Search Results - "Jodarski, Colleen"

Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study by Carrillo, Nuria, Malicdan, May C., Leoyklang, Petcharat, Shrader, Joseph A., Joe, Galen, Slota, Christina, Perreault, John, Heiss, John D., Class, Bradley, Liu, Chia-Ying, Bradley, Kennan, Jodarski, Colleen, Ciccone, Carla, Driscoll, Claire, Parks, Rebecca, Van Wart, Scott, Bayman, Levent, Coffey, Christopher S., Quintana, Melanie, Berry, Scott M., Huizing, Marjan, Gahl, William A.

“…Purpose To evaluate the safety and efficacy of N -acetylmannosamine (ManNAc) in GNE myopathy, a genetic muscle disease caused by deficiency of the…”
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Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling by Jodarski, Colleen, Duncan, Rylee, Torres, Erin, Gore, Rachel, Raznahan, Armin, Similuk, Morgan

“…XYY syndrome is characterized by a variable neurodevelopmental phenotype, with features including developmental delays, cognitive impairments, and an increased…”
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Correction to: Understanding the phenotypic spectrum and family experiences of XYY syndrome: Important considerations for genetic counseling by Jodarski, Colleen, Duncan, Rylee, Torres, Erin, Gore, Rachel, Raznahan, Armin, Similuk, Morgan

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Case report: Deep sequencing and long-read genome sequencing refine prior genetic analyses in families with apparent gonadal mosaicism in PIK3CD -related activated PI3K delta syndrome by Orellana, Halyn, Yan, Jia, Paul, Alex, Tokita, Mari, Ding, Yan, Ghosh, Rajarshi, Lewis, Katie L, Davis, Joie, Jamal, Leila, Jodarski, Colleen, Similuk, Morgan, Saucier, Nermina, Zhu, Zhanyang, Wang, Yihe, Wu, Sitao, Ruggieri, Jason, Su, Helen C, Uzel, Gulbu, Nahas, Shareef, Cooper, Megan, Walkiewicz, Magdalena A

“…Gonadal and gonosomal mosaicism describe phenomena in which a seemingly healthy individual carries a genetic variant in a subset of their gonadal tissue or…”
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Deep Screening for X Chromosome Parent-of-Origin Effects on Neurobehavioral and Neuroanatomical Phenotypes in 47,XXY Klinefelter Syndrome by Larsen, Isabella G., Moses, Rachel Gore, Seifert, Bryce A., Liu, Siyuan, Li, Samuel, Oler, Andrew J., Levitis, Elizabeth, Schaffer, Lukas, Duncan, Rylee, Jodarski, Colleen, Kamen, Michael, Yan, Jia, Lalonde, François M., Ghosh, Rajarshi, Torres, Erin, Clasen, Liv S., Blumenthal, Jonathan, Similuk, Morgan, Raznahan, Armin, Walkiewicz, Magdalena A.

“…X chromosome parent of origin (POX) has been proposed as a source of phenotypic variation within sex chromosome aneuploidies such as Klinefelter syndrome…”
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CONTRIBUTION OF GENOME SEQUENCING IN THE EVALUATION OF CHILDREN AND ADOLESCENTS WITH SUSPECTED SERONEGATIVE AUTOIMMUNE ENCEPHALITIS by Gore, Rachel, Similuk, Morgan, Yan, Jia, Setzer, Michael, Jodarski, Colleen, Kamen, Michael, Duncan, Rylee, Garth, Erin, Seifert, Bryce, Ghosh, Rajarshi, Franco, Luis, Walkiewicz, Magdalena, Mooneyham, GenaLynne

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FOXI3 haploinsufficiency contributes to low T-cell receptor excision circles and T-cell lymphopenia by Ghosh, Rajarshi, Bosticardo, Marita, Singh, Sunita, Similuk, Morgan, Delmonte, Ottavia M., Pala, Francesca, Peng, Christine, Jodarski, Colleen, Keller, Michael D., Chinn, Ivan K., Groves, Andrew K., Notarangelo, Luigi D., Walkiewicz, Magdalena A., Chinen, Javier, Bundy, Vanessa

“…Newborn screening can identify neonatal T-cell lymphopenia through detection of a low number of copies of T-cell receptor excision circles in dried blood spots…”
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T61. PERSONAL UTILITY OF POLYGENIC RISK SCORES: ATTITUDES AND INTEREST AMONG INDIVIDUALS WITH MAJOR DEPRESSIVE DISORDER AND TREATMENT RESISTANT DEPRESSION by Gore, Rachel, Setzer, Michael, Jodarski, Colleen, Yavi, Mani, Ballard, Elizabeth, Kamen, Michael, Duncan, Rylee, Reynolds-Lallement, Nadjalisse, Durland, Lauren, Hurst, Kelly, Walkiewicz, Magdalena, Austin, Jehannine, Yan, Jia, Similuk, Morgan

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eP083: Chromosomal microarray analysis as a supplement to exome sequencing in pediatric patients with suspected inborn errors of immunity by Beers, Breanna, Similuk, Morgan, Yan, Jia, Kamen, Michael, Setzer, Michael, Jodarski, Colleen, Seifert, Bryce, Ghosh, Rajarshi, Duncan, Rylee, Hunt, Devin, Mixer, Madison, Jevtich, Kathleen, Yu, Yunting, Franco, Luis, Holland, Steven, Walkiewicz-Yvon, Magdalena

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eP133: Genome sequencing and chromosomal microarray as a tool for evaluating phenotypic variability in individuals with X and Y chromosome variations by Gore, Rachel, Similuk, Morgan, Yan, Jia, Setzer, Michael, Kamen, Michael, Jodarski, Colleen, Dakic, Aleksandra, Torres, Erin, Blumenthal, Jonathan, Duncan, Rylee, Hunt, Devin, Mixer, Madison, Beers, Breanna, Yu, Yunting, Jevtich, Kathleen, Seifert, Bryce, Ghosh, Rajarshi, Raznahan, Armin, Walkiewicz-Yvon, Magdalena

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OP019: A tertiary care clinical sequencing program for patients with suspected immune defects: Results from the first 1000 families by Similuk, Morgan, Yan, Jia, Ghosh, Rajarshi, Setzer, Michael, Kamen, Michael, Jodarski, Colleen, Gore, Rachel, Duncan, Rylee, Hunt, Devin, Mixer, Madison, Beers, Breanna, Seifert, Bryce, Franco, Luis, Notarangelo, Luigi, Holland, Steven, Walkiewicz-Yvon, Magdalena

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Psychological state at the time of psychiatric genetic counseling impacts patient empowerment: A pre-post analysis by Moses, Rachel Gore, Jodarski, Colleen, Setzer, Michael, Lewis, Katie L, Yan, Jia, Byers, Sophie, Yavi, Mani, Ballard, Elizabeth D, Walkiewicz, Magdalena, Zarate, Jr, Carlos A, Austin, Jehannine C, Similuk, Morgan

“…Psychiatric genetic counseling (GC) has been associated with patient-reported increases in empowerment (perceived control, emotional regulation, and hope). We…”
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eP400: Utility of genome sequencing in CNV identification in an immune disorders cohort by Seifert, Bryce, Similuk, Morgan, Setzer, Michael, Yan, Jia, Kamen, Michael, Jodarski, Colleen, Jamal, Leila, Jevtich, Kathleen, Yu, Yunting, Duncan, Rylee, Hunt, Devin, Mixer, Madison, Beers, Breanna, Kuram, Vasu, Lack, Justin, Karlins, Eric, Oler, Andrew, Ghosh, Rajarshi, Bergerson, Jenna, Freeman, Alexandra, Fuss, Ivan, Lionakis, Michail, Strober, Warren, Uzel, Gulbu, Zerbe, Christa, Holland, Steven, Bi, Weimin, Franco, Luis, Walkiewicz-Yvon, Magdalena

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PRESENTING A MULTIDISCIPLINARY FRAMEWORK FOR RESEARCH GENOME SEQUENCING COUPLED WITH GENETIC COUNSELING AND RETURN OF CLINICALLY VALIDATED PRIMARY AND SECONDARY FINDINGS FOR INDIVIDUALS WITH PSYCHIATRIC DISORDERS by Yan, Jia, Gore, Rachel, Setzer, Michael, Kamen, Michael, Jodarski, Colleen, Ghosh, Rajarshi, Seifert, Bryce, Duncan, Rylee, Mooneyham, GenaLynne, Buckley, Shu, Berman, Karen F., McMahon, Francis J., Raznahan, Armin, Similuk, Morgan, Walkiewicz, Magdalena

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