David R. Murdock

The University of Texas Health Science Center

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 4%percentile

0.738Author DataRank

Indexed papers

1in 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 1 indexed paper 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.

Harmonizing variant classification for return of results in the All of Us Research Program

Human Mutation(2021)10.1002/humu.24317

Top 27%

0.738DataRank

Top 27%17 citations

Christina Austin‐Tse, Serra Kim, Matthew S. Lebo, Annette Leon, David R. Murdock +8 more

Papers

Driven by 29 papers — median percentile 73. Top paper: “SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia”.

SPTSSA variants alter sphingolipid synthesis and cause a complex hereditary spastic paraplegia

Brain(2023)10.1093/brain/awac460

N/A

0.992DataRank · unranked

35 citations

Hagar Mor Shaked, Kenneth Gable, Sita D. Gupta, Xueyang Pan, Niranjanakumari Somashekarappa +93 more

Harmonizing variant classification for return of results in the All of Us Research Program

Human Mutation(2021)10.1002/humu.24317

Top 27%

0.738DataRank

Top 27%17 citations

Christina Austin‐Tse, Serra Kim, Matthew S. Lebo, Annette Leon, David R. Murdock +8 more

An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids

Genetics in Medicine(2020)10.1038/s41436-020-01027-3

N/A

0DataRank · unranked

49 citations

Kirsty McWalter, Heleen te Brinke, Lodewijk IJlst, Petra M. Mooijer, Jos P.N. Ruiter +95 more

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.11.003

N/A

0DataRank · unranked

48 citations

Tahsin Stefan Barakat, Brittany C. Michel, Nazar Mashtalir, Jennifer B. Phillips, Alfredo M. Valencia +48 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

De Novo Variants in CDK19 Are Associated with a Syndrome Involving Intellectual Disability and Epileptic Encephalopathy

The American Journal of Human Genetics(2020)10.1016/j.ajhg.2020.04.001

N/A

0DataRank · unranked

45 citations

Xiao Mao, Hua Wang, Ye-Jin Park, Paul C. Marcogliese, Jill A. Rosenfeld +12 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

0DataRank · unranked

42 citations

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

Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Genetics in Medicine(2021)10.1038/s41436-021-01232-8

N/A

0DataRank · unranked

49 citations

Rebecca C. Spillmann, Harley T. Kurata, Shawn M. Lamothe, Jasmine Maghera, Rami Abou Jamra +92 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

Commonalities across computational workflows for uncovering explanatory variants in undiagnosed cases

Genetics in Medicine(2021)10.1038/s41436-020-01084-8

N/A

0DataRank · unranked

34 citations

Dustin Baldridge, Matt Velinder, Joel B. Krier, Kimberly LeBlanc, Cecilia Esteves +90 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

A novel de novo intronic variant in ITPR1 causes Gillespie syndrome

American Journal of Medical Genetics Part A(2021)10.1002/ajmg.a.62232

N/A

0DataRank · unranked

17 citations

Ming‐Ming Jiang, Xiaohui Li, Ronit Marom, Hongzheng Dai, David R. Murdock +16 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

Loss-of-function variants inMYCBP2cause neurobehavioural phenotypes and corpus callosum defects

Brain(2022)10.1093/brain/awac364

N/A

0DataRank · unranked

39 citations

Muriel Desbois, Domnița-Valeria Rusnac, Raashda A. Sulaiman, Jill A. Rosenfeld, Seema R. Lalani +23 more

A dominant negative variant of RAB5B disrupts maturation of surfactant protein B and surfactant protein C

Proceedings of the National Academy of Sciences(2022)10.1073/pnas.2105228119

N/A

0DataRank · unranked

31 citations

Jiehong Pan, David R. Spielberg, Neil A. Hanchard, Daryl A. Scott, Lindsay C. Burrage +21 more

What Has the Undiagnosed Diseases Network Taught Us About the Clinical Applications of Genomic Testing?

Annual Review of Medicine(2022)10.1146/annurev-med-042120-014904

N/A

0DataRank · unranked

25 citations

Jill A. Rosenfeld, Brendan Lee, David R. Murdock

A novel, de novo intronic variant in POGZ causes White–Sutton syndrome

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62747

N/A

0DataRank · unranked

9 citations

David R. Murdock, Jill A. Rosenfeld, Hongzheng Dai, Shamika Ketkar, Lisa Emrick +10 more

PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature

American Journal of Medical Genetics Part A(2022)10.1002/ajmg.a.62704

N/A

0DataRank · unranked

4 citations

David R. Murdock, Lindsay C. Burrage, Hongzheng Dai, Seema R. Lalani, Richard A. Lewis +10 more

A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay

Human Mutation(2022)10.1002/humu.24497

N/A

0DataRank · unranked

6 citations

Wenmiao Zhu, Bo Yuan, Nicole Walley, Kelly Schoch, Yong‐hui Jiang +10 more

Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome

New England Journal of Medicine(2023)10.1056/nejmoa2202318

N/A

0DataRank · unranked

79 citations

Sarah A. Blackstone, Gwendolyn Clay, Rachael L. Philips, Brynja Matthiasardottir, Michele Nehrebecky +36 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

De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities

American Journal of Medical Genetics Part A(2023)10.1002/ajmg.a.63399

N/A

0DataRank · unranked

4 citations

Alexandrea Wadley, Chun-Hui Tsai, Paul J. Benke, Lisa Emrick, Kristen Fisher +15 more

Genome sequencing reveals the impact of pseudoexons in rare genetic disease

medRxiv(2024)10.1101/2024.12.21.24318325

N/A

0DataRank · unranked

3 citations

Megan Hawley, Light Auriga, Ivan De Dios, Arthur Ko, Sofia Marmolejos +20 more

Genome sequencing reveals the impact of pseudoexons in rare genetic disease

Genetics in Medicine(2025)10.1016/j.gim.2025.101574

N/A

0DataRank · unranked

5 citations

Megan Hawley, Light Auriga, Ivan De Dios, Arthur Ko, Sofia Marmolejos +20 more

De novo variants in RYBP are associated with a severe neurodevelopmental disorder and congenital anomalies

Genetics in Medicine(2025)10.1016/j.gim.2025.101369

N/A

0DataRank · unranked

4 citations

Lindsay C. Burrage, Sharayu Jangam, Jill A. Rosenfeld, Sandra von Hardenberg, Anke K. Bergmann +92 more

Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing

Journal of Clinical Investigation(2020)10.1172/jci141500

N/A

0DataRank · unranked

189 citations

Hongzheng Dai, Lindsay C. Burrage, Jill A. Rosenfeld, Shamika Ketkar, Michaela Müller +13 more

Integrative exome sequencing and machine learning identify MICB and interferon pathway genes as contributors to SSc risk

Annals of the Rheumatic Diseases(2025)10.1016/j.ard.2025.05.009

N/A

0DataRank · unranked

1 citations

Hongzheng Dai, Lindsay C. Burrage, David R. Murdock, Brian Dawson, Marialbert Acosta‐Herrera +9 more

Dominant-negative mutations in human IL6ST underlie hyper-IgE syndrome

The Journal of Experimental Medicine(2020)10.1084/jem.20191804

N/A

0DataRank · unranked

113 citations

Simon J. Tavernier, Yin‐Huai Chen, S. Cindy, Marie Materna, Arian Laurence +55 more

David R. Murdock

Indexed papers

Top data-sharing exemplar

Papers