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1. Nuclear-free NYC: How New Yorkers are disarming the legacies of the Manhattan Project

Author

Sullivan, Kathleen and Bolton, Matthew Breay

Abstract

ABSTRACTIn 2021, New York City passed some of the most progressive nuclear disarmament legislation of any major city in the United States, supported by local activists from the New York Campaign to Abolish Nuclear Weapons (NYCAN). In this essay, two of the people behind this effort share some details of their success with local government as an example of what others can do to bring nuclear abolitionist activism home. They also give a sense of New York’s long history as a nuclear city—and as a locus of action for disarmament.

Published
2024
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2. Interpretation of Serum Analytes for Nutritional Evaluation

Author

Sullivan, Kathleen E., Swanhall, Alyxandra, and Livingston, Shannon

Abstract

Serum micronutrient analysis can provide insight into diet and clinical assessment, despite the complicated interplay between micronutrients and species idiosyncrasies. Approach serum nutrient analytes with skepticism, before jumping to alter diets or offering supplementation. Utilize across species but know that some exotics have exceptions to typical ranges, such as calcium in rabbits or iron in reptiles. Make sure you trust that referenced ranges reflect normal and healthy for that species. Micronutrients are integral to every bodily process, so measurement of serum analytes can tell a story that aids in the clinical picture, when one can recognize what stands out.

Published
2024
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4. Measuring the effect of newborn screening on survival after haematopoietic cell transplantation for severe combined immunodeficiency: a 36-year longitudinal study from the Primary Immune Deficiency Treatment Consortium

Author

Thakar, Monica S, Logan, Brent R, Puck, Jennifer M, Dunn, Elizabeth A, Buckley, Rebecca H, Cowan, Morton J, O'Reilly, Richard J, Kapoor, Neena, Satter, Lisa Forbes, Pai, Sung-Yun, Heimall, Jennifer, Chandra, Sharat, Ebens, Christen L, Chellapandian, Deepak, Williams, Olatundun, Burroughs, Lauri M, Saldana, Blachy Davila, Rayes, Ahmad, Madden, Lisa M, Chandrakasan, Shanmuganathan, Bednarski, Jeffrey J, DeSantes, Kenneth B, Cuvelier, Geoffrey D E, Teira, Pierre, Gillio, Alfred P, Eissa, Hesham, Knutsen, Alan P, Goldman, Frederick D, Aquino, Victor M, Shereck, Evan B, Moore, Theodore B, Caywood, Emi H, Lugt, Mark T Vander, Rozmus, Jacob, Broglie, Larisa, Yu, Lolie C, Shah, Ami J, Andolina, Jeffrey R, Liu, Xuerong, Parrott, Roberta E, Dara, Jasmeen, Prockop, Susan, Martinez, Caridad A, Kapadia, Malika, Jyonouchi, Soma C, Sullivan, Kathleen E, Bleesing, Jack J, Chaudhury, Sonali, Petrovic, Aleksandra, Keller, Michael D, Quigg, Troy C, Parikh, Suhag, Shenoy, Shalini, Seroogy, Christine, Rubin, Tamar, Decaluwe, Hélène, Routes, John M, Torgerson, Troy R, Leiding, Jennifer W, Pulsipher, Michael A, Kohn, Donald B, Griffith, Linda M, Haddad, Elie, Dvorak, Christopher C, and Notarangelo, Luigi D

Abstract

Severe combined immunodeficiency (SCID) is fatal unless durable adaptive immunity is established, most commonly through allogeneic haematopoietic cell transplantation (HCT). The Primary Immune Deficiency Treatment Consortium (PIDTC) explored factors affecting the survival of individuals with SCID over almost four decades, focusing on the effects of population-based newborn screening for SCID that was initiated in 2008 and expanded during 2010–18.

Published
2023
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6. WHY WE WEREN'T READY FOR COVID-19: 'Voters find policies with up-front prevention costs to be less attractive than more-expensive policies that pay large amounts after the fact.'

Author

Strach, Patricia, Perez-Chiques, Elizabeth, Zuber, Katie, and Sullivan, Kathleen

Subjects
Epidemics -- Distribution, Preventive medicine -- Public opinion, Public health -- Public opinion, COVID-19 -- Distribution -- Public opinion, Company distribution practices, General interest, News, opinion and commentary
Abstract

FOR THE PAST DECADE, we have been studying how local governments respond to public health crises: from 19th-century yellow fever and cholera outbreaks to the contemporary opioid epidemic and COVID-19 [...]

Published
2020

7. Sailors, Crimps, and Commerce: Laws Protecting Seamen, 1866–1884

Author

SULLIVAN, KATHLEEN

Abstract

AbstractNineteenth-century seamen were subject to exploitation by boardinghouse keepers who recouped seamen’s debt by pocketing their advance wages from a future voyage. New York’s 1866 Act for the Better Protection of Seamen, the U.S. Shipping Commissioners Act of 1872, and the 1884 Dingley Act all purported to respond to this practice of “crimping,” but each of these acts simply allowed for new arrangements that continued to exact money from seamen. Even when corruption or collusion operated and were publicly known, such practices were tolerated because they continued to provide a steady supply of maritime labor, which promoted maritime commerce. This article considers the misleading political development of this legislation in the context of the early years of spoils reform.

Published
2022
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8. A novel DPH5-related diphthamide-deficiency syndrome causing embryonic lethality or profound neurodevelopmental disorder

Author

Shankar, Suma P., Grimsrud, Kristin, Lanoue, Louise, Egense, Alena, Willis, Brandon, Hörberg, Johanna, AlAbdi, Lama, Mayer, Klaus, Ütkür, Koray, Monaghan, Kristin G., Krier, Joel, Stoler, Joan, Alnemer, Maha, Shankar, Prabhu R., Schaffrath, Raffael, Alkuraya, Fowzan S., Brinkmann, Ulrich, Eriksson, Leif A., Lloyd, Kent, Rauen, Katherine A., Acosta, Maria T., Adam, Margaret, Adams, David R., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Peter Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Deardorff, Matthew, Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Falk, Marni, Fernandez, Liliana, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Godfrey, Rena A., Golden-Grant, Katie, Goldrich, Madison P., Grajewski, Alana, Gutierrez, Irma, Hadley, Don, Hahn, Sihoun, Hamid, Rizwan, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Karaviti, Lefkothea, Kennedy, Jennifer, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Korrick, Susan, Koziura, Mary, Lalani, Seema R., Lam, Byron, Lam, Christina, LaMoure, Grace L., Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Mak, Bryan C., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Nakano-Okuno, Mariko, Nelson, Stan F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey, Barbara N., Quinlan, Aaron, Raskind, Wendy, Raja, Archana N., Rao, Deepak A., Raper, Anna, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Scott, C. Ron, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Jennifer A., Sullivan, Kathleen, Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Amelia L.M., Queenie, K.-G., Tan, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Wallace, Stephanie, Walley, Nicole M., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Weisz-Hubshman, Monika, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Xiao, Changrui, Yamamoto, Shinya, Yang, John, Zastrow, Diane B., Zhang, Zhe, Zhao, Chunli, Zuchner, Stephan, Bellen, Hugo, and Mahoney, Rachel

Abstract

Diphthamide is a post-translationally modified histidine essential for messenger RNA translation and ribosomal protein synthesis. We present evidence for DPH5as a novel cause of embryonic lethality and profound neurodevelopmental delays (NDDs).

Published
2022
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10. Two concepts of freedom of speech

Author

Sullivan, Kathleen M.

Subjects
Freedom of speech -- Laws, regulations and rules, Equality before the law -- Laws, regulations and rules, Government regulation, Law
Abstract

By holding that corporations may make independent expenditures from their general treasuries advocating the election or defeat of political candidates, Citizens United v. FEC (1) unleashed a torrent of popular [...]

Published
2010

11. Recommendations and Action Plans to Improve Ex Situ Nutrition and Health of Marine Teleosts

Author

Williams, Scott, Stoskopf, Michael, Francis‐Floyd, Ruth, Koutsos, Liz, Dierenfeld, Ellen, Harmon, Todd, Cicotello, Eileen, German, Donovan, Semmen, Kent, Keaffaber, Jeffery, Olea‐Popelka, Francisco, Livingston, Shannon, Sullivan, Kathleen, and Valdes, Eduardo

Abstract

The International Workshop for Ex‐Situ Marine Teleost Nutrition and Health, hosted by Disney's Animals, Science and Environment in conjunction with the Comparative Nutrition Society, brought together over 50 animal experts and scientists representing 20 institutions to review current science and identify challenges of marine teleost nutrition and health. Invited speakers presented critical information and current research topics for areas of emphasis and expertise. Subject matter experts identified knowledge gaps and primary areas of focus to guide the scientific community's research efforts to improve the care of ex situ marine teleosts. The clinical medicine working group highlighted standardized approaches to ante‐ and postmortem sample collection, diet biosecurity and supplementation, advanced diagnostic methods, and expanded training in fish nutrition. Nutrition identified the creation of a husbandry and feeding management manual, comprehensive feeding program review and design, and specialty feeder/life stage nutrition as areas of focus, while animal husbandry focused on body condition scoring, feed delivery techniques, and behavioral husbandry topics. The physiology and chemistry and water quality working groups discussed components of the aquatic environment and their effects on fish health, including organic matter constituents, microbial diversity, disinfection, and managing microbiota. Finally, we reviewed how epidemiological approaches and considerations can improve our evaluation of aquarium teleost nutrition and health. The goals outlined by each working group and supporting literature discussion are detailed in this communication and represent our goals for the next 3 to 5 years, with the ultimate objective of the workshop being the production of a husbandry manual for marine teleost nutrition and health. Any scientists who feel that their experience, research, or interests align with these goals are invited to participate by contacting the authors.

Published
2022
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12. Association of Persistent Rubella Virus With Idiopathic Skin Granulomas in Clinically Immunocompetent Adults

Author

Wanat, Karolyn A., Perelygina, Ludmila, Chen, Min-hsin, Hao, LiJuan, Abernathy, Emily, Bender, Nicole R., Shields, Bridget E., Wilson, Barbara D., Crosby, David, Routes, John, Samimi, Sara S., Haun, Paul L., Sokumbi, Olayemi, Icenogle, Joseph P., Sullivan, Kathleen E., Rosenbach, Misha, and Drolet, Beth A.

Abstract

IMPORTANCE: Vaccine-derived and wild-type rubella virus (RuV) has been identified within granulomas in patients with inborn errors of immunity, but has not been described in granulomas of healthy adults. OBJECTIVE: To determine the association between RuV and atypical granulomatous inflammation in immune-competent adults. DESIGN, SETTING, AND PARTICIPANTS: This case series, conducted in US academic dermatology clinics from January 2019 to January 2021, investigated the presence of RuV in skin specimens using RuV immunofluorescent staining of paraffin-embedded tissue sections, real-time reverse-transcription polymerase chain reaction, whole-genome sequencing with phylogenetic analyses, and cell culture by the US Centers for Disease Control and Prevention. Rubella immunoglobulin G, immunoglobulin M enzyme-linked immunoassay, and viral neutralization assays were performed for the sera of immunocompetent individuals with treatment refractory cutaneous granulomas and histopathology demonstrating atypical palisaded and necrotizing granulomas. Clinical immune evaluation was performed. MAIN OUTCOMES AND MEASURES: Identification, genotyping, and culture of vaccine-derived and wild-type RuV within granulomatous dermatitis of otherwise clinically immune competent adults. RESULTS: Of the 4 total immunocompetent participants, 3 (75%) were women, and the mean (range) age was 61.5 (49.0-73.0) years. The RuV capsid protein was detected by immunohistochemistry in cutaneous granulomas. The presence of RuV RNA was confirmed by real-time reverse-transcription polymerase chain reaction in fresh-frozen skin biopsies and whole-genome sequencing. Phylogenetic analysis of the RuV sequences showed vaccine-derived RuV in 3 cases and wild-type RuV in 1. Live RuV was recovered from the affected skin in 2 participants. Immunology workup results demonstrated no primary immune deficiencies. CONCLUSIONS AND RELEVANCE: The case series study results suggest that RuV (vaccine derived and wild type) can persist for years in cutaneous granulomas in clinically immunocompetent adults and is associated with atypical (palisaded and necrotizing type) chronic cutaneous granulomas. These findings represent a potential paradigm shift in the evaluation, workup, and management of atypical granulomatous dermatitis and raises questions regarding the potential transmissibility of persistent live RuV.

Published
2022
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13. Republican Party of Minnesota v. White: what are the alternatives?

Author

Sullivan, Kathleen M.

Subjects
Campaign speeches -- Laws, regulations and rules, Judicial candidates -- Laws, regulations and rules, Judicial selection -- Laws, regulations and rules, Republican Party v. White (536 U.S. 765 (2002)), Government regulation
Published
2008

14. Tribute to justice Stephen G. Breyer.

Author

Adams, Katherine, Feignberg, Kenneth R., Katzmann, Robert A., Stewart, Richard B., and Sullivan, Kathleen M.

Subjects
Supreme Court justices -- Testimonials, United States. Supreme Court -- Officials and employees
Published
2008

16. The Undiagnosed Diseases Network: Characteristics of solvable applicants and diagnostic suggestions for nonaccepted ones

Author

Mulvihill, John J., Findley, Laura, Ni, Weihong, Sinsheimer, Janet S., Cole, F. Session, Esteves, Cecilia, Bernstein, Jonathan A., Newman, John H., Wheeler, Matthew T., Mokry, Jill R., Acosta, Maria T., Adams, David R., Afzali, Ben, Al-Beshri, Ali, Allworth, Aimee, Alvarez, Raquel L., Alvey, Justin, Andrews, Ashley, Ashley, Euan A., Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Borja, Nicholas, Botto, Lorenzo, Briere, Lauren C., Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Callaway, Kaitlin, Carey, John, Carvalho, George, Cassini, Thomas, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Corner, Brian, Corona, Rosario I., Craigen, William J., Crouse, Andrew B., Cuddapah, Vishnu, Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Delgado, Margaret, Dell’Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Douglas, Jessica, Douine, Emilie D., Earl, Dawn, Emrick, Lisa T., Eng, Christine M., Ezell, Kimberly, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Fu, Jiayu, Gahl, William A., Ganetzky, Rebecca, Glanton, Emily, Glass, Ian, Goddard, Page C., Gonzalez, Joanna M., Gropman, Andrea, Halley, Meghan C., Hamid, Rizwan, Hanchard, Neal, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yan, Hurst, Anna, Introne, Wendy, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Marie, Orpa Jean-, Jobanputra, Vaidehi, Kaitryn, Emerald, Kanca, Oguz, Karasozen, Yigit, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korf, Bruce, Korrick, Susan, Krakow, Deborah, Kravets, Elijah, Lalani, Seema R., Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Latchman, Kumarie, LeBlanc, Kimberly, Lee, Brendan H., Lewis, Richard A., Liu, Pengfei, Longo, Nicola, Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Maghiro, Audrey Stephannie, Mahoney, Rachel, Malicdan, May Christine V., Mao, Rong, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McConkie-Rosell, Allyn, McCray, Alexa T., Might, Matthew, Mikati, Mohamad, Miller, Danny, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Morimoto, Marie, Mulvihill, John J., Nakano-Okuno, Mariko, Nelson, Stanley F., Neumann, Serena, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Parker, Neil H., Peart, LéShon, Petcharet, Leoyklang, Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey Swerdzewski, Barbara N., Quinlan, Aaron, Rajagopalan, Ramakrishnan, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Rebelo, Adriana, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rodriguez, Martin, Rosenfeld, Jill A., Rosenthal, Elizabeth, Rossignol, Francis, Ruzhnikov, Maura, Sabaii, Marla, Sampson, Jacinda B., Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Seto, Elaine, Shashi, Vandana, Shelkowitz, Emily, Sheppeard, Sam, Shin, Jimann, Silverman, Edwin K., Sisco, Kathy, Skelton, Tammi, Skraban, Cara, Smith, Carson A., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stergachis, Andrew, Stoler, Joan M., Sullivan, Kathleen, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Taylor, Herman, Tekin, Mustafa, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Hubshman, Monika Weisz, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Wood, Heidi, Worley, Kim, Yamamoto, Shinya, Zhang, Zhe, and Zuchner, Stephan

Abstract

Can certain characteristics identify as solvable some undiagnosed patients who seek extensive evaluation and thorough record review, such as by the Undiagnosed Diseases Network (UDN)?

Published
2024
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17. Event Free Survival in Severe Combined Immune Deficiency (SCID) Infants after Conditioned Umbilical Cord Blood Transplantation (UCBT) Benefits from Omitting Serotherapy

Author

Martinez, Caridad, Logan, Brent, Liu, Xuerong, Dvorak, Christopher C., Madden, Lisa, Molinari, Lyndsay, Cowan, Morton J., Pai, Sung-Yun, Haddad, Elie, Puck, Jennifer, Kohn, Donald B., Griffith, Linda M., Pulsipher, Michael, Leiding, Jennifer W., Notarangelo, Luigi D., Torgerson, Troy, Marsh, Rebecca A., Cuvelier, Geoff D.E., Prockop, Susan, Buckley, Rebecca H., Kuo, Caroline Y., Yip, Alison, Hershfield, Michael S., Parrott, Roberta E, Ebens, Christen L., Moore, Theodore B., O’Reilly, Richard J., Kapadia, Malika, Kapoor, Neena, Satter, Lisa Forbes, Burroughs, Lauri M., Petrovic, Aleksandra, Thakar, Monica S., Chellapandian, Deepak, Heimall, Jennifer R., Shyr, David C., Bednarski, Jeffrey J, Rayes, Ahmad, Chandrakasan, Shanmuganathan, Quigg, Troy C., Davila, Blachy J, DeSantes, Kenneth, Eissa, Hesham, Goldman, Frederick, Rozmus, Jacob, Shah, Ami J, Lugt, Mark Vander, Keller, Michael D., Sullivan, Kathleen E., Jyonouchi, Soma, Seroogy, Christine, Decaluwe, Helene, Teira, Pierre, Knutsen, Alan P., Kletzel, Morris, Aquino, Victor, Davis, Jeffrey H, and Szabolcs, Paul

Published
2023
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20. X-linked agammaglobulinemia: report on a United States registry of 201 patients

Author

Winkelstein, Jerry A., Marino, Mary C., Lederman, Howard M., Jones, Stacie M., Sullivan, Kathleen, Burks, A. Wesley, Conley, Mary Ellen, Cunningham-Rundles, Charlotte, and Ochs, Hans D.

Subjects
Agammaglobulinemia -- Causes of, Agammaglobulinemia -- Diagnosis, Agammaglobulinemia -- Development and progression, Diseases -- Reporting, United States -- Demographic aspects
Published
2006

21. A tribute to justice Sandra Day O'Connor.

Author

Ginsburg, Ruth Bader, Breyer, Stephen G., McGregor, Ruth V., Nager, Glen D., and Sullivan, Kathleen M.

Subjects
Supreme Court justices -- Testimonials, United States. Supreme Court -- Officials and employees
Abstract

On the occasion of her retirement from the Supreme Court of the United States, the editors of the Harvard Law Review respectfully dedicate this issue to Justice Sandra Day O'Connor. [...]

Published
2006

23. Impact of gender and sex work on sexual and injecting risk behaviors and their association with HIV positivity among injecting drug users in an HIV epidemic in Togliatti City, Russian federation

Author

Platt, Lucy, Rhodes, Tim, Lowndes, Catherine M., Madden, Peter, Sarang, Anya, Mikhailova, Larissa, Renton, Adrian, Pevzner, Yury, Sullivan, Kathleen, and Khutorskoy, Mikhail

Subjects
HIV (Viruses) -- Causes of, Intravenous drug abuse -- Risk factors, Health
Abstract

Objectives: Togliatti City is witness to a large epidemic of human immunodeficiency virus (HIV) associated with injecting drug use (IDU). Goal: This study sought to examine whether risk behaviors and risk factors associated with HIV differed across a sample IDUs by gender and sex work. Study: A sample of IDU (n = 423) comprising female sex workers (SWs) (n = 66), non-sex workers (nonSWs) (n = 89) and men (n = 268) were recruited by field workers in community settings. Behavioral and HIV prevalence data were collected. Results: HIV prevalence did not differ across the groups (~56%), but gender adversely affected some risk factors. A comparison of risk behaviors indicated that SWs were more likely to engage in risky injecting behaviors than either men or nonSWs. They were also more likely to report a history of sexually transmitted infections. Conclusions: IDUs involved in sex work and IDU nonSWs require specific and targeted interventions to facilitate safer injecting and sexual behaviors.

Published
2005

24. What happened to 'Brown'?

Author

Sullivan, Kathleen

Subjects
Silent Covenants: Brown v. Board of Education and the Unfulfilled Hopes for Racial Reform (Book) -- Book reviews, Simple Justice: The History of Brown v. Board of Education and Black America's Struggle for Equality (Book), All Deliberate Speed: Reflections on the First Half Century of Brown vs. Board of Education (Book), Books -- Book reviews, Literature/writing
Published
2004

25. Directions in Sexual Harassment Law

Author

Sullivan, Kathleen S.

Subjects
Directions in Sexual Harassment Law (Book) -- Book reviews, Books -- Book reviews, Law, Library and information science, Political science
Published
2004

26. Laurence H. Tribe.

Author

Mezhburd, Serge, Breyer, Stephen G., Dorsen, Norman, Keoltl, John G., Shrum, Robert M., and Sullivan, Kathleen M.

Subjects
Harvard Law School -- Officials and employees, Law teachers -- Testimonials
Abstract

Testimonials to Harvard Law School Professor Laurence H. Tribe are presented. Tribe is a respected expert on Constitutional law.

Published
2003

27. The new religion and the Constitution.

Author

Sullivan, Kathleen M.

Subjects
Social service -- Management, Religious institutions -- Services, Freedom of religion -- Laws, regulations and rules, Church and state -- Laws, regulations and rules, Discrimination -- Laws, regulations and rules, Responsibility -- Laws, regulations and rules, Religious organization software, Company business management, Company services, Government regulation, United States Constitution (U.S. Const. amend. 1)
Abstract

Government funding of religious organizations to provide social services would pose difficult constitutional dilemmas. Standards of accountability and inclusion imposed on such organizations could violate religious freedom, while their absence could result in violations of the rights of those who access the services. The best solution is for government simply to refrain from funding religion.

Published
2003

28. Constitutionalizing women's equality.

Author

Sullivan, Kathleen M.

Subjects
Constitutional history -- Analysis, Equality before the law -- Analysis, Feminist jurisprudence -- Analysis
Published
2002

29. Intercountry adoption: a practitioner's update.

Author

Kohli, Aarti and Sullivan, Kathleen M.

Subjects
Intercountry adoption -- Laws, regulations and rules, Emigration and immigration law -- Practice, Hague Convention on the Protection of Children and Cooperation in Respect of Intercountry Adoption, Child Citizenship Act of 2000
Published
2001

30. Constitutionalizing women's equality.

Author

Sullivan, Kathleen M.

Subjects
Women -- Laws, regulations and rules, Equality before the law -- Laws, regulations and rules, Constitutional law -- Social aspects
Published
2001

31. Preoperative Evaluation of Refugee Children With Heart Disease

Author

Drake, Rebecca E., Sullivan, Kathleen E., Tai, Emily C.L., and Gandhi, Sanjiv K.

Abstract

The objective of this report is to identify nutritional deficiencies and health concerns in Canadian paediatric refugee patients with heart disease before cardiac surgery. A retrospective case study was conducted with 4 refugee children, aged 0-18 years, with heart disease referred to Cardiac Surgery. A total of 75% of patients had low vitamin D levels, 50% had selenium deficiency, 50% had iron deficiency anaemia, 75% were below the third percentile for height and weight for age, and 75% had dental caries. Early laboratory, nutritional, and dental screening of paediatric refugee patients at the time of heart disease diagnosis can optimize general and cardiovascular health before surgical intervention.

Published
2022
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34. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Author

Ravenscroft, Thomas A., Phillips, Jennifer B., Fieg, Elizabeth, Bajikar, Sameer S., Peirce, Judy, Wegner, Jeremy, Luna, Alia A., Fox, Eric J., Yan, Yi-Lin, Rosenfeld, Jill A., Zirin, Jonathan, Kanca, Oguz, Acosta, Maria T., Adam, Margaret, Adams, David R., Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanya, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Deardorff, Matthew, Dell’Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Draper, David D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Findley, Laurie C., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fresard, Laure, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Godfrey, Rena A., Golden-Grant, Katie, Goldman, Alica M., Goldrich, Madison P., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Gutierrez, Irma, Hahn, Sihoun, Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Huryn, Laryssa, Isasi, Rosario, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Karaviti, Lefkothea, Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lalani, Seema R., Lam, Byron, Lam, Christina, LaMoure, Grace L., Lanpher, Brendan C., Lanza, Ian R., Latham, Lea, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., MacDowall, John, Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Mak, Bryan C., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Moretti, Paolo M., Mosbrook-Davis, Deborah, Mulvihill, John J., Murdock, David R., Nagy, Anna, Nakano-Okuno, Mariko, Nath, Avi, Nelson, Stan F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina GS., Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Power, Bradley, Pusey, Barbara N., Quinlan, Aaron, Raskind, Wendy, Raja, Archana N., Rao, Deepak A., Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Scott, C. Ron, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Jennifer A., Sullivan, Kathleen, Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Amelia L.M., Tan, Queenie K.-G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Thurm, Audrey, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Wallace, Stephanie, Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Woods, Jeremy D., Yamamoto, Shinya, Yang, John, Yousef, Muhammad, Zastrow, Diane B., Zein, Wadih, Zhao, Chunli, Zuchner, Stephan, Benke, Paul J., Cameron, Eric S., Strehlow, Vincent, Platzer, Konrad, Jamra, Rami Abou, Klöckner, Chiara, Osmond, Matthew, Licata, Thomas, Rojas, Samantha, Dyment, David, Chong, Josephine S.C., Lincoln, Sharyn, Stoler, Joan M., Postlethwait, John H., Wangler, Michael F., Yamamoto, Shinya, Krier, Joel, Westerfield, Monte, and Bellen, Hugo J.

Abstract

Growth differentiation factor 11 (GDF11) is a key signaling protein required for proper development of many organ systems. Only one prior study has associated an inherited GDF11variant with a dominant human disease in a family with variable craniofacial and vertebral abnormalities. Here, we expand the phenotypic spectrum associated with GDF11variants and document the nature of the variants.

Published
2021
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35. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Author

Rodan, Lance H., Spillmann, Rebecca C., Kurata, Harley T., Lamothe, Shawn M., Maghera, Jasmine, Jamra, Rami Abou, Alkelai, Anna, Antonarakis, Stylianos E., Atallah, Isis, Bar-Yosef, Omer, Bilan, Frédéric, Bjorgo, Kathrine, Blanc, Xavier, Van Bogaert, Patrick, Bolkier, Yoav, Burrage, Lindsay C., Christ, Björn U., Granadillo, Jorge L., Dickson, Patricia, Donald, Kirsten A., Dubourg, Christèle, Eliyahu, Aviva, Emrick, Lisa, Engleman, Kendra, Gonfiantini, Michaela Veronika, Good, Jean-Marc, Kalser, Judith, Kloeckner, Chiara, Lachmeijer, Guus, Macchiaiolo, Marina, Nicita, Francesco, Odent, Sylvie, O’Heir, Emily, Ortiz-Gonzalez, Xilma, Pacio-Miguez, Marta, Palomares-Bralo, María, Pena, Loren, Platzer, Konrad, Quinodoz, Mathieu, Ranza, Emmanuelle, Rosenfeld, Jill A., Roulet-Perez, Eliane, Santani, Avni, Santos-Simarro, Fernando, Pode-Shakked, Ben, Skraban, Cara, Slaugh, Rachel, Superti-Furga, Andrea, Thiffault, Isabelle, van Jaabrsveld, Richard H., Vincent, Marie, Wang, Hong-Gang, Zacher, Pia, Alejandro, Mercedes E., Azamian, Mahshid S., Bacino, Carlos A., Balasubramanyam, Ashok, Burrage, Lindsay C., Chao, Hsiao-Tuan, Clark, Gary D., Craigen, William J., Dai, Hongzheng, Dhar, Shweta U., Emrick, Lisa T., Goldman, Alica M., Hanchard, Neil A., Jamal, Fariha, Karaviti, Lefkothea, Lalani, Seema R., Lee, Brendan H., Lewis, Richard A., Marom, Ronit, Moretti, Paolo M., Murdock, David R., Nicholas, Sarah K., Orengo, James P., Posey, Jennifer E., Potocki, Lorraine, Rosenfeld, Jill A., Samson, Susan L., Scott, Daryl A., Tran, Alyssa A., Vogel, Tiphanie P., Wangler, Michael F., Yamamoto, Shinya, Eng, Christine M., Liu, Pengfei, Ward, Patricia A., Behrens, Edward, Deardorff, Matthew, Falk, Marni, Hassey, Kelly, Sullivan, Kathleen, Vanderver, Adeline, Goldstein, David B., Cope, Heidi, McConkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Smith, Edward C., Spillmann, Rebecca C., Sullivan, Jennifer A., Tan, Queenie K.-G., Walley, Nicole M., Agrawal, Pankaj B., Beggs, Alan H., Berry, Gerard T., Briere, Lauren C., Cobban, Laurel A., Coggins, Matthew, Cooper, Cynthia M., Fieg, Elizabeth L., High, Frances, Holm, Ingrid A., Korrick, Susan, Krier, Joel B., Lincoln, Sharyn A., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rao, Deepak A., Rodan, Lance H., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Walker, Melissa, Walsh, Chris A., Esteves, Cecilia, Kelley, Emily G., Kohane, Isaac S., LeBlanc, Kimberly, McCray, Alexa T., Nagy, Anna, Dasari, Surendra, Lanpher, Brendan C., Lanza, Ian R., Morava, Eva, Oglesbee, Devin, Bademci, Guney, Barbouth, Deborah, Bivona, Stephanie, Carrasquillo, Olveen, Chang, Ta Chen Peter, Forghani, Irman, Grajewski, Alana, Isasi, Rosario, Lam, Byron, Levitt, Roy, Liu, Xue Zhong, McCauley, Jacob, Sacco, Ralph, Saporta, Mario, Schaechter, Judy, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Zuchner, Stephan, Colley, Heather A., Dayal, Jyoti G., Eckstein, David J., Findley, Laurie C., Krasnewich, Donna M., Mamounas, Laura A., Manolio, Teri A., Mulvihill, John J., LaMoure, Grace L., Goldrich, Madison P., Urv, Tiina K., Doss, Argenia L., Acosta, Maria T., Bonnenmann, Carsten, D’Souza, Precilla, Draper, David D., Ferreira, Carlos, Godfrey, Rena A., Groden, Catherine A., Macnamara, Ellen F., Maduro, Valerie V., Markello, Thomas C., Nath, Avi, Novacic, Donna, Pusey, Barbara N., Toro, Camilo, Wahl, Colleen E., Baker, Eva, Burke, Elizabeth A., Adams, David R., Gahl, William A., Malicdan, May Christine V., Tifft, Cynthia J., Wolfe, Lynne A., Yang, John, Power, Bradley, Gochuico, Bernadette, Huryn, Laryssa, Latham, Lea, Davis, Joie, Mosbrook-Davis, Deborah, Rossignol, Francis, Solomon, Ben, MacDowall, John, Thurm, Audrey, Zein, Wadih, Yousef, Muhammad, Adam, Margaret, Amendola, Laura, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Berg-Rood, Beverly, Blue, Elizabeth, Boyd, Brenna, Byers, Peter, Chanprasert, Sirisak, Cunningham, Michael, Dipple, Katrina, Doherty, Daniel, Earl, Dawn, Glass, Ian, Golden-Grant, Katie, Hahn, Sihoun, Hing, Anne, Hisama, Fuki M., Horike-Pyne, Martha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Lam, Christina, Maravilla, Kenneth, Mefford, Heather, Merritt, J. Lawrence, Mirzaa, Ghayda, Nickerson, Deborah, Raskind, Wendy, Rosenwasser, Natalie, Scott, C. Ron, Sun, Angela, Sybert, Virginia, Wallace, Stephanie, Wener, Mark, Wenger, Tara, Ashley, Euan A., Bejerano, Gill, Bernstein, Jonathan A., Bonner, Devon, Coakley, Terra R., Fernandez, Liliana, Fisher, Paul G., Fresard, Laure, Hom, Jason, Huang, Yong, Kohler, Jennefer N., Kravets, Elijah, Majcherska, Marta M., Martin, Beth A., Marwaha, Shruti, McCormack, Colleen E., Raja, Archana N., Reuter, Chloe M., Ruzhnikov, Maura, Sampson, Jacinda B., Smith, Kevin S., Sutton, Shirley, Tabor, Holly K., Tucker, Brianna M., Wheeler, Matthew T., Zastrow, Diane B., Zhao, Chunli, Byrd, William E., Crouse, Andrew B., Might, Matthew, Nakano-Okuno, Mariko, Whitlock, Jordan, Brown, Gabrielle, Butte, Manish J., Dell’Angelica, Esteban C., Dorrani, Naghmeh, Douine, Emilie D., Fogel, Brent L., Gutierrez, Irma, Huang, Alden, Krakow, Deborah, Lee, Hane, Loo, Sandra K., Mak, Bryan C., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Renteria, Genecee, Signer, Rebecca H., Sinsheimer, Janet S., Wan, Jijun, Wang, Lee-kai, Perry, Katherine Wesseling, Woods, Jeremy D., Alvey, Justin, Andrews, Ashley, Bale, Jim, Bohnsack, John, Botto, Lorenzo, Carey, John, Pace, Laura, Longo, Nicola, Marth, Gabor, Moretti, Paolo, Quinlan, Aaron, Velinder, Matt, Viskochil, Dave, Bayrak-Toydemir, Pinar, Mao, Rong, Westerfield, Monte, Bican, Anna, Brokamp, Elly, Duncan, Laura, Hamid, Rizwan, Kennedy, Jennifer, Kozuira, Mary, Newman, John H., PhillipsIII, John A., Rives, Lynette, Robertson, Amy K., Solem, Emily, Cogan, Joy D., Cole, F. Sessions, Hayes, Nichole, Kiley, Dana, Sisco, Kathy, Wambach, Jennifer, Wegner, Daniel, Baldridge, Dustin, Pak, Stephen, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Rush, Eric, Pitt, Geoffrey S., Au, Ping Yee Billie, and Shashi, Vandana

Abstract

CACNA1Cencodes the alpha-1-subunit of a voltage-dependent L-type calcium channel expressed in human heart and brain. Heterozygous variants in CACNA1Chave previously been reported in association with Timothy syndrome and long QT syndrome. Several case reports have suggested that CACNA1Cvariation may also be associated with a primarily neurological phenotype.

Published
2021
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36. Defining democracy down

Author

Sullivan, Kathleen M.

Subjects
Political parties -- Social aspects, Societies -- Social aspects, Civil rights -- Social aspects, Democracy -- Social aspects, Associations, institutions, etc. -- Social aspects, Business, general, Social aspects
Abstract

In a democracy, we are supposed to treat each other as equals and with mutual respect. Does that mean that the Catholic Church must admit women as priests? Must families [...]

Published
1998

39. Epistemic democracy and minority rights.

Author

Sullivan, Kathleen M.

Subjects
Constitutional law -- Interpretation and construction, Democracy -- Laws, regulations and rules
Abstract

The philosophical tensions underlying constitutional democracy are variations of tensions underlying democracy generally according to Frank Michelman. His attempt at combining procedural and substantive theories of constitutional democracy is not tenable and has little of the stated connection to the jurisprudence of US Supreme Court Justice William Brennan.

Published
1998

40. Speech & power: is First Amendment absolutism obsolete?

Author

Collins, Ronald K.L., Skover, David M., Abrams, Floyd, Fiss, Owen, Kaminer, Wendy, Sunstein, Cass R., Shapiro, Steven R., Baker, C. Edwin, Sullivan, Kathleen, and Garbus, Martin

Subjects
Freedom of speech -- Public opinion, News, opinion and commentary, United States Constitution. 1st Amendment
Abstract

Promoting civil liberties has been at the core of this magazine's agenda since its founding by abolitionists more than 130 years ago, and freedom of speech is probably the liberty [...]

Published
1997

41. Abdominal compartment syndrome

Author

Nayduch, Donna A., Sullivan, Kathleen, and Reed, R. Lawrence, II

Subjects
Abdomen, Wounds and injuries -- Care and treatment, Business, Health, Health care industry
Abstract

Trauma nurses may play an important role in identifying and allowing for early treatment of abdominal compartment syndrome (ACS). ACS occurs when intra-abdominal pressure increases in response to trauma or illness, displacing abdominal contents. Vital organs may fail if ACS is not identified in time. The cardiovascular, kidney, and respiratory systems are most affected by ACS. Surgical management to decompress abdominal pressure is the best treatment. After surgery, wound management is critical.

Published
1997

43. Variants in PRKAR1Bcause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain

Author

Marbach, Felix, Stoyanov, Georgi, Erger, Florian, Stratakis, Constantine A., Settas, Nikolaos, London, Edra, Rosenfeld, Jill A., Torti, Erin, Haldeman-Englert, Chad, Sklirou, Evgenia, Kessler, Elena, Ceulemans, Sophia, Nelson, Stanley F., Martinez-Agosto, Julian A., Palmer, Christina G.S., Signer, Rebecca H., Acosta, Maria T., Adam, Margaret, Adams, David R., Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennett, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Daya, Jyoti G., Deardorff, Matthew, Dell’Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Draper, David D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Findley, Laurie C., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fresard, Laure, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Godfrey, Rena A., Golden-Grant, Katie, Goldman, Alica M., Goldrich, Madison P., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Gutierrez, Irma, Hahn, Sihoun, Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Huryn, Laryssa, Isasi, Rosario, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Karaviti, Lefkothea, Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Kozuira, Mary, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Krier, Joel B., LaMoure, Grace L., Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Latham, Lea, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., MacDowall, John, MacRae, Calum A., Macnamara, Ellen F., Maduro, Valerie V., Majcherska, Marta M., Mak, Bryan C., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martinez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Moretti, Paolo, Mosbrook-Davis, Deborah, Mulvihill, John J., Murdock, David R., Nagy, Anna, Nakano-Okuno, Mariko, Nath, Avi, Nelson, Stanley F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Power, Bradley, Pusey, Barbara N., Quinlan, Aaron, Raja, Archana N., Rao, Deepak A., Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, C. Ron, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Signer, Rebecca H., Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Jennifer A., Sullivan, Kathleen, Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Amelia L.M., Tan, Queenie K.-G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Thurm, Audrey, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Wallace, Stephanie, Walley, Nicole M., Walsh, Chris A., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Woods, Jeremy D., Yamamoto, Shinya, Yang, John, Yousef, Muhammad, Zastrow, Diane B., Zein, Wadih, Zhao, Chunli, Zuchner, Stephan, Andrews, Marisa V., Grange, Dorothy K., Willaert, Rebecca, Person, Richard, Telegrafi, Aida, Sievers, Aaron, Laugsch, Magdalena, Theiß, Susanne, Cheng, YuZhu, Lichtarge, Olivier, Katsonis, Panagiotis, Stocco, Amber, and Schaaf, Christian P.

Abstract

We characterize the clinical and molecular phenotypes of six unrelated individuals with intellectual disability and autism spectrum disorder who carry heterozygous missense variants of the PRKAR1Bgene, which encodes the R1β subunit of the cyclic AMP-dependent protein kinase A (PKA).

Published
2021
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44. Granulomatous Dermatitis Associated With Rubella Virus Infection in an Adult With Immunodeficiency

Author

Shields, Bridget E., Perelygina, Ludmila, Samimi, Sara, Haun, Paul, Leung, Thomas, Abernathy, Emily, Chen, Min-hsin, Hao, LiJuan, Icenogle, Joseph, Drolet, Beth, Wilson, Barbara, Bryer, Joshua S., England, Ross, Blumberg, Emily, Wanat, Karolyn A., Sullivan, Kathleen, and Rosenbach, Misha

Abstract

IMPORTANCE: Immunodeficiency-related, vaccine-derived rubella virus (RuV) as an antigenic trigger of cutaneous and visceral granulomas is a rare, recently described phenomenon in children and young adults treated with immunosuppressant agents. OBJECTIVE: To perform a comprehensive clinical, histologic, immunologic, molecular, and genomic evaluation to elucidate the potential cause of an adult patient’s atypical cutaneous granulomas. DESIGN, SETTING, AND PARTICIPANTS: A prospective evaluation of skin biopsies, nasopharyngeal swabs, and serum samples submitted to the Centers for Disease Control and Prevention was conducted to assess for RuV using real-time reverse-transcriptase polymerase chain reaction (RT-PCR) and viral genomic sequencing. The samples were obtained from a man in his 70s with extensive cutaneous granulomas mimicking both cutaneous sarcoidosis (clinically) and CD8+ granulomatous cutaneous T-cell lymphoma (histopathologically). The study was conducted from September 2019 to February 2021. MAIN OUTCOMES AND MEASURES: Identification and genotyping of a novel immunodeficiency-related RuV–associated granulomatous dermatitis. RESULTS: Immunohistochemistry for RuV capsid protein and RT-PCR testing for RuV RNA revealed RuV in 4 discrete skin biopsies from different body sites. In addition, RuV RNA was detected in the patient’s nasopharyngeal swabs by RT-PCR. The full viral genome was sequenced from the patient’s skin biopsy (RVs/Philadelphia.PA.USA/46.19/GR, GenBank Accession #MT249313). The patient was ultimately diagnosed with a novel RuV-associated granulomatous dermatitis. CONCLUSIONS AND RELEVANCE: The findings of this study suggest that clinicians and pathologists may consider RuV-associated granulomatous dermatitis during evaluation of a patient because it might have implications for the diagnosis of cutaneous sarcoidosis, with RuV serving as a potential antigenic trigger, and for the diagnosis of granulomatous cutaneous T-cell lymphoma, with histopathologic features that may prompt an evaluation for immunodeficiency and/or RuV.

Published
2021
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46. Dueling sovereignties: U.S. Term Limits, Inc. v. Thornton.

Author

Sullivan, Kathleen M.

Subjects
Term limits -- Cases, State rights -- Laws, regulations and rules, Exclusive and concurrent legislative powers -- Laws, regulations and rules, U.S. Term Limits, Inc. v. Thornton (115 S. Ct. 1842 (1995))
Abstract

The US Supreme Court ruled in U.S. Term Limits, Inc. v. Thornton that term limits legislation passed in Arkansas through the initiative process was unconstitutional as applied to members of the US Congress. The Court found that the states do not have the power to alter the requirements for office set forth in the Qualifications Clauses of the Constitution. Modifications can only be made by constitutional amendment. The dissent argued that the Constitution merely set minimum standards that could be added to by the states.

Published
1995

49. Resurrecting free speech.

Author

Sullivan, Kathleen M.

Subjects
Freedom of speech -- Analysis, Hate crimes -- Analysis
Published
1995

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