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Vandana Shashi, MBBS, MD

Professor of Pediatrics
Campus mail: 2080 GSRB, Durham, NC 27710
Phone: (919) 684-2036
Email address: vandana.shashi@duke.edu

Undiagnosed and rare diseases cause significant emotional and financial distress to patients who suffer from these and their families. Duke is one of seven clinical sites to be part of the NIH Undiagnosed Diseases Network (UDN). As a principal investigator for the Duke UDN site, I am involved in arranging detailed clinical evaluation for children and adults with undiagnosed diseases and in the interpretation of the genome sequencing that is performed as part of the initiative to obtain a diagnosis in these individuals. I also currently serve as the Co-Chair of the UDN steering committee. 

Chromosome 22q11.2 deletion syndrome (also known as velocardiofacial or DiGeorge syndrome: particular interests are in understanding the learning disabilities and the high risk of mental illness in these children as they get older, for which a research study is ongoing. As a clinician and researcher in this area, I run a clinic for children and adults with 22q11.2 deletion syndrome and am an investigator within the International Brain and Behavior Consortium for 22q11.2 deletion syndrome. The goal of the consortium is to conduct research to understand the genetic underpinnings of the serious mental illnesses such as schizophrenia that occur in ~25% of adolescents and adults with the condition.

Education and Training

  • Fellowship-Medical Genetics, Pediatrics, Wake Forest University, 1992 - 1995
  • Pediatric Residency, Pediatrics, Wake Forest University, 1990 - 1992
  • Senior Resident-Pediatric Neurology, Pediatrics, Kasturba Medical College (Manipal), 1986 - 1987
  • Pediatric Residency, Pediatrics, Kasturba Medical College (Manipal), 1983 - 1986
  • M.D., Kasturba Medical College (Manipal), 1986
  • M.B.B.S., Kasturba Medical College (Manipal), 1983

Publications

Burrage, LC, Reynolds, JJ, Baratang, NV, Phillips, JB, Wegner, J, McFarquhar, A, Higgs, MR, Christiansen, AE, Lanza, DG, Seavitt, JR, Jain, M, Li, X, Parry, DA, Raman, V, Chitayat, D, Chinn, IK, Bertuch, AA, Karaviti, L, Schlesinger, AE, Earl, D, Bamshad, M, Savarirayan, R, Doddapaneni, H, Muzny, D, Jhangiani, SN, Eng, CM, Gibbs, RA, Bi, W, Emrick, L, Rosenfeld, JA, Postlethwait, J, Westerfield, M, Dickinson, ME, Beaudet, AL, Ranza, E, Huber, C, Cormier-Daire, V, Shen, W, Mao, R, Heaney, JD, Orange, JS, University of Washington Center for Mendelian Genomics, , Undiagnosed Diseases Network, , Bertola, D, Yamamoto, GL, Baratela, WAR, Butler, MG, Ali, A, Adeli, M, Cohn, DH, Krakow, D, Jackson, AP, Lees, M, Offiah, AC, Carlston, CM, Carey, JC, Stewart, GS, Bacino, CA, Campeau, PM, and Lee, B. "Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes." American Journal of Human Genetics 104, no. 3 (March 2019): 422-438.

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Lutz, O, Lizano, P, Mothi, SS, Joseph, A, Tandon, N, Ormston, L, Hooper, S, Keshavan, M, and Shashi, V. "Hypogyrification and its association with cognitive impairment in children with 22q11.2 deletion Syndrome: A preliminary report." Psychiatry Research. Neuroimaging 285 (March 2019): 47-50.

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Cogné, B, Ehresmann, S, Beauregard-Lacroix, E, Rousseau, J, Besnard, T, Garcia, T, Petrovski, S, Avni, S, McWalter, K, Blackburn, PR, Sanders, SJ, Uguen, K, Harris, J, Cohen, JS, Blyth, M, Lehman, A, Berg, J, Li, MH, Kini, U, Joss, S, von der Lippe, C, Gordon, CT, Humberson, JB, Robak, L, Scott, DA, Sutton, VR, Skraban, CM, Johnston, JJ, Poduri, A, Nordenskjöld, M, Shashi, V, Gerkes, EH, Bongers, EMHF, Gilissen, C, Zarate, YA, Kvarnung, M, Lally, KP, Kulch, PA, Daniels, B, Hernandez-Garcia, A, Stong, N, McGaughran, J, Retterer, K, Tveten, K, Sullivan, J, Geisheker, MR, Stray-Pedersen, A, Tarpinian, JM, Klee, EW, Sapp, JC, Zyskind, J, Holla, ØL, Bedoukian, E, Filippini, F, Guimier, A, Picard, A, Busk, ØL, Punetha, J, Pfundt, R, Lindstrand, A, Nordgren, A, Kalb, F, Desai, M, Ebanks, AH, Jhangiani, SN, Dewan, T, Coban Akdemir, ZH, Telegrafi, A, Zackai, EH, Begtrup, A, Song, X, Toutain, A, Wentzensen, IM, Odent, S, Bonneau, D, Latypova, X, Deb, W, CAUSES Study, , Redon, S, Bilan, F, Legendre, M, Troyer, C, Whitlock, K, Caluseriu, O, Murphree, MI, Pichurin, PN, Agre, K, Gavrilova, R, Rinne, T, Park, M, Shain, C, Heinzen, EL, Xiao, R, Amiel, J, Lyonnet, S, Isidor, B, Biesecker, LG, Lowenstein, D, Posey, JE, Denommé-Pichon, A-S, Deciphering Developmental Disorders study, , Férec, C, Yang, X-J, Rosenfeld, JA, Gilbert-Dussardier, B, Audebert-Bellanger, S, Redon, R, Stessman, HAF, Nellaker, C, Yang, Y, Lupski, JR, Goldstein, DB, Eichler, EE, Bolduc, F, Bézieau, S, Küry, S, and Campeau, PM. "Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability." American Journal of Human Genetics 104, no. 3 (March 2019): 530-541.

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Kelly, M, Park, M, Mihalek, I, Rochtus, A, Gramm, M, Pérez-Palma, E, Axeen, ET, Hung, CY, Olson, H, Swanson, L, Anselm, I, Briere, LC, High, FA, Sweetser, DA, Undiagnosed Diseases Network, , Kayani, S, Snyder, M, Calvert, S, Scheffer, IE, Yang, E, Waugh, JL, Lal, D, Bodamer, O, and Poduri, A. "Spectrum of neurodevelopmental disease associated with the GNAO1 guanosine triphosphate-binding region." Epilepsia 60, no. 3 (March 2019): 406-418.

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Niarchou, M, Chawner, SJRA, Fiksinski, A, Vorstman, JAS, Maeder, J, Schneider, M, Eliez, S, Armando, M, Pontillo, M, Vicari, S, McDonald-McGinn, DM, Emanuel, BS, Zackai, EH, Bearden, CE, Shashi, V, Hooper, SR, Owen, MJ, Gur, RE, Wray, NR, van den Bree, MBM, Thapar, A, and International 22q11.2 Deletion Syndrome Brain and Behavior Consortium, . "Attention deficit hyperactivity disorder symptoms as antecedents of later psychotic outcomes in 22q11.2 deletion syndrome." Schizophrenia Research 204 (February 2019): 320-325.

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Shashi, V, Schoch, K, Spillmann, R, Cope, H, Tan, QK-G, Walley, N, Pena, L, McConkie-Rosell, A, Jiang, Y-H, Stong, N, Need, AC, Goldstein, DB, and Undiagnosed Diseases Network, . "A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative." Genetics in Medicine : Official Journal of the American College of Medical Genetics 21, no. 1 (January 2019): 161-172.

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Deisseroth, CA, Birgmeier, J, Bodle, EE, Kohler, J, Matalon, D, Nazarenko, Y, Genetti, C, Brownstein, C, Schmitz-Abe, K, Schoch, K, Cope, H, Signer, R, Ud, N, Martinez-Agosto, J, Shashi, V, Beggs, A, Bernstein, J, and Bejerano, G. "CLINPHEN EXTRACTS AND PRIORITIZES PHENOTYPES FROM MEDICAL RECORDS TO ACCELERATE GENOMIC DIAGNOSIS." Western Medical Research Conference. Carmel, CA. January 24, 2019 - January 26, 2019.: BMJ PUBLISHING GROUP, January 1, 2019.

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Machol, K, Rousseau, J, Ehresmann, S, Garcia, T, Nguyen, TTM, Spillmann, RC, Sullivan, JA, Shashi, V, Jiang, Y-H, Stong, N, Fiala, E, Willing, M, Pfundt, R, Kleefstra, T, Cho, MT, McLaughlin, H, Rosello Piera, M, Orellana, C, Martínez, F, Caro-Llopis, A, Monfort, S, Roscioli, T, Nixon, CY, Buckley, MF, Turner, A, Jones, WD, van Hasselt, PM, Hofstede, FC, van Gassen, KLI, Brooks, AS, van Slegtenhorst, MA, Lachlan, K, Sebastian, J, Madan-Khetarpal, S, Sonal, D, Sakkubai, N, Thevenon, J, Faivre, L, Maurel, A, Petrovski, S, Krantz, ID, Tarpinian, JM, Rosenfeld, JA, Lee, BH, Undiagnosed Diseases Network, , and Campeau, PM. "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 104, no. 1 (January 2019): 164-178.

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Deisseroth, CA, Birgmeier, J, Bodle, EE, Kohler, JN, Matalon, DR, Nazarenko, Y, Genetti, CA, Brownstein, CA, Schmitz-Abe, K, Schoch, K, Cope, H, Signer, R, Undiagnosed Diseases Network, , Martinez-Agosto, JA, Shashi, V, Beggs, AH, Wheeler, MT, Bernstein, JA, and Bejerano, G. "ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis." Genetics in Medicine : Official Journal of the American College of Medical Genetics (December 5, 2018).

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Shashi, V, Magiera, MM, Klein, D, Zaki, M, Schoch, K, Rudnik-Schöneborn, S, Norman, A, Lopes Abath Neto, O, Dusl, M, Yuan, X, Bartesaghi, L, De Marco, P, Alfares, AA, Marom, R, Arold, ST, Guzmán-Vega, FJ, Pena, LD, Smith, EC, Steinlin, M, Babiker, MO, Mohassel, P, Foley, AR, Donkervoort, S, Kaur, R, Ghosh, PS, Stanley, V, Musaev, D, Nava, C, Mignot, C, Keren, B, Scala, M, Tassano, E, Picco, P, Doneda, P, Fiorillo, C, Issa, MY, Alassiri, A, Alahmad, A, Gerard, A, Liu, P, Yang, Y, Ertl-Wagner, B, Kranz, PG, Wentzensen, IM, Stucka, R, Stong, N, Allen, AS, Goldstein, DB, Undiagnosed Diseases Network, , Schoser, B, Rösler, KM, Alfadhel, M, Capra, V, Chrast, R, Strom, TM, Kamsteeg, E-J, Bönnemann, CG, Gleeson, JG, Martini, R, Janke, C, and Senderek, J. "Loss of tubulin deglutamylase CCP1 causes infantile-onset neurodegeneration." The Embo Journal (November 12, 2018).

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