Search Results - "Retterer, K."

Discovery of over 200 new and expanded genetic conditions using GeneMatcher by McWalter, K., Torti, E., Morrow, M., Juusola, J., Retterer, K.

“…GeneMatcher is a platform through which various stakeholders can connect with others interested in candidate gene findings. GeneDx, a diagnostic laboratory,…”
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Specific IgE to gelatin as a cause of anaphylaxis to zoster vaccine by Retterer, Maya K.C., Workman, Lisa J., Bacon, John R., Platts-Mills, Thomas A.E.

“…[...]she had a negative assay to Fel d 2 (cat serum albumin) and pork, serological indicators of pork-cat syndrome.6 Thus, IgE results for subject number 1…”
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De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females by Webster, R., Cho, M.T., Retterer, K., Millan, F., Nowak, C., Douglas, J., Ahmad, A., Raymond, G.V., Johnson, M.R., Pujol, A., Begtrup, A., McKnight, D., Devinsky, O., Chung, W.K.

“…Intellectual disability (ID) affects about 3% of the population and has a male gender bias. Of at least 700 genes currently linked to ID, more than 100 have…”
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Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome by Vivero, M., Cho, M.T., Begtrup, A., Wentzensen, I.M., Walsh, L., Payne, K., Zarate, Y.A., Bosanko, K., Schaefer, G.B., DeBrosse, S., Pollack, L., Mason, K., Retterer, K., DeWard, S., Juusola, J., Chung, W.K.

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α-Gal specific-IgE prevalence and levels in Ecuador and Kenya: Relation to diet, parasites, and IgG4 by Wilson, Jeffrey M., Keshavarz, Behnam, James, Hayley R., Retterer, Maya K.C., Schuyler, Alexander J., Knoedler, Alice, Workman, Lisa J., Ng’ang’a, Lucy, Chico, Martha E., Rönmark, Eva, Heymann, Peter W., Perzanowski, Matthew S., Platts-Mills, Thomas A.E., Cooper, Philip J.

“…IgE to α-Gal is a cause of mammalian meat allergy and has been linked to tick bites in North America, Australia, and Eurasia. Reports from the developing world…”
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α-Gal specific-IgE prevalence and levels in Ecuador and Kenya: Relation to diet, parasites, and IgG 4 by Wilson, Jeffrey M, Keshavarz, Behnam, James, Hayley R, Retterer, Maya K C, Schuyler, Alexander J, Knoedler, Alice, Workman, Lisa J, Ng'ang'a, Lucy, Chico, Martha E, Rönmark, Eva, Heymann, Peter W, Perzanowski, Matthew S, Platts-Mills, Thomas A E, Cooper, Philip J

“…IgE to α-Gal is a cause of mammalian meat allergy and has been linked to tick bites in North America, Australia, and Eurasia. Reports from the developing world…”
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Global imaging of O + from IMAGE/HENA by Mitchell, Donald G., C:son Brandt, Pontus, Roelof, Edmond C., Hamilton, Douglas C., Retterer, Kyle C., Mende, Steven

“…The magnetospheric O^sup +^ population in the 52-180 keV range during storms is investigated through the analysis of energetic neutral atom (ENA) images. The…”
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Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures by Stern, D., Cho, M.T., Chikarmane, R., Willaert, R., Retterer, K., Kendall, F., Deardorff, M., Hopkins, S., Bedoukian, E., Slavotinek, A., Schrier Vergano, S., Spangler, B., McDonald, M., McConkie‐Rosell, A., Burton, B.K., Kim, K.H., Oundjian, N., Kronn, D., Chandy, N., Baskin, B., Guillen Sacoto, M.J., Wentzensen, I.M., McLaughlin, H.M., McKnight, D., Chung, W.K.

“…Graphical key: ADHD, attention deficit hyperactivity disorder; ASD, atrial septal defect; DD, developmental delay; EEG, electroencephalogram; Ht, height; ID,…”
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Association of the missense variant p. Arg203Trp in PACS1 as a cause of intellectual disability and seizures by Stern, D., Cho, M.T., Chikarmane, R., Willaert, R., Retterer, K., Kendall, F., Deardorff, M., Hopkins, S., Bedoukian, E., Slavotinek, A., Schrier Vergano, S., Spangler, B., McDonald, M., McConkie‐Rosell, A., Burton, B.K., Kim, K.H., Oundjian, N., Kronn, D., Chandy, N., Baskin, B., Guillen Sacoto, M.J., Wentzensen, I.M., McLaughlin, H.M., McKnight, D., Chung, W.K.

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Tick bites and IgE sensitization to the oligosaccharide galactose-α-1,3-galactose (α-Gal): a Bacterial Hypothesis by Retterer, Maya K.C., Wilson, Jeffrey M., Workman, Lisa, Platts-Mills, Thomas A.E.

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A consistent “shortage” of cases of the alpha-gal syndrome (AS) on the Gulf coast: possible relevance of fire ants as a predator of lone star ticks by Platts-Mills, Thomas A.E., Retterer, Maya K.C., Workman, Lisa, Wilson, Jeffrey M.

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Global imaging of O super(+) from IMAGE/HENA by Mitchell, D G, Brandt, P C, Roelof, E C, Hamilton, D C, Retterer, K C, Mende, S

“…The magnetospheric O super(+) population in the 52-180 keV range during storms is investigated through the analysis of energetic neutral atom (ENA) images. The…”
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Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome by Vivero, M, Cho, M T, Begtrup, A, Wentzensen, I M, Walsh, L, Payne, K, Zarate, Y A, Bosanko, K, Schaefer, G B, DeBrosse, S, Pollack, L, Mason, K, Retterer, K, DeWard, S, Juusola, J, Chung, W K

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