Publications

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Filters: Keyword is Infant and Author is Mace, Emily M  [Clear All Filters]
2022
Forbes LR, Eckstein OS, Gulati N, Peckham-Gregory EC, Ozuah NW, Lubega J, El-Mallawany NK, Agrusa JE, M Poli C, Vogel TP, Chaimowitz NS, Rider NL, Mace EM, Orange JS, Caldwell JW, Aldave-Becerra JC, Jolles S, Saettini F, Chong HJ, Stray-Pedersen A, Heslop HE, Kamdar KY, R Rouce H, Muzny DM, Jhangiani SN, Gibbs RA, Coban-Akdemir ZH, Lupski JR, McClain KL, Allen CE, Chinn IK. Genetic errors of immunity distinguish pediatric nonmalignant lymphoproliferative disorders. J Allergy Clin Immunol. 2022 ;149(2):758-766.
2020
Mace EM, Paust S, Conte MI, Baxley RM, Schmit MM, Patil SL, Guilz NC, Mukherjee M, Pezzi AE, Chmielowiec J, Tatineni S, Chinn IK, Akdemir ZCoban, Jhangiani SN, Muzny DM, Stray-Pedersen A, Bradley RE, Moody M, Connor PP, Heaps AG, Steward C, Banerjee PP, Gibbs RA, Borowiak M, Lupski JR, Jolles S, Bielinsky AK, Orange JS. Human NK cell deficiency as a result of biallelic mutations in MCM10. J Clin Invest. 2020 ;130(10):5272-5286.
2019
Lam MT, Coppola S, Krumbach OHF, Prencipe G, Insalaco A, Cifaldi C, Brigida I, Zara E, Scala S, Di Cesare S, Martinelli S, Di Rocco M, Pascarella A, Niceta M, Pantaleoni F, Ciolfi A, Netter P, Carisey AF, Diehl M, Akbarzadeh M, Conti F, Merli P, Pastore A, Mortera SLevi, Camerini S, Farina L, Buchholzer M, Pannone L, Cao TN, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Gibbs RA, Basso-Ricci L, Chiriaco M, Dvorsky R, Putignani L, Carsetti R, Janning P, Stray-Pedersen A, Erichsen HChristian, Horne AC, Bryceson YT, Torralba-Raga L, Ramme K, Rosti V, Bracaglia C, Messia V, Palma P, Finocchi A, Locatelli F, Chinn IK, Lupski JR, Mace EM, Cancrini C, Aiuti A, Ahmadian MR, Orange JS, De Benedetti F, Tartaglia M. A novel disorder involving dyshematopoiesis, inflammation, and HLH due to aberrant CDC42 function. J Exp Med. 2019 ;216(12):2778-2799.
2018
Chinn IK, Eckstein OS, Peckham-Gregory EC, Goldberg BR, Forbes LR, Nicholas SK, Mace EM, Vogel TP, Abhyankar HA, Diaz MI, Heslop HE, Krance RA, Martinez CA, Nguyen TC, Bashir DA, Goldman JR, Stray-Pedersen A, Pedroza LA, M Poli C, Aldave-Becerra JC, McGhee SA, Al-Herz W, Chamdin A, Coban-Akdemir ZH, Jhangiani SN, Muzny DM, Cao TN, Hong DN, Gibbs RA, Lupski JR, Orange JS, McClain KL, Allen CE. Genetic and mechanistic diversity in pediatric hemophagocytic lymphohistiocytosis. Blood. 2018 ;132(1):89-100.
2017
Stray-Pedersen A, Sorte HSørmo, Samarakoon P, Gambin T, Chinn IK, Akdemir ZHCoban, Erichsen HChristian, Forbes LR, Gu S, Yuan B, Jhangiani SN, Muzny DM, Rødningen OKristin, Sheng Y, Nicholas SK, Noroski LM, Seeborg FO, Davis CM, Canter DL, Mace EM, Vece TJ, Allen CE, Abhyankar HA, Boone PM, Beck CR, Wiszniewski W, Fevang B, Aukrust P, Tjønnfjord GE, Gedde-Dahl T, Hjorth-Hansen H, Dybedal I, Nordøy I, Jørgensen SF, Abrahamsen TG, Øverland T, Bechensteen AGrete, Skogen V, Osnes LTN, Kulseth MAnn, Prescott TE, Rustad CF, Heimdal KR, Belmont JW, Rider NL, Chinen J, Cao TN, Smith EA, Caldirola MSoledad, Bezrodnik L, Reyes SOswaldo Lu, Rosales FJEspinosa, Guerrero-Cursaru NDenisse, Pedroza LAlberto, Poli CM, Franco JL, Vargas CMTrujillo, Becerra JCarlos Ald, Wright N, Issekutz TB, Issekutz AC, Abbott J, Caldwell JW, Bayer DK, Chan AY, Aiuti A, Cancrini C, Holmberg E, West C, Burstedt M, Karaca E, Yesil G, Artac H, Bayram Y, Atik MMusa, Eldomery MK, Ehlayel MS, Jolles S, Flatø B, Bertuch AA, I Hanson C, Zhang VW, Wong L-J, Hu J, Walkiewicz M, Yang Y, Eng CM, Boerwinkle E, Gibbs RA, Shearer WT, Lyle R, Orange JS, Lupski JR. Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders. J Allergy Clin Immunol. 2017 ;139(1):232-245.
2015
Watkin LB, Jessen B, Wiszniewski W, Vece TJ, Jan M, Sha Y, Thamsen M, Santos-Cortez RLP, Lee K, Gambin T, Forbes LR, Law CS, Stray-Pedersen A, Cheng MH, Mace EM, Anderson MS, Liu D, Tang LFung, Nicholas SK, Nahmod K, Makedonas G, Canter DL, Kwok P-Y, Hicks J, Jones KD, Penney S, Jhangiani SN, Rosenblum MD, Dell SD, Waterfield MR, Papa FR, Muzny DM, Zaitlen N, Leal SM, Gonzaga-Jauregui C, Boerwinkle E, N Eissa T, Gibbs RA, Lupski JR, Orange JS, Shum AK. COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis. Nat Genet. 2015 ;47(6):654-60.