Matt Might

Professor, Internal Medicine and Computer Science
Director, Hugh Kaul Precision Medicine Institute
Co-Director, Center for Precision Animal Modeling
Heersink School of Medicine
University of Alabama at Birmingham

Senior Lecturer
Department of Biomedical Informatics
Harvard Medical School

Frequently needed/requested info

You can email me at assist@might.net. (Short emails preferred.)
Information on having me speak at or travel to your event.
An interactive bio generator for me.
Headshot photos.
If you are a patient or caregiver seeking diagnosis or treatment, please see The Algorithm for Precision Medicine and feel free to reach out to me.
Twitter: @mattmight
Instagram: @mattmight
LinkedIn: matthewmight
Mastodon: @mattmight@mathstodon.xyz

About me

[If you need a formal bio for me, please see my bio generator.]

I'm a computer scientist that became passionate about precision medicine in a quest to diagnose my son Bertrand.

Finding he was the first case of a novel genetic disorder, I pivoted to finding treatments.

I've ended up applying and generalizing much of what I learned from him to help others, and helping patients facing complex medical challenges has become my life's mission.

I've spent most of my career in academia, but I have had major parallel stints in government (The White House, 2016-2018) and industry (co-founder at Pairnomix, LLC and [by acquisition] Q State Biosciences, Inc).

Most of my personal research brings together data science, artificial intelligence, machine learning and formal reasoning to accelerate biomedical science in the service of patients.

As Director of the Precision Medicine Institute, I oversee a faculty and research staff with a comprehensive research portfolio that includes significant bench science targeted at tailoring therapeutics to individual patients.

My broader interests include oligonucleotide therapeutics, model organisms, drug screening and medicinal chemistry.

Here are some short external summaries of my work:

Publications

Proceedings papers

[show all conference papers]

Germane, Kimball and McCarthy, Jay and Adams, Michael D. and Might, Matthew. "Demand Control-Flow Analysis." Verification, Model Checking, and Abstract Interpretation. (VMCAI 2019). Cascais, Portugal. January, 2019.
Germane, Kimball and Might, Matthew. "Relatively Complete Pushdown Analysis of Escape Continuations." Verification, Model Checking, and Abstract Interpretation. (VMCAI 2019). Cascais, Portugal. January, 2019.
Lisa Zhang and Gregory Rosenblatt and Ethan Fetaya and Renjie Liao and William E. Byrd and Matthew Might and Raquel Urtasun and Richard Zemel. "Neural Guided Constraint Logic Programming for Program Synthesis." Proceedings of the 32nd Conference on Neural Information Processing Systems. (NIPS 2018). Montreal, Canada. December, 2018.
Paper: [arXiv]
Jason Hemann and Daniel P. Friedman and William E. Byrd and Matthew Might. "A Simple Complete Search for Logic Programming." Technical Communications of the 33rd International Conference on Logic Programming. (ICLP 2018). Dagstuhl, Germany. July, 2018.
Byrd, William E. and Ballantyne, Michael and Rosenblatt, Gregory and Might, Matthew. "A Unified Approach to Solving Seven Programming Problems (Functional Pearl)." Proceedings of the ACM on Programming Languages. (ICFP 2017). Oxford, United Kingdom. August, 2017.
Paper: [Publisher PDF]
Adams, Michael D. and Might, Matthew. "Restricting Grammars with Tree Automata." Proceedings of the ACM on Programming Languages. (OOPSLA 2017). Vancouver, Canada. October, 2017.
Paper: [Publisher PDF]
Kimball Germane and Matthew Might. "A Posteriori Environment Analysis with Pushdown Delta CFA." Proceedings of the 44th Annual ACM Symposium on the Principles of Programming Languages (POPL 2017). Paris, France. January 2017.
Paper: [pdf]
Dakota Fisher, Matthew Hammer, William E. Byrd, Matthew Might. "miniAdapton: A Minimal Implementation of Incremental Computation in Scheme." Proceedings of the 2016 Workshop on Scheme and Functional Programming (Scheme 2016). Nara, Japan. September 2016.
Thomas Gilray, Michael Adams and Matthew Might. "Allocation Characterizes Polyvariance." Proceedings of the International Conference on Functional Programming (ICFP 2016). Nara, Japan. September 2016.
Jason Hemann, William Byrd, Daniel Friedman and Matthew Might. "A Small Embedding of Logic Programming with a Simple Complete Search." Proceedings of the Dynamic Languages Symposium. (DLS 2016). October 2016.
James King, Thomas Gilray, Robert M. Kirby, and Matthew Might "Dynamic Sparse-Matrix Allocation on GPUs." Proceedings of the International Supercomputing Conference (ISC 2016). Istanbul, Turkey. June 2016. [Winner of PRACE ISC Best Paper Award.]
Michael Adams, Celeste Hollenbeck and Matthew Might. "On the Complexity and Performance of Parsing with Derivatives." Proceedings of the 37th Annual Conference of Programming Language Design and Implementation (PLDI 2016). Santa Barbara, California. June 2016.
Thomas Gilray, Steven Lyde, Michael D. Adams, Matthew Might and David Van Horn. "Pushdown Control-Flow Analysis for Free." Proceedings of the 43rd Annual ACM Symposium on the Principles of Programming Languages (POPL 2016). St. Petersburgh, Florida. January 2016.
Paper: [pdf] [arXiv]
David Darais, Matthew Might and David Van Horn. "Galois Transformers and Modular Abstract Interpreters: Reusable Metatheory for Program Analysis." In Object-Oriented Programming, Systems, Languages & Applications (OOSLA 2015). Pittsburgh, Pennsylvania. October 2015.
Paper: [pdf] [arXiv]
Steven Lyde, William E. Byrd and Matthew Might. "Control-Flow Analysis of Dynamic Languages via Pointer Analysis." Proceedings of the 11th ACM Symposium on Dynamic Languages (DLS 2015). Pittsburgh, Pennsylvania. October 2015.
Paper: [pdf]
Steven Lyde and Matthew Might. "State Exploration Choices in a Small-Step Abstract Interpreter." Proceedings of the 2015 Workshop on Scheme and Functional Programming. (SFP 2015). Vancouver, Canada. September 2015.
Paper: [pdf]
Peter Aldous and Matthew Might. "Static analysis of non-interference in expressive low-level languages." Static Analysis Symposium (SAS 2015). Saint-Malo, France. September, 2015.
Paper: [pdf]
Maria Jenkins, Leif Andersen, Thomas Gilray and Matthew Might. "Concrete and Abstract Interpretation: Better Together." Proceedings of the 2014 Workshop on Scheme and Functional Programming. Washington, D.C. 19 November 2014.
Paper: [pdf]
Steven Lyde, Thomas Gilray and Matthew Might. "A Linear Encoding of Pushdown Control-Flow Analysis." Proceedings of the 2014 Workshop on Scheme and Functional Programming. Washington, D.C. 19 November 2014.
Paper: [pdf]
Michael Ballantyne, Christopher Earl and Matthew Might. "Meta-Meta-Programming: Generating C++ Template Metaprograms with Racket Macros." Proceedings of the 2014 Workshop on Scheme and Functional Programming. Washington, D.C. 19 November 2014.
Paper: [pdf]
(Best Paper Award) Shuying Liang, Weibin Sun and Matthew Might. "Fast Flow Analysis with Gödel Hashes." 14th IEEE International Working Conference on Source Code Analysis and Manipulation (SCAM 2014). Victoria, BC, Canada. 29 September 2014.
Paper: [pdf]
Shuying Liang, Weibin Sun, Matthew Might, Andrew Keep and David Van Horn. "Pruning, Pushdown Exception-Flow Analysis." 14th IEEE International Working Conference on Source Code Analysis and Manipulation (SCAM 2014). Victoria, BC, Canada. 29 September 2014.
Paper: [pdf]
Thomas Gilray, James King, and Matthew Might. "Partitioning 0-CFA for the GPU." Workshop on Functional and (constraint) Logic Programming. Wittenberg, Germany. 15 September 2014.
Paper: [pdf]
Steven Lyde and Matthew Might. "Environment Unrolling." Workshop on Higher-Order Program Analysis 2014 (HOPA 2014). Vienna, Austria. 18 July 2014.
Paper: [pdf]
Steven Lyde and Matthew Might. "Strong Function Call." Workshop on Higher-Order Program Analysis 2014 (HOPA 2014). Vienna, Austria. 18 July 2014.
Paper: [pdf]
Shuying Liang, Andrew W. Keep, Matthew Might, David Van Horn, Steven Lyde, Thomas Gilray and Petey Aldous. "Sound and Precise Malware Analysis for Android via Pushdown Reachability and Entry-Point Saturation." Proceedings of the 3rd Annual ACM CCS Workshop on Security and Privacy in Smartphones and Mobile Devices (SPSM 2013). Long paper category. Berlin, Germany. November 2013.
Paper: [pdf]
Shuying Liang and Matthew Might. "Entangled Abstract Domains for Higher-order Programs." Proceedings of the 2013 Workshop on Scheme and Functional Programming. Washington, D.C. 13 November 2013.
Paper: [pdf]
Leif Andersen and Matthew Might. "Multi-core Parallelization of Abstracted Abstract Machines." Proceedings of the 2013 Workshop on Scheme and Functional Programming. Washington, D.C. 13 November 2013.
Paper: [pdf]
Thomas Gilray and Matthew Might. "A Unified Approach to Polyvariance in Abstract Interpretations." Proceedings of the 2013 Workshop on Scheme and Functional Programming. Washington, D.C. 13 November 2013.
Paper: [pdf]
J. Ian Johnson, Nicholas Labich, Matthew Might, David Van Horn. "Optimizing Abstract Abstract Machines." Proceedings of the International Conference on Functional Programming 2013 (ICFP 2013). Boston, Massachusetts. September, 2013.
Paper: [pdf] [arXiv]
Shuying Liang, Matthew Might, David Van Horn. "AnaDroid: Malware Analysis of Android with User-Supplied Predicates." Proceedings of Tools for Automatic Program Analysis 2013 (TAPAS 2013). Seattle, Washington. 19 June 2013.
Paper: [pdf]
Steven Lyde and Matthew Might. "Control Flow Analysis with SAT Solvers." Proceedings of Trends of Functional Programming 2013 (TFP 2013). Provo, Utah. May 2013.
Paper: [pdf]
Thomas Gilray and Matthew Might. "A Survey of Polyvariance in Control-Flow Analyses." Proceedings of Trends of Functional Programming 2013 (TFP 2013). Provo, Utah. May 2013.
Steven Lyde, Matthew Might. "Extracting Hybrid Automata from Control Code." Proceedings of the 5th Annual NASA Formal Methods Symposium (NFM 2013). Short paper category. Moffet Field, CA. May, 2013.
Paper: [pdf]
Ilya Sergey, Dominique Devriese, Matthew Might, Jan Midtgaard, David Darais, Dave Clark, Frank Piessens. "Monadic Abstract Interpreters." Proceedings of the 34th Annual Conference of Programming Language Design and Implementation (PLDI 2013). Seattle, Washington. June, 2013.
Paper: [pdf]
Christopher Earl, Ilya Sergey, Matthew Might, David Van Horn. "Introspective Pushdown Analysis of Higher-Order Programs." International Conference on Functional Programming 2012 (ICFP 2012). Copenhagen, Denmark. September, 2012. pages 177--188.
Paper: [pdf]
Slides: [pdf]
Video: [youtube]
Jan Midtgaard, Michael D. Adams, Matthew Might. "A Structural Soundness Proof for Shivers's Escape Technique: A Case for Galois Connections." Static Analysis Symposium 2012 (SAS 2012). Deauville, France. September, 2012. pages 352--369.
Paper: [pdf]
Shuying Liang, Matthew Might. "Hash-Flow Taint Analysis of Higher-Order Programs." Programming Languages and Security 2012 (PLAS 2012). Beijing, China. June, 2012. pages 8:1--8:12.
Paper: [pdf]
Michael D. Adams, Andrew W. Keep, Jan Midtgaard, Matthew Might, Arun Chauhan and R. Kent Dybvig. "Flow-Sensitive Type Recovery in Linear-Log Time." Conference on Object-Oriented Programming, Systems, Languages and Applications (OOPSLA 2011). Portland, Oregon. October, 2011. pages 483--498.
Paper: [pdf]
Matthew Might, David Darais and Daniel Spiewak. "Functional Pearl: Parsing with Derivatives." International Conference on Functional Programming 2011 (ICFP 2011). Tokyo, Japan. September, 2011. pages 189--195.
Paper: [pdf]
Slides: [pdf]
Video: [mp4]
Matthew Might and David Van Horn. "A family of abstract interpretations for static analysis of concurrent higher-order programs." Static Analysis Symposium 2011 (SAS 2011). Venice, Italy. September, 2011.
Paper: [pdf] [arXiv]
Slides: [pdf]
Tarun Prabhu, Shreyas Ramalingam, Matthew Might and Mary Hall. "EigenCFA: Accelerating flow analysis with GPUs." 38th Annual ACM Symposium on the Principles of Programming Languages. (POPL 2011). Austin, Texas, USA. January, 2011. pages 511--522.
Paper: [pdf]

Christopher Earl, Matthew Might and David Van Horn. "Pushdown control-flow analysis of higher-order programs: Precise, polyvariant and polynomial-time." 2010 Workshop on Scheme and Functional Programming. (Scheme 2010). Montreal, Quebec, Canada. August, 2010.
Paper: [pdf] [bib]

@InProceedings{earl2010pdcfa,
  author =       {Christopher Earl and Matthew Might and David Van Horn},
  title =        {Pushdown Control-Flow Analysis of Higher-Order Programs},
  booktitle =    {Proceedings of the 2010 {W}orkshop on {S}cheme and {F}unctional {P}rogramming (Scheme 2010)},
  year =         {2010},
  address =      {Montreal, Quebec, Canada},
  month =        {August}
}

David Van Horn and Matthew Might. "Abstracting Abstract Machines." International Conference on Functional Programming 2010 (ICFP 2010). Baltimore, Maryland. September, 2010. pages 51--62.
Paper: [pdf] [errata]

Robby Findler and Michael Hueschen kindly pointed out that Figure 7 of this work contains a bug in definition of `tick`. Readers are encouraged to refer to the revised and improved JFP 2012 paper instead.
Matthew Might. "Abstract interpreters for free." Static Analysis Symposium 2010 (SAS 2010). Perpignan, France. September, 2010. pages 407--421.
Paper: [pdf]
Slides: [pdf]

Matthew Might, Yannis Smaragdakis and David Van Horn. "Resolving and exploiting the k-CFA paradox: Illuminating functional vs. object-oriented program analysis." Programming Language Design and Implementation 2010 (PLDI 2010). Toronto, Canada. June, 2010. pages 305--315.
Paper: [pdf] [bib]
Slides: [pdf]

@InProceedings{might2010mcfa,
  author =       {Matthew Might and Yannis Smaragdakis and David Van Horn},
  title =        {Resolving and exploiting the k-CFA paradox: Illuminating functional vs. object-oriented program analysis.},
  booktitle =    {Proceedings of the 31st {C}onference on {P}rogramming {L}anguage {D}esign and {I}mplementation  ({PLDI} 2006)},
  year =         {2010},
  pages =        {305--315},
  address =      {Toronto, Canada},
  month =        {June}
}

Matthew Might. "Shape analysis in the absence of pointers and structure." 11th International Conference on Verification, Model Checking and Abstract Interpretation (VMCAI 2010). Madrid, Spain. January, 2010. pages 263--278.
Paper: [pdf] [bib]
Slides: [pdf] [www/html] [www/flash] [keynote]

@InProceedings{might2010shape,
  author =       {Matthew Might},
  title =        {Shape analyis in the absence of pointers and structure},
  booktitle =    {Proceedings of the 11th {I}nternational {C}onference on {V}erification, {M}odel {C}hecking and {A}bstract {I}nterpretation  ({VMCAI} 2010)},
  year =         {2010},
  pages =        {263--278},
  address =      {Madrid, Spain},
  month =        {January}
}

Matthew Might and Tarun Prabhu. "Interprocedural dependence analysis of higher-order programs via stack reachability." 2009 Workshop on Scheme and Functional Programming. (Scheme 2009). Boston, Massachusetts. August, 2009.
Paper: [pdf] [bib]
Slides: [pdf] [www/html] [keynote]

@InProceedings{might2009dependence,
  author =       {Matthew Might and Tarun Prabhu},
  title =        {Interprocedural dependence analysis of higher-order programs via stack reachability},
  booktitle =    {Proceedings of the 2009 {W}orkshop on {S}cheme and {F}unctional {P}rogramming (Scheme 2009)},
  year =         {2009},
  address =      {Boston, Massachusetts, USA},
  month =        {August}
}

Matthew Might and Panagiotis Manolios. "A posteriori soundness for non-deterministic abstract interpretations." 10th International Conference on Verification, Model Checking and Abstract Interpretation (VMCAI 2009). Savannah, Georgia, USA. January, 2009. pages 260--274.
Paper: [pdf] [bib]
Slides: [pdf] [www/html] [keynote]

@InProceedings{might2009aposteriori,
  author =       {Matthew Might and Panagiotis Manolios},
  title =        {\emph{A posteriori} soundness for non-deterministic abstract interpretations},
  booktitle =    {Proceedings of the 10th {I}nternational {C}onference on {V}erification, {M}odel {C}hecking and {A}bstract {I}nterpretation  ({VMCAI} 2009)},
  year =         {2009},
  address =      {Savannah, Georgia, USA},
  month =        {January}
}

Matthew Might. "Logic-flow analysis of higher-order programs." 34th Annual ACM Symposium on the Principles of Programming Languages (POPL 2007). Long paper category. Nice, France. January, 2007. pages 185--198.
Paper: [pdf] [bib]
Slides: [pdf]

@InProceedings{might2007lfa,
  author =    {Matthew Might},
  title =     {Logic-Flow Analysis of Higher-Order Programs},
  booktitle = {Proceedings of the 34th {A}nnual {ACM} {S}ymposium on the {P}rinciples of {P}rogramming {L}anguages  ({POPL} 2007)},
  pages =     {185--198},
  year =      {2007},
  address =   {Nice, France},
  month =     {January}
}

Matthew Might, Benjamin Chambers and Olin Shivers. "Model Checking via ΓCFA." 8th International Conference on Verification, Model Checking and Abstract Interpretation (VMCAI 2007). Nice, France. January, 2007. pages 59--73.
Paper: [pdf] [bib]

@InProceedings{might2007gcfamc,
  author =       {Matthew Might and Benjamin Chambers and Olin Shivers},
  title =        {Model Checking via {$\Gamma$CFA}},
  booktitle =    {Proceedings of the 8th {I}nternational {C}onference on {V}erification, {M}odel {C}hecking and {A}bstract {I}nterpretation  ({VMCAI} 2007)},
  pages =        {59--73},
  year =         {2007},
  address =      {Nice, France},
  month =        {January}
}

Matthew Might and Olin Shivers. "Improving flow analyses via ΓCFA: Abstract garbage collection and counting." 11th ACM International Conference on Functional Programming (ICFP 2006). Portland, Oregon. September, 2006. pages 13--25.
Paper: [pdf] [bib]
Slides: [pdf]

@InProceedings{might2006gcfa,
  author =       {Matthew Might and Olin Shivers},
  title =        {Improving Flow Analyses via {$\Gamma$CFA}: Abstract Garbage Collection and Counting},
  booktitle =    {Proceedings of the 11th {ACM} {I}nternational {C}onference on {F}unctional {P}rogramming  ({ICFP} 2006)},
  pages =        {13--25},
  year =         {2006},
  address =      {Portland, Oregon},
  month =        {September}
}

Olin Shivers and Matthew Might. "Continuations and transducer composition." 27th Conference on Programming Language Design and Implementation (PLDI 2006). Ottawa, Canada. pages 295--307. June, 2006.
Paper: [pdf] [bib]
Slides: [pdf]

@InProceedings{might2006transducer,
  author =       {Olin Shivers and Matthew Might},
  title =        {Continuations and Transducer Composition},
  booktitle =    {Proceedings of the 27th {C}onference on {P}rogramming {L}anguage {D}esign and {I}mplementation  ({PLDI} 2006)},
  pages =        {295--307},
  year =         {2006},
  address =      {Ottawa, Canada},
  month =        {June}
}

Matthew Might and Olin Shivers. "Environment analysis via ΔCFA." 33rd Annual ACM Symposium on the Principles of Programming Languages (POPL 2006). Charleston, South Carolina. January, 2006. pages 127--140.
Paper: [pdf] [bib]
Slides: [pdf]

@InProceedings{might2006dcfa,
  author =       {Matthew Might and Olin Shivers},
  title =        {Environment Analysis via {$\Delta$CFA}},
  booktitle =    {Proceedings of the 33rd {A}nnual {ACM} {S}ymposium on the {P}rinciples of {P}rogramming {L}anguages  ({POPL} 2006)},
  pages =        {127--140},
  year =         {2006},
  address =      {Charleston, South Carolina},
  month =        {January}
}

Journal papers

[show all journal papers]

Pavlinov, Ivan and Farkhondeh, Atena and Yang, Shu and Xu, Miao and Cheng, Yu-Shan and Beers, Jeanette and Zou, Jizhong and Liu, Chengyu and Might, Matthew and Rodems, Steven and Baumgärtel, Karsten and Zheng, Wei. "Generation of two gene corrected human isogenic iPSC lines (NCATS-CL6104 and NCATS-CL6105) from a patient line (NCATS-CL6103) carrying a homozygous p.R401X mutation in the NGLY1 gene using CRISPR/Cas9." Stem Cell Research. October, 2021.
Tran, Diem-Trang and Might, Matthew. "cdev: a ground-truth based measure to evaluate RNA-seq normalization performance." PeerJ. October, 2021.
Kohler, Jennefer N and Kelley, Emily G and Boyd, Brenna M and Sillari, Catherine H and Marwaha, Shruti and Undiagnosed Diseases Network and Wheeler, Matthew T. "Genetic counselor roles in the undiagnosed diseases network research study: Clinical care, collaboration, and curation." Journal of genetic counseling. August, 2021.
McConkie-Rosell, Allyn and Schoch, Kelly and Sullivan, Jennifer and Spillmann, Rebecca C and Cope, Heidi and Tan, Queenie K-G and Palmer, Christina G S and Undiagnosed Disease Network and Hooper, Stephen R and Shashi, Vandana. "Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples." Journal of genetic counseling. June, 2021.
Pradhan, Manisha and Farkhondeh, Atena and Cheng, Yu-Shan and Xu, Miao and Beers, Jeanette and Zou, Jizhong and Liu, Chengyu and Might, Matthew and Rodems, Steven and Baumgärtel, Karsten and Zheng, Wei. "An induced pluripotent stem cell line (NCATS-CL9075) from a patient carrying compound heterozygote mutations, p.R390P and p.L318P, in the NGLY1 gene." Stem Cell Research. July, 2021.
Studwell, Courtney M and Kelley, Emily G and Undiagnosed Diseases Network and Sinsheimer, Janet S and Palmer, Christina G S and LeBlanc, Kimberly. "Family genetic result communication in rare and undiagnosed disease communities: Understanding the practice." Journal of genetic counseling. April, 2021.
Tao, Dingyin and Xu, Miao and Farkhondeh, Atena and Burns, Andrew P and Rodems, Steven and Might, Matthew and Zheng, Wei and LeClair, Christopher A. "High-throughput protein modification quantitation analysis using intact protein MRM and its application on hENGase inhibitor screening." Talanta. August, 2021.
Sturrock, Beattie R H and Macnamara, Ellen F and McGuire, Peter and Kruk, Shannon and Yang, Ivan and Murphy, Jennifer and Undiagnosed Diseases Network and Tifft, Cyndi J and Gordon-Lipkin, Eliza. "Progressive cerebellar atrophy in a patient with complex II and III deficiency and a novel deleterious variant in SDHA: A Counseling Conundrum." Molecular genetics & genomic medicine. June, 2021.
Cope, Heidi and Barseghyan, Hayk and Bhattacharya, Surajit and Fu, Yulong and Hoppman, Nicole and Marcou, Cherisse and Walley, Nicole and Rehder, Catherine and Deak, Kristen and Alkelai, Anna and Undiagnosed Diseases Network and Vilain, Eric and Shashi, Vandana. "Detection of a mosaic CDKL5 deletion and inversion by optical genome mapping ends an exhaustive diagnostic odyssey." Molecular genetics & genomic medicine. July, 2021.
Briere, Lauren C and Walker, Melissa A and High, Frances A and Cooper, Cynthia and Rogers, Cassandra A and Callahan, Christine J and Ishimura, Ryosuke and Ichimura, Yoshinobu and Caruso, Paul A and Sharma, Nutan and Brokamp, Elly and Koziura, Mary E and Mohammad, Shekeeb S and Dale, Russell C and Riley, Lisa G and Undiagnosed Diseases Network and Phillips, John A and Komatsu, Masaaki and Sweetser, David A. "A description of novel variants and review of phenotypic spectrum in UBA5-related early epileptic encephalopathy." Molecular Case Studies. June, 2021.
LeBlanc, Kimberly and Kelley, Emily G and Nagy, Anna and Bater, Jorick and Berro, Tala and McGuinness, Molly A and Studwell, Courtney and Undiagnosed Diseases Network and Might, Matthew. "Rare disease patient matchmaking: development and outcomes of an internet case-finding strategy in the Undiagnosed Diseases Network." Orphanet Journal of Rare Diseases. May, 2021.
Nickols, Nicholas G and Goetz, Matthew B and Graber, Christopher J and Bhattacharya, Debika and Soo Hoo, Guy and Might, Matthew and Goldstein, David B and Wang, Xinchen and Ramoni, Rachel and Myrie, Kenute and Tran, Samantha and Ghayouri, Leila and Tsai, Sonny and Geelhoed, Michelle and Makarov, Danil and Becker, Daniel J and Tsay, Jun-Chieh and Diamond, Melissa and George, Asha and Al-Ajam, Mohammad and Belligund, Pooja and Montgomery, R Bruce and Mostaghel, Elahe A and Sulpizio, Carlie and Mi, Zhibao and Dematt, Ellen and Tadalan, Joseph and Norman, Leslie E and Briones, Daniel and Clise, Christina E and Taylor, Zachary W and Huminik, Jeffrey R and Biswas, Kousick and Rettig, Matthew B. "Hormonal intervention for the treatment of veterans with COVID-19 requiring hospitalization (HITCH): a multicenter, phase 2 randomized controlled trial of best supportive care vs best supportive care plus degarelix: study protocol for a randomized controlled trial." Trials. July, 2021.
Greer, Rory and Song, Yuwei and Patton, Michael J. and Might, Matthew and Harrod, Kevin and Petit, Chad M. and Song, Yuhua. "Identification of FDA Approved Antiviral Drugs for COVID-19 Treatment using Unbiased Virtual Screening." Biophysical Journal. February, 2021.
Mannucci, Ilaria and Dang, Nghi D P and Huber, Hannes and Murry, Jaclyn B and Abramson, Jeff and Althoff, Thorsten and Banka, Siddharth and Baynam, Gareth and Bearden, David and Beleza-Meireles, Ana and Benke, Paul J and Berland, Siren and Bierhals, Tatjana and Bilan, Frederic and Bindoff, Laurence A and Braathen, Geir Julius and Busk, Øyvind L and Chenbhanich, Jirat and Denecke, Jonas and Escobar, Luis F and Estes, Caroline and Fleischer, Julie and Groepper, Daniel and Haaxma, Charlotte A and Hempel, Maja and Holler-Managan, Yolanda and Houge, Gunnar and Jackson, Adam and Kellogg, Laura and Keren, Boris and Kiraly-Borri, Catherine and Kraus, Cornelia and Kubisch, Christian and Le Guyader, Gwenael and Ljungblad, Ulf W and Brenman, Leslie Manace and Martinez-Agosto, Julian A and Might, Matthew and Miller, David T and Minks, Kelly Q and Moghaddam, Billur and Nava, Caroline and Nelson, Stanley F and Parant, John M and Prescott, Trine and Rajabi, Farrah and Randrianaivo, Hanitra and Reiter, Simone F and Schuurs-Hoeijmakers, Janneke and Shieh, Perry B and Slavotinek, Anne and Smithson, Sarah and Stegmann, Alexander P A and Tomczak, Kinga and Tveten, Kristian and Wang, Jun and Whitlock, Jordan H and Zweier, Christiane and McWalter, Kirsty and Juusola, Jane and Quintero-Rivera, Fabiola and Fischer, Utz and Yeo, Nan Cher and Kreienkamp, Hans-Jürgen and Lessel, Davor. "Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders." Genome Medicine. May, 2021.
Patton, Michael J. and Fortmann, Seth D. and Frey, Blake F. and Vieira, Cristiano P. and Reddy, Sivani B. and Huls, Forest and Crouse, Andrew and Floyd, Jason and Prasad, Ram and Hanumanthu, Vidya Sagar and Sterrett, Sarah and Zucker, Jeremy D. and Li, Peng and Erdmann, Nathan and Goepfert, Paul A. and Gaggar, Amit and Grant, Maria B. and Might, Matthew. "Megakaryocytes are a Novel SARS-CoV-2 Infection Target and Risk Factor for Mortality and Multi-Organ Failure." medRxiv. August, 2021.
Pacl, Hayden T and Tipper, Jennifer L and Sevalkar, Ritesh R and Crouse, Andrew and Crowder, Camerron and UAB Precision Medicine Institute and Ahmad, Shama and Ahmad, Aftab and Holder, Gillian D and Kuhlman, Charles J and Chinta, Krishna C and Nadeem, Sajid and Green, Todd J and Petit, Chad M and Steyn, Adrie J C and Might, Matthew and Harrod, Kevin S. "Water-soluble tocopherol derivatives inhibit SARS-CoV-2 RNA-dependent RNA polymerase." BioRxiv. July, 2021.
Panneerselvam, Sugi and Wang, Julia and Zhu, Wenmiao and Dai, Hongzheng and Pappas, John G and Rabin, Rachel and Low, Karen J and Rosenfeld, Jill A and Emrick, Lisa and Xiao, Rui and Xia, Fan and Yang, Yaping and Eng, Christine M and Anderson, Anne and Chau, Vann and Soler-Alfonso, Claudia and Streff, Haley and Lalani, Seema R and Mercimek-Andrews, Saadet and Undiagnosed Diseases Network and DDD Study and Bi, Weimin. "PPP3CA truncating variants clustered in the regulatory domain cause early-onset refractory epilepsy." Clinical Genetics. August, 2021.
East, Kelly M and Kelley, Whitley V and Cannon, Ashley and Cochran, Meagan E and Moss, Irene P and May, Thomas and Nakano-Okuno, Mariko and Sodeke, Stephen O and Edberg, Jeffrey C and Cimino, James J and Fouad, Mona and Curry, William A and Hurst, Anna C E and Bowling, Kevin M and Thompson, Michelle L and Bebin, E Martina and Johnson, Robert D and AGHI Consortium and Cooper, Gregory M and Might, Matthew and Barsh, Gregory S and Korf, Bruce R. "A state-based approach to genomics for rare disease and population screening." Genetics in Medicine. April, 2021.
Meissner, Laura E and Macnamara, Ellen F and D'Souza, Precilla and Yang, John and Vezina, Gilbert and Undiagnosed Diseases Network and Ferreira, Carlos R and Zein, Wadih M and Tifft, Cynthia J and Adams, David R. "DYRK1A pathogenic variants in two patients with syndromic intellectual disability and a review of the literature." Molecular genetics & genomic medicine. December, 2020.
Khomtchouk, Bohdan B and Tran, Diem-Trang and Vand, Kasra A and Might, Matthew and Gozani, Or and Assimes, Themistocles L. "Cardioinformatics: the nexus of bioinformatics and precision cardiology." Briefings in Bioinformatics. December, 2020.
Rubinstein, Yaffa R and Robinson, Peter N and Gahl, William A and Avillach, Paul and Baynam, Gareth and Cederroth, Helene and Goodwin, Rebecca M and Groft, Stephen C and Hansson, Mats G and Harris, Nomi L and Huser, Vojtech and Mascalzoni, Deborah and McMurry, Julie A and Might, Matthew and Nellaker, Christoffer and Mons, Barend and Paltoo, Dina N and Pevsner, Jonathan and Posada, Manuel and Rockett-Frase, Alison P and Roos, Marco and Rubinstein, Tamar B and Taruscio, Domenica and van Enckevort, Esther and Haendel, Melissa A. "The case for open science: rare diseases." JAMIA open. October, 2020.
Crouse, Andrew B and Grimes, Tiffany and Li, Peng and Might, Matthew and Ovalle, Fernando and Shalev, Anath. "Metformin Use Is Associated With Reduced Mortality in a Diverse Population With COVID-19 and Diabetes." Frontiers in endocrinology. January, 2020.
Schneeberger, Pauline E and Kortüm, Fanny and Korenke, Georg Christoph and Alawi, Malik and Santer, René and Woidy, Mathias and Buhas, Daniela and Fox, Stephanie and Juusola, Jane and Alfadhel, Majid and Webb, Bryn D and Coci, Emanuele G and Abou Jamra, Rami and Siekmeyer, Manuela and Biskup, Saskia and Heller, Corina and Maier, Esther M and Javaher-Haghighi, Poupak and Bedeschi, Maria F and Ajmone, Paola F and Iascone, Maria and Peeters, Hilde and Ballon, Katleen and Jaeken, Jaak and Rodríguez Alonso, Aroa and Palomares-Bralo, María and Santos-Simarro, Fernando and Meuwissen, Marije E C and Beysen, Diane and Kooy, R Frank and Houlden, Henry and Murphy, David and Doosti, Mohammad and Karimiani, Ehsan G and Mojarrad, Majid and Maroofian, Reza and Noskova, Lenka and Kmoch, Stanislav and Honzik, Tomas and Cope, Heidi and Sanchez-Valle, Amarilis and Undiagnosed Diseases Network and Gelb, Bruce D and Kurth, Ingo and Hempel, Maja and Kutsche, Kerstin. "Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder." Brain: A Journal of Neurology. August, 2020.
Queralt-Rosinach, Núria and Stupp, Gregory S and Li, Tong Shu and Mayers, Michael and Hoatlin, Maureen E and Might, Matthew and Good, Benjamin M and Su, Andrew I. "Structured reviews for data and knowledge-driven research." Database: the Journal of Biological Databases and Curation. January, 2020.
Mao, Dongxue and Reuter, Chloe M and Ruzhnikov, Maura R Z and Beck, Anita E and Farrow, Emily G and Emrick, Lisa T and Rosenfeld, Jill A and Mackenzie, Katherine M and Robak, Laurie and Wheeler, Matthew T and Burrage, Lindsay C and Jain, Mahim and Liu, Pengfei and Calame, Daniel and Küry, Sébastien and Sillesen, Martin and Schmitz-Abe, Klaus and Tonduti, Davide and Spaccini, Luigina and Iascone, Maria and Genetti, Casie A and Koenig, Mary K and Graf, Madeline and Tran, Alyssa and Alejandro, Mercedes and Undiagnosed Diseases Network and Lee, Brendan H and Thiffault, Isabelle and Agrawal, Pankaj B and Bernstein, Jonathan A and Bellen, Hugo J and Chao, Hsiao-Tuan. "De novo EIF2AK1 and EIF2AK2 Variants Are Associated with Developmental Delay, Leukoencephalopathy, and Neurologic Decompensation." American Journal of Human Genetics. April, 2020.
Tran, Diem-Trang and Bhaskara, Aditya and Kuberan, Balagurunathan and Might, Matthew. "A graph-based algorithm for RNA-seq data normalization." Plos One. January, 2020.
Johnson, Brett V and Kumar, Raman and Oishi, Sabrina and Alexander, Suzy and Kasherman, Maria and Vega, Michelle Sanchez and Ivancevic, Atma and Gardner, Alison and Domingo, Deepti and Corbett, Mark and Parnell, Euan and Yoon, Sehyoun and Oh, Tracey and Lines, Matthew and Lefroy, Henrietta and Kini, Usha and Van Allen, Margot and Gr\o nborg, Sabine and Mercier, Sandra and Küry, Sébastien and Bézieau, Stéphane and Pasquier, Laurent and Raynaud, Martine and Afenjar, Alexandra and Billette de Villemeur, Thierry and Keren, Boris and Désir, Julie and Van Maldergem, Lionel and Marangoni, Martina and Dikow, Nicola and Koolen, David A and VanHasselt, Peter M and Weiss, Marjan and Zwijnenburg, Petra and Sa, Joaquim and Reis, Claudia Falcao and López-Otín, Carlos and Santiago-Fernández, Olaya and Fernández-Jaén, Alberto and Rauch, Anita and Steindl, Katharina and Joset, Pascal and Goldstein, Amy and Madan-Khetarpal, Suneeta and Infante, Elena and Zackai, Elaine and Mcdougall, Carey and Narayanan, Vinodh and Ramsey, Keri and Mercimek-Andrews, Saadet and Pena, Loren and Shashi, Vandana and Undiagnosed Diseases Network and Schoch, Kelly and Sullivan, Jennifer A and Pinto E Vairo, Filippo and Pichurin, Pavel N and Ewing, Sarah A and Barnett, Sarah S and Klee, Eric W and Perry, M Scott and Koenig, Mary Kay and Keegan, Catherine E and Schuette, Jane L and Asher, Stephanie and Perilla-Young, Yezmin and Smith, Laurie D and Rosenfeld, Jill A and Bhoj, Elizabeth and Kaplan, Paige and Li, Dong and Oegema, Renske and van Binsbergen, Ellen and van der Zwaag, Bert and Smeland, Marie Falkenberg and Cutcutache, Ioana and Page, Matthew and Armstrong, Martin and Lin, Angela E and Steeves, Marcie A and Hollander, Nicolette den and Hoffer, Mariëtte J V and Reijnders, Margot R F and Demirdas, Serwet and Koboldt, Daniel C and Bartholomew, Dennis and Mosher, Theresa Mihalic and Hickey, Scott E and Shieh, Christine and Sanchez-Lara, Pedro A and Graham, John M and Tezcan, Kamer and Schaefer, G B and Danylchuk, Noelle R and Asamoah, Alexander and Jackson, Kelly E and Yachelevich, Naomi and Au, Margaret and Pérez-Jurado, Luis A and Kleefstra, Tjitske and Penzes, Peter and Wood, Stephen A and Burne, Thomas and Pierson, Tyler Mark and Piper, Michael and Gécz, Jozef and Jolly, Lachlan A. "Partial loss of USP9X function leads to a male neurodevelopmental and behavioral disorder converging on transforming growth factor β signaling." Biological Psychiatry. January, 2020.
Li, Rong and Pradhan, Manisha and Xu, Miao and Baskfield, Amanda and Farkhondeh, Atena and Cheng, Yu-Shan and Beers, Jeanette and Zou, Jizhong and Liu, Chengyu and Might, Matthew and Rodems, Steven and Zheng, Wei. "Generation of an induced pluripotent stem cell line (TRNDi002-B) from a patient carrying compound heterozygous p.Q208X and p.G310G mutations in the NGLY1 gene." Stem Cell Research. January, 2019.
Grove, Megan E and White, Shana and Fisk, Dianna G and Rego, Shannon and Dagan-Rosenfeld, Orit and Kohler, Jennefer N and Reuter, Chloe M and Bonner, Devon and Undiagnosed Diseases Network and Wheeler, Matthew T and Bernstein, Jonathan A and Ormond, Kelly E and Hanson-Kahn, Andrea K. "Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students." Journal of genetic counseling. April, 2019.
Newman, John H and Shaver, Aaron and Sheehan, Jonathan H and Mallal, Simon and Stone, John H and Pillai, Shiv and Bastarache, Lisa and Riebau, Derek and Allard-Chamard, Hugues and Stone, William M and Perugino, Cory and Pilkinton, Mark and Smith, Scott A and McDonnell, Wyatt J and Capra, John A and Meiler, Jens and Cogan, Joy and Xing, Kelly and Mahajan, Vinay S and Mattoo, Hamid and Hamid, Rizwan and Phillips, John A and Undiagnosed Disease Network. "IgG4-related disease: Association with a rare gene variant expressed in cytotoxic T cells." Molecular genetics & genomic medicine. June, 2019.
Shashi, Vandana and Geist, Janelle and Lee, Youngha and Yoo, Yongjin and Shin, Unbeom and Schoch, Kelly and Sullivan, Jennifer and Stong, Nicholas and Smith, Edward and Jasien, Joan and Kranz, Peter and Undiagnosed Diseases Network and Lee, Yoonsung and Shin, Yong Beom and Wright, Nathan T and Choi, Murim and Kontrogianni-Konstantopoulos, Aikaterini. "Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis." Human Mutation. August, 2019.
Bhatia, Aashim and Mobley, Bret C and Cogan, Joy and Koziura, Mary E and Brokamp, Elly and Phillips, John and Newman, John and Undiagnosed Diseases Network (UDN) and Moore, Steven A and Hamid, Rizwan and Members of the Undiagnosed Diseases Network. "Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy." Clinical Imaging. June, 2019.
McConkie-Rosell, Allyn and Schoch, Kelly and Sullivan, Jennifer and Cope, Heidi and Spillmann, Rebecca and Palmer, Christina G S and Pena, Loren and Jiang, Yong-Hui and Daniels, Nicole and Walley, Nicole and Tan, Khoon G and Undiagnosed Diseases Network and Hooper, Stephen R and Shashi, Vandana. "The genome empowerment scale: An assessment of parental empowerment in families with undiagnosed disease." Clinical Genetics. December, 2019.
Cassini, Thomas A and Duncan, Laura and Rives, Lynette C and Newman, John H and Phillips, John A and Koziura, Mary E and Brault, Jennifer and Hamid, Rizwan and Cogan, Joy and Undiagnosed Diseases Network. "Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms." Molecular genetics & genomic medicine. June, 2019.
Burrage, Lindsay C and Reynolds, John J and Baratang, Nissan Vida and Phillips, Jennifer B and Wegner, Jeremy and McFarquhar, Ashley and Higgs, Martin R and Christiansen, Audrey E and Lanza, Denise G and Seavitt, John R and Jain, Mahim and Li, Xiaohui and Parry, David A and Raman, Vandana and Chitayat, David and Chinn, Ivan K and Bertuch, Alison A and Karaviti, Lefkothea and Schlesinger, Alan E and Earl, Dawn and Bamshad, Michael and Savarirayan, Ravi and Doddapaneni, Harsha and Muzny, Donna and Jhangiani, Shalini N and Eng, Christine M and Gibbs, Richard A and Bi, Weimin and Emrick, Lisa and Rosenfeld, Jill A and Postlethwait, John and Westerfield, Monte and Dickinson, Mary E and Beaudet, Arthur L and Ranza, Emmanuelle and Huber, Celine and Cormier-Daire, Valérie and Shen, Wei and Mao, Rong and Heaney, Jason D and Orange, Jordan S and University of Washington Center for Mendelian Genomics and Undiagnosed Diseases Network and Bertola, Débora and Yamamoto, Guilherme L and Baratela, Wagner A R and Butler, Merlin G and Ali, Asim and Adeli, Mehdi and Cohn, Daniel H and Krakow, Deborah and Jackson, Andrew P and Lees, Melissa and Offiah, Amaka C and Carlston, Colleen M and Carey, John C and Stewart, Grant S and Bacino, Carlos A and Campeau, Philippe M and Lee, Brendan. "Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes." American Journal of Human Genetics. mar, 2019.
Crouse, Andrew and Nakano-Okuno, Mariko and Might, Matthew and May, Thomas. "N-of-1 Precision Medicine and Research Oversight." The American Journal of Bioethics. August, 2019.
Accogli, Andrea and Calabretta, Sara and St-Onge, Judith and Boudrahem-Addour, Nassima and Dionne-Laporte, Alexandre and Joset, Pascal and Azzarello-Burri, Silvia and Rauch, Anita and Krier, Joel and Fieg, Elizabeth and Pallais, Juan C and Undiagnosed Diseases Network and McConkie-Rosell, Allyn and McDonald, Marie and Freedman, Sharon F and Rivière, Jean-Baptiste and Lafond-Lapalme, Joël and Simpson, Brittany N and Hopkin, Robert J and Trimouille, Aurélien and Van-Gils, Julien and Begtrup, Amber and McWalter, Kirsty and Delphine, Heron and Keren, Boris and Genevieve, David and Argilli, Emanuela and Sherr, Elliott H and Severino, Mariasavina and Rouleau, Guy A and Yam, Patricia T and Charron, Frédéric and Srour, Myriam. "De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects." American Journal of Human Genetics. October, 2019.
Zastrow, Diane B and Kohler, Jennefer N and Bonner, Devon and Reuter, Chloe M and Fernandez, Liliana and Grove, Megan E and Fisk, Dianna G and Undiagnosed Diseases Network and Yang, Yaping and Eng, Christine M and Ward, Patricia A and Bick, David and Worthey, Elizabeth A and Fisher, Paul G and Ashley, Euan A and Bernstein, Jonathan A and Wheeler, Matthew T. "A toolkit for genetics providers in follow-up of patients with non-diagnostic exome sequencing." Journal of genetic counseling. April, 2019.
Kanca, Oguz and Andrews, Jonathan C and Lee, Pei-Tseng and Patel, Chirag and Braddock, Stephen R and Slavotinek, Anne M and Cohen, Julie S and Gubbels, Cynthia S and Aldinger, Kimberly A and Williams, Judy and Indaram, Maanasa and Fatemi, Ali and Yu, Timothy W and Agrawal, Pankaj B and Vezina, Gilbert and Simons, Cas and Crawford, Joanna and Lau, C Christopher and Undiagnosed Diseases Network and Chung, Wendy K and Markello, Thomas C and Dobyns, William B and Adams, David R and Gahl, William A and Wangler, Michael F and Yamamoto, Shinya and Bellen, Hugo J and Malicdan, May Christine V. "De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia." American Journal of Human Genetics. August, 2019.
Nicoli, Elena-Raluca and Weston, Mary R and Hackbarth, Mary and Becerril, Alissa and Larson, Austin and Zein, Wadih M and Baker, Peter R and Burke, John Douglas and Dorward, Heidi and Davids, Mariska and Huang, Yan and Adams, David R and Zerfas, Patricia M and Chen, Dong and Markello, Thomas C and Toro, Camilo and Wood, Tim and Elliott, Gene and Vu, Mylinh and Undiagnosed Diseases Network and Zheng, Wei and Garrett, Lisa J and Tifft, Cynthia J and Gahl, William A and Day-Salvatore, Debra L and Mindell, Joseph A and Malicdan, May Christine V. "Lysosomal storage and albinism due to effects of a de novo CLCN7 variant on lysosomal acidification." American Journal of Human Genetics. June, 2019.
Farkhondeh, Atena and Li, Rong and Gorshkov, Kirill and Chen, Kevin G and Might, Matthew and Rodems, Steven and Lo, Donald C and Zheng, Wei. "Induced pluripotent stem cells for neural drug discovery." Drug Discovery Today. April, 2019.
Kelly, McKenna and Park, Meredith and Mihalek, Ivana and Rochtus, Anne and Gramm, Marie and Pérez-Palma, Eduardo and Axeen, Erika Takle and Hung, Christina Y and Olson, Heather and Swanson, Lindsay and Anselm, Irina and Briere, Lauren C and High, Frances A and Sweetser, David A and Undiagnosed Diseases Network and Kayani, Saima and Snyder, Molly and Calvert, Sophie and Scheffer, Ingrid E and Yang, Edward and Waugh, Jeff L and Lal, Dennis and Bodamer, Olaf and Poduri, Annapurna. "Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region." Epilepsia. mar, 2019.
Machol, Keren and Rousseau, Justine and Ehresmann, Sophie and Garcia, Thomas and Nguyen, Thi Tuyet Mai and Spillmann, Rebecca C and Sullivan, Jennifer A and Shashi, Vandana and Jiang, Yong-Hui and Stong, Nicholas and Fiala, Elise and Willing, Marcia and Pfundt, Rolph and Kleefstra, Tjitske and Cho, Megan T and McLaughlin, Heather and Rosello Piera, Monica and Orellana, Carmen and Martínez, Francisco and Caro-Llopis, Alfonso and Monfort, Sandra and Roscioli, Tony and Nixon, Cheng Yee and Buckley, Michael F and Turner, Anne and Jones, Wendy D and van Hasselt, Peter M and Hofstede, Floris C and van Gassen, Koen L I and Brooks, Alice S and van Slegtenhorst, Marjon A and Lachlan, Katherine and Sebastian, Jessica and Madan-Khetarpal, Suneeta and Sonal, Desai and Sakkubai, Naidu and Thevenon, Julien and Faivre, Laurence and Maurel, Alice and Petrovski, Slavé and Krantz, Ian D and Tarpinian, Jennifer M and Rosenfeld, Jill A and Lee, Brendan H and Undiagnosed Diseases Network and Campeau, Philippe M. "Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay." American Journal of Human Genetics. January, 2019.
Vasilevsky, Nicole A and Foster, Erin D and Engelstad, Mark E and Carmody, Leigh and Might, Matt and Chambers, Chip and Dawkins, Hugh J S and Lewis, Janine and Della Rocca, Maria G and Snyder, Michelle and Boerkoel, Cornelius F and Rath, Ana and Terry, Sharon F and Kent, Alastair and Searle, Beverly and Baynam, Gareth and Jones, Erik and Gavin, Pam and Bamshad, Michael and Chong, Jessica and Groza, Tudor and Adams, David and Resnick, Adam C and Heath, Allison P and Mungall, Chris and Holm, Ingrid A and Rageth, Kayli and Brownstein, Catherine A and Shefchek, Kent and McMurry, Julie A and Robinson, Peter N and Köhler, Sebastian and Haendel, Melissa A. "Plain-language medical vocabulary for precision diagnosis." Nature Genetics. April, 2018.
Paper: [PDF] [Publisher]
Zhang, Lisa and Rosenblatt, Gregory and Fetaya, Ethan and Liao, Renjie and Byrd, William E. and Might, Matthew and Urtasun, Raquel and Zemel, Richard. "Neural Guided Constraint Logic Programming for Program Synthesis." arXiv. September, 2018.
Gilray, Thomas and Adams, Michael D. and Might, Matthew. "Abstract allocation as a unified approach to polyvariance in control-flow analyses." Journal of Functional Programming. August, 2018.
Note: Invited to special issue for best papers of ICFP 2016
Tan, Queenie K-G and Cope, Heidi and Spillmann, Rebecca C and Stong, Nicholas and Jiang, Yong-Hui and McDonald, Marie T and Rothman, Jennifer A and Butler, Megan W and Frush, Donald P and Lachman, Ralph S and Lee, Brendan and Bacino, Carlos A and Bonner, Melanie J and McCall, Chad M and Pendse, Avani A and Walley, Nicole and Undiagnosed Diseases Network and Shashi, Vandana and Pena, Loren D M. "Further evidence for the involvement of EFL1 in a Shwachman-Diamond-like syndrome and expansion of the phenotypic features." Molecular Case Studies. October, 2018.
Oláhová, Monika and Yoon, Wan Hee and Thompson, Kyle and Jangam, Sharayu and Fernandez, Liliana and Davidson, Jean M and Kyle, Jennifer E and Grove, Megan E and Fisk, Dianna G and Kohler, Jennefer N and Holmes, Matthew and Dries, Annika M and Huang, Yong and Zhao, Chunli and Contrepois, Kévin and Zappala, Zachary and Frésard, Laure and Waggott, Daryl and Zink, Erika M and Kim, Young-Mo and Heyman, Heino M and Stratton, Kelly G and Webb-Robertson, Bobbie-Jo M and Undiagnosed Diseases Network and Snyder, Michael and Merker, Jason D and Montgomery, Stephen B and Fisher, Paul G and Feichtinger, René G and Mayr, Johannes A and Hall, Julie and Barbosa, Ines A and Simpson, Michael A and Deshpande, Charu and Waters, Katrina M and Koeller, David M and Metz, Thomas O and Morris, Andrew A and Schelley, Susan and Cowan, Tina and Friederich, Marisa W and McFarland, Robert and Van Hove, Johan L K and Enns, Gregory M and Yamamoto, Shinya and Ashley, Euan A and Wangler, Michael F and Taylor, Robert W and Bellen, Hugo J and Bernstein, Jonathan A and Wheeler, Matthew T. "Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder." American Journal of Human Genetics. mar, 2018.
Marcogliese, Paul C and Shashi, Vandana and Spillmann, Rebecca C and Stong, Nicholas and Rosenfeld, Jill A and Koenig, Mary Kay and Martínez-Agosto, Julián A and Herzog, Matthew and Chen, Agnes H and Dickson, Patricia I and Lin, Henry J and Vera, Moin U and Salamon, Noriko and Graham, John M and Ortiz, Damara and Infante, Elena and Steyaert, Wouter and Dermaut, Bart and Poppe, Bruce and Chung, Hyung-Lok and Zuo, Zhongyuan and Lee, Pei-Tseng and Kanca, Oguz and Xia, Fan and Yang, Yaping and Smith, Edward C and Jasien, Joan and Kansagra, Sujay and Spiridigliozzi, Gail and El-Dairi, Mays and Lark, Robert and Riley, Kacie and Koeberl, Dwight D and Golden-Grant, Katie and Program for Undiagnosed Diseases (UD-PrOZA) and Undiagnosed Diseases Network and Yamamoto, Shinya and Wangler, Michael F and Mirzaa, Ghayda and Hemelsoet, Dimitri and Lee, Brendan and Nelson, Stanley F and Goldstein, David B and Bellen, Hugo J and Pena, Loren D M. "IRF2BPL Is Associated with Neurological Phenotypes." American Journal of Human Genetics. August, 2018.
Atkin, Talia A and Maher, Chani M and Gerlach, Aaron C and Gay, Bryant C and Antonio, Brett M and Santos, Sonia C and Padilla, Karen M and Rader, JulieAnn and Krafte, Douglas S and Fox, Matthew A and Stewart, Gregory R and Petrovski, Slavé and Devinsky, Orrin and Might, Matthew and Petrou, Steven and Goldstein, David B. "A comprehensive approach to identifying repurposed drugs to treat SCN8A epilepsy." Epilepsia. April, 2018.
Paper: [PDF] [Publisher]
Tran, Diem-Trang and Zhang, Tian and Stutsman, Ryan and Might, Matthew and Desai, Umesh R and Kuberan, Balagurunathan. "anexVis: visual analytics framework for analysis of RNA expression." Bioinformatics. July, 2018.
Owings, Katie G and Lowry, Joshua B and Bi, Yiling and Might, Matthew and Chow, Clement Y. "Transcriptome and functional analysis in a Drosophila model of NGLY1 deficiency provides insight into therapeutic approaches." Human Molecular Genetics. mar, 2018.
Paper: [Publisher PDF]
Pena, Loren D M and Jiang, Yong-Hui and Schoch, Kelly and Spillmann, Rebecca C and Walley, Nicole and Stong, Nicholas and Rapisardo Horn, Sarah and Sullivan, Jennifer A and McConkie-Rosell, Allyn and Kansagra, Sujay and Smith, Edward C and El-Dairi, Mays and Bellet, Jane and Keels, Martha Ann and Jasien, Joan and Kranz, Peter G and Noel, Richard and Nagaraj, Shashi K and Lark, Robert K and Wechsler, Daniel S G and Del Gaudio, Daniela and Leung, Marco L and Hendon, Laura G and Parker, Collette C and Jones, Kelly L and Undiagnosed Diseases Network Members and Goldstein, David B and Shashi, Vandana. "Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases." Genetics in Medicine. April, 2018.
Christopher Earl and Matthew Might and Abhishek Bagusetty and James C. Sutherland. "Nebo: An efficient, parallel, and portable domain-specific language for numerically solving partial differential equations." Journal of Systems and Software. January, 2017.
Bi, Yiling and Might, Matthew and Vankayalapati, Hariprasad and Kuberan, Balagurunathan. "Repurposing of Proton Pump Inhibitors as first identified small molecule inhibitors of endo-β-N-acetylglucosaminidase (ENGase) for the treatment of NGLY1 deficiency, a rare genetic disease." Bioorganic & Medicinal Chemistry Letters. July, 2017.
Paper: [PDF]
Chao, Hsiao-Tuan and Davids, Mariska and Burke, Elizabeth and Pappas, John G and Rosenfeld, Jill A and McCarty, Alexandra J and Davis, Taylor and Wolfe, Lynne and Toro, Camilo and Tifft, Cynthia and Xia, Fan and Stong, Nicholas and Johnson, Travis K and Warr, Coral G and Undiagnosed Diseases Network and Yamamoto, Shinya and Adams, David R and Markello, Thomas C and Gahl, William A and Bellen, Hugo J and Wangler, Michael F and Malicdan, May Christine V. "A syndromic neurodevelopmental disorder caused by de novo variants in EBF3." American Journal of Human Genetics. January, 2017.
Ramoni, Rachel B and Mulvihill, John J and Adams, David R and Allard, Patrick and Ashley, Euan A and Bernstein, Jonathan A and Gahl, William A and Hamid, Rizwan and Loscalzo, Joseph and McCray, Alexa T and Shashi, Vandana and Tifft, Cynthia J and Undiagnosed Diseases Network and Wise, Anastasia L. "The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease." American Journal of Human Genetics. February, 2017.
Wang, Julia and Al-Ouran, Rami and Hu, Yanhui and Kim, Seon-Young and Wan, Ying-Wooi and Wangler, Michael F and Yamamoto, Shinya and Chao, Hsiao-Tuan and Comjean, Aram and Mohr, Stephanie E and UDN and Perrimon, Norbert and Liu, Zhandong and Bellen, Hugo J. "MARRVEL: integration of human and model organism genetic resources to facilitate functional annotation of the human genome." American Journal of Human Genetics. June, 2017.
Schoch, Kelly and Meng, Linyan and Szelinger, Szabolcs and Bearden, David R and Stray-Pedersen, Asbjorg and Busk, Oyvind L and Stong, Nicholas and Liston, Eriskay and Cohn, Ronald D and Scaglia, Fernando and Rosenfeld, Jill A and Tarpinian, Jennifer and Skraban, Cara M and Deardorff, Matthew A and Friedman, Jeremy N and Akdemir, Zeynep Coban and Walley, Nicole and Mikati, Mohamad A and Kranz, Peter G and Jasien, Joan and McConkie-Rosell, Allyn and McDonald, Marie and Wechsler, Stephanie Burns and Freemark, Michael and Kansagra, Sujay and Freedman, Sharon and Bali, Deeksha and Millan, Francisca and Bale, Sherri and Nelson, Stanley F and Lee, Hane and Dorrani, Naghmeh and UCLA Clinical Genomics Center and Undiagnosed Diseases Network and Goldstein, David B and Xiao, Rui and Yang, Yaping and Posey, Jennifer E and Martinez-Agosto, Julian A and Lupski, James R and Wangler, Michael F and Shashi, Vandana. "A recurrent de novo variant in NACC1 causes a syndrome characterized by infantile epilepsy, cataracts, and profound developmental delay." American Journal of Human Genetics. February, 2017.
Fisher, Dakota and Hammer, Matthew A. and Byrd, William and Might, Matthew. "miniAdapton: A Minimal Implementation of Incremental Computation in Scheme." arXiv. September, 2016.
Shashi, Vandana and Pena, Loren D M and Kim, Katherine and Burton, Barbara and Hempel, Maja and Schoch, Kelly and Walkiewicz, Magdalena and McLaughlin, Heather M and Cho, Megan and Stong, Nicholas and Hickey, Scott E and Shuss, Christine M and Undiagnosed Diseases Network and Freemark, Michael S and Bellet, Jane S and Keels, Martha Ann and Bonner, Melanie J and El-Dairi, Maysantoine and Butler, Megan and Kranz, Peter G and Stumpel, Constance T R M and Klinkenberg, Sylvia and Oberndorff, Karin and Alawi, Malik and Santer, Rene and Petrovski, Slavé and Kuismin, Outi and Korpi-Heikkilä, Satu and Pietilainen, Olli and Aarno, Palotie and Kurki, Mitja I and Hoischen, Alexander and Need, Anna C and Goldstein, David B and Kortüm, Fanny. "De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype." American Journal of Human Genetics. October, 2016.
Lambertson, Katherine F. and Damiani, Stephen A. and Might, Matthew and Shelton, Robert and Terry, Sharon F. "Participant-Driven Matchmaking in the Genomic Era." Human Mutation. August, 2015.
Paper: [Publisher]
Might, Matthew and Wilsey, Matt. "The shifting model in clinical diagnostics: how next-generation sequencing and families are altering the way rare diseases are discovered, studied, and treated." Genetics in Medicine. October, 2014.
Paper: [PDF] [Publisher]
Johnson, J. Ian and Sergey, Ilya and Earl, Christopher and Might, Matthew and Van Horn, David. "Pushdown flow analysis with abstract garbage collection." Journal of Functional Programming. May, 2014.
Note: Invited to special issue on best papers of ICFP 2012.
Paper: [PDF] [Publisher]
Kimball Germane and Matthew Might. "Deletion: The curse of the red-black tree." Journal of Functional Programming. July, 2014.
Paper: [PDF] [Publisher]
Van Horn, David and Might, Matthew. "Systematic abstraction of abstract machines." Journal of Functional Programming. August, 2012.
Paper: [PDF] [Publisher] [arXiv]
Van Horn, David and Might, Matthew. "Abstracting Abstract Machines: A Systematic Approach to Higher-Order Program Analysis." Communications of the ACM. September, 2011.
Note: Selected as Research Highlight.
Paper: [PDF] [Publisher] [arXiv]
Matthew Might and Olin Shivers. "Exploiting reachability and cardinality in higher-order flow analysis." Journal of Functional Programming. August, 2008.
Paper: [PDF]
Matthew Might and Olin Shivers. "Analyzing the environment structure of higher-order languages using frame strings." Theoretical Computer Science. May, 2007.
Note: Festschrift for John C. Reynold's 70th birthday.
Paper: [PDF]

Government policy whitepapers

Dixie Baker, Matthew Might, Pearl O'Rourke, Laura Lyman Rodriguez, Tania Simoncelli, John Wilbanks. "Participant Engagement, Data Privacy, and Novel Ways of Returning Information to Participants." NIH Precision Medicine Working Group, NIH Large Cohort Precision Medicine Workshop. 11 Feb 2015. Bethesda, Maryland.
[pdf]

Dissertation

Matthew Might. "Environment Analysis of Higher-Order Languages." Ph.D. Dissertation. Georgia Institute of Technology. 2007.
Paper: [pdf] [bib]
Slides: [pdf]

@PhdThesis{might2007diss,
  author =       {Matthew Might},
  title =        {Environment Analysis of Higher-Order Languages},
  school =       {Georgia Institute of Technology},
  year =         {2007},
  month =        {June}
}