, Xiao Chen, Shalini N. Jhangiani, HarshaVardhan Doddapaneni +19 more

Single cell long read whole genome sequencing reveals somatic transposon activity in human brain

medRxiv(2024)10.1101/2024.11.11.24317113

N/A

0DataRank · unranked

3 citations

Ester Kalef-Ezra, Dominic W. Horner, Xinchang Zheng, Nadine Holmes, Marco Toffoli +8 more

VizCNV: An integrated platform for concurrent phased BAF and CNV analysis with trio genome sequencing data

bioRxiv (Cold Spring Harbor Laboratory)(2024)10.1101/2024.10.27.620363

N/A

0DataRank · unranked

2 citations

Ming Yin Lun, Lidiia Gagarina, Michele G. Mehaffey, James Paul Hwang, Shalini N. Jhangiani +11 more

Mapping and characterization of structural variation in 17,795 human genomes

UNC Libraries(2024)10.17615/bjv3-ys88

Top 100%

0DataRank

Top 100%0 citations

S.S. Rich, Elizabeth L. Appelbaum, Ryan M. Layer, Subra Kugathasan, Scott M. Damrauer +95 more

Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program

UNC Libraries(2024)10.17615/a7t8-mf18

N/A

0DataRank · unranked

0 citations

Stephen S. Rich, Xin Hu, B.E Cade, TOPMed Lung Working Group, Shannon Dugan‐Perez +47 more

Identification of allele-specific KIV-2 repeats and impact on Lp(a) measurements for cardiovascular disease risk

UNC Libraries(2024)10.17615/0jmh-f540

N/A

0DataRank · unranked

0 citations

Michael A. Eberle, Xiao Chen, Richard A. Gibbs, Emma Newman, Massimiliano Rossi +21 more

Germline Genetic Testing and Survival Outcomes Among Children With Rhabdomyosarcoma

UNC Libraries(2024)10.17615/m7sp-3e70

N/A

0DataRank · unranked

0 citations

Shannon Dugan‐Perez, Michael E. Scheurer, Sharon E. Plon, Brian D. Crompton, Philip J. Lupo +19 more

GREGoR: accelerating genomics for rare diseases

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

N/A

0DataRank · unranked

15 citations

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

Single cell long read whole genome sequencing reveals somatic transposon activity in human brain

Communications Biology(2025)10.1038/s42003-025-08805-2

N/A

0DataRank · unranked

4 citations

Ester Kalef-Ezra, Dominic W. Horner, Xinchang Zheng, Nadine Holmes, Marco Toffoli +10 more

The SHR/Akr Y chromosome reveals repeated turnover of the rat pseudoautosomal region

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.05.28.656580

N/A

0DataRank · unranked

1 citations

Helen Skaletsky, Jennifer F. Hughes, Laura G. Brown, Tatyana Pyntikova, Ting-Jan Cho +15 more

Longitudinal host transcriptional responses to SARS-CoV-2 infection in adults with extremely high viral load

PLoS ONE(2025)10.1371/journal.pone.0317033

N/A

0DataRank · unranked

0 citations

Chad J. Creighton, Laura Ferlic‐Stark, Divya Nagaraj, Yiqun Zhang, Richard Sucgang +12 more

Evolutionary dynamics of Respiratory Syncytial Virus in pre-pandemic, pandemic, and post-pandemic periods in Houston, Texas, USA

bioRxiv (Cold Spring Harbor Laboratory)(2025)10.1101/2025.08.06.668939

N/A

0DataRank · unranked

0 citations

Daniel Paiva Agustinho, Leila C. Sahni, Anil Surathu, David Henke, HarshaVardhan Doddapaneni +12 more

Constellation illuminates rare disease genetics

medRxiv(2025)10.1101/2025.10.15.25337675

N/A

0DataRank · unranked

0 citations

Qing Zhang, Xinchang Zheng, Shalini N. Jhangiani, Jacqueline Weir, Jesse Farek +15 more

Enriching for Answers in Rare Diseases

medRxiv(2025)10.1101/2025.10.21.25338483

N/A

0DataRank · unranked

0 citations

Adam C. English, Luis F. Paulin, Shalini N. Jhangiani, George Weissenberger, Vanessa Vee +7 more

Author Correction: Combined burden and functional impact tests for cancer driver discovery using DriverPower

Nature Communications(2022)10.1038/s41467-022-32343-8

N/A

0DataRank · unranked

0 citations

PCAWG Drivers and Functional Interpretation Working Group, Federico Abascal, Samirkumar B. Amin, Pratiti Bandopadhayay, Rameen Beroukhim +1242 more

High-depth African genomes inform human migration and health

Nature(2020)10.1038/s41586-020-2859-7

N/A

0DataRank · unranked

370 citations

Shaun Aron, Laura R. Botigué, Dhriti Sengupta, Gerrit Botha, Taoufik Bensellak +62 more

Mapping and characterization of structural variation in 17,795 human genomes

Nature(2020)10.1038/s41586-020-2371-0

N/A

0DataRank · unranked

364 citations

David E. Larson, Allison A. Regier, Colby Chiang, Indraniel Das, Krishna Kanchi +13 more

Genetics of schizophrenia in the South African Xhosa

Science(2020)10.1126/science.aay8833

N/A

0DataRank · unranked

125 citations

Dan J. Stein, Ezra Susser, Goodman Sibeko, Adele Pretorius, Tom Walsh +23 more

Germline Cancer Predisposition Variants in Pediatric Rhabdomyosarcoma: A Report From the Children’s Oncology Group

JNCI Journal of the National Cancer Institute(2020)10.1093/jnci/djaa204

N/A

0DataRank · unranked

109 citations

Saumya D. Sisoudiya, Bailey A. Martin‐Giacalone, Michael M. Khayat, Shannon Dugan‐Perez, Deborah A. Marquez-Do +16 more

Molecular Features of Cancers Exhibiting Exceptional Responses to Treatment

Cancer Cell(2020)10.1016/j.ccell.2020.10.015

N/A

0DataRank · unranked

104 citations

Naoko Takebe, Toshinori Hinoue, Katherine A. Hoadley, Maria Cardenas, Alina M. Hamilton +41 more

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

Science(2020)10.1126/science.aay5663

N/A

0DataRank · unranked

100 citations

William A. Comrie, M. Cecilia Poli, Morgan N Similuk, Andrew J. Oler, Aiman Faruqi +34 more

CNVs cause autosomal recessive genetic diseases with or without involvement of SNV/indels

Genetics in Medicine(2020)10.1038/s41436-020-0864-8

N/A

0DataRank · unranked

71 citations

Lei Wang, Pengfei Liu, Chad A. Shaw, Hongzheng Dai, Lance Cooper +25 more

Human NK cell deficiency as a result of biallelic mutations in MCM10

Journal of Clinical Investigation(2020)10.1172/jci134966

N/A

0DataRank · unranked

71 citations

Silke Paust, Matilde Immacolata Conte, Ryan M. Baxley, Megan Schmit, Sagar L. Patil +23 more

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

Genetics in Medicine(2020)10.1038/s41436-020-0897-z

N/A

0DataRank · unranked

63 citations

Qian Liu, Justyna A. Karolak, Christopher M. Grochowski, Nina Guanyi Xie, Lucia R. Wu +16 more

PCM1 is necessary for focal ciliary integrity and is a candidate for severe schizophrenia

Nature Communications(2020)10.1038/s41467-020-19637-5

N/A

0DataRank · unranked

34 citations

Melanie E. Garrett, Maria Kousi, Ramona M. Rodriguiz, Sungjin Moon, Yushi Bai +14 more

Germline mutation in POLR2A: a heterogeneous, multi-systemic developmental disorder characterized by transcriptional dysregulation

Human Genetics and Genomics Advances(2020)10.1016/j.xhgg.2020.100014

N/A

0DataRank · unranked

22 citations

Payal Arora, Michael M. Khayat, Leah J. Smith, Andrea M. Lewis, Linda Rossetti +19 more

Disease-associated CTNNBL1 mutation impairs somatic hypermutation by decreasing nuclear AID

Journal of Clinical Investigation(2020)10.1172/jci131297

N/A

0DataRank · unranked

23 citations

Lisa R. Forbes, Elif Çakan, Andrea Vega-Loza, Valentyna Kostiuk, Ravi K. Dinesh +16 more

Phenotypic expansion in KIF1A ‐related dominant disorders: A description of novel variants and review of published cases

Human Mutation(2020)10.1002/humu.24118

N/A

0DataRank · unranked

18 citations

Adam Hansen, Michael M. Khayat, Varuna Chander, Christopher M. Grochowski, Yunyun Jiang +21 more

Loss of the Polyketide Synthase StlB Results in Stalk Cell Overproduction in Polysphondylium violaceum

Genome Biology and Evolution(2020)10.1093/gbe/evaa079

N/A

0DataRank · unranked

17 citations

Yoshinori Kawabe, Koryu Kin, Richard A. Gibbs, Adam Kuspa, Donna M. Muzny +6 more

Community‐based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disability

Molecular Genetics & Genomic Medicine(2020)10.1002/mgg3.1439

N/A

0DataRank · unranked

10 citations

David R. Murdock, Shannon Dugan, Qingchang Meng, Marie‐Claude Gingras, Jianhong Hu +3 more

Next Generation Sequencing of 134 Children with Autism Spectrum Disorder and Regression

Genes(2020)10.3390/genes11080853

N/A

0DataRank · unranked

28 citations

Chun-An Chun, Н. Н. Заваденко, Natalia L. Pechatnikova, Oxana Yu. Naumova, HarshaVardhan Doddapaneni +5 more

Sequence analysis in Bos taurus reveals pervasiveness of X–Y arms races in mammalian lineages

Genome Research(2020)10.1101/gr.269902.120

N/A

0DataRank · unranked

50 citations

Helen Skaletsky, Tatyana Pyntikova, Natalia Koutseva, Terje Raudsepp, Laura G. Brown +19 more

Paternal age in rhesus macaques is positively associated with germline mutation accumulation but not with measures of offspring sociability

Genome Research(2020)10.1101/gr.255174.119

N/A

0DataRank · unranked

79 citations

Gregg W.C. Thomas, Muthuswamy Raveendran, R. Alan Harris, HarshaVardhan Doddapaneni, Donna M. Muzny +5 more

COPB2 haploinsufficiency causes a coatopathy with osteoporosis and developmental delay

bioRxiv (Cold Spring Harbor Laboratory)(2020)10.1101/2020.09.14.297234

N/A

0DataRank · unranked

1 citations

Lindsay C. Burrage, Aurélie Clément, Bernardo Blanco‐Sánchez, Rossella Venditti, Mahim Jain +49 more

Rare Exome Sequence Variants in CLCN6 Reduce Blood Pressure Levels and Hypertension RiskCLINICAL PERSPECTIVE

UNC Libraries(2020)10.17615/ttpw-sn86

N/A

0DataRank · unranked

0 citations

Alex P. Reiner, Donna M. Muzny, Shih‐Jen Hwang, Christopher Newton‐Cheh, Leslie J. Raffel +30 more

Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis

UNC Libraries(2020)10.17615/vn1s-8a35

N/A

0DataRank · unranked

0 citations

Frank J.A. van Rooij, Raha Pazoki, Albert Hofman, Nathan Pankratz, Richard A. Gibbs +51 more

The Somatic Genomic Landscape of Chromophobe Renal Cell Carcinoma

UNC Libraries(2020)10.17615/bd0j-6b91

N/A

0DataRank · unranked

0 citations

Kristen M. Leraas, Angela B. Smith, Michael J. Seiler, A. B. Clarke, Mark A. Jensen +95 more

Sequencing of 2 Subclinical Atherosclerosis Candidate Regions in 3669 Individuals: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study

UNC Libraries(2020)10.17615/wjqf-6y28

N/A

0DataRank · unranked

0 citations

Kari E. North, Donna M. Muzny, Xiaoming Liu, Joshua C. Bis, Eric Boerwinkle +10 more

ADAM19 and HTR4 Variants and Pulmonary Function: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium Targeted Sequencing Study

UNC Libraries(2020)10.17615/fn7w-zr73

N/A

0DataRank · unranked

0 citations

Yanhua Zhou, Nora Franceschini, Donna M. Muzny, Bruce M. Psaty, John S. House +13 more

Exome sequencing reveals novel genetic loci influencing obesity-related traits in Hispanic children: Novel Obesity Loci in Hispanic Children

UNC Libraries(2020)10.17615/eyfh-rb17

N/A

0DataRank · unranked

0 citations

Nancy F. Butte, Aniko Sabo, Donna M. Muzny, Richard A. Gibbs, Shelley A. Cole +6 more

High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.009

N/A

0DataRank · unranked

102 citations

Sedat Işıkay, Alper Gezdirici, Elif Yılmaz Güleç, Jaya Punetha, Jawid M. Fatih +44 more

Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders

Journal of Allergy and Clinical Immunology(2021)10.1016/j.jaci.2021.07.015

N/A

0DataRank · unranked

24 citations

Olive S. Eckstein, Nitya Gulati, Erin C. Peckham‐Gregory, Nmazuo Ozuah, Joseph Lubega +26 more

COPB2 loss of function causes a coatopathy with osteoporosis and developmental delay

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.08.002

N/A

0DataRank · unranked

41 citations

Lindsay C. Burrage, Rossella Venditti, Aurélie Clément, Bernardo Blanco‐Sánchez, Mahim Jain +48 more

Cross-oncopanel study reveals high sensitivity and accuracy with overall analytical performance depending on genomic regions

Genome biology(2021)10.1186/s13059-021-02315-0

N/A

0DataRank · unranked

40 citations

Dan Li, Rebecca Kusko, Natalia Novoradovskaya, Yifan Zhang, Shangzi Wang +95 more

Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability

Human Genetics and Genomics Advances(2021)10.1016/j.xhgg.2021.100074

N/A

0DataRank · unranked

40 citations

Angad Jolly, Brian J. Shayota, Juliana F. Mazzeu, Haowei Du, Moez Dawood +45 more

Exome sequencing in children with clinically suspected maturity‐onset diabetes of the young

Pediatric Diabetes(2021)10.1111/pedi.13257

N/A

0DataRank · unranked

18 citations

Claudia Soler‐Alfonso, Katie Chan, Michael M. Khayat, Shalini N. Jhangiani, Qingchang Meng +9 more

Neptune: an environment for the delivery of genomic medicine

Genetics in Medicine(2021)10.1038/s41436-021-01230-w

N/A

0DataRank · unranked

8 citations

Victoria Yi, David R. Murdock, Sara E. Kalla, Tsung-Jung Wu, Aniko Sabo +93 more

Implementation of preemptive DNA sequence–based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study

Genetics in Medicine(2022)10.1016/j.gim.2022.01.022

N/A

0DataRank · unranked

69 citations

Steven E. Scherer, Suzette J. Bielinski, Donna M. Muzny, Leila A. Jones, John L. Black +95 more

Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program

Genome Medicine(2022)10.1186/s13073-022-01031-z

N/A

0DataRank · unranked

63 citations

Donna M. Muzny, Joshua D. Smith, Kimberly Walker, Cynthia L. Neben, Christina M. Lockwood +16 more

Multiple Respiratory Syncytial Virus (RSV) Strains Infecting HEp-2 and A549 Cells Reveal Cell Line-Dependent Differences in Resistance to RSV Infection

Journal of Virology(2022)10.1128/jvi.01904-21

N/A

0DataRank · unranked

50 citations

Felipe-Andrés Piedra, Letisha Aideyan, Trevor McBride, Matthew J. Robertson, Hannah L. Johnson +14 more

Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program

The American Journal of Human Genetics(2022)10.1016/j.ajhg.2022.03.007

N/A

0DataRank · unranked

25 citations

Dandi Qiao, Wonji Kim, Matthew Moll, Pallavi Balte, Leslie A. Lange +46 more

Whole-exome sequencing of 14 389 individuals from the ESP and CHARGE consortia identifies novel rare variation associated with hemostatic factors

Human Molecular Genetics(2022)10.1093/hmg/ddac100

N/A

0DataRank · unranked

17 citations

Peng Wei, Jennifer A. Brody, Ming‐Huei Chen, Paul S. de Vries, Jennifer E. Huffman +26 more

Donna M. Muzny

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