2020
Movement Disorders
Dona Aboud Syriani, Darice Wong, Sameer Andani, Claudio M De Gusmao, Yuanming Mao, May Sanyoura, Giacomo Glotzer, Paul J Lockhart, Sharon Hassin-Baer, Vikram Khurana, Christopher M Gomez, Susan Perlman, Soma Das, Brent L Fogel. Neurology Genetics, 2020 May 20;6(3):e440. doi: 10.1212/NXG.0000000000000440.
2018
Endocrinology
Naylor R, Knight Johnson A, and del Gaudio D. GeneReviews.
2018
Endocrinology
Yap KL1, Johnson AEK, Fischer D, Kandikatla P, Deml J, Nelakuditi V, Halbach S, Jeha GS, Burrage LC, Bodamer O, Benavides VC, Lewis AM, Ellard S, Shah P, Cody D, Diaz A, Devarajan A, Truong L, Greeley SAW, De Leó-Crutchlow DD, Edmondson AC, Das S, Thornton P, Waggoner D, Del Gaudio D. Genetics in Medicine. doi: 10.1038/s41436-018-0013-9. [Epub ahead of print]
2018
Movement Disorders
Sun M, Johnson AK, Nelakuditi V, Guidugli L, Fischer D, Arndt K, Ma L, Sandford E, Shakkottai V, Boycott K, Chardon JW4, Li Z, Del Gaudio D, Burmeister M, Gomez CM, Waggoner DJ, Das S. Genetics in Medicine, doi: 10.1038/s41436-018-0007-7. [Epub ahead of print]
2017
Neurodevelopmental
Udani, V, Das, S, Chabbria, R. Movement Disorders Clinical Practice, In Press.
2017
Harrison, SM, Dolinsky, JS, Knight Johnson, AE, Pesaran, T, Azzariti, DR, Bale, S, Chao, EC, Das, S, Vincent, L and Rehm, HL. Genetics in Medicine, Oct;19(10):1096-1104.
2017
Hereditary Cancer
Guidugli, L, Knight Johnson, A, Alkorta-Aranburu, G, Nelakuditi, V, Arndt, K, Churpek, JE, Godley, LA, Townsley, D, Young, NS, Fitzpatrick, C, del Gaudio, D, Das, S, Li, Z. Leukemia., doi: 10.1038/leu.2017.28. [Epub ahead of print], 2017.
2016
O’Daniel JM, McLaughlin HM, Amendola, LM, Bale, SJ, Berg, JS, Bick, D, Bowling, KM, Chung, WK, Conlin LK, Cooper, GM, Das, S, Deignan JL, Dorschner MO, Evans JPE, Ghazani AA, Goddard KA, Gornick M, Farwell Hagman KD, Hambuch T, Hegde M, Johnson AK, Mighion L, Morra M, Plon SE, Punj S, Richards CS, Santani A, Shirts BH, Spinner NB, Tang S, Weck KE, Wolf SM, Yang Y, Rehm HL. Genet. Med. 2016 Nov 3. doi:10.1038/gim.2016.152 [Epub ahead of print], 2016.
2015
Brain Malformations
Li Z, Schonberg R, Guidugli L, Johnson AK, Arnovitz S, Yang S, Scafidi J, Summar ML, Vezina G, Das S, Chapman K, del Gaudio D. J Hum Genet.2015 Jul;60(7):363-9.
2015
Congenital Malformations
Gil-Rodriguez, MC, Deardorff, MA, Ansari, M, Tan, C, Baquero-Montoya, C, Bomme Ousager, L, Puisac, B, Hernandez-Marcos, M, Esperanza Teresa-Rodrigo, M, Marcos-Alcalde I, Bijlsma EK, Bueno-Martinez, I, Clark, D, Cooper NS, Curry, CJ, Fisher, R, Fryer, A, Ganesh, J, Gillessen-Kaesbach, G, Guo, Y, Hakonarson, H, Hopkin, RJ, Kaur, M, Keating, BJ, Kibaek, M, Kinning, E, Kleefstra T, Kline, AD, Li, YR, Picker, J, Queralt, E, Richer, J, Roeder, E, Sinha, A, Scott, RH, So, J, Wusik, KA, Wison, L, Gomez-Puertas, P, Casale, CH, Seliconi, A, Kaiser, FJ, Ramos, FJ, Jackson, LG, Krantz, ID, Das, S, Hennekam, RCM, Fitzpatrick, DR, Pie, J. Hum Mutat. 2015 Apr;36(4):454-62.
2015
Neurodevelopmental
Tan, CA, Topper, S, del Gaudio, D, Nelakuditi, V, Shchelochkov, O, Nowaczyk, MJM, Zeeman, S, Brady, L, Russell, L, Meeks, N, Sastry, S, Arndt, K, Kobiernicki, F, Shaw, R, Das, S. Clin Genet. 2015 Feb 19. doi: 10.1111/cge.12575. [Epub ahead of print].
2015
Epilepsy
Moey, C, Topper, S, Karn, M, Knight Johnson, A, Das, S, Vidaurre, J, Shoubridge, C. Eur. J. Hum. Genet. 2015 August 26. doi:10.1038/ejhg.2015.176. [Epub ahead of print]
2015
Exome
Gomez CM, Das S. Editorial. JAMA Neurol. Published online August 18, 2014. doi:10.1001/jamaneurol.2014.2015
2015
Hereditary Cancer
Li Z, Stölzel F, Onel K, Sukhanova1 M, Mirza K.M., Larson R, Stock W, Sasaki M.M, Chen L, Reddy P, Joseph L, Raca G. Leukemia. 2015 Oct;29(10):2113-6.
2014
Congenital Malformations
Minor, A, Shinawi, M, Hogue, JS, Vineyard, M, Hamlin, DR, Tan, C, Donato, K, Wysinger L, Botes, S, Das, S, del Gaudio, D. Gene. 2014, 537(2): 279-284.
2014
Congenital Malformations
Weaver KN, El Hallek M, Hopkin RJ, Sund KL, Henrickson M, Del Gaudio D, Yuksel A, Acar GO, Bober MB, Kim J, Boyadjiev SA. Keutel syndrome: report of two novel MGP mutations and discussion of clinical overlap with arylsulfatase E deficiency and relapsing polychondritis. Am J Med Genet A. 2014 Apr;164A(4):1062-8.
2014
Endocrinology
Alkorta-Aranburu, G, Carmody, D, Cheng, Y-W, Nelakuditi, V, Ma, L, Dickens JT, Das, S, Greeley, SA, del Gaudio, D. Mol. Genet and Metabolism. 2014, 113(4):315-20.
2014
Congenital Malformations
Dempsey, MA, Knight Johnson, AE, Swope, BS, Moldenhauer, JS, Sroka, H, Chong, K, Chitayat, D, Briere, L, Lyon, H, Palmer, N, Gopalani, S, Siebert, JR, Levesque, S, LeBlanc, J, Menzies, D, Haverfield, E and Das, S. Prenatal Diagnosis. 2014, 34(2):163-7.
2014
Congenital Malformations
Tan, CA, Topper, S, Ward Melver, C, Stein, J, Reeder, A, Arndt, K and Das, S. Brain Dev. 2014, 36(4):351-5.
2014
Congenital Malformations
18. Cheng, YW, Tan, CA, Minor, A, Arndt, K, Wysinger, L, Grange, DK, Kozel, BA, Robin, NH, Waggoner, D, Fitzpatrick, C, Das, S, del Gaudio, D. Mol. Genet. Genomic Med. 2014, 2(2):115-23.
