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2. De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Author

Chen, Yuyang, Dawes, Ruebena, Kim, Hyung Chul, Ljungdahl, Alicia, Stenton, Sarah L., Walker, Susan, Lord, Jenny, Lemire, Gabrielle, Martin-Geary, Alexandra C., Ganesh, Vijay S., Ma, Jialan, Ellingford, Jamie M., Delage, Erwan, D’Souza, Elston N., Dong, Shan, Adams, David R., Allan, Kirsten, Bakshi, Madhura, Baldwin, Erin E., Berger, Seth I., Bernstein, Jonathan A., Bhatnagar, Ishita, Blair, Ed, Brown, Natasha J., Burrage, Lindsay C., Chapman, Kimberly, Coman, David J., Compton, Alison G., Cunningham, Chloe A., D’Souza, Precilla, Danecek, Petr, Délot, Emmanuèle C., Dias, Kerith-Rae, Elias, Ellen R., Elmslie, Frances, Evans, Care-Anne, Ewans, Lisa, Ezell, Kimberly, Fraser, Jamie L., Gallacher, Lyndon, Genetti, Casie A., Goriely, Anne, Grant, Christina L., Haack, Tobias, Higgs, Jenny E., Hinch, Anjali G., Hurles, Matthew E., Kuechler, Alma, Lachlan, Katherine L., Lalani, Seema R., Lecoquierre, François, Leitão, Elsa, Fevre, Anna Le, Leventer, Richard J., Liebelt, Jan E., Lindsay, Sarah, Lockhart, Paul J., Ma, Alan S., Macnamara, Ellen F., Mansour, Sahar, Maurer, Taylor M., Mendez, Hector R., Metcalfe, Kay, Montgomery, Stephen B., Moosajee, Mariya, Nassogne, Marie-Cécile, Neumann, Serena, O’Donoghue, Michael, O’Leary, Melanie, Palmer, Elizabeth E., Pattani, Nikhil, Phillips, John, Pitsava, Georgia, Pysar, Ryan, Rehm, Heidi L., Reuter, Chloe M., Revencu, Nicole, Riess, Angelika, Rius, Rocio, Rodan, Lance, Roscioli, Tony, Rosenfeld, Jill A., Sachdev, Rani, Shaw-Smith, Charles J., Simons, Cas, Sisodiya, Sanjay M., Snell, Penny, St Clair, Laura, Stark, Zornitza, Stewart, Helen S., Tan, Tiong Yang, Tan, Natalie B., Temple, Suzanna E. L., Thorburn, David R., Tifft, Cynthia J., Uebergang, Eloise, VanNoy, Grace E., Vasudevan, Pradeep, Vilain, Eric, Viskochil, David H., Wedd, Laura, Wheeler, Matthew T., White, Susan M., Wojcik, Monica, Wolfe, Lynne A., Wolfenson, Zoe, Wright, Caroline F., Xiao, Changrui, Zocche, David, Rubenstein, John L., Markenscoff-Papadimitriou, Eirene, Fica, Sebastian M., Baralle, Diana, Depienne, Christel, MacArthur, Daniel G., Howson, Joanna M. M., Sanders, Stephan J., O’Donnell-Luria, Anne, and Whiffin, Nicola

Published
2024
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3. Experience of the first adult-focussed undiagnosed disease program in Australia (AHA-UDP): solving rare and puzzling genetic disorders is ageless

Author

Wallis, Mathew, Bodek, Simon D., Munro, Jacob, Rafehi, Haloom, Bennett, Mark F., Ye, Zimeng, Schneider, Amy, Gardiner, Fiona, Valente, Giulia, Murdoch, Emma, Uebergang, Eloise, Hunter, Jacquie, Stutterd, Chloe, Huq, Aamira, Salmon, Lucinda, Scheffer, Ingrid, Eratne, Dhamidhu, Meyn, Stephen, Fong, Chun Y., John, Tom, Mullen, Saul, White, Susan M., Brown, Natasha J., McGillivray, George, Chen, Jesse, Richmond, Chris, Hughes, Andrew, Krzesinski, Emma, Fennell, Andrew, Chambers, Brian, Santoreneos, Renee, Le Fevre, Anna, Hildebrand, Michael S., Bahlo, Melanie, Christodoulou, John, Delatycki, Martin, and Berkovic, Samuel F.

Published
2024
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4. Pathogenic variants in KMT2C result in a neurodevelopmental disorder distinct from Kleefstra and Kabuki syndromes

Author

Rots, Dmitrijs, Choufani, Sanaa, Faundes, Victor, Dingemans, Alexander J.M., Joss, Shelagh, Foulds, Nicola, Jones, Elizabeth A., Stewart, Sarah, Vasudevan, Pradeep, Dabir, Tabib, Park, Soo-Mi, Jewell, Rosalyn, Brown, Natasha, Pais, Lynn, Jacquemont, Sébastien, Jizi, Khadijé, Ravenswaaij-Arts, Conny M.A. van, Kroes, Hester Y., Stumpel, Constance T.R. M., Ockeloen, Charlotte W., Diets, Illja J., Nizon, Mathilde, Vincent, Marie, Cogné, Benjamin, Besnard, Thomas, Kambouris, Marios, Anderson, Emily, Zackai, Elaine H., McDougall, Carey, Donoghue, Sarah, O'Donnell-Luria, Anne, Valivullah, Zaheer, O'Leary, Melanie, Srivastava, Siddharth, Byers, Heather, Leslie, Nancy, Mazzola, Sarah, Tiller, George E., Vera, Moin, Shen, Joseph J., Boles, Richard, Jain, Vani, Brischoux-Boucher, Elise, Kinning, Esther, Simpson, Brittany N., Giltay, Jacques C., Harris, Jacqueline, Keren, Boris, Guimier, Anne, Marijon, Pierre, Vries, Bert B.A. de, Motter, Constance S., Mendelsohn, Bryce A., Coffino, Samantha, Gerkes, Erica H., Afenjar, Alexandra, Visconti, Paola, Bacchelli, Elena, Maestrini, Elena, Delahaye-Duriez, Andree, Gooch, Catherine, Hendriks, Yvonne, Adams, Hieab, Thauvin-Robinet, Christel, Josephi-Taylor, Sarah, Bertoli, Marta, Parker, Michael J., Rutten, Julie W., Caluseriu, Oana, Vernon, Hilary J., Kaziyev, Jonah, Zhu, Jia, Kremen, Jessica, Frazier, Zoe, Osika, Hailey, Breault, David, Nair, Sreelata, Lewis, Suzanne M.E., Ceroni, Fabiola, Viggiano, Marta, Posar, Annio, Brittain, Helen, Giovanna, Traficante, Giulia, Gori, Quteineh, Lina, Ha-Vinh Leuchter, Russia, Zonneveld-Huijssoon, Evelien, Mellado, Cecilia, Marey, Isabelle, Coudert, Alicia, Aracena Alvarez, Mariana Inés, Kennis, Milou G.P., Bouman, Arianne, Roifman, Maian, Amorós Rodríguez, María Inmaculada, Ortigoza-Escobar, Juan Dario, Vernimmen, Vivian, Sinnema, Margje, Pfundt, Rolph, Brunner, Han G., Vissers, Lisenka E.L.M., Kleefstra, Tjitske, Weksberg, Rosanna, and Banka, Siddharth

Published
2024
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5. Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort

Author

Dias, Kerith-Rae, Shrestha, Rupendra, Schofield, Deborah, Evans, Carey-Anne, O’Heir, Emily, Zhu, Ying, Zhang, Futao, Standen, Krystle, Weisburd, Ben, Stenton, Sarah L., Sanchis-Juan, Alba, Brand, Harrison, Talkowski, Michael E., Ma, Alan, Ghedia, Sondy, Wilson, Meredith, Sandaradura, Sarah A., Smith, Janine, Kamien, Benjamin, Turner, Anne, Bakshi, Madhura, Adès, Lesley C., Mowat, David, Regan, Matthew, McGillivray, George, Savarirayan, Ravi, White, Susan M., Tan, Tiong Yang, Stark, Zornitza, Brown, Natasha J., Pérez-Jurado, Luis A., Krzesinski, Emma, Hunter, Matthew F., Akesson, Lauren, Fennell, Andrew Paul, Yeung, Alison, Boughtwood, Tiffany, Ewans, Lisa J., Kerkhof, Jennifer, Lucas, Christopher, Carey, Louise, French, Hugh, Rapadas, Melissa, Stevanovski, Igor, Deveson, Ira W., Cliffe, Corrina, Elakis, George, Kirk, Edwin P., Dudding-Byth, Tracy, Fletcher, Janice, Walsh, Rebecca, Corbett, Mark A., Kroes, Thessa, Gecz, Jozef, Meldrum, Cliff, Cliffe, Simon, Wall, Meg, Lunke, Sebastian, North, Kathryn, Amor, David J., Field, Michael, Sadikovic, Bekim, Buckley, Michael F., O’Donnell-Luria, Anne, and Roscioli, Tony

Published
2024
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7. Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

Author

Agrawal, Pankaj, Armstrong Scott, Daryl, Barkoudah, Elizabeth, Bellini, Melissa, Beneteau, Claire, Bjørgo, Kathrine, Brooks, Alice, Brown, Natasha, Castle, Alison, Castro, Diana, Chorin, Odelia, Cleghorn, Mark, Clement, Emma, Coman, David, Costin, Carrie, Devriendt, Koen, Dong, Dexin, Dries, Annika, Duelund Hjortshøj, Tina, Dyment, David, Eng, Christine, Genetti, Casie, Grano, Siera, Henneman, Peter, Heron, Delphine, Hoffmann, Katrin, Hom, Jason, Du, Haowei, Iascone, Maria, Isidor, Bertrand, Järvelä, Irma E., Jones, Julie, Keren, Boris, Koenig, Mary Kay, Kohlhase, Jürgen, Lalani, Seema, Le Caignec, Cedric, Lewis, Andi, Liu, Pengfei, Lovgren, Alysia, Lupski, James R., Lyons, Mike, Lysy, Philippe, Manning, Melanie, Marcelis, Carlo, McLean, Scott Douglas, Mercie, Sandra, Mertens, Mareike, Molin, Arnaud, Nizon, Mathilde, Nugent, Kimberly Margaret, Öhman, Susanna, O'Leary, Melanie, Okashah Littlejohn, Rebecca, Petit, Florence, Pfundt, Rolph, Pottocki, Lorraine, Raas-Rotschild, Annick, Ranguin, Kara, Revencu, Nicole, Rosenfeld, Jill, Rhodes, Lindsay, Santos Simmaro, Fernando, Sals, Karen, Schieving, Jolanda, Schrauwen, Isabelle, Schuurs-Hoeijmakers, Janneke H.M., Seaby, Eleanor G., Sheffer, Ruth, Snijders Blok, Lot, Sørensen, Kristina P., Srivastava, Siddharth, Stark, Zornitza, Stoeva, Radka, Stutterd, Chloe, Tan, Natalie B., Mathiesen Torring, Pernille, Vanakker, Olivier, van der Laan, Liselot, Ververi, Athina, Villavicencio-Lorini, Pablo, Vincent, Marie, Wand, Dorothea, Wessels, Marja, White, Sue, Wojcik, Monica H., Wu, Nan, Zhao, Sen, Pérez Baca, María del Rocío, Jacobs, Eva Z., Vantomme, Lies, Leblanc, Pontus, Bogaert, Elke, Dheedene, Annelies, De Cock, Laurenz, Haghshenas, Sadegheh, Foroutan, Aidin, Levy, Michael A., Kerkhof, Jennifer, McConkey, Haley, Chen, Chun-An, Batzir, Nurit Assia, Wang, Xia, Palomares, María, Carels, Marieke, Dermaut, Bart, Sadikovic, Bekim, Menten, Björn, Yuan, Bo, Vergult, Sarah, and Callewaert, Bert

Published
2024
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10. Inherited variants in CHD3 show variable expressivity in Snijders Blok-Campeau syndrome

Author

van der Spek, Jet, den Hoed, Joery, Snijders Blok, Lot, Dingemans, Alexander J.M., Schijven, Dick, Nellaker, Christoffer, Venselaar, Hanka, Astuti, Galuh D.N., Barakat, Tahsin Stefan, Bebin, E. Martina, Beck-Wödl, Stefanie, Beunders, Gea, Brown, Natasha J., Brunet, Theresa, Brunner, Han G., Campeau, Philippe M., Čuturilo, Goran, Gilissen, Christian, Haack, Tobias B., Hüning, Irina, Husain, Ralf A., Kamien, Benjamin, Lim, Sze Chern, Lovrecic, Luca, Magg, Janine, Maver, Ales, Miranda, Valancy, Monteil, Danielle C., Ockeloen, Charlotte W., Pais, Lynn S., Plaiasu, Vasilica, Raiti, Laura, Richmond, Christopher, Rieß, Angelika, Schwaibold, Eva M.C., Simon, Marleen E.H., Spranger, Stephanie, Tan, Tiong Yang, Thompson, Michelle L., de Vries, Bert B.A., Wilkins, Ella J., Willemsen, Marjolein H., Francks, Clyde, Vissers, Lisenka E.L.M., Fisher, Simon E., and Kleefstra, Tjitske

Published
2022
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11. Using Structured Writing Communities to Facilitate Undergraduate Research Writing

Author

Brown, Natasha R.

Abstract

This article outlines a structured writing community activity originally created to assist communication majors complete their capstone projects. This activity draws upon the Writing Accountability Group (WAG) strategy that has been utilized to facilitate graduate student and early career faculty writing. The current article provides an overview of a semester-long activity that builds upon the WAG format by providing several avenues of additional support to help undergraduate students establish goals and make incremental progress on a specified project over the course of the semester or quarter session. Information regarding how to facilitate a structured writing community as well as potential assessments are provided. Strategies to help instructors overcome barriers to success are also outlined. Courses: Communication Capstone, Communication Theory, Research Methods, or any other course that requires a high-stakes assignment. Objectives: Students will (1) develop achievable short-term goals related to project completion; (2) prioritize tasks associated with project completion; and subsequently (3) execute and submit a completed project.

Published
2021
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12. THUMPD1 bi-allelic variants cause loss of tRNA acetylation and a syndromic neurodevelopmental disorder

Author

Broly, Martin, Polevoda, Bogdan V., Awayda, Kamel M., Tong, Ning, Lentini, Jenna, Besnard, Thomas, Deb, Wallid, O’Rourke, Declan, Baptista, Julia, Ellard, Sian, Almannai, Mohammed, Hashem, Mais, Abdulwahab, Ferdous, Shamseldin, Hanan, Al-Tala, Saeed, Alkuraya, Fowzan S., Leon, Alberta, van Loon, Rosa L.E., Ferlini, Alessandra, Sanchini, Mariabeatrice, Bigoni, Stefania, Ciorba, Andrea, van Bokhoven, Hans, Iqbal, Zafar, Al-Maawali, Almundher, Al-Murshedi, Fathiya, Ganesh, Anuradha, Al-Mamari, Watfa, Lim, Sze Chern, Pais, Lynn S., Brown, Natasha, Riazuddin, Saima, Bézieau, Stéphane, Fu, Dragony, Isidor, Bertrand, Cogné, Benjamin, and O’Connell, Mitchell R.

Published
2022
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13. Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Author

Abdulrasool, Ghusoon, Akesson, Lauren S., Al Eryani, Ghamdan, Al-Shinnag, Mohammad, Arts, Peer, Bagnall, Richard, Baker, Naomi L., Barnett, Christopher, Beecroft, Sarah, Bennetts, Bruce, Berbic, Marina, Beshay, Victoria, Black, Michael, Blackburn, Jim, Blombery, Piers, Boggs, Kirsten, Bournazos, Adam M., Branford, Susan, Breen, Jimmy, Brown, Natasha J., Bryen, Samantha J., Burnett, Leslie, Canson, Daffodil, Cheong, Pak, Chew, Edward, Chong, Belinda, Christodoulou, John, Chung, Seo-Kyung, Clark, Mike, Cliffe, Corrina, Cole, Melissa, Collins, Felicity, Compton, Alison, Cooper, Antony, Cooper, Sandra T., Corbett, Mark, Cowley, Mark, Davis, Mark R., Delatycki, Martin, Dudding, Tracy, Edwards, Matthew, Eggers, Stefanie, Ewans, Lisa J., Eyras, Eduardo, Faiz, Fathimath, Fernandez, Miriam Fanjul, Fellowes, Andrew, Fennell, Andrew, Field, Michael, Fleischer, Ron, Folland, Chiara, Fox, Lucy, Freckmann, Mary-Louise, Gaff, Clara, Galea, Melanie, Ghaoui, Roula, Goel, Himanshu, Gornanitis, Ilias, Ha, Thuong, Hanna, Bernadette, Harraway, James, Hayashi, Rippei, Hayes, Ian, Henderson, Alex, Hesson, Luke, Heyer, Erin, Hildebrand, Michael, Hipwell, Michael, Ho, Gladys, Horton, Ari E., Hoskins, Cass, Hunter, Matthew F., Jackson, Matilda, James, Paul, Jones, Kristi J., Wong, Justin Jong-Leong, Josephi-Taylor, Sarah, Joshi, Himanshu, Kassahn, Karin, Kaub, Peter, Kevin, Lucy, Kirk, Edwin, Krzesinski, Emma, Kumble, Smitha, Kummerfeld, Sarah, Laing, Nigel, Lau, Chiyan, Lee, Eric, Leighton, Sarah, Lundie, Ben, Lunke, Sebastian, Mallawaarachchi, Amali, Mayoh, Chelsea, McGaughran, Julie, McLean, Alison, McPhillips, Mary, Meldrum, Cliff, Middleton, Edwina, Milnes, Di, Mina, Kym, Mowat, David, Nisselle, Amy, Oates, Emily, Oshlack, Alicia, Palmer, Elizabeth E., Parasivam, Gayathri, Parsons, Michael, Patel, Chirag, Pinner, Jason R., Quinn, Michael, Rasko, John, Ravenscroft, Gina, Ravine, Anja, Recsei, Krista, Regan, Matthew, Rehn, Jacqueline, Riley, Lisa G., Robertson, Stephen, Ronan, Anne, Roscioli, Tony, Ryland, Georgina, Sadedin, Simon, Sandaradura, Sarah A., Schreiber, Andreas, Scott, Hamish, Scott, Rodney, Semsarian, Christopher, Simons, Cas, Singer, Emma, Smith, Janine M., Smyth, Renee, Spurdle, Amanda, Stark, Zornitza, Sullivan, Patricia, Sundercombe, Samantha, Tan, Tiong Y., Tchan, Michel C., Thompson, Bryony A., Thorburn, David, Toubia, John, Trent, Ronald, Tudini, Emma, Voneague, Irina, Waddell, Leigh, Walker, Logan, Wallis, Mathew, Warnock, Nick, Weatheritt, Robert, White, Deborah, White, Susan M., Williams, Mark G., Wilson, Meredith J., Winship, Ingrid, Worgan, Lisa, Wright, Dale C., Wu, Kathy, Yeung, Alison, Ziolowski, Andrew, Bommireddipalli, Shobhana, Ades, Lesley, Alexander, Stephen I., Archibald, Alison D., Balasubramaniam, Shanti, Berman, Yemima, Bojadzieva, Jasmina, Buckley, Michael F., Dawes, Ruebena, Donaldson, Liz, Downie, Lilian, Edwards, Caitlin, Engel, Amanda, Gallacher, Lyndon, Gear, Russell, Goh, Shuxiang, Goodwin, Linda, Higgins, Megan, Hopper, Bruce K., Huq, Aamira J., Kumar, Kishore R., Lemckert, Frances, Leventer, Richard J., Lindsey-Temple, Suzanna E., Ma, Alan, Macaskill, Steven, Marty, Melanie, Marum, Justine E., McCarthy, Hugh J., Menezes, Manoj P., Mohammad, Shekeeb, Niaz, Aram, Patel, Shilpan G., Phelan, Dean, Rajagopalan, Sulekha, Rodgers, Jonathan, Rodrigues, Miriam, Roxburgh, Richard H., Sachdev, Rani, Samarasekera, Ruvishani, Savva, Elena, Schindler, Tim, Shah, Margit, Sinnerbrink, Ingrid B., Smith, Richard J., Springer, Amanda, Strom, Samuel P., Sue, Carolyn M., Tan, Kenneth, Tantsis, Esther, Trainer, Alison H., van Spaendonck-Zwarts, Karin, Walsh, Rebecca, Warwick, Linda, White, Stephanie, Wong, Wui Kwan, Yap, Patrick, and Young, Helen

Published
2022
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15. Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy

Author

Voisin, Norine, Schnur, Rhonda E., Douzgou, Sofia, Hiatt, Susan M., Rustad, Cecilie F., Brown, Natasha J., Earl, Dawn L., Keren, Boris, Levchenko, Olga, Geuer, Sinje, Verheyen, Sarah, Johnson, Diana, Zarate, Yuri A., Hančárová, Miroslava, Amor, David J., Bebin, E. Martina, Blatterer, Jasmin, Brusco, Alfredo, Cappuccio, Gerarda, Charrow, Joel, Chatron, Nicolas, Cooper, Gregory M., Courtin, Thomas, Dadali, Elena, Delafontaine, Julien, Del Giudice, Ennio, Doco, Martine, Douglas, Ganka, Eisenkölbl, Astrid, Funari, Tara, Giannuzzi, Giuliana, Gruber-Sedlmayr, Ursula, Guex, Nicolas, Heron, Delphine, Holla, Øystein L., Hurst, Anna C.E., Juusola, Jane, Kronn, David, Lavrov, Alexander, Lee, Crystle, Lorrain, Séverine, Merckoll, Else, Mikhaleva, Anna, Norman, Jennifer, Pradervand, Sylvain, Prchalová, Darina, Rhodes, Lindsay, Sanders, Victoria R., Sedláček, Zdeněk, Seebacher, Heidelis A., Sellars, Elizabeth A., Sirchia, Fabio, Takenouchi, Toshiki, Tanaka, Akemi J., Taska-Tench, Heidi, Tønne, Elin, Tveten, Kristian, Vitiello, Giuseppina, Vlčková, Markéta, Uehara, Tomoko, Nava, Caroline, Yalcin, Binnaz, Kosaki, Kenjiro, Donnai, Dian, Mundlos, Stefan, Brunetti-Pierri, Nicola, Chung, Wendy K., and Reymond, Alexandre

Published
2021
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16. The Impact of Undermining Coparenting on the Mental and Physical Health Outcomes of Black Fathers: The Role of Depression and Restrictive Emotionality.

Author

Lemmons, Brianna P., Jackson, Matthew C., Coleman, Ailton, O'Gara, Jaimie L., De Veauuse Brown, Natasha, Alston, Tasha L., Tolliver Sr., Corey A., and Rollins, Latrice S.

Subjects
BLACK men, MEN'S health, SOCIAL determinants of health, CHILD rearing, PARENTING, FATHERHOOD
Abstract

The parenting literature has established the coparenting relationship as central to the parenting behaviors and outcomes of men. The construct of coparenting encompasses supportive efforts among individuals that facilitate the rearing of children and unsupportive actions that can undermine parenting efforts (Merrifield & Gamble, 2013). Few studies have examined undermining coparenting as an experience that shapes Black men's health outcomes. In this study, we apply the social determinants of health framework to examine the impact of Black fathers' perceptions of undermining coparenting on their self-reported ratings of mental and physical health. Using a nationally representative sample of Black men (n = 255), correlational analyses revealed perceptions of undermining coparenting to be a significant predictor of higher levels of anger and poorer perceptions of physical health. These relationships were found to be mediated by depressive symptoms and moderated by restrictive emotionality. It is recommended that the negative impact of undermining coparenting on health be considered as a potential comorbidity contributing to negative health outcomes for Black men. This study adds to the literature on coparenting, Black men's health, and Black fatherhood more generally and urges policymakers and practitioners to consider undermining as an often overlooked, but significant, social determinant of health impacting the well-being of Black men. We also offer recommendations for promoting Black men's health by educating families on the effects of undermining and offering the supports necessary for achieving positive coparenting dynamics. [ABSTRACT FROM AUTHOR]

Published
2024
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17. A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients

Author

Yeung, Alison, Tan, Natalie B., Tan, Tiong Y., Stark, Zornitza, Brown, Natasha, Hunter, Matthew F., Delatycki, Martin, Stutterd, Chloe, Savarirayan, Ravi, Mcgillivray, George, Stapleton, Rachel, Kumble, Smitha, Downie, Lilian, Regan, Matthew, Lunke, Sebastian, Chong, Belinda, Phelan, Dean, Brett, Gemma R., Jarmolowicz, Anna, Prawer, Yael, Valente, Giulia, Smagarinsky, Yana, Martyn, Melissa, McEwan, Callum, Goranitis, Ilias, Gaff, Clara, and White, Susan M.

Published
2020
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18. NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

Author

Guo, Hui, Zhang, Qiumeng, Dai, Rujia, Yu, Bin, Hoekzema, Kendra, Tan, Jieqiong, Tan, Senwei, Jia, Xiangbin, Chung, Wendy K., Hernan, Rebecca, Alkuraya, Fowzan S., Alsulaiman, Ahood, Al-Muhaizea, Mohammad A., Lesca, Gaetan, Pons, Linda, Labalme, Audrey, Laux, Linda, Bryant, Emily, Brown, Natasha J., Savva, Elena, Ayres, Samantha, Eratne, Dhamidhu, Peeters, Hilde, Bilan, Frédéric, Letienne-Cejudo, Lucile, Gilbert-Dussardier, Brigitte, Ruiz-Arana, Inge-Lore, Merlini, Jenny Meylan, Boizot, Alexia, Bartoloni, Lucia, Santoni, Federico, Karlowicz, Danielle, McDonald, Marie, Wu, Huidan, Hu, Zhengmao, Chen, Guodong, Ou, Jianjun, Brasch-Andersen, Charlotte, Fagerberg, Christina R., Dreyer, Inken, chun-hui Tsai, Anne, Slegesky, Valerie, McGee, Rose B., Daniels, Brina, Sellars, Elizabeth A., Carpenter, Lori A., Schaefer, Bradley, Sacoto, Maria J. Guillen, Begtrup, Amber, Schnur, Rhonda E., Punj, Sumit, Wentzensen, Ingrid M., Rhodes, Lindsay, Pan, Qian, Bernier, Raphael A., Chen, Chao, Eichler, Evan E., and Xia, Kun

Published
2020
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19. Expanding the clinical and genetic spectrum of ALPK3 variants: Phenotypes identified in pediatric cardiomyopathy patients and adults with heterozygous variants

Author

Herkert, Johanna C., Verhagen, Judith M.A., Yotti, Raquel, Haghighi, Alireza, Phelan, Dean G., James, Paul A., Brown, Natasha J., Stutterd, Chloe, Macciocca, Ivan, Leong, Kai'En, Bulthuis, Marian L.C., van Bever, Yolande, van Slegtenhorst, Marjon A., Boven, Ludolf G., Roberts, Amy E., Agarwal, Radhika, Seidman, Jonathan, Lakdawala, Neal K., Fernández-Avilés, Francisco, Burke, Michael A., Pierpont, Mary Ella., Braunlin, Elizabeth, Ḉağlayan, Ahmet Okay, Barge-Schaapveld, Daniela Q.C.M., Birnie, Erwin, van Osch-Gevers, Lennie, van Langen, Irene M., Jongbloed, Jan D.H., Lockhart, Paul J., Amor, David J., Seidman, Christine E., and van de Laar, Ingrid M.B.H.

Published
2020
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21. 'Granta' Names 20 Best Young British Novelists

Author

Crewe, Tom, Catton, Eleanor, Baume, Sara, Brown, Natasha, Grudova, Camilla, Hammad, Isabella, Mackintosh, Sophie, and Owusu, Derek

Subjects
Novelists
Abstract

The literary magazine Granta has revealed its Best of Young British Novelists list. This is the fifth iteration of the list, which Granta presents every 10 years, honoring 20 authors [...]

Published
2023

22. Endophenotyping social cognition in the broader autism phenotype.

Author

Pua, Emmanuel Peng Kiat, Desai, Tarishi, Green, Cherie, Trevis, Krysta, Brown, Natasha, Delatycki, Martin, Scheffer, Ingrid, and Wilson, Sarah

Abstract

Relatives of individuals with autism spectrum disorder (ASD) may display milder social traits of the broader autism phenotype (BAP) providing potential endophenotypic markers of genetic risk for ASD. We performed a case–control comparison to quantify social cognition and pragmatic language difficulties in the BAP (n = 25 cases; n = 33 controls) using the Faux Pas test (FPT) and the Goldman‐Eisler Cartoon task. Using deep phenotyping we then examined patterns of inheritance of social cognition in two large multiplex families and the spectrum of performance in 32 additional families (159 members; n = 51 ASD, n = 87 BAP, n = 21 unaffected). BAP individuals showed significantly poorer FPT performance and reduced verbal fluency with the absence of a compression effect in social discourse compared to controls. In multiplex families, we observed reduced FPT performance in 89% of autistic family members, 63% of BAP relatives and 50% of unaffected relatives. Across all affected families, there was a graded spectrum of difficulties, with ASD individuals showing the most severe FPT difficulties, followed by the BAP and unaffected relatives compared to community controls. We conclude that relatives of probands show an inherited pattern of graded difficulties in social cognition with atypical faux pas detection in social discourse providing a novel candidate endophenotype for ASD. Lay Summary: Relatives of individuals with autism spectrum disorder (ASD) may display milder but qualitatively similar traits known as the broader autism phenotype (BAP). Current knowledge of the BAP is limited and methods to assess traits are not well established. This study aimed to characterize the BAP based on objective measures of social skills. This can allow the identification of BAP traits that indicate genetic risk for ASD in families with many individuals with ASD or the BAP. We studied recognition of socially inappropriate behavior and language (a faux pas) as our objective measure of social cognition, and verbal fluency in social conversation as our objective measure of language pragmatics in 25 individuals with the BAP compared to 33 neurotypical participants. Individuals with the BAP showed atypical social cognition with reduced ability to recognize a faux pas, as well as altered language pragmatics with decreased verbal fluency. We then examined social cognition in 34 families (159 members) with ASD and the BAP. Across all families, autistic individuals showed the weakest faux pas recognition, followed by those with the BAP and relatives without autistic traits compared to community controls. This inherited pattern of graded difficulties in social cognition suggests that atypical faux pas recognition may be a marker of genetic risk for ASD. This may facilitate studies investigating the genetic causes of ASD by providing researchers with objective markers of the BAP to better understand neurodivergence in this population. [ABSTRACT FROM AUTHOR]

Published
2024
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24. Australian healthcare professionals' perspectives on genetic counseling and genetic diagnosis in vascular anomalies.

Author

Garza, Denisse, Hildebrand, Michael S., Penington, Anthony J., Brown, Natasha, and de Silva, Michelle G.

Abstract

Genomic technologies are now utilized for the genetic diagnosis of vascular anomalies. This provides the opportunity for genetic counselors to make a significant contribution to patient care for this complex disease. The aim of this study was to explore Australian healthcare professionals' perspectives on the relatively recent integration of molecular diagnostic testing for vascular anomalies, with or without genetic counseling support. Nine semi‐structured interviews were conducted with Australian healthcare professionals involved in the provision of care for individuals with vascular anomalies. Thematic analysis identified six themes: (1) Molecular diagnosis is beneficial; (2) psychosocial needs can motivate families to pursue a molecular diagnosis; (3) molecular genetic testing for vascular anomalies is complex; (4) genetic service provision is not a one size fits all; (5) a client‐centered approach for genetic service provision can go a long way; and (6) the value of genetic counselors. Based on our findings, implementation of a vascular anomalies genetic diagnostic program inclusive of genetic counseling may be challenging, yet such programs are likely to benefit both patients and their families, as well as healthcare professionals. As this paradigm shift unfolds, genetic counselors have an opportunity to contribute to the vascular anomaly field by educating healthcare professionals and patients, by participating in multidisciplinary clinics to support complex cases and by raising awareness regarding their practice and potential contributions. [ABSTRACT FROM AUTHOR]

Published
2024
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25. A craniosynostosis massively parallel sequencing panel study in 309 Australian and New Zealand patients: findings and recommendations

Author

Lee, Eric, Le, Trang, Zhu, Ying, Elakis, George, Turner, Anne, Lo, William, Venselaar, Hanka, Verrenkamp, Carol-Ann, Snow, Nicole, Mowat, David, Kirk, Edwin Philip, Sachdev, Rani, Smith, Janine, Brown, Natasha Jane, Wallis, Mathew, Barnett, Chris, McKenzie, Fiona, Freckmann, Mary-Louise, Collins, Felicity, Chopra, Maya, Gregersen, Nerine, Hayes, Ian, Rajagopalan, Sulekha, Tan, Tiong Yang, Stark, Zornitza, Savarirayan, Ravi, Yeung, Alison, Adès, Lesley, Gattas, Michael, Gibson, Kate, Gabbett, Michael, Amor, David John, Lattanzi, Wanda, Boyd, Simeon, Haan, Eric, Gianoutsos, Mark, Cox, Timothy Chilton, Buckley, Michael Francis, and Roscioli, Tony

Published
2018
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27. Violence Victimization and Parenting among Black South African Mothers

Author

Goodrum, Nada M., Felix, Rosa, Self-Brown, Shannon, De Veauuse-Brown, Natasha, and Armistead, Lisa P.

Subjects
Victimization -- Analysis, Parenting -- Analysis, Violence against women -- Statistics, Domestic violence -- Analysis -- Demographic aspects -- Surveys, Caregivers -- Demographic aspects -- Surveys -- Behavior, Child abuse -- Analysis -- Statistics, Family and marriage
Abstract

Black South African women and girls face high rates of violence victimization, including physical, sexual, and emotional abuse in childhood and intimate partner violence (IPV) in adulthood. U.S.-based research suggests that violence victimization predicts parenting difficulties, but this relation has not been examined in a South African context. Among a sample of 99 Black South African female caregivers, we examined rates of child abuse, IPV, and cumulative trauma, and we explored the associations between caregivers' victimization history and current parenting quality (i.e., parent-child relationship quality & parental involvement with child). Caregivers completed self-report questionnaires using ACASI software. Hierarchical regression analyses revealed that caregivers reporting childhood physical or sexual abuse were less involved with their children. Caregivers with a history of emotional abuse reported significantly worse parent-child relationship quality. Cumulative trauma was associated with worse parental involvement and parent-child relationship quality. Results reveal relatively high rates of interpersonal violence victimization among this convenience sample of Black South African women, as well as unique relations between forms of victimization and specific parenting practices. The findings highlight the importance of behavioral parent training interventions with a focus on specific assessment of parents' victimization experiences., Author(s): Nada M. Goodrum [sup.1] , Rosa Felix [sup.1] , Shannon Self-Brown [sup.2] , Natasha De Veauuse-Brown [sup.2] , Lisa P. Armistead [sup.1] Author Affiliations: (Aff1) 0000 0004 1936 7400, [...]

Published
2019
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31. Systematic Review—Type B Insulin Resistance With Isolated Hypoglycemia and Suppressed Insulin.

Author

Brown, Natasha and Elston, Marianne S

Abstract

Objective Type B insulin resistance syndrome is a rare autoimmune disorder affecting glucose homeostasis, characterized by serum autoantibodies to the insulin receptor (AIRAbs). Patients typically present with severe insulin resistance. A mixed hyper- and hypoglycemia phenotype may also occur, as may isolated hypoglycemia. The classic biochemical pattern comprises elevated insulin levels despite hypoglycemia; however, a small proportion of cases demonstrate "isolated hypoglycemia with low insulin." The primary objectives of this systematic review were to identify the clinical characteristics and outcome of this subgroup. Design Systematic review of cases with hypoglycemia with suppressed insulin. Exclusions: hyperglycemia, elevated insulin, AIRAbs not confirmed. Methods PubMed, Medline, and Embase databases were searched up until February 2023 and complemented by manual citation search. The Joanna Briggs Institute critical appraisal checklist for case reports was used to assess bias. Results A total of 5342 articles were identified after duplicate removal. Eleven, all case reports, met all inclusion criteria and were included. Cases belonging to this subgroup were more diverse in sex, age, and ethnicity when compared with type B insulin resistance as a whole. Of the 11 cases, 3 developed lymphoma. High-dose corticosteroid therapy appeared to be effective therapy for the hypoglycemia, with often rapid response. Conclusions Isolated hypoglycemia with low insulin forms a rare subgroup of type B insulin resistance. These patients lack the common characteristics of hyperinsulinemic hypoglycemia and hyperglycemia/insulin resistance. Furthermore, while coexisting autoimmune disease is commonly observed, there is potentially an association with aggressive lymphoma, the onset of which may be delayed. [ABSTRACT FROM AUTHOR]

Published
2024
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32. De novo enhancer deletion of LMX1B produces a mild nail‐patella clinical phenotype.

Author

Francis, David, Lall, Paula, Ayres, Samantha, Van Bergen, Nicole J., Christodoulou, John, Brown, Natasha J., and Kalitsis, Paul

Subjects
PHENOTYPES, EMBRYOLOGY, GENETIC code, TRANSCRIPTION factors, HOMEOBOX genes
Abstract

Critical genes involved in embryonic development are often transcription factors, regulating many downstream genes. LMX1B is a homeobox gene that is involved in formation of the limbs, eyes and kidneys, heterozygous loss‐of‐function sequence variants and deletions cause Nail‐Patella syndrome. Most of the reported variants are localised within the gene's coding sequence, however, approximately 5%–10% of affected individuals do not have a pathogenic variant identified within this region. In this study, we present a family with four affected individuals across two generations with a deletion spanning a conserved upstream LMX1B‐binding sequence. This deletion is de novo in the mother of three affected children. Furthermore, in this family, the manifestations appear limited to the nails and limbs, and therefore may reflect an attenuated phenotype of the classic Nail‐Patella phenotype that includes ophthalmological and renal manifestations. [ABSTRACT FROM AUTHOR]

Published
2024
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33. Feasibility of Ultra-Rapid Exome Sequencing in Critically Ill Infants and Children With Suspected Monogenic Conditions in the Australian Public Health Care System

Author

Lunke, Sebastian, Eggers, Stefanie, Wilson, Meredith, Patel, Chirag, Barnett, Christopher P., Pinner, Jason, Sandaradura, Sarah A., Buckley, Michael F., Krzesinski, Emma I., de Silva, Michelle G., Brett, Gemma R., Boggs, Kirsten, Mowat, David, Kirk, Edwin P., Adès, Lesley C., Akesson, Lauren S., Amor, David J., Ayres, Samantha, Baxendale, Anne, Borrie, Sarah, Bray, Alessandra, Brown, Natasha J., Chan, Cheng Yee, Chong, Belinda, Cliffe, Corrina, Delatycki, Martin B., Edwards, Matthew, Elakis, George, Fahey, Michael C., Fennell, Andrew, Fowles, Lindsay, Gallacher, Lyndon, Higgins, Megan, Howell, Katherine B., Hunt, Lauren, Hunter, Matthew F., Jones, Kristi J., King, Sarah, Kumble, Smitha, Lang, Sarah, Le Moing, Maelle, Ma, Alan, Phelan, Dean, Quinn, Michael C. J., Richards, Anna, Richmond, Christopher M., Riseley, Jessica, Rodgers, Jonathan, Sachdev, Rani, Sadedin, Simon, Schlapbach, Luregn J., Smith, Janine, Springer, Amanda, Tan, Natalie B., Tan, Tiong Y., Temple, Suzanna L., Theda, Christiane, Vasudevan, Anand, White, Susan M., Yeung, Alison, Zhu, Ying, Martyn, Melissa, Best, Stephanie, Roscioli, Tony, Christodoulou, John, and Stark, Zornitza

Published
2020
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37. Memorable Diet and Exercise Messages Recalled by Black Women.

Author

Brown, Natasha R. and Davis, LaShara A.

Subjects
*DIET, *EXERCISE, *BLACK women, *AUTONOMY (Psychology), *SARCASM
Abstract

The current project, guided by the memorable messages framework and Self -Determinism Theory, sought to uncover information regarding messages Black women encounter that may influence their health-related behavior. More specifically, the project focused on learning more about the diet and exercise related messages these individuals have received. Participants completed an online survey. Analysis of 122 participant responses from Black women (M = 37.04; SD = 9.10), primarily living in the United States, revealed many generic messages as well as communication specifically focused on diet and exercise practices. Messages focusing on the bodily appearance of the message recipient were also identified. Results indicate future research should investigate the influence of message source, content, and valence on the diet and exercise habits of Black women. [ABSTRACT FROM AUTHOR]

Published
2023
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38. College Student Mental Health and Wellbeing Prior to and during the COVID-19 Pandemic.

Author

McLafferty, Margaret, Ward, Caoimhe, Walsh, Colum P., O'Neill, Siobhan, Bjourson, Anthony J., McHugh, Rachel, Brown, Natasha, McBride, Louise, Brady, John, and Murray, Elaine K.

Subjects
COVID-19 pandemic, MENTAL health of students, WELL-being, MENTAL illness, COLLEGE students
Abstract

Student mental health was a growing concern globally prior to the onset of the COVID-19 pandemic. The aim of this study was to assess the impact of the pandemic and associated restrictions on the psychological wellbeing of college students. Baseline data were collected pre-pandemic in September 2019 among students attending a university in Northern Ireland and an Institute of Technology in the Republic of Ireland. Surveys were also conducted with this cohort during the pandemic, at the start of the academic years 2020 and 2021 (499 students fully completed all three waves). A follow-up survey was conducted at the end of their third year, in summer 2022 (n = 229). High levels of mental health problems were already present among students commencing college. The subsequent pandemic had a very negative impact on student's academic experience and other aspects of life. Rates of depression (PHQ-9) increased significantly from the onset of the pandemic and remained high. Anxiety (GAD-7) initially decreased but then escalated at the end of college. The study highlights the importance of early intervention and makes recommendations for addressing the needs of students during times of stress. Additional supports may be required to deal with the long-lasting impact of the pandemic. [ABSTRACT FROM AUTHOR]

Published
2023
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39. Initial Findings from a Feasibility Trial Examining the SafeCare Dad to Kids Program with Marginalized Fathers

Author

Self-Brown, Shannon, Osborne, Melissa C., Lai, Betty S., De Veauuse Brown, Natasha, Glasheen, Theresa L., and Adams, Melissa C.

Subjects
Parent training -- Comparative analysis, Father-child relations -- Comparative analysis, Child abuse -- Control, Family and marriage
Abstract

Few studies have explored the direct impact of behavioral parent training programs on child maltreatment behaviors among marginalized, at-risk fathers. This feasibility study examined SafeCare® Dad to Kids (Dad2K), an augmented version of the evidence-based child maltreatment prevention program SafeCare, to determine the acceptability and initial efficacy of the program for improving father parenting skills and reducing maltreatment risk. Ninety-nine fathers were enrolled in the study and randomized to the SafeCare Dad2K Intervention (n = 51) or comparison (n = 48). Intervention fathers participated in 6 home visiting sessions and comparison fathers received parenting materials via mail. All fathers participating in the study completed a baseline and 8-week assessment (post-intervention) of maltreatment behaviors. In addition, intervention fathers completed feasibility and parenting skill measures. A significant main effect emerged indicating decreases for both groups in psychologically aggressive behaviors. No significant group by time findings emerged for child maltreatment behaviors. Father intervention completers endorsed high satisfaction ratings for the program and demonstrated significant improvements in targeted father-child interaction skills. Based on the high rates of acceptability and initial improvement in positive parenting skills, findings demonstrate the feasibility for involving at-risk fathers in behavioral parent training programs targeting child maltreatment prevention., Author(s): Shannon Self-Brown [sup.1] , Melissa C. Osborne [sup.1] , Betty S. Lai [sup.1] , Natasha De Veauuse Brown [sup.1] , Theresa L. Glasheen [sup.1] , Melissa C. Adams [sup.2] [...]

Published
2017
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40. Public Perception of Cancer Survival Rankings

Author

Jensen, Jakob D., Scherr, Courtney L., Brown, Natasha, Jones, Christina, and Christy, Katheryn

Abstract

Past research has observed that certain subgroups (e.g., individuals who are overweight/obese) have inaccurate estimates of survival rates for particular cancers (e.g., colon cancer). However, no study has examined whether the lay public can accurately rank cancer survival rates in comparison with one another (i.e., rank cancers from most deadly to least deadly). A sample of 400 Indiana adults aged 18 to 89 years ("M" = 33.88 years) completed a survey with questions regarding perceived cancer survival rates. Most cancers were ranked accurately; however, breast and stomach cancer survival rankings were highly distorted such that breast cancer was perceived to be significantly more deadly and stomach cancer significantly less deadly than reality. Younger participants also overestimated the survival rate for pancreatic cancer. These distortions mirror past content analytic work demonstrating that breast, stomach, and pancreatic cancers are misrepresented in the news.

Published
2013
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43. The clinical and molecular spectrum of QRICH1 associated neurodevelopmental disorder

Author

Kumble, Smitha, Levy, Amanda, Punetha, Jaya, Gao, Hua, Ah Mew, Nicholas, Anyane-Yeboa, Kwame, Benke, Paul, Berger, Sara, Bjerglund, Lise, Campos-Xavier, Belinda, Ciliberto, Michael, Cohen, Julie, Comi, Anne, Curry, Cynthia, Damaj, Lena, Denommé-Pichon, Anne-Sophie, Emrick, Lisa, Faivre, Laurence, Fasano, Mary Beth, Fiévet, Alice, Finkel, Richard, García-Miñaúr, Sixto, Gerard, Amanda, Gomez-Puertas, Paulino, Guillen Sacoto, Maria, Hoffman, Trevor, Howard, Lillian, Iglesias, Alejandro, Izumi, Kosuke, Larson, Austin, Leiber, Anja, Lozano, Reymundo, Marcos-Alcalde, Iñigo, Mintz, Cassie, Mullegama, Sureni, Møller, Rikke, Odent, Sylvie, Oppermann, Henry, Ostergaard, Elsebet, Pacio-Míguez, Marta, Palomares-Bralo, Maria, Parikh, Sumit, Paulson, Anna, Platzer, Konrad, Posey, Jennifer, Potocki, Lorraine, Revah-Politi, Anya, Rio, Marlene, Ritter, Alyssa, Robinson, Scott, Rosenfeld, Jill, Santos-Simarro, Fernando, Anyane‐Yeboa, Kwame, Campos‐Xavier, Belinda, Denommé‐Pichon, Anne‐Sophie, García‐Miñaúr, Sixto, Gomez‐Puertas, Paulino, Marcos‐Alcalde, Iñigo, Pacio‐Míguez, Marta, Palomares‐Bralo, Maria, Revah‐Politi, Anya, Santos‐Simarro, Fernando, Sombra, Sérgio Sousa, Wéber, Mathys, Xie, Yili, Chung, Wendy K., Brown, Natasha, Tümer, Zeynep, Murdoch Children's Research Institute (MCRI), Copenhagen University Hospital, Baylor College of Medicine (BCM), Baylor University, Icahn School of Medicine at Mount Sinai [New York] (MSSM), CHU Pontchaillou [Rennes], Université Bourgogne Franche-Comté [COMUE] (UBFC), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Institut Gustave Roussy (IGR), Institut de Génétique et Développement de Rennes (IGDR), Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )-Centre National de la Recherche Scientifique (CNRS)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES), Centre de référence Maladies Rares CLAD-Ouest [Rennes], CIBER de Enfermedades Raras (CIBERER), GeneDx [Gaithersburg, MD, USA], Columbia University Irving Medical Center (CUIMC), University of Melbourne, University of Copenhagen = Københavns Universitet (KU), Spanish Ministry of Science / State Research Agency projects. Grant Numbers: DTS20-00024, RTC-2017-6494-1, RTI2018-094434-B-I00 SFARI and JPB Foundation, Raregenomics network, financed by the Consejería de Educación de la C. de Madrid. Grant Number: S2017 / BMD-3721, European Comission JPIAMR projects CONNECT and AEPIC, National Center for Advancing Translational Sciences, National Institutes of Health. Grant Number: UL1TR001873, National Human Genome Research Institute (NHGRI) and National Heart, Lung, and Blood Institute (NHLBI). Grant Number: UM1 HG006542 Undiagnosed Diseases Network, European Social Fund, Rashid Family Fund, NIH Common Fund, through the Office of Strategic Coordination/Office of the NIH Director. Grant Number: U01HG007709, ISCIII, Ministerio de Ciencia e Innovación. Grant Number: PI19/01681, Baylor Hopkins Center for Mendelian Genomics. Grant Numbers: NHGRI K08 HG008986, NHGRI/NLHBI UM1 HG006542, Centro Portugal Regional Operational Programme (CENTRO 2020), under the Portugal 2020 Partnership Agreement, through the European Regional Development Fund (ERDF). Grant Number: CENTRO-01-0247-FEDER-017800, Département de biologie et pathologie médicales [Gustave Roussy], Université de Rennes (UR)-Centre National de la Recherche Scientifique (CNRS)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), and University of Copenhagen = Københavns Universitet (UCPH)

Subjects
Autism Spectrum Disorder, [SDV]Life Sciences [q-bio], Dwarfism, Biology, Bioinformatics, Weight Gain, Short stature, 03 medical and health sciences, 0302 clinical medicine, Neurodevelopmental disorder, Neuroimaging, Seizures, variable expressivity, Intellectual disability, Genetics, medicine, Missense mutation, Humans, QRICH1, hypotonia, Genetics (clinical), 030304 developmental biology, 0303 health sciences, medicine.disease, Hypotonia, short stature, Scoliosis, variant, Autism spectrum disorder, Neurodevelopmental Disorders, intellectual disability, Muscle Hypotonia, medicine.symptom, 030217 neurology & neurosurgery
Abstract

De novo variants in QRICH1 (Glutamine-rich protein 1) has recently been reported in 11 individuals with intellectual disability. The function of QRICH1 is largely unknown but it is likely to play a key role in the unfolded response of endoplasmic reticulum (ER) stress through transcriptional control of proteostasis. In this study, we present 27 additional individuals and delineate the clinical and molecular spectrum of the individuals (n=38) with QRICH1 variants. The main clinical features were mild to moderate developmental delay/intellectual disability (71%), non-specific facial dysmorphism (92%) and hypotonia (39%). Additional findings included poor weight gain (29%), short stature (29%), autism spectrum disorder (29%), seizures (24%) and scoliosis (18%). Minor structural brain abnormalities were reported in 52% of the individuals with brain imaging. Truncating or splice variants were found in 28 individuals and 10 had missense variants. Four variants were inherited from mildly affected parents. This study confirms that heterozygous QRICH1 variants cause a neurodevelopmental disorder including short stature and expands the phenotypic spectrum to include poor weight gain, scoliosis, hypotonia, minor structural brain anomalies, and seizures. Inherited variants from mildly affected parents are reported for the first time, suggesting variable expressivity. This article is protected by copyright. All rights reserved.

Published
2021
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45. EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

Author

Byrne, Susan, Jansen, Lara, U-King-Im, Jean-Marie, Siddiqui, Ata, Lidov, Hart G. W., Bodi, Istvan, Smith, Luke, Mein, Rachael, Cullup, Thomas, Dionisi-Vici, Carlo, Al-Gazali, Lihadh, Al-Owain, Mohammed, Bruwer, Zandre, Al Thihli, Khalid, El-Garhy, Rana, Flanigan, Kevin M., Manickam, Kandamurugu, Zmuda, Erik, Banks, Wesley, Gershoni-Baruch, Ruth, Mandel, Hanna, Dagan, Efrat, Raas-Rothschild, Annick, Barash, Hila, Filloux, Francis, Creel, Donnell, Harris, Michael, Hamosh, Ada, Kölker, Stefan, Ebrahimi-Fakhari, Darius, Hoffmann, Georg F., Manchester, David, Boyer, Philip J., Manzur, Adnan Y., Lourenco, Charles Marques, Pilz, Daniela T., Kamath, Arveen, Prabhakar, Prab, Rao, Vamshi K., Rogers, R. Curtis, Ryan, Monique M., Brown, Natasha J., McLean, Catriona A., Said, Edith, Schara, Ulrike, Stein, Anja, Sewry, Caroline, Travan, Laura, Wijburg, Frits A., Zenker, Martin, Mohammed, Shehla, Fanto, Manolis, Gautel, Mathias, and Jungbluth, Heinz

Published
2016
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46. Contributors

Author

Adams, Axel, Affun-Adegbulu, Clara, Al-Rasheed, Rakan S., Alaska, Yasser A., Aldawas, Abdulaziz D., Alesa, Saleh Ali, Alexander, George A., Alhadhira, Abdullah Ahmed, Alhajjaj, Fahad Saleha, Alhazmi, Hazem H., Alhussaini, Zainab Abdullah, Aljerian, Nawfal, Aljohani, Majed, AlKhaldi, Khaldoon H., Alkhattabi, Eyad, Allen, Bryant, Almand, Austin, Alnoaimi, Moza M., Alotaibi, Mohammad, Alpert, Evan Avraham, Alrusayni, Yasir A., Alshammari, Mai, Alsulimani, Loui K., Amanullah, Siraj, Anderson, Arian, Arastehmanesh, David, Ardalan, Ali, Argote-Araméndiz, Killiam A., Artenstein, Andrew W., Bailey, Olivia E., Baker, Russell, Balsari, Satchit, Banner, Gregory T., M, Fermin Barrueto, Bartels, Susan A., Baugh, Joshua J., Berg, Frederic, Bhola, Vijai, Binder, William, Bortolin, Michelangelo, Bounes, Vincent, Bouton, Michael, Brown, Natasha, Jr, Frederick M. Burkle, Burnett, Lynn Barkley, Burns, Michele M., Sr, Nicholas V. Cagliuso, Cahill, John, Callaway, David W., Caneva, Duane C., Cattamanchi, Srihari, Caycedo, Alejandra, Cetaruk, Edward W., Chacko, Sneha, Chang, James C., Chiang, Crystal, Chiu, David T., Ciottone, Gregory R., Ciottone, Jonathan Peter, Ciottone, Melissa A., Ciottone, Robert A., Ciottone, Robert G., Ciottone, Vigen G., Clark, Alexander, Clark, Jonathan, Conley, Sean P., Cono, Joanne, Cooper, Arthur, Cormier, Scott B., Court, Michael F., Cunningham, Cord W., Czarnecki, Fabrice, Davis, Supriya, Davis, Timothy E., DeMers, Gerard, Dilling, Sharon, Djalali, Ahmadreza, Donahoe, Timothy, Donahue, Joseph, Dresser, Caleb, Dylik, Jason, Easter, Benjamin, Eastman, Alexander, Ebbeling, Laura, Emetarom, Chigozie, Eyal, Nir, Eyre, Andrew J., Freeman, David J., Friedman, Franklin D., Fritz, Christie, Fung, Frederick, Gallahue, Fiona E., Garbern, Stephanie Chow, Gebhart, Mark E., Gluckman, William A., Goolsby, Craig, Gougelet, Robert M., Granholm, Fredrik, Greenough, P. Gregg, Grimes, Jennifer O., Grosse, Steve, Grossman, Shamai A., Jr, John T. Groves, Guidotti, Tee L., Guo, George, Haessler, Sarah, Hall, Matthew M., Hardin, John W., Harrell, Mason, Hart, MD, Alexander, Harvey, Melissa, Hertelendy, PhD, Attila J., Hiremath, Nishanth S., Hitchens, Jordan, Holstege, Christopher P., Horne, Simon T., Horng, Steven, Hosin, Amer, House, Hans R., Ingrassia, Pier Luigi, Issa, Fadi S., Jacoby, Irving “Jake”, Jaiswal, Rajnish, Jay, Gregory, Jenkins, J. Lee, Joseph, Josh W., Kappler, Shane, Keim, Mark E., Kelman, Julie, Ketterer, Andrew R., Khan, Anas A., Kharel, Ramu, Kharod, Chetan U., Kirsch, Thomas D., Knopov, Anita, Kravitz, Max, Lee, J. Austin, Lemery, Jay, Leventhal, Evan L., Loughlin, Jesse, Ludy, Stephanie, Maguire, Brian J., Mahon, Selwyn E., Maniscalco, Paul M., Manners, Philip, Marcus, Leonard Jay, Margus, Colton, Masri, Taha M., Matthews, Jeff, McKay, Sean D., McKinney, Zeke J., McLellan, Robert K., McNulty, Eric J., Mehkri, Faroukh, Mehta, Mandana, Mendelsohn, Rebecca A., Merin, Ofer, Milsten, Andrew, Molé, Dale M., Molloy, Michael Sean, Morelli, Ilaria, Mothershead, Jerry L., Mulhern, John, Mullendore, Nicole F., Musisca, Nicholas J., Naganathan, Sonya, Nathanson, Larry A., Nelson, Erica L., Nelson, Lewis S., Newbury, Bradford A., Newbury, Kimberly, O’Neill, Ansley, Obernier, Robert, Olagnero, Jacopo M., Oostrom-Shah, Leonie, Ordun, Catherine Y., Parazynski, Scott, Park, Andrew J., Partridge, Robert, S, Jeffrey, Phillips, James P., Pinter, Emily, IV, David P. Polatty, Popieluszko, Patrick, Porcaro, William, Proano, Lawrence, Pruitt, Peter B., Qureshi, Moiz, Ragazzoni, Luca, Rashid, Murtaza, Rega, Paul Patrick, Reilly, Michael J., Restuccia, Marc C., Rifino, James J., Robben, Paul M., Rosenblatt, Joy L., Ryan, Kevin M., Rybasack-Smith, Heather, Salway, Richard James, Samo, Daniel, Sanchez, Leon D., Sanford, Shawn M., Sarin, Ritu R., Sarma, Deesha, Schacht, Jesse, Schwind, Valarie, Shapiro, Geoffrey L., Sheehan, Joshua, Shreve, Brian, Simonyan, Grigor, Smith, Devin M., MD, E. Reed Smith, MA, Jack E. Smith, Smith, Montray, Smulowitz, Peter B., Snyder, Angela M., Solano, Joshua J., Stenson, Bryan A., Stewart, Charles, Stewart, M. Kathleen, Sullivan, Patrick, Supple, Jared S., Tin, Derrick, Valente, Jonathan Harris, Vear, Kathryn M., Vidyalakshmi, P.R., Vilas, Faith, Vilke, Gary M., Villano, Janna H., Voskanyan, Amalia, Watson, C. James, Weber, Nancy, Weiner, Scott G., Weinstein, Brielle, Weinstein, Eric S., Werner, Jordan R., MD, Roy Karl Werner, Whitledge, James D., Wiener, Sage W., Wiesner, Lauren, Williams, Kenneth A., Wing, Robyn, Wolfe, Richard E., Wong, Wendy Hin-Wing, Woolard, Robert, Wuthisuthimethawee, Prasit, and Youssef, Nadine A.

Published
2024
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49. Variations in psychological disorders, suicidality, and help-seeking behaviour among college students from different academic disciplines.

Author

McLafferty, Margaret, Brown, Natasha, Brady, John, McLaughlin, Jonathon, McHugh, Rachel, Ward, Caoimhe, McBride, Louise, Bjourson, Anthony J., O'Neill, Siobhan M., Walsh, Colum P., and Murray, Elaine K.

Subjects
*COLLEGE students, *MENTAL health of college students, *PSYCHOTHERAPY, *HELP-seeking behavior, *SUICIDAL ideation, *SOCIAL anxiety, *LIFE sciences
Abstract

Background: Elevated levels of suicidality, ADHD, mental ill-health and substance disorders are reported among college students globally, yet few receive treatment. Some faculties and courses appear to have more at-risk students than others. The current study aimed to determine if students commencing college in different academic disciplines were at a heightened risk for psychopathology, substance use disorders and suicidal behaviour, and examined variations in help-seeking behaviour. Materials and methods: The study utilised data collected from 1,829 first-year undergraduate students as part of the Student Psychological Intervention Trial (SPIT) which commenced in September 2019 across four Ulster University campuses in Northern Ireland and an Institute of Technology, in the North-West of Ireland. The SPIT study is part of the World Mental Health International College Student Initiative (WMH-ICS) which uses the WMH-CIDI to identify 12-month and lifetime disorders. Results: Students from Life and Health Sciences reported the lowest rates of a range of psychological problems in the year prior to commencing college, while participants studying Arts and Humanities displayed the highest levels (e.g. depression 20.6%; social anxiety 38.8%). However, within faculty variations were found. For example, psychology students reported high rates, while nursing students reported low rates. Variations in help seeking behaviour were also revealed, with male students less likely to seek help. Conclusions: Detecting specific cohorts at risk of psychological disorders and suicidality is challenging. This study revealed that some academic disciplines have more vulnerable students than others, with many reluctant to seek help for their problems. It is important for educators to be aware of such issues and for colleges to provide information and support to students at risk. Tailored interventions and prevention strategies may be beneficial to address the needs of students from different disciplines. [ABSTRACT FROM AUTHOR]

Published
2022
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50. Differences Between Sexual and Nonsexual Homicides of Women in the United States: Findings From the National Violent Death Reporting System.

Author

De Veauuse Brown, Natasha F. and Watson, Ashley E. N.

Subjects
*HOMICIDE, *CONFIDENCE intervals, *MULTIVARIATE analysis, *ATTITUDES toward sex, *WRONGFUL death, *CRIMINOLOGY, *SOCIOECONOMIC factors, *SEX distribution, *SEX crimes, *DESCRIPTIVE statistics, *RESEARCH funding, *ODDS ratio, *VICTIMS, *DATA analysis software, *LOGISTIC regression analysis, *WOMEN'S health
Abstract

Sexual homicide (SH) is the most severe outcome of sexual violence and disproportionately affects women. While SH is rare (<1% in the U.S.) and gravely understudied, it is among the most violent, feared, and well publicized forms of murder. Thus, examining predictors is pertinent to identifying targets for prevention and response efforts. Secondary analysis of 2015–2018 National Violent Death Reporting System data on 6461 female homicide victims age 20–64 was conducted to determine if SH represents a unique killing characterized by specific offender, victim, and incident profiles. Law enforcement and coroner/medical examiner narratives were reviewed to identify cases with sexual elements (N =324). Logistic regression estimated odds ratios with 95% confidence intervals. Findings highlight important differences between SH and non-SH. SH victims were more likely to be single (AOR=1.7, p =.006), have a substance abuse problem (AOR=1.4, p =.04), or engaged in prostitution (AOR=10.4, p <.001). SH suspects were more likely to be male (AOR=2.5, p =.04), use an illicit substance in the preceding hours (AOR=1.6, p =.03), or had recent contact with police (AOR=1.6, p =.01). SH was more likely to occur in a hotel/motel (AOR=3.0, p =.002), by asphyxiation (AOR =13.38, p <.001), be perpetrated against an acquaintance (AOR=1.64, p =.007), or be precipitated by another serious crime (AOR=2.1, p <.001). Findings advance our understanding of SH victim, suspect, and incident profiles, which can help to better inform police/investigative practices and crime prevention strategies/interventions as well as to improve how SH cases are managed in correctional programs for offenders who have the opportunity for release back into society. [ABSTRACT FROM AUTHOR]

Published
2022
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