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3,824 results on '"White, Susan A."'

1. Enhancing Screen Time Identification in Children with a Multi-View Vision Language Model and Screen Time Tracker

Author

Hou, Xinlong, Shen, Sen, Li, Xueshen, Gao, Xinran, Huang, Ziyi, Holiday, Steven J., Cribbet, Matthew R., White, Susan W., Sazonov, Edward, and Gan, Yu

Subjects
Computer Science - Computer Vision and Pattern Recognition, Computer Science - Artificial Intelligence
Abstract

Being able to accurately monitor the screen exposure of young children is important for research on phenomena linked to screen use such as childhood obesity, physical activity, and social interaction. Most existing studies rely upon self-report or manual measures from bulky wearable sensors, thus lacking efficiency and accuracy in capturing quantitative screen exposure data. In this work, we developed a novel sensor informatics framework that utilizes egocentric images from a wearable sensor, termed the screen time tracker (STT), and a vision language model (VLM). In particular, we devised a multi-view VLM that takes multiple views from egocentric image sequences and interprets screen exposure dynamically. We validated our approach by using a dataset of children's free-living activities, demonstrating significant improvement over existing methods in plain vision language models and object detection models. Results supported the promise of this monitoring approach, which could optimize behavioral research on screen exposure in children's naturalistic settings., Comment: Prepare for submission

Published
2024

2. VR-NRP: A Virtual Reality Simulation for Training in the Neonatal Resuscitation Program

Author

Aydin, Mustafa Yalin, Curran, Vernon, White, Susan, Pena-Castillo, Lourdes, and Meruvia-Pastor, Oscar

Subjects
Computer Science - Human-Computer Interaction, Computer Science - Graphics, I.3.8, I.6.3
Abstract

The use of Virtual Reality (VR) technologies has been extensively researched in surgical and anatomical education. VR provides a lifelike and interactive environment where healthcare providers can practice and refresh their skills in a safe environment. VR has been shown to be as effective as traditional medical education teaching methods, with the potential to provide more cost-effective and convenient means of curriculum delivery, especially in rural and remote areas or in environments with limited access to hands-on training. In this sense, VR offers the potential to be used to support resuscitation training for healthcare providers such as the Neonatal Resuscitation Program (NRP). The NRP program is an evidence-based and standardized approach for training healthcare providers on the resuscitation of the newborn. In this article, we describe a VR simulation environment that was designed and developed to refresh the skills of NRP providers. To validate this platform, we compared the VR-NRP simulation with exposure to 360-degree immersive video. We found that both VR technologies were positively viewed by healthcare professionals and performed very similarly to each other. However, the VR simulation provided a significantly increased feeling of presence. Furthermore, participants found the VR simulation more useful, leading to improved experiential learning outcomes. Also, participants using VR simulation reported higher confidence in certain NRP skills, such as proper mask placement and newborn response evaluation. This research represents a step forward in understanding how VR and related extended reality (XR) technologies can be applied for effective, immersive medical education, with potential benefits for remote and rural healthcare providers.

Published
2024

5. Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease.

Author

Lemire, Gabrielle, Sanchis-Juan, Alba, Russell, Kathryn, Baxter, Samantha, Chao, Katherine, Singer-Berk, Moriel, Groopman, Emily, Wong, Isaac, England, Eleina, Goodrich, Julia, Pais, Lynn, Austin-Tse, Christina, DiTroia, Stephanie, OHeir, Emily, Ganesh, Vijay, Wojcik, Monica, Evangelista, Emily, Snow, Hana, Osei-Owusu, Ikeoluwa, Fu, Jack, Singh, Mugdha, Mostovoy, Yulia, Huang, Steve, Garimella, Kiran, Kirkham, Samantha, Neil, Jennifer, Shao, Diane, Walsh, Christopher, Argilli, Emanuela, Le, Carolyn, Sherr, Elliott, Gleeson, Joseph, Shril, Shirlee, Schneider, Ronen, Hildebrandt, Friedhelm, Sankaran, Vijay, Madden, Jill, Genetti, Casie, Beggs, Alan, Agrawal, Pankaj, Bujakowska, Kinga, Place, Emily, Pierce, Eric, Donkervoort, Sandra, Bönnemann, Carsten, Gallacher, Lyndon, Stark, Zornitza, Tan, Tiong, White, Susan, Töpf, Ana, Straub, Volker, Fleming, Mark, Pollak, Martin, Õunap, Katrin, Pajusalu, Sander, Donald, Kirsten, Bruwer, Zandre, Ravenscroft, Gianina, Laing, Nigel, MacArthur, Daniel, Rehm, Heidi, Talkowski, Michael, Brand, Harrison, and ODonnell-Luria, Anne

Subjects
CNV, GATK-gCNV, copy number variant, diagnostic yield, exome, variant classification, Humans, DNA Copy Number Variations, Rare Diseases, Exome, Male, Female, Exome Sequencing, Cohort Studies, Genetic Testing
Abstract

Copy number variants (CNVs) are significant contributors to the pathogenicity of rare genetic diseases and, with new innovative methods, can now reliably be identified from exome sequencing. Challenges still remain in accurate classification of CNV pathogenicity. CNV calling using GATK-gCNV was performed on exomes from a cohort of 6,633 families (15,759 individuals) with heterogeneous phenotypes and variable prior genetic testing collected at the Broad Institute Center for Mendelian Genomics of the Genomics Research to Elucidate the Genetics of Rare Diseases consortium and analyzed using the seqr platform. The addition of CNV detection to exome analysis identified causal CNVs for 171 families (2.6%). The estimated sizes of CNVs ranged from 293 bp to 80 Mb. The causal CNVs consisted of 140 deletions, 15 duplications, 3 suspected complex structural variants (SVs), 3 insertions, and 10 complex SVs, the latter two groups being identified by orthogonal confirmation methods. To classify CNV variant pathogenicity, we used the 2020 American College of Medical Genetics and Genomics/ClinGen CNV interpretation standards and developed additional criteria to evaluate allelic and functional data as well as variants on the X chromosome to further advance the framework. We interpreted 151 CNVs as likely pathogenic/pathogenic and 20 CNVs as high-interest variants of uncertain significance. Calling CNVs from existing exome data increases the diagnostic yield for individuals undiagnosed after standard testing approaches, providing a higher-resolution alternative to arrays at a fraction of the cost of genome sequencing. Our improvements to the classification approach advances the systematic framework to assess the pathogenicity of CNVs.

Published
2024

7. 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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9. 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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11. The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes

Author

Vos, Niels, Haghshenas, Sadegheh, van der Laan, Liselot, Russel, Perle K. M., Rooney, Kathleen, Levy, Michael A., Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Maas, Saskia M., Vissers, Lisenka E. L. M., de Vries, Bert B. A., Pfundt, Rolph, Elting, Mariet W., van Hagen, Johanna M., Verbeek, Nienke E., Jongmans, Marjolijn C. J., Lakeman, Phillis, Rumping, Lynne, Bosch, Danielle G. M., Vitobello, Antonio, Thauvin-Robinet, Christel, Faivre, Laurence, Nambot, Sophie, Garde, Aurore, Willems, Marjolaine, Genevieve, David, Nicolas, Gaël, Busa, Tiffany, Toutain, Annick, Gérard, Marion, Bizaoui, Varoona, Isidor, Bertrand, Merla, Giuseppe, Accadia, Maria, Schwartz, Charles E., Ounap, Katrin, Hoffer, Mariëtte J. V., Nezarati, Marjan M., van den Boogaard, Marie-José H., Tedder, Matthew L., Rogers, Curtis, Brusco, Alfredo, Ferrero, Giovanni B., Spodenkiewicz, Marta, Sidlow, Richard, Mussa, Alessandro, Trajkova, Slavica, McCann, Emma, Mroczkowski, Henry J., Jansen, Sandra, Donker-Kaat, Laura, Duijkers, Floor A. M., Stuurman, Kyra E., Mannens, Marcel M. A. M., Alders, Mariëlle, Henneman, Peter, White, Susan M., Sadikovic, Bekim, and van Haelst, Mieke M.

Published
2024
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12. Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype-phenotype correlations and common mechanisms.

Author

Kaur, Maninder, Blair, Justin, Devkota, Batsal, Fortunato, Sierra, Clark, Dinah, Lawrence, Audrey, Kim, Jiwoo, Do, Wonwook, Semeo, Benjamin, Katz, Olivia, Mehta, Devanshi, Yamamoto, Nobuko, Schindler, Emma, Al Rawi, Zayd, Wallace, Nina, Wilde, Jonathan, McCallum, Jennifer, Liu, Jinglan, Xu, Dongbin, Jackson, Marie, Rentas, Stefan, Tayoun, Ahmad, Zhe, Zhang, Abdul-Rahman, Omar, Allen, Bill, Angula, Moris, Anyane-Yeboa, Kwame, Argente, Jesús, Arn, Pamela, Armstrong, Linlea, Basel-Salmon, Lina, Baynam, Gareth, Bird, Lynne, Bruegger, Daniel, Chng, Gaik-Siew, Chitayat, David, Clark, Robin, Cox, Gerald, Dave, Usha, DeBaere, Elfrede, Field, Michael, Graham, John, Gripp, Karen, Greenstein, Robert, Gupta, Neerja, Heidenreich, Randy, Hoffman, Jodi, Hopkin, Robert, Jones, Kenneth, Jones, Marilyn, Kariminejad, Ariana, Kogan, Jillene, Lace, Baiba, Leroy, Julian, Lynch, Sally, McDonald, Marie, Meagher, Kirsten, Mendelsohn, Nancy, Micule, Ieva, Moeschler, John, Nampoothiri, Sheela, Ohashi, Kaoru, Powell, Cynthia, Ramanathan, Subhadra, Raskin, Salmo, Roeder, Elizabeth, Rio, Marlene, Rope, Alan, Sangha, Karan, Scheuerle, Angela, Schneider, Adele, Shalev, Stavit, Siu, Victoria, Smith, Rosemarie, Stevens, Cathy, Tkemaladze, Tinatin, Toimie, John, Toriello, Helga, Turner, Anne, Wheeler, Patricia, White, Susan, Young, Terri, Loomes, Kathleen, Pipan, Mary, Harrington, Ann, Zackai, Elaine, Rajagopalan, Ramakrishnan, Conlin, Laura, Deardorff, Matthew, McEldrew, Deborah, Pie, Juan, Ramos, Feliciano, Musio, Antonio, Kline, Antonie, Izumi, Kosuke, Raible, Sarah, and Krantz, Ian

Subjects
CdLS, Cornelia de Lange Syndrome, HDAC8, NIPBL, RAD21, SMC1A, SMC3, cohesin, genome, transcription, Humans, Nuclear Proteins, De Lange Syndrome, Transcription Factors, Cell Cycle Proteins, Phenotype, Mutation, Genomics, Genetic Association Studies, Transcriptional Elongation Factors, Histone Deacetylases, Repressor Proteins
Abstract

Cornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features. Pathogenic variants in genes encoding cohesin complex structural subunits and regulatory proteins (NIPBL, SMC1A, SMC3, HDAC8, and RAD21) are the major pathogenic contributors to CdLS. Heterozygous or hemizygous variants in the genes encoding these five proteins have been found to be contributory to CdLS, with variants in NIPBL accounting for the majority (>60%) of cases, and the only gene identified to date that results in the severe or classic form of CdLS when mutated. Pathogenic variants in cohesin genes other than NIPBL tend to result in a less severe phenotype. Causative variants in additional genes, such as ANKRD11, EP300, AFF4, TAF1, and BRD4, can cause a CdLS-like phenotype. The common role that these genes, and others, play as critical regulators of developmental transcriptional control has led to the conditions they cause being referred to as disorders of transcriptional regulation (or DTRs). Here, we report the results of a comprehensive molecular analysis in a cohort of 716 probands with typical and atypical CdLS in order to delineate the genetic contribution of causative variants in cohesin complex genes as well as novel candidate genes, genotype-phenotype correlations, and the utility of genome sequencing in understanding the mutational landscape in this population.

Published
2023

17. Experiences of Students with Autism in Online Postsecondary Education: A Consensus Building Investigation Using the Nominal Group Technique

Author

Nelson, Cailee M., White, Susan W., Stoppelbein, Laura, Paul, Margaret L., Armstrong, Madelyn L., and Morett, Laura M.

Abstract

Autism spectrum disorder (ASD) is a neurodevelopmental disorder that is often characterized in existing literature by deficits in social skills and communication. Due to COVID-19, a new issue has presented itself for many students--learning effectively in online education. Despite evidence suggesting many college students with autism prefer online courses, research specifically investigating the challenges these students face in emergency remote instruction is limited. Using a virtually adapted nominal group technique (NGT), this project examined the challenges students with and without autism face in emergency remote and hybrid postsecondary education and inquired about resources available to them. Themes such as struggling to form relationships, poor communication, and a need for increased accessibility emerged from the participants with (n = 8) and without (n = 11) autism. Ultimately, these findings highlight challenges that postsecondary students with and without autism are facing in emergency remote instruction and supports that would be helpful in these educational experiences.

Published
2023

19. Heterozygous rare variants in NR2F2 cause a recognizable multiple congenital anomaly syndrome with developmental delays

Author

Ganapathi, Mythily, Matsuoka, Leticia S., March, Michael, Li, Dong, Brokamp, Elly, Benito-Sanz, Sara, White, Susan M., Lachlan, Katherine, Ahimaz, Priyanka, Sewda, Anshuman, Bastarache, Lisa, Thomas-Wilson, Amanda, Stoler, Joan M., Bramswig, Nuria C., Baptista, Julia, Stals, Karen, Demurger, Florence, Cogne, Benjamin, Isidor, Bertrand, Bedeschi, Maria Francesca, Peron, Angela, Amiel, Jeanne, Zackai, Elaine, Schacht, John P., Iglesias, Alejandro D., Morton, Jenny, Schmetz, Ariane, Seidel, Verónica, Lucia, Stephanie, Baskin, Stephanie M., Thiffault, Isabelle, Cogan, Joy D., Gordon, Christopher T., Chung, Wendy K., Bowdin, Sarah, and Bhoj, Elizabeth

Published
2023
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20. Brief Report: Creation of a Transition Readiness Scale for Adolescents with ASD

Author

Elias, Rebecca, Conner, Caitlin M., and White, Susan W.

Abstract

The transition to postsecondary education is characterized by many changes for adolescents with autism spectrum disorder (ASD). A data-based understanding of a student's readiness for postsecondary education could help students, and their parents, better prepare for this life transition. The Transition Readiness Scale (TRS) was created to address this need. The TRS is a self/other-report questionnaire used to assess postsecondary readiness across behavioral, cognitive, and emotional domains among adolescents 15-18 years of age. The present study details measure development and provides preliminary psychometric properties in a sample of transition-aged youth with ASD. Results indicate strong internal consistency, adequate item-level analyses, and discriminant and concurrent validity. Future validation of the TRS in large-scale field testing is merited to inform clinical interpretation.

Published
2023
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22. Christmas Island

Author

White, Susan Q., Webb, John A., LaMoreaux, James W., Series Editor, Webb, John, editor, White, Susan, editor, and Smith, Garry K., editor

Published
2023
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23. Otway Basin

Author

White, Susan Q., LaMoreaux, James W., Series Editor, Webb, John, editor, White, Susan, editor, and Smith, Garry K., editor

Published
2023
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26. Cape Range

Author

White, Susan Q., Brooks, Darren, Webb, John A., LaMoreaux, James W., Series Editor, Webb, John, editor, White, Susan, editor, and Smith, Garry K., editor

Published
2023
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30. Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

Author

Angius, Andrea, Baker, Janice A., Bedoukian, Emma, Bhambhani, Vikas, Bodamer, Olaf, O’Brien, Alan, Clayton-Smith, Jill, Crisponi, Laura, Cueto González, Anna María, the DDD study, Devriendt, Koenraad, Garrido, Elena Dominguez, Ehmke, Nadja, van Eerde, Albertien, van den Elzen, Annette P.M., Faivre, Laurence, Fisher, Laura, Flores-Daboub, Josue A., Foster, Alison, Friedman, Jennifer, Gabau, Elisabeth, Galazzi, Elena, García-Miñaúr, Sixto, Garavelli, Livia, Gardeitchik, Thatjana, Gerkes, Erica H., van Gils, Julien, Giltay, Jacques C., Garcia, Aixa Gonzalez, Heimdal, Ketil Riddervold, Horn, Denise, Houge, Gunnar, Hufnagel, Sophia B., Ilencikova, Denisa, Julia, Sophie, Kant, Sarina G., Kinning, Esther, Klee, Eric W., Kois, Chelsea, Kovačević, Maja, Lachmeijer, A.M.A. (Guus), Lanpher, Brendan, Lebrun, Marine, Leon, Eyby, Lichty, Angie Ward, Lin, Ruth, Llano-Rivas, Isabel, Lynch, Sally Ann, Maas, Saskia M., Maitz, Silvia B., McKee, Shane, Melis, Daniela, Merati, Elisabetta, Merla, Giuseppe, Newbury-Ecob, Ruth, Nizon, Mathilde, Park, Soo-Mi, Patterson, Jennifer, Petit, Florence, Peeters, Hilde, Persani, Luca, Persico, Ivana, Pes, Valentina, Pollazzon, Marzia, Potjer, Thomas, Potocki, Lorraine, Pottinger, Carrie, Prasad, Chitra, Prijoles, Eloise J., Ragge, Nicola K., Rake, Jan Peter, van Ravenswaaij-Arts, Conny M.A., Rea, Gillian, Ruivenkamp, Claudia, Rutz, Audrey, Saitta, Sulagna C., Russo, Rossana Sanchez, Santen, Gijs W.E., Schaefer, Elise, Shashi, Vandana, Schultz-Rogers, Laura, Sluga, Andrea, Sotgiu, Stefano, Steichen-Gersdorf, Elisabeth, Sullivan, Jennifer A., Sun, Yu, Suri, Mohnish, Tartaglia, Marco, Tedder, Matt, Terhal, Paulien, Tully, Ian, Verbeek, Nienke, Wenzel, Maren, White, Susan M., Xiao, Bing, Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Levy, Michael A., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A., Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F., Hurst, Anna C.E., Kaiser, Frank J., Lacombe, Didier, Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Santos-Simarro, Fernando, Simpson, Brittany N., Alders, Mariëlle, Robertson, Stephen P., Sadikovic, Bekim, and Menke, Leonie A.

Published
2024
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37. 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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38. Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt

Author

Shepherdson, James L., Hutchison, Katie, Don, Dilan Wellalage, McGillivray, George, Choi, Tae-Ik, Allan, Carolyn A., Amor, David J., Banka, Siddharth, Basel, Donald G., Buch, Laura D., Carere, Deanna Alexis, Carroll, Renée, Clayton-Smith, Jill, Crawford, Ali, Dunø, Morten, Faivre, Laurence, Gilfillan, Christopher P., Gold, Nina B., Gripp, Karen W., Hobson, Emma, Holtz, Alexander M., Innes, A. Micheil, Isidor, Bertrand, Jackson, Adam, Katsonis, Panagiotis, Amel Riazat Kesh, Leila, Küry, Sébastien, Lecoquierre, François, Lockhart, Paul, Maraval, Julien, Matsumoto, Naomichi, McCarrier, Julie, McCarthy, Josephine, Miyake, Noriko, Moey, Lip Hen, Németh, Andrea H., Østergaard, Elsebet, Patel, Rushina, Pope, Kate, Posey, Jennifer E., Schnur, Rhonda E., Shaw, Marie, Stolerman, Elliot, Taylor, Julie P., Wadman, Erin, Wakeling, Emma, White, Susan M., Wong, Lawrence C., Lupski, James R., Lichtarge, Olivier, Corbett, Mark A., Gecz, Jozef, Nicolet, Charles M., Farnham, Peggy J., Kim, Cheol-Hee, and Shinawi, Marwan

Published
2024
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40. Brief Report: The Influence of Autism Severity and Depression on Self-Determination among Young Adults with Autism Spectrum Disorder

Author

White, Susan W., Smith, Isaac, and Brewe, Alexis M.

Abstract

Self-determination (SD) is linked to autonomy and better adult outcomes. Adults with autism spectrum disorder (ASD) are often less independent than cognitively matched peers. Given the frequency with which depression co-occurs in ASD and the established association between depression and SD, we sought to evaluate the influence of both ASD severity and depression on SD among cognitively able emerging adults with ASD. Emerging adults (n = 59) with ASD completed measures of SD, ASD severity, and depression. Both ASD severity and depression were moderately correlated with SD (r = - 0.473; - 0.423, respectively) and with each other (r = 0.625). After controlling for ASD severity, depression did not significantly predict SD. Strengthening SD should be considered in programming to promote independence.

Published
2022
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41. Decision Literacy, Multimodal Storytelling, and the Digital Storygame Project: A team of educators developed a multimodal learning strategy that focuses on the intersection of digital game design and traditional reading and writing skills

Author

Sell, Mike, Schiera, Rachel, Siddique, Zeeshan, White, Susan, and Babal, Julie

Subjects
Literacy, Education, Literature/writing
Abstract

The ability to make good decisions is a critical component of education. Students make dozens of decisions daily that directly affect their learning: to attend class or skip, raise a [...]

Published
2023

44. Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study

Author

D'Gama, Alissa M, Mulhern, Sarah, Sheidley, Beth R, Boodhoo, Fadil, Buts, Sarah, Chandler, Natalie J, Cobb, Joanna, Curtis, Meredith, Higginbotham, Edward J, Holland, Jonathon, Khan, Tayyaba, Koh, Julia, Liang, Nicole S Y, McRae, Lyndsey, Nesbitt, Sarah E, Oby, Brandon T, Paternoster, Ben, Patton, Alistair, Rose, Graham, Scotchman, Elizabeth, Valentine, Rozalia, Wiltrout, Kimberly N, Hayeems, Robin Z, Jain, Puneet, Lunke, Sebastian, Marshall, Christian R, Rockowitz, Shira, Sebire, Neil J, Stark, Zornitza, White, Susan M, Chitty, Lyn S, Cross, J Helen, Scheffer, Ingrid E, Chau, Vann, Costain, Gregory, Poduri, Annapurna, Howell, Katherine B, and McTague, Amy

Published
2023
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45. DNA Methylation Signature for EZH2 Functionally Classifies Sequence Variants in Three PRC2 Complex Genes

Author

Choufani, Sanaa, Gibson, William T, Turinsky, Andrei L, Chung, Brian HY, Wang, Tianren, Garg, Kopal, Vitriolo, Alessandro, Cohen, Ana SA, Cyrus, Sharri, Goodman, Sarah, Chater-Diehl, Eric, Brzezinski, Jack, Brudno, Michael, Ming, Luk Ho, White, Susan M, Lynch, Sally Ann, Clericuzio, Carol, Temple, I Karen, Flinter, Frances, McConnell, Vivienne, Cushing, Tom, Bird, Lynne M, Splitt, Miranda, Kerr, Bronwyn, Scherer, Stephen W, Machado, Jerry, Imagawa, Eri, Okamoto, Nobuhiko, Matsumoto, Naomichi, Testa, Guiseppe, Iascone, Maria, Tenconi, Romano, Caluseriu, Oana, Mendoza-Londono, Roberto, Chitayat, David, Cytrynbaum, Cheryl, Tatton-Brown, Katrina, and Weksberg, Rosanna

Subjects
Biological Sciences, Bioinformatics and Computational Biology, Genetics, Human Genome, Rare Diseases, Abnormalities, Multiple, Adolescent, Adult, Child, Child, Preschool, Cohort Studies, Congenital Hypothyroidism, Craniofacial Abnormalities, DNA Methylation, Enhancer of Zeste Homolog 2 Protein, Female, Hand Deformities, Congenital, Humans, Infant, Intellectual Disability, Male, Mosaicism, Mutation, Mutation, Missense, Neoplasm Proteins, Polycomb Repressive Complex 2, Reproducibility of Results, Transcription Factors, Young Adult, DNA methylation signature, EED, SUZ12, intellectual disability, overgrowth syndromes, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Weaver syndrome (WS), an overgrowth/intellectual disability syndrome (OGID), is caused by pathogenic variants in the histone methyltransferase EZH2, which encodes a core component of the Polycomb repressive complex-2 (PRC2). Using genome-wide DNA methylation (DNAm) data for 187 individuals with OGID and 969 control subjects, we show that pathogenic variants in EZH2 generate a highly specific and sensitive DNAm signature reflecting the phenotype of WS. This signature can be used to distinguish loss-of-function from gain-of-function missense variants and to detect somatic mosaicism. We also show that the signature can accurately classify sequence variants in EED and SUZ12, which encode two other core components of PRC2, and predict the presence of pathogenic variants in undiagnosed individuals with OGID. The discovery of a functionally relevant signature with utility for diagnostic classification of sequence variants in EZH2, EED, and SUZ12 supports the emerging paradigm shift for implementation of DNAm signatures into diagnostics and translational research.

Published
2020

46. Child Characteristics Associated with Educational Placement of Children on the Autism Spectrum

Author

Christiansen, Jens, White, Susan W., McPartland, James, Volkmar, Fr, Parlar, Sarah, and Pedersen, Lennart

Abstract

The education of children with disabilities in the regular educational environment has long been an expectation of legislation in many countries. Yet some children with autism spectrum disorder (ASD) are educated outside regular classes. Despite the obvious importance that educational placement holds for any child, there is limited research on how a child's characteristics are considered in placement. We focus on intellectual ability, adaptive behavior, and ASD severity because internationally these characteristics are expected to be considered when determining diagnosis and support needed. We sought to determine if these characteristics predict educational placement in samples from diagnostic clinics US [n = 82] and DK [n = 54]. In neither sample did borderline/high-average intellectual ability predict educational placement but in the US sample, several children had superior IQ and were mostly in the regular classroom. Only in DK did ASD severity predict educational placement. In neither sample did adaptive behavior predict educational placement, suggesting it was not considered in educational placement. Failure to do so may have implications for long-term outcome.

Published
2021

47. POLR1A variants underlie phenotypic heterogeneity in craniofacial, neural, and cardiac anomalies

Author

Smallwood, Kelly, Watt, Kristin E.N., Ide, Satoru, Baltrunaite, Kristina, Brunswick, Chad, Inskeep, Katherine, Capannari, Corrine, Adam, Margaret P., Begtrup, Amber, Bertola, Debora R., Demmer, Laurie, Demo, Erin, Devinsky, Orrin, Gallagher, Emily R., Guillen Sacoto, Maria J., Jech, Robert, Keren, Boris, Kussmann, Jennifer, Ladda, Roger, Lansdon, Lisa A., Lunke, Sebastian, Mardy, Anne, McWalters, Kirsty, Person, Richard, Raiti, Laura, Saitoh, Noriko, Saunders, Carol J., Schnur, Rhonda, Skorvanek, Matej, Sell, Susan L., Slavotinek, Anne, Sullivan, Bonnie R., Stark, Zornitza, Symonds, Joseph D., Wenger, Tara, Weber, Sacha, Whalen, Sandra, White, Susan M., Winkelmann, Juliane, Zech, Michael, Zeidler, Shimriet, Maeshima, Kazuhiro, Stottmann, Rolf W., Trainor, Paul A., and Weaver, K. Nicole

Published
2023
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48. List of contributors

Author

Bialocerkowski, Andrea, primary, Booker, Jordan A., additional, Bowman, Chelsey, additional, Charak, Ruby, additional, Cunningham, Phillippe B., additional, Davis, Thompson E., additional, DiBartolo, Patricia M., additional, Donovan, Caroline L., additional, Espada, Jose P., additional, Essau, Cecilia A., additional, Etkin, Rebecca G., additional, Farrell, Lara J., additional, Fitzpatrick, Olivia M., additional, Fleming, Georgette E., additional, Flores, Ayleen, additional, Greene, Ross W., additional, Grills, Amie E., additional, Hawes, David J., additional, Houlihan, Daniel, additional, Ishikawa, Shin-ichi, additional, Jahn Kassim, Puteri Shanaz, additional, Jarrett, Matthew A., additional, Kimonis, Eva R., additional, Lebowitz, Eli R., additional, Loades, Maria E., additional, McKenzie, Matthew L., additional, Miller-Slough, Rachel, additional, Muhammad, Noor Azimah, additional, Muris, Peter, additional, Murrihy, Rachael C., additional, Niec, Larissa N., additional, Orgilés, Mireia, additional, Öst, Lars-Göran, additional, Piasini, Serena, additional, Portell, Ashlae, additional, Racz, Jason I., additional, Reiner, Annie, additional, Sasagawa, Satoko, additional, Seligman, Laura D., additional, Silverman, Wendy K., additional, Simmons, Grace L., additional, Spence, Susan H., additional, Tully, Lucy A., additional, Venturo-Conerly, Katherine E., additional, Weisz, John R., additional, Wergeland, Gro Janne, additional, and White, Susan W., additional

Published
2023
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