David Wenger

TitleProfessor
InstitutionThomas Jefferson University
DepartmentNeurology
Address1020 Locust St.
Philadelphia PA 19107
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    In addition to research related to specific genetic diseases, such as Krabbe disease and Niemann-Pick type C, Dr. Wenger directs the largest lysosomal storage diseases (LSD) testing laboratory in the world. LSD are a group of genetic disorders cause by mutations in genes that code for proteins required for the lysosomal catabolism of naturally occurring carbohydrates, proteins, and lipids. About 35 such disorders have been defined and over 20 are diagnosed in this laboratory. Samples are sent to this laboratory from around the world for help in diagnosing a patient with certain symptoms, for carrier testing and for prenatal testing. Most diagnostic tests are enzyme-based but others require the use of specific antibodies, tissue extraction, radio-labelled lipid loading or molecular analysis for known mutations. The experience of the research laboratory is brought to diagnostic laboratory in the form of new test development, and interesting patients can be studied in the research laboratory to help answer important questions regarding protein structure and function.

    ACADEMIC APPOINTMENTS (1997-present):

    Jefferson Medical College, Philadelphia, PA. September 1986 - November 1998, Professor of Medicine (Medical Genetics), and Biochemistry and Molecular Pharmacology

    Director, Lysosomal Diseases Testing Laboratory. 1974-present

    OTHER ACTIVITIES (1997-present)

    Scientific Advisory Committee of the National Tay-Sachs and Allied Diseases Association

    Advisor - United Leukodystrophy Foundation, Inc.

    Editorial Board of Molecular Genetics and Metabolism (1991-present)

    Scientific Advisory Board of the National Mucopolysaccharidosis Society

    Scientific/Medical Advisory Committee of the Canavan Disease Foundation

    Program Committee-American Society of Human Genetics (1994-1997)

    NIH Board of Scientific Counselors; review of Intramural Research Programs at NIH, October 1997

    Working Group of NIGMS Human Genetic Cell Repository, 2001-2004


    Collapse Research 
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    P01HD008315     (GOODMAN, STEPHEN IRWIN)Apr 1, 1979 - Apr 30, 2006
    NIH
    GENETIC BIOCHEMICAL DISORDERS IN MENTAL RETARDATION
    Role: Co-Principal Investigator

    R01DK033170     (WENGER, DAVID A)Dec 1, 1983 - Aug 31, 1986
    NIH
    GENETIC AND BIOCHEMICAL STUDIES ON KRABBE'S DISEASE
    Role: Principal Investigator

    R01AM033170     (WENGER, DAVID A)Dec 1, 1983 - Nov 30, 1986
    NIH
    GENETIC AND BIOCHEMICAL STUDIES ON KRABBE'S DISEASE
    Role: Principal Investigator

    R55DK038795     (WENGER, DAVID A)Sep 1, 1986 - Mar 31, 1993
    NIH
    GENETIC AND BIOCHEMICAL STUDIES ON KRABBE DISEASE
    Role: Principal Investigator

    R01DK038795     (WENGER, DAVID A)Sep 1, 1986 - Feb 28, 2011
    NIH
    Krabbe disease: Combined therapies for the central and peripheral nervous systems
    Role: Principal Investigator

    Collapse Bibliographic 
    Collapse selected publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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    1. Thompson-Stone R, Ream MA, Gelb M, Matern D, Orsini JJ, Levy PA, Rubin JP, Wenger DA, Burton BK, Escolar ML, Kurtzberg J. Consensus recommendations for the classification and long-term follow up of infants who screen positive for Krabbe Disease. Mol Genet Metab. 2021 Apr 03. PMID: 33832819.
      Citations:    
    2. Rafi MA, Luzi P, Wenger DA. Can early treatment of twitcher mice with high dose AAVrh10-GALC eliminate the need for BMT? Bioimpacts. 2021; 11(2):135-146. PMID: 33842284.
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    3. Lee JP, Zhang R, Yan M, Duggineni S, Wakeman DR, Niles WL, Feng Y, Chen J, Hamblin MH, Han EB, Gonzalez R, Fang X, Zhu Y, Wang J, Xu Y, Wenger DA, Seyfried TN, An J, Sidman RL, Huang Z, Snyder EY. Chemical mutagenesis of a GPCR ligand: Detoxifying "inflammo-attraction" to direct therapeutic stem cell migration. Proc Natl Acad Sci U S A. 2020 12 08; 117(49):31177-31188. PMID: 33219123.
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    4. Wenger DA, Luzi P. The Lysosomal Diseases Testing Laboratory: A review of the past 47?years. JIMD Rep. 2020 Jul; 54(1):61-67. PMID: 32685352.
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    5. Rafi MA, Luzi P, Wenger DA. Conditions for combining gene therapy with bone marrow transplantation in murine Krabbe disease. Bioimpacts. 2020; 10(2):105-115. PMID: 32363154.
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    6. Al-Kouatly HB, Felder L, Makhamreh MM, Kass SL, Vora NL, Berghella V, Berger S, Wenger DA, Luzi P. Lysosomal storage disease spectrum in nonimmune hydrops fetalis: a retrospective case control study. Prenat Diagn. 2020 Mar 05. PMID: 32134517.
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    7. Calderwood L, Wenger DA, Matern D, Dahmoush H, Watiker V, Lee C. Rare Saposin A deficiency: Novel variant and psychosine analysis. Mol Genet Metab. 2019 Aug 05. PMID: 31439510.
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    8. Lund TC, Miller WP, Eisengart JB, Simmons K, Pollard L, Renaud DL, Wenger DA, Patterson MC, Orchard PJ. Biochemical and clinical response after umbilical cord blood transplant in a boy with early childhood-onset beta-mannosidosis. Mol Genet Genomic Med. 2019 Jul; 7(7):e00712. PMID: 31115173.
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    9. Doherty K, Frazier SB, Clark M, Childers A, Pruthi S, Wenger DA, Duis J. A closer look at ARSA activity in a patient with metachromatic leukodystrophy. Mol Genet Metab Rep. 2019 Jun; 19:100460. PMID: 30828547.
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    10. Beltran-Quintero ML, Bascou NA, Poe MD, Wenger DA, Saavedra-Matiz CA, Nichols MJ, Escolar ML. Early progression of Krabbe disease in patients with symptom onset between 0 and 5?months. Orphanet J Rare Dis. 2019 02 18; 14(1):46. PMID: 30777126.
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    11. Kwon JM, Matern D, Kurtzberg J, Wrabetz L, Gelb MH, Wenger DA, Ficicioglu C, Waldman AT, Burton BK, Hopkins PV, Orsini JJ. Consensus guidelines for newborn screening, diagnosis and treatment of infantile Krabbe disease. Orphanet J Rare Dis. 2018 Feb 01; 13(1):30. PMID: 29391017.
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    12. Bradbury AM, Rafi MA, Bagel J, Brisson BK, Marshall MS, Pesayco Salvador J, Jiang X, Swain GP, Prociuk ML, O'Donnell P, Fitzgerald C, Ory DS, Bongarzone ER, Shelton GD, Wenger DA, Vite C. AAVrh10 gene therapy ameliorates central and peripheral nervous system disease in canine globoid cell leukodystrophy (Krabbe disease). Hum Gene Ther. 2018 Jan 09. PMID: 29316812.
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    13. Saavedra-Matiz CA, Luzi P, Nichols M, Orsini JJ, Caggana M, Wenger DA. Expression of individual mutations and haplotypes in the galactocerebrosidase gene identified by the newborn screening program in New York State and in confirmed cases of Krabbe's disease. J Neurosci Res. 2016 Nov; 94(11):1076-83. PMID: 27638593.
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    14. Wenger DA, Rafi MA, Luzi P. Krabbe disease: One Hundred years from the bedside to the bench to the bedside. J Neurosci Res. 2016 Nov; 94(11):982-9. PMID: 27638583.
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    15. Wasserstein MP, Andriola M, Arnold G, Aron A, Duffner P, Erbe RW, Escolar ML, Estrella L, Galvin-Parton P, Iglesias A, Kay DM, Kronn DF, Kurtzberg J, Kwon JM, Langan TJ, Levy PA, Naidich TP, Orsini JJ, Pellegrino JE, Provenzale JM, Wenger DA, Caggana M. Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State. Genet Med. 2016 Dec; 18(12):1235-1243. PMID: 27171547.
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    16. Orsini JJ, Kay DM, Saavedra-Matiz CA, Wenger DA, Duffner PK, Erbe RW, Biski C, Martin M, Krein LM, Nichols M, Kurtzberg J, Escolar ML, Adams DJ, Arnold GL, Iglesias A, Galvin-Parton P, Kronn DF, Kwon JM, Levy PA, Pellegrino JE, Shur N, Wasserstein MP, Caggana M. Newborn screening for Krabbe disease in New York State: the first eight years' experience. Genet Med. 2016 Mar; 18(3):239-48. PMID: 26795590.
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    17. Miskin C, Melvin JJ, Legido A, Wenger DA, Harasink SM, Khurana DS. A Patient With Atypical Multiple Sulfatase Deficiency. Pediatr Neurol. 2016 Apr; 57:98-100. PMID: 26825355.
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    18. Rafi MA, Rao HZ, Luzi P, Wenger DA. Long-term Improvements in Lifespan and Pathology in CNS and PNS After BMT Plus One Intravenous Injection of AAVrh10-GALC in Twitcher Mice. Mol Ther. 2015 Nov; 23(11):1681-90. PMID: 26329589.
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    19. Kurtzberg J, Buntz S, Gentry T, Noeldner P, Ozamiz A, Rusche B, Storms RW, Wollish A, Wenger DA, Balber AE. Reprint of: Preclinical characterization of DUOC-01, a cell therapy product derived from banked umbilical cord blood for use as an adjuvant to umbilical cord blood transplantation for treatment of inherited metabolic diseases. Cytotherapy. 2015 Sep; 17(9):1314-26. PMID: 26276011.
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    20. Matthes F, Andersson C, Stein A, Eistrup C, Fogh J, Gieselmann V, Wenger DA, Matzner U. Enzyme replacement therapy of a novel humanized mouse model of globoid cell leukodystrophy. Exp Neurol. 2015 Sep; 271:36-45. PMID: 25956830.
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    21. Wisdom JP, Wenger D, Robertson D, Van Bramer J, Sederer LI. The New York State Office of Mental Health Positive Alternatives to Restraint and Seclusion (PARS) Project. Psychiatr Serv. 2015 Aug 1; 66(8):851-6. PMID: 25930039.
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    22. Kurtzberg J, Buntz S, Gentry T, Noeldner P, Ozamiz A, Rusche B, Storms RW, Wollish A, Wenger DA, Balber AE. Preclinical characterization of DUOC-01, a cell therapy product derived from banked umbilical cord blood for use as an adjuvant to umbilical cord blood transplantation for treatment of inherited metabolic diseases. Cytotherapy. 2015 Jun; 17(6):803-15. PMID: 25770677.
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    23. Rafi MA, Rao HZ, Luzi P, Luddi A, Curtis MT, Wenger DA. Intravenous injection of AAVrh10-GALC after the neonatal period in twitcher mice results in significant expression in the central and peripheral nervous systems and improvement of clinical features. Mol Genet Metab. 2015 Mar; 114(3):459-66. PMID: 25533112.
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    24. Biela-Banas A, Oulaïdi F, Front S, Gallienne E, Ikeda-Obatake K, Asano N, Wenger DA, Martin OR. Iminosugar-Based Galactoside Mimics as Inhibitors of Galactocerebrosidase: SAR Studies and Comparison with Other Lysosomal Galactosidases. ChemMedChem. 2014 Dec; 9(12):2647-52. PMID: 25377381.
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    25. Wenger DA, Luzi P, Rafi MA. Krabbe disease: Are certain mutations disease-causing only when specific polymorphisms are present or when inherited in trans with specific second mutations? Mol Genet Metab. 2014 Mar; 111(3):307-8. PMID: 24388568.
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    26. Wenger DA, Luzi P, Rafi MA. Lysosomal storage diseases: heterogeneous group of disorders. Bioimpacts. 2013; 3(4):145-7. PMID: 24455477.
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    27. Luzi P, Rafi MA, Rao HZ, Wenger DA. Sixteen novel mutations in the arylsulfatase A gene causing metachromatic leukodystrophy. Gene. 2013 Nov 10; 530(2):323-8. PMID: 24001781.
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    28. Chuang WL, Pacheco J, Zhang XK, Martin MM, Biski CK, Keutzer JM, Wenger DA, Caggana M, Orsini JJ. Determination of psychosine concentration in dried blood spots from newborns that were identified via newborn screening to be at risk for Krabbe disease. Clin Chim Acta. 2013 Apr 18; 419:73-6. PMID: 23419961.
      Citations:    
    29. Sanders DN, Zeng R, Wenger DA, Johnson GS, Johnson GC, Decker JE, Katz ML, Platt SR, O'Brien DP. GM2 gangliosidosis associated with a HEXA missense mutation in Japanese Chin dogs: A potential model for Tay Sachs disease. Mol Genet Metab. 2013 Jan; 108(1):70-5. PMID: 23266199.
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    30. Rafi MA, Rao HZ, Luzi P, Curtis MT, Wenger DA. Extended Normal Life After AAVrh10-mediated Gene Therapy in the Mouse Model of Krabbe Disease. Mol Ther. 2012 Nov; 20(11):2031-42. PMID: 22850681.
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    31. Van der Knaap MS, Wenger DA. Patient with unilateral white matter involvement does not have Krabbe disease. Arch Neurol. 2011 Oct; 68(10):1345. PMID: 21987556.
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    32. Mahmood A, Berry J, Wenger DA, Escolar M, Sobeih M, Raymond G, Eichler FS. Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature. J Child Neurol. 2010 May; 25(5):572-80. PMID: 20038527.
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    33. Luzi P, Abraham RM, Rafi MA, Curtis M, Hooper DC, Wenger DA. Effects of treatments on inflammatory and apoptotic markers in the CNS of mice with globoid cell leukodystrophy. Brain Res. 2009 Dec 1; 1300:146-58. PMID: 19748497.
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    34. Duffner PK, Caviness VS, Erbe RW, Patterson MC, Schultz KR, Wenger DA, Whitley C. The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York. Genet Med. 2009 Jun; 11(6):450-4. PMID: 19346954.
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    35. Duffner PK, Caggana M, Orsini JJ, Wenger DA, Patterson MC, Crosley CJ, Kurtzberg J, Arnold GL, Escolar ML, Adams DJ, Andriola MR, Aron AM, Ciafaloni E, Djukic A, Erbe RW, Galvin-Parton P, Helton LE, Kolodny EH, Kosofsky BE, Kronn DF, Kwon JM, Levy PA, Miller-Horn J, Naidich TP, Pellegrino JE, Provenzale JM, Rothman SJ, Wasserstein MP. Newborn screening for Krabbe disease: the New York State model. Pediatr Neurol. 2009 Apr; 40(4):245-52; discussion 253-5. PMID: 19302934.
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    36. Strazza M, Luddi A, Carbone M, Rafi MA, Costantino-Ceccarini E, Wenger DA. Significant correction of pathology in brains of twitcher mice following injection of genetically modified mouse neural progenitor cells. Mol Genet Metab. 2009 May; 97(1):27-34. PMID: 19217332.
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    37. Brunetti-Pierri N, Bhattacharjee MB, Wang ZJ. Brain proton magnetic resonance spectroscopy and neuromuscular pathology in a patient with GM1 gangliosidosis. J Child Neurol. 2008 Jan; 23(1):73-8. PMID: 18184943.
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    38. Lissens W, Arena A, Seneca S, Rafi M, Sorge G, Liebaers I, Wenger D, Fiumara A. A single mutation in the GALC gene is responsible for the majority of late onset Krabbe disease patients in the Catania (Sicily, Italy) region. Hum Mutat. 2007 Jul; 28(7):742. PMID: 17579360.
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    39. Lee JP, Jeyakumar M, Gonzalez R, Takahashi H, Lee PJ, Baek RC, Clark D, Rose H, Fu G, Clarke J, McKercher S, Meerloo J, Muller FJ, Park KI, Butters TD, Dwek RA, Schwartz P, Tong G, Wenger D, Lipton SA, Seyfried TN, Platt FM, Snyder EY. Stem cells act through multiple mechanisms to benefit mice with neurodegenerative metabolic disease. Nat Med. 2007 Apr; 13(4):439-47. PMID: 17351625.
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    40. Taylor RM, Lee JP, Palacino JJ, Bower KA, Li J, Vanier MT, Wenger DA, Sidman RL, Snyder EY. Intrinsic resistance of neural stem cells to toxic metabolites may make them well suited for cell non-autonomous disorders: evidence from a mouse model of Krabbe leukodystrophy. J Neurochem. 2006 Jun; 97(6):1585-99. PMID: 16805770.
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    41. Kondo Y, Wenger DA, Gallo V, Duncan ID. Galactocerebrosidase-deficient oligodendrocytes maintain stable central myelin by exogenous replacement of the missing enzyme in mice. Proc Natl Acad Sci U S A. 2005 Dec 20; 102(51):18670-5. PMID: 16352725.
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    42. Zaka M, Rafi MA, Rao HZ, Luzi P, Wenger DA. Insulin-like growth factor-1 provides protection against psychosine-induced apoptosis in cultured mouse oligodendrocyte progenitor cells using primarily the PI3K/Akt pathway. Mol Cell Neurosci. 2005 Nov; 30(3):398-407. PMID: 16169744.
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    43. Lin D, Fantz CR, Levy B, Rafi MA, Vogler C, Wenger DA, Sands MS. AAV2/5 vector expressing galactocerebrosidase ameliorates CNS disease in the murine model of globoid-cell leukodystrophy more efficiently than AAV2. Mol Ther. 2005 Sep; 12(3):422-30. PMID: 15996520.
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    44. Luzi P, Rafi MA, Zaka M, Rao HZ, Curtis M, Vanier MT, Wenger DA. Biochemical and pathological evaluation of long-lived mice with globoid cell leukodystrophy after bone marrow transplantation. Mol Genet Metab. 2005 Sep-Oct; 86(1-2):150-9. PMID: 16169269.
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    45. Wilcox WR, Wenger DA, Lachman RS, Rimoin DL. Distinguishing Pacman dysplasia from mucolipidosis II: comment on Saul et al. [2005]. Am J Med Genet A. 2005 Jun 15; 135(3):333. PMID: 15887286.
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    46. Escolar ML, Poe MD, Provenzale JM, Richards KC, Allison J, Wood S, Wenger DA, Pietryga D, Wall D, Champagne M, Morse R, Krivit W, Kurtzberg J. Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease. N Engl J Med. 2005 May 19; 352(20):2069-81. PMID: 15901860.
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    47. Rafi MA, Zhi Rao H, Passini MA, Curtis M, Vanier MT, Zaka M, Luzi P, Wolfe JH, Wenger DA. AAV-mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy. Mol Ther. 2005 May; 11(5):734-44. PMID: 15851012.
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    48. Kleta R, Morse RP, Orvisky E, Krasnewich D, Alroy J, Ucci AA, Bernardini I, Wenger DA, Gahl WA. Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity. Mol Genet Metab. 2004 Jun; 82(2):137-43. PMID: 15172001.
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    49. Staba SL, Escolar ML, Poe M, Kim Y, Martin PL, Szabolcs P, Allison-Thacker J, Wood S, Wenger DA, Rubinstein P, Hopwood JJ, Krivit W, Kurtzberg J. Cord-blood transplants from unrelated donors in patients with Hurler's syndrome. N Engl J Med. 2004 May 6; 350(19):1960-9. PMID: 15128896.
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    50. Luzi P, Zaka M, Rao HZ, Curtis M, Rafi MA, Wenger DA. Generation of transgenic mice expressing insulin-like growth factor-1 under the control of the myelin basic protein promoter: increased myelination and potential for studies on the effects of increased IGF-1 on experimentally and genetically induced demyelination. Neurochem Res. 2004 May; 29(5):881-9. PMID: 15139287.
      Citations:    
    51. Grewal SS, Shapiro EG, Krivit W, Charnas L, Lockman LA, Delaney KA, Davies SM, Wenger DA, Rimell FL, Abel S, Grovas AC, Orchard PJ, Wagner JE, Peters C. Effective treatment of alpha-mannosidosis by allogeneic hematopoietic stem cell transplantation. J Pediatr. 2004 May; 144(5):569-73. PMID: 15126988.
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    52. Zaka M, Wenger DA. Psychosine-induced apoptosis in a mouse oligodendrocyte progenitor cell line is mediated by caspase activation. Neurosci Lett. 2004 Apr 1; 358(3):205-9. PMID: 15039117.
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    53. Parveen Z, Mukhtar M, Rafi M, Wenger DA, Siddiqui KM, Siler CA, Dietzschold B, Pomerantz RJ, Schnell MJ, Dornburg R. Cell-type-specific gene delivery into neuronal cells in vitro and in vivo. Virology. 2003 Sep 15; 314(1):74-83. PMID: 14517061.
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    54. Rafi MA, Coppola S, Liu SL, Rao HZ, Wenger DA. Disease-causing mutations in cis with the common arylsulfatase A pseudodeficiency allele compound the difficulties in accurately identifying patients and carriers of metachromatic leukodystrophy. Mol Genet Metab. 2003 Jun; 79(2):83-90. PMID: 12809637.
      Citations:    
    55. Somers KL, Royals MA, Carstea ED, Rafi MA, Wenger DA, Thrall MA. Mutation analysis of feline Niemann-Pick C1 disease. Mol Genet Metab. 2003 Jun; 79(2):99-103. PMID: 12809639.
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    56. Wenger DA, Coppola S, Liu SL. Insights into the diagnosis and treatment of lysosomal storage diseases. Arch Neurol. 2003 Mar; 60(3):322-8. PMID: 12633142.
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    57. Chattopadhyay S, Kriscenski-Perry E, Wenger DA, Pearce DA. An autoantibody to GAD65 in sera of patients with juvenile neuronal ceroid lipofuscinoses. Neurology. 2002 Dec 10; 59(11):1816-7. PMID: 12473787.
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    58. Wenger DA, Coppola S, Liu SL. Lysosomal storage disorders: diagnostic dilemmas and prospects for therapy. Genet Med. 2002 Nov-Dec; 4(6):412-9. PMID: 12509711.
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    59. Yerushalmi B, Sokol RJ, Narkewicz MR, Smith D, Ashmead JW, Wenger DA. Niemann-pick disease type C in neonatal cholestasis at a North American Center. J Pediatr Gastroenterol Nutr. 2002 Jul; 35(1):44-50. PMID: 12142809.
      Citations:    
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