*present and past members of the laboratory are bolded

 

Kabuki Syndrome

Adam, M. P., Banka, S., Bjornsson, H. T., Bodamer, O., Chudley, A. E., Harris, J., Kawame, H., Lanpher, B. C., Lindsley, A. W., Merla, G., Miyake, N., Okamoto, N., Stumpel, C. T. and Niikawa, N. 2018. Kabuki syndrome: international consensus diagnostic criteria. J Med Genet. 2018 Dec 4; 0:1-7. [e-pub ahead of print]

Yap, K. L., Johnson, A. E. K., Fischer, D., Kandikatla, P., Deml, J., Nelakuditi, V., Halbach, S., Jeha, G. S., Burrage, L. C., Bodamer, O., Benavides, V. C., Lewis, A. M., Ellard, S., Shah, P., Cody, D., Diaz, A., Devarajan, A., Truong, L., Greeley, S. A. W., De Leo-Crutchlow, D. D., Edmondson, A. C., Das, S., Thornton, P., Waggoner, D. and Del Gaudio, D. 2018. Congenital hyperinsulinism as the presenting feature of Kabuki syndrome: clinical and molecular characterization of 10 affected individuals. Genet Med, 21, 233-242.

See Correction

 

Lysosomal Storage Disorders

Rohanizadegan M, Abdo SM, O’Donnell-Luria A, Mihalek I, Chen P, Sanders M, Leeman K, Cho M, Hung C, Bodamer O. Utility of rapid whole-exome sequencing in the diagnosis of Niemann-Pick disease type C presenting with fetal hydrops and acute liver failure. Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6). pii:a002147.

Bodamer O, Scarpa M, Hung C, Pulles T, Giugliani R. Birth weight in patients with mucopolysaccharidosis type II: Data from the Hunter Outcome Survey (HOS). Mol Genet Metab Rep. 2017 May 3;11:62-64.

 

Rare Disorders

Carapito, R., Ivanova, E. L., Morlon, A., Meng, L., Molitor, A., Erdmann, E., Kieffer, B., Pichot, A., Naegely, L., Kolmer, A., Paul, N., Hanauer, A., Tran Mau-Them, F., Jean-Marcais, N., Hiatt, S. M., Cooper, G. M., Tvrdik, T., Muir, A. M., Dimartino, C., Chopra, M., Amiel, J., Gordon, C. T., Dutreux, F., Garde, A., Thauvin-Robinet, C., Wang, X., Leduc, M. S., Phillips, M., Crawford, H. P., Kukolich, M. K., Hunt, D., Harrison, V., Kharbanda, M., Smigiel, R., Gold, N., Hung, C. Y., Viskochil, D. H., Dugan, S. L., Bayrak-Toydemir, P., Joly-Helas, G., Guerrot, A. M., Schluth-Bolard, C., Rio, M., Wentzensen, I. M., McWalter, K., Schnur, R. E., Lewis, A. M., Lalani, S. R., Mensah-Bonsu, N., Ceraline, J., Sun, Z., Ploski, R., Bacino, C. A., Mefford, H. C., Faivre, L., Bodamer, O., Chelly, J., Isidor, B. and Bahram, S. ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder. Am J Hum Genet. 2018 Dec 26. [epub ahead of print]

Hung CY, Volkmar B, Baker JD, Bauer JW, Gussoni E, Hainzl S, Klausegger A, Lorenzo J, Mihalek I, Rittinger O, Tekin M, Dallman JE, Bodamer OA. A defect in the inner kinetochore protein CENPT causes a new syndrome of severe growth failure. PLoS One. 2017 Dec 11;12(12):e0189324.

Tuschl K, Meyer E, Valdivia LE, Zhao N, Dadswell C, Abdul-Sada A, Hung CY, Simpson MA, Chong WK, Jacques TS, Woltjer RL, Eaton S, Gregory A, Sanford L, Kara E, Houlden H, Cuno SM, Prokisch H, Valletta L, Tiranti V, Younis R, Maher ER, Spencer J, Straatman-Iwanowska A, Gissen P, Selim LA, Pintos-Morell G, Coroleu-Lletget W, Mohammad SS, Yoganathan S, Dale RC, Thomas M, Rihel J, Bodamer OA, Enns CA, Hayflick SJ, Clayton PT, Mills PB, Kurian MA, Wilson SW. Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia. Nat Commun. 2016 May 27;7:11601.

Koenighofer M, Hung CY, McCauley JL, Dallman J, Back EJ, Mihalek I, Gripp KW, Sol-Church K, Rusconi P, Zhang Z, Shi GX, Andres DA, Bodamer OA. Mutations in RIT1 cause Noonan syndrome – additional functional evidence and expanding the clinical phenotype. Clin Genet. 2016; 89:359-366.

Yamamoto GL, Aguena M, Gos M, Hung C, Pilch J, Fahiminiya S, Abramowicz A, Cristian I, Buscarilli M, Naslavsky MS, Malaquias AC, Zatz M, Bodamer O, Majewski J, Jorge AA, Pereira AC, Kim CA, Passos-Bueno MR, Bertola DR. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. J Med Genet. 2015; 52:413-21.

 

Prematurity

Veerapen MK, Pelaez L, Potter JE, Duthely L, Birusingh R, Rampersaud E, Bodamer OA, Rodriguez MM. Bridging the gaps between the histopathological and demographic risk factors of preterm birth in a unique Miami inner-city population. Fetal Pediatr Pathol 2014; 33:226-233.

Bodamer OA, Maurer W, Mitterer G, Mueller MW, Pollak A, Schmidt WM. Evidence for an association between mannose-binding lectin 2 (MBL2) gene polymorphisms and pre-term birth. Genet Med. 2006; 8:518-524.