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Elise Heon

TitleStaff, Clinician Scientist, Surgeon
InstitutionThe Hospital for Sick Children
DepartmentOphthalmology
Address555 University Avenue
Toronto ON M5G 1X8
Phone416-813-1500
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    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. Charng J, Cideciyan AV, Jacobson SG, Sumaroka A, Schwartz SB, Swider M, Roman AJ, Sheplock R, Anand M, Peden MC, Khanna H, Heon E, Wright AF, Swaroop A. Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration. Hum Mol Genet. 2019 Jan 01; 28(1):175. PMID: 30285110.
      View in: PubMed
    2. Scott BM, Chen SK, Bhattacharyya N, Moalim AY, Plotnikov SV, Heon E, Peisajovich SG, Chang BSW. Coupling of Human Rhodopsin to a Yeast Signaling Pathway Enables Characterization of Mutations Associated with Retinal Disease. Genetics. 2019 02; 211(2):597-615. PMID: 30514708.
      View in: PubMed
    3. Cideciyan AV, Charng J, Roman AJ, Sheplock R, Garafalo AV, Heon E, Jacobson SG. Progression in X-linked Retinitis Pigmentosa Due to ORF15-RPGR Mutations: Assessment of Localized Vision Changes Over 2 Years. Invest Ophthalmol Vis Sci. 2018 Sep 04; 59(11):4558-4566. PMID: 30208424.
      View in: PubMed
    4. Calzetti G, Levy RA, Cideciyan AV, Garafalo AV, Roman AJ, Sumaroka A, Charng J, Heon E, Jacobson SG. Efficacy Outcome Measures for Clinical Trials of USH2A Caused by the Common c.2299delG Mutation. Am J Ophthalmol. 2018 Sep; 193:114-129. PMID: 29953849.
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    5. Hirji N, Bradley PD, Li S, Vincent A, Pennesi ME, Thomas AS, Heon E, Bhan A, Mahroo OA, Robson A, Inglehearn CF, Moore AT, Michaelides M. Jalili Syndrome: Cross-sectional and Longitudinal Features of Seven Patients With Cone-Rod Dystrophy and Amelogenesis Imperfecta. Am J Ophthalmol. 2018 04; 188:123-130. PMID: 29421294.
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    6. Stäubli A, Capatina N, Fuhrer Y, Munier FL, Labs S, Schorderet DF, Tiwari A, Verrey F, Heon E, Cheng CY, Wong TY, Berger W, Camargo SMR, Kloeckener-Gruissem B. Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147. Hum Mol Genet. 2017 11 01; 26(21):4203-4214. PMID: 29088427.
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    7. Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC, Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genet Med. 2018 04; 20(4):435-443. PMID: 28771251.
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    8. Gerth-Kahlert C, Tiwari A, Hanson JVM, Batmanabane V, Traboulsi E, Pennesi ME, Al-Qahtani AA, Lam BL, Heckenlively J, Zweifel SA, Vincent A, Fierz F, Barthelmes D, Branham K, Khan N, Bahr A, Baehr L, Magyar I, Koller S, Azzarello-Burri S, Niedrist D, Heon E, Berger W. C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations. Invest Ophthalmol Vis Sci. 2017 08 01; 58(10):3840-3850. PMID: 28763557.
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    9. Chaudhry A, Chung BH, Stavropoulos DJ, Araya MP, Ali A, Heon E, Chitayat D. Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion. Am J Med Genet A. 2017 Sep; 173(9):2467-2471. PMID: 28742278.
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    10. McGuigan DB, Heon E, Cideciyan AV, Ratnapriya R, Lu M, Sumaroka A, Roman AJ, Batmanabane V, Garafalo AV, Stone EM, Swaroop A, Jacobson SG. EYS Mutations Causing Autosomal Recessive Retinitis Pigmentosa: Changes of Retinal Structure and Function with Disease Progression. Genes (Basel). 2017 Jul 12; 8(7). PMID: 28704921.
      View in: PubMed
    11. Ku CA, Hull S, Arno G, Vincent A, Carss K, Kayton R, Weeks D, Anderson GW, Geraets R, Parker C, Pearce DA, Michaelides M, MacLaren RE, Robson AG, Holder GE, Heon E, Raymond FL, Moore AT, Webster AR, Pennesi ME. Detailed Clinical Phenotype and Molecular Genetic Findings in CLN3-Associated Isolated Retinal Degeneration. JAMA Ophthalmol. 2017 07 01; 135(7):749-760. PMID: 28542676.
      View in: PubMed
    12. Charng J, Jacobson SG, Heon E, Roman AJ, McGuigan DB, Sheplock R, Kosyk MS, Swider M, Cideciyan AV. Pupillary Light Reflexes in Severe Photoreceptor Blindness Isolate the Melanopic Component of Intrinsically Photosensitive Retinal Ganglion Cells. Invest Ophthalmol Vis Sci. 2017 06 01; 58(7):3215-3224. PMID: 28660274.
      View in: PubMed
    13. Jacobson SG, Cideciyan AV, Sumaroka A, Roman AJ, Charng J, Lu M, Choudhury S, Schwartz SB, Heon E, Fishman GA, Boye SE. Defining Outcomes for Clinical Trials of Leber Congenital Amaurosis Caused by GUCY2D Mutations. Am J Ophthalmol. 2017 May; 177:44-57. PMID: 28212877.
      View in: PubMed
    14. Dhanraj S, Matveev A, Li H, Lauhasurayotin S, Jardine L, Cada M, Zlateska B, Tailor CS, Zhou J, Mendoza-Londono R, Vincent A, Durie PR, Scherer SW, Rommens JM, Heon E, Dror Y. Biallelic mutations in DNAJC21 cause Shwachman-Diamond syndrome. Blood. 2017 03 16; 129(11):1557-1562. PMID: 28062395.
      View in: PubMed
    15. Chung DD, Frausto RF, Cervantes AE, Gee KM, Zakharevich M, Hanser EM, Stone EM, Heon E, Aldave AJ. Confirmation of the OVOL2 Promoter Mutation c.-307T>C in Posterior Polymorphous Corneal Dystrophy 1. PLoS One. 2017; 12(1):e0169215. PMID: 28046031.
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    16. Charng J, Cideciyan AV, Jacobson SG, Sumaroka A, Schwartz SB, Swider M, Roman AJ, Sheplock R, Anand M, Peden MC, Khanna H, Heon E, Wright AF, Swaroop A. Variegated yet non-random rod and cone photoreceptor disease patterns in RPGR-ORF15-associated retinal degeneration. Hum Mol Genet. 2016 12 15; 25(24):5444-5459. PMID: 27798110.
      View in: PubMed
    17. Batmanabane V, Heon E, Dai T, Muthusami P, Chen S, Reginald A, Radhakrishnan S, Shroff M. The role of MR imaging in investigating isolated pediatric nystagmus. Pediatr Radiol. 2016 Nov; 46(12):1721-1727. PMID: 27518079.
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    18. Oyewumi M, Wolter NE, Heon E, Gordon KA, Papsin BC, Cushing SL. Using Balance Function to Screen for Vestibular Impairment in Children With Sensorineural Hearing Loss and Cochlear Implants. Otol Neurotol. 2016 08; 37(7):926-32. PMID: 27228014.
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    19. Soliman SE, Wan MJ, Heon E, Hazrati LN, Gallie B. Retinoblastoma versus advanced Coats' disease: Is enucleation the answer? Ophthalmic Genet. 2017 May-Jun; 38(3):291-293. PMID: 27435805.
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    20. Heon E, Alabduljalil T, McGuigan III DB, Cideciyan AV, Li S, Chen S, Jacobson SG. Visual Function and Central Retinal Structure in Choroideremia. Invest Ophthalmol Vis Sci. 2016 07 01; 57(9):OCT377-87. PMID: 27409497.
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    21. Heon E, Kim G, Qin S, Garrison JE, Tavares E, Vincent A, Nuangchamnong N, Scott CA, Slusarski DC, Sheffield VC. Mutations in C8ORF37 cause Bardet Biedl syndrome (BBS21). Hum Mol Genet. 2016 06 01; 25(11):2283-2294. PMID: 27008867.
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    22. Orrell K, Yankanah R, Heon E, Wright JG. A small grant funding program to promote innovation at an academic research hospital. Can J Surg. 2015 Oct; 58(5):294-5. PMID: 26384144; PMCID: PMC4599988.
    23. Sawyer SL, Hartley T, Dyment DA, Beaulieu CL, Schwartzentruber J, Smith A, Bedford HM, Bernard G, Bernier FP, Brais B, Bulman DE, Warman Chardon J, Chitayat D, Deladoëy J, Fernandez BA, Frosk P, Geraghty MT, Gerull B, Gibson W, Gow RM, Graham GE, Green JS, Heon E, Horvath G, Innes AM, Jabado N, Kim RH, Koenekoop RK, Khan A, Lehmann OJ, Mendoza-Londono R, Michaud JL, Nikkel SM, Penney LS, Polychronakos C, Richer J, Rouleau GA, Samuels ME, Siu VM, Suchowersky O, Tarnopolsky MA, Yoon G, Zahir FR, Majewski J, Boycott KM. Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care. Clin Genet. 2016 Mar; 89(3):275-84. PMID: 26283276.
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    24. Heon EK, Wulan H, Macdonald LP, Malek AO, Braunstein GH, Eaves CG, Schattner MD, Allen PM, Alexander MO, Hawkins CA, McGovern DW, Freeman RL, Amir EP, Huse JD, Zaltzman JS, Kauff NP, Meyers PG, Gleason MH, Overholtzer MG, Wiseman SS, Streutker CD, Asa SW, McAlindon TP, Newcomb PO, Sorensen PM, Press OA. IL-15 induces strong but short-lived tumor-infiltrating CD8 T cell responses through the regulation of Tim-3 in breast cancer. Biochem Biophys Res Commun. 2015 Aug 14; 464(1):360-6. PMID: 26141233.
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    25. Jacobson SG, Cideciyan AV, Roman AJ, Sumaroka A, Schwartz SB, Heon E, Hauswirth WW. Improvement and decline in vision with gene therapy in childhood blindness. N Engl J Med. 2015 May 14; 372(20):1920-6. PMID: 25936984; PMCID: PMC4450362.
    26. Al-Maawali A, Dupuis L, Blaser S, Heon E, Tarnopolsky M, Al-Murshedi F, Marshall CR, Paton T, Scherer SW, Roelofsen J, van Kuilenburg AB, Mendoza-Londono R. Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders. Eur J Hum Genet. 2015 Mar; 23(3):310-6. PMID: 24961627; PMCID: PMC4326708.
    27. Roman AJ, Cideciyan AV, Schwartz SB, Olivares MB, Heon E, Jacobson SG. Intervisit variability of visual parameters in Leber congenital amaurosis caused by RPE65 mutations. Invest Ophthalmol Vis Sci. 2013 Feb 15; 54(2):1378-83. PMID: 23341016; PMCID: PMC3597193.
    28. Rootman DB, Gonzalez E, Mallipatna A, Vandenhoven C, Hampton L, Dimaras H, Chan HS, Gallie BL, Heon E. Hand-held high-resolution spectral domain optical coherence tomography in retinoblastoma: clinical and morphologic considerations. Br J Ophthalmol. 2013 Jan; 97(1):59-65. PMID: 23104902.
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    29. Jacobson SG, Cideciyan AV, Peshenko IV, Sumaroka A, Olshevskaya EV, Cao L, Schwartz SB, Roman AJ, Olivares MB, Sadigh S, Yau KW, Heon E, Stone EM, Dizhoor AM. Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants. Hum Mol Genet. 2013 Jan 01; 22(1):168-83. PMID: 23035049; PMCID: PMC3606011.
    30. Chiang PW, Wang J, Chen Y, Fu Q, Zhong J, Chen Y, Yi X, Wu R, Gan H, Shi Y, Chen Y, Barnett C, Wheaton D, Day M, Sutherland J, Heon E, Weleber RG, Gabriel LA, Cong P, Chuang K, Ye S, Sallum JM, Qi M. Exome sequencing identifies NMNAT1 mutations as a cause of Leber congenital amaurosis. Nat Genet. 2012 Sep; 44(9):972-4. PMID: 22842231.
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    31. Jacobson SG, Cideciyan AV, Ratnakaram R, Heon E, Schwartz SB, Roman AJ, Peden MC, Aleman TS, Boye SL, Sumaroka A, Conlon TJ, Calcedo R, Pang JJ, Erger KE, Olivares MB, Mullins CL, Swider M, Kaushal S, Feuer WJ, Iannaccone A, Fishman GA, Stone EM, Byrne BJ, Hauswirth WW. Gene therapy for leber congenital amaurosis caused by RPE65 mutations: safety and efficacy in 15 children and adults followed up to 3 years. Arch Ophthalmol. 2012 Jan; 130(1):9-24. PMID: 21911650; PMCID: PMC3600816.
    32. Walia S, Fishman GA, Jacobson SG, Aleman TS, Koenekoop RK, Traboulsi EI, Weleber RG, Pennesi ME, Heon E, Drack A, Lam BL, Allikmets R, Stone EM. Visual acuity in patients with Leber's congenital amaurosis and early childhood-onset retinitis pigmentosa. Ophthalmology. 2010 Jun; 117(6):1190-8. PMID: 20079931.
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    33. Isosomppi J, Västinsalo H, Geller SF, Heon E, Flannery JG, Sankila EM. Disease-causing mutations in the CLRN1 gene alter normal CLRN1 protein trafficking to the plasma membrane. Mol Vis. 2009 Sep 08; 15:1806-18. PMID: 19753315; PMCID: PMC2742642.
    34. Jacobson SG, Aleman TS, Cideciyan AV, Roman AJ, Sumaroka A, Windsor EA, Schwartz SB, Heon E, Stone EM. Defining the residual vision in leber congenital amaurosis caused by RPE65 mutations. Invest Ophthalmol Vis Sci. 2009 May; 50(5):2368-75. PMID: 19117922; PMCID: PMC2731629.
    35. Cideciyan AV, Aleman TS, Boye SL, Schwartz SB, Kaushal S, Roman AJ, Pang JJ, Sumaroka A, Windsor EA, Wilson JM, Flotte TR, Fishman GA, Heon E, Stone EM, Byrne BJ, Jacobson SG, Hauswirth WW. Human gene therapy for RPE65 isomerase deficiency activates the retinoid cycle of vision but with slow rod kinetics. Proc Natl Acad Sci U S A. 2008 Sep 30; 105(39):15112-7. PMID: 18809924.
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    36. Bereta G, Kiser PD, Golczak M, Sun W, Heon E, Saperstein DA, Palczewski K. Impact of retinal disease-associated RPE65 mutations on retinoid isomerization. Biochemistry. 2008 Sep 16; 47(37):9856-65. PMID: 18722466; PMCID: PMC2610467.
    37. Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Windsor EA, Schwartz SB, Heon E, Stone EM. Photoreceptor layer topography in children with leber congenital amaurosis caused by RPE65 mutations. Invest Ophthalmol Vis Sci. 2008 Oct; 49(10):4573-7. PMID: 18539930; PMCID: PMC2731624.
    38. Jacobson SG, Aleman TS, Cideciyan AV, Heon E, Golczak M, Beltran WA, Sumaroka A, Schwartz SB, Roman AJ, Windsor EA, Wilson JM, Aguirre GD, Stone EM, Palczewski K. Human cone photoreceptor dependence on RPE65 isomerase. Proc Natl Acad Sci U S A. 2007 Sep 18; 104(38):15123-8. PMID: 17848510; PMCID: PMC1986623.
    39. Jacobson SG, Cideciyan AV, Aleman TS, Sumaroka A, Schwartz SB, Windsor EA, Roman AJ, Heon E, Stone EM, Thompson DA. RDH12 and RPE65, visual cycle genes causing leber congenital amaurosis, differ in disease expression. Invest Ophthalmol Vis Sci. 2007 Jan; 48(1):332-8. PMID: 17197551.
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    40. Sahgal A, Millar BA, Michaels H, Jaywant S, Chan HS, Heon E, Gallie B, Laperriere N. Focal stereotactic external beam radiotherapy as a vision-sparing method for the treatment of peripapillary and perimacular retinoblastoma: preliminary results. Clin Oncol (R Coll Radiol). 2006 Oct; 18(8):628-34. PMID: 17051954.
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    41. Vincent A, Billingsley G, Priston M, Glaser T, Oliver E, Walter M, Ritch R, Levin A, Heon E. Further support of the role of CYP1B1 in patients with Peters anomaly. Mol Vis. 2006 May 16; 12:506-10. PMID: 16735991.
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    42. Jacobson SG, Aleman TS, Cideciyan AV, Sumaroka A, Schwartz SB, Windsor EA, Traboulsi EI, Heon E, Pittler SJ, Milam AH, Maguire AM, Palczewski K, Stone EM, Bennett J. Identifying photoreceptors in blind eyes caused by RPE65 mutations: Prerequisite for human gene therapy success. Proc Natl Acad Sci U S A. 2005 Apr 26; 102(17):6177-82. PMID: 15837919; PMCID: PMC1087926.
    43. Mulvihill A, Budning A, Jay V, Vandenhoven C, Heon E, Gallie BL, Chan HS. Ocular motility changes after subtenon carboplatin chemotherapy for retinoblastoma. Arch Ophthalmol. 2003 Aug; 121(8):1120-4. PMID: 12912689.
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    44. Punnett A, Teshima I, Heon E, Budning A, Sutherland J, Gallie BL, Chan HS. Unique insertional translocation in a childhood Wilms' tumor survivor detected when his daughter developed bilateral retinoblastoma. Am J Med Genet A. 2003 Jul 01; 120A(1):105-9. PMID: 12794701.
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    45. Paluru P, Ronan SM, Heon E, Devoto M, Wildenberg SC, Scavello G, Holleschau A, Mäkitie O, Cole WG, King RA, Young TL. New locus for autosomal dominant high myopia maps to the long arm of chromosome 17. Invest Ophthalmol Vis Sci. 2003 May; 44(5):1830-6. PMID: 12714612.
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    46. Pandya J, Valverde K, Heon E, Blaser S, Gallie BL, Chan HS. Predilection of retinoblastoma metastases for the mandible. Med Pediatr Oncol. 2002 Apr; 38(4):271-3. PMID: 11920795.
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    47. Valverde K, Pandya J, Heon E, Goh TS, Gallie BL, Chan HS. Retinoblastoma with central retinal artery thrombosis that mimics extraocular disease. Med Pediatr Oncol. 2002 Apr; 38(4):277-9. PMID: 11920797.
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    48. Jamieson RV, Perveen R, Kerr B, Carette M, Yardley J, Heon E, Wirth MG, van Heyningen V, Donnai D, Munier F, Black GC. Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma. Hum Mol Genet. 2002 Jan 01; 11(1):33-42. PMID: 11772997.
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    49. Ionescu D, Driver HS, Heon E, Flanagan J, Shapiro CM. Sleep and daytime sleepiness in retinitis pigmentosa patients. J Sleep Res. 2001 Dec; 10(4):329-35. PMID: 11903863.
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    50. Nishimura DY, Searby CC, Carmi R, Elbedour K, Van Maldergem L, Fulton AB, Lam BL, Powell BR, Swiderski RE, Bugge KE, Haider NB, Kwitek-Black AE, Ying L, Duhl DM, Gorman SW, Heon E, Iannaccone A, Bonneau D, Biesecker LG, Jacobson SG, Stone EM, Sheffield VC. Positional cloning of a novel gene on chromosome 16q causing Bardet-Biedl syndrome (BBS2). Hum Mol Genet. 2001 Apr 01; 10(8):865-74. PMID: 11285252.
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    51. Camand O, Marchant D, Boutboul S, Péquignot M, Odent S, Dollfus H, Sutherland J, Levin A, Menasche M, Marsac C, Dufier JL, Heon E, Abitbol M. Mutation analysis of the tyrosinase gene in oculocutaneous albinism. Hum Mutat. 2001 Apr; 17(4):352. PMID: 11295837.
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    52. Hamel P, Heon E, Gallie BL, Budning AS. Focal therapy in the management of retinoblastoma: when to start and when to stop. J AAPOS. 2000 Dec; 4(6):334-7. PMID: 11124666.
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    53. Slavotinek AM, Stone EM, Mykytyn K, Heckenlively JR, Green JS, Heon E, Musarella MA, Parfrey PS, Sheffield VC, Biesecker LG. Mutations in MKKS cause Bardet-Biedl syndrome. Nat Genet. 2000 Sep; 26(1):15-6. PMID: 10973238.
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    54. Budning AS, Heon E, Gallie BL. Visual prognosis of Coats' disease. J AAPOS. 1998 Dec; 2(6):356-9. PMID: 10532724.
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    55. Oh J, Ho L, Ala-Mello S, Amato D, Armstrong L, Bellucci S, Carakushansky G, Ellis JP, Fong CT, Green JS, Heon E, Legius E, Levin AV, Nieuwenhuis HK, Pinckers A, Tamura N, Whiteford ML, Yamasaki H, Spritz RA. Mutation analysis of patients with Hermansky-Pudlak syndrome: a frameshift hot spot in the HPS gene and apparent locus heterogeneity. Am J Hum Genet. 1998 Mar; 62(3):593-8. PMID: 9497254; PMCID: PMC1376951.
    56. Heon E, Barsoum-Homsy M, Cevrette L, Jacob JL, Milot J, Polemeno R, Musarella MA. Peters' anomaly. The spectrum of associated ocular and systemic malformations. Ophthalmic Paediatr Genet. 1992 Jun; 13(2):137-43. PMID: 1495764.
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