Damara Ortiz, MD

Valentine V, Sogawa Y, Rajan D, Ortiz D. A case of De Novo NAA 10 mutation presenting with eyelid myoclonias (AKA Jeavons syndrome)." Seizure. 2018 Jun 19; 60:120-122

Marcogliese, P.C,  Shashi, V., Spillmann, R.C., Stong, N., Rosenfeld, J.A., Koenig, M.K., Martínez-Agosto, J.A., Herzog, M., Chen, A.H., Dickson, P.I., Lin, H.J., Vera, M.U., Ortiz, D., Infante, E., Chung,H.L., Zuo, Z., Lee, P.T., Kanca, O., Xia, F., Yang, Y., Yamamoto, S., Wangler, M.F., Smith, E.C., Jasien, J., Kansagra, S., Spiridigliozzi, G., El-Dairi, M., Lark, R., Golden-Grant, K., Undiagnosed Disease Network, Mirzaa, G., Hemelsoet, D., Lee, B., Stanley F. Nelson, S.F., Goldstein, D.B., Bellen, H.J., Pena, L.D.M. "Haploinsufficiency in IRF2BPL¬ is associated with neurological phenotypes." Am J Hum Genet. 2018 Sep 6;103(3):456.

Burk, C.M., Coffey, K.E., Mace, E.M., Bostwick, B.L., Chinn, I.K., Coban-Akdemir, Z.H., Ortiz, D., Barnum, J.L., Allen, S.W., Robertson, L.M., Orange, J.S. and Chong, H.J. “Immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome with NK dysfunction and EBV-driven malignancy treated with stem cell transplantation.” J Allergy Clin Immunol Pract. 2020 Mar;8(3):1103-1106.e3

Feldt-Rasmussen, U., Hughes, D., Sunder-Plassmann, G., Shankar, S., Nedd, K., Olivotto, I., Ortiz, D., Ohashi, T., Hamazaki, T., Skuban, N., Yu, J., Barth, J.A., Nicholls, K. “Long-term efficacy and safety of migalastat treatment in Fabry disease: 30-month results from the open-label extension of the randomised, phase 3 ATTRACT study.” Mol Genet Metab. 2020 Sep-Oct;131(1-2):219-228

Melis, D., Carvalho, D., Barbaro-Dieber, T., Espay, A.J., Gambello, M.J., Gener, B., Gerkes, E., Hitzert, M.M., Hove, H.B., Jansen, S., Jira, P.E., Lachlan, K., Menke, L.A., Narayanan, V., Ortiz, D., Overwater, El, Posmyk, R., Ramsey, K., Rossi, A., Lazari Sandoval, R., Stumpel, C., Stuurman, K.E., Turnpenny, P., Strisciuglio, P., Tartaglia, M., Unger, S., Waters, T., Turnbull, C and Hennekam, R.C. “Primrose Syndrome:  characterization of the phenotype in 41 patients.” Clin Genet. 2020 Jen; 97(6):890-901.

Tolchin, D., Yeager, J.P., Martinez, J.A., Haseeb, A., Ortiz, D., et al. “De Novo SOX6 Variants Cause a Neurodevelopmental Syndrome Associated with Attention Deficit/Hyperactivity Disorder, Craniosynostosis and Osteochondromas.” Am J Hum Genet, 2020 June 4;106(6):830-845. 

Ficicioglu, C., Ahrens-Nicklas, R.C., Barch, J., Cuddapah, S.R., DiBoscio, B.S., DiPerna, J.C., Gordon, P.L., Henderson, N., Menello, C., Luongo, N., Ortiz, D., and Xiao, R. “Newborn Screening for Pompe Disease: Pennsylvania Experience." Int J Neonatal Screen. 2020 Nov 13;6(4):89.

Yatsenko, M.D, S.A., Aarabi, M., Hu, J., Surti, U., Ortiz, D., Madan-Khetarpal, S., Saller, D.N., Bellissimo, D., Rajkovic, A. “Copy number alterations involving 59 ACMG-recommended secondary findings genes.” Clin Genet. 2020 Dec;98(6):577-588.

Brunet, T., McWalter, K., Mayerhanser, K., Armstrong-Javors, A., Bader, I., Baugh, E., Begtrup, A., Bupp, C.P., Callewaert, B.L., Cereda, A., Cousin, M.A., Demmer, L.,  Dsouza, N.R., Fleischer, N., Gavrilova, R.H., Ghate, S., Graf, E., Green, A., Green20, S.R., Iascone, M., Kdissa, A., Klee, D., Klee, E.W., Lancaster, E., Lindstrom, K., Mayr, J.A., McEntagart, M., Meeks, N.J.L., Mittag, D., Moore, H., Olsen, A.K., Ortiz, D., Parsons, G., Pena, L.D.M, Person, R.E., Punj, S., Ramos-Rivera, G.A., Sacoto, M.J.G., Schaefer, G.B., Schnur, R.E., Scott, T.M., Scott, D.A., Serbinski, C.R., Shashi, V., Siu, V.M., Fossøy Stadheim, B., Sullivan, J.A., Švantnerová, J., Velsher, L., Wargowski, D.S., Wentzensen, I.M., Wieczorek, D., Winkelmann, J., Yap, P., Zech, M., Zimmermann, M.T., Zoran, S., Meitinger, T., Distelmaier, F., Wagner, M. “Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder.” Genet Med. 2021 Feb;23(2):384-395.

Lahrouchi, N., Postma, A.V., Salazar, C.M., De Laughter, D.M., Tjong, F., Piherová, L., Bowling, F.Z., Zimmerman, D., Lodder1, E.M., Ta-Shma, A., Perles, Z., Beekman, L., Ilgun, A., Gunst, Q., Hababa, M., Škorić‐Milosavljević, D., Stránecký, V., Tomek, V., de Knijff, P., de Leeuw, R., Robinson, J.Y., Burn, S.C., Mustafa, H., Ambrose, M., Moss, T., Jacober, J., Niyazov, D.M., Rousounides, A., Aristidou-Kallika, A., Tanteles, G., Ange-Line, B., Denommé-Pichon, A.S., Francannet, C., Ortiz, D., Haak, M.C., Ten Harkel, A.D.J., Manten, G.T.R., Dutman, A.C., Bouman, K., Magliozzi, M., Radio, F.C., Santen, G.W.E., Herkert, J.C., Elpeleg, O., van den Hoff, M.J.B., Mulder, B., Airola, M.V., Kmoch, S., Barnett, J.V., Clur, S.A., Frohman, M.A., Bezzina, C.R.  "Bi-allelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy." J Clin Invest. 2021 Mar 1;131(5):e142148.