Search

Your search keyword '"Palmer, Elizabeth"' showing total 2,184 results
Start Over Author "Palmer, Elizabeth"
2,184 results on '"Palmer, Elizabeth"'

1. Back Cover

Author

Palmer, Elizabeth

Published
2017

12. Preface

Author

Palmer, Elizabeth

Published
2017

14. Contents

Author

Palmer, Elizabeth

Published
2017

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

Author

Chen, Yuyang, Dawes, Ruebena, Kim, Hyung, Ljungdahl, Alicia, Stenton, Sarah, Walker, Susan, Lord, Jenny, Lemire, Gabrielle, Martin-Geary, Alexandra, Ganesh, Vijay, Ma, Jialan, Ellingford, Jamie, Delage, Erwan, DSouza, Elston, Dong, Shan, Adams, David, Allan, Kirsten, Bakshi, Madhura, Baldwin, Erin, Berger, Seth, Bernstein, Jonathan, Bhatnagar, Ishita, Blair, Ed, Brown, Natasha, Burrage, Lindsay, Chapman, Kimberly, Coman, David, Compton, Alison, Cunningham, Chloe, DSouza, Precilla, Danecek, Petr, Délot, Emmanuèle, Dias, Kerith-Rae, Elias, Ellen, Elmslie, Frances, Evans, Care-Anne, Ewans, Lisa, Ezell, Kimberly, Fraser, Jamie, Gallacher, Lyndon, Genetti, Casie, Goriely, Anne, Grant, Christina, Haack, Tobias, Higgs, Jenny, Hinch, Anjali, Hurles, Matthew, Kuechler, Alma, Lachlan, Katherine, Lalani, Seema, Lecoquierre, François, Leitão, Elsa, Fevre, Anna, Leventer, Richard, Liebelt, Jan, Lindsay, Sarah, Lockhart, Paul, Ma, Alan, Macnamara, Ellen, Mansour, Sahar, Maurer, Taylor, Mendez, Hector, Metcalfe, Kay, Montgomery, Stephen, Moosajee, Mariya, Nassogne, Marie-Cécile, Neumann, Serena, ODonoghue, Michael, OLeary, Melanie, Palmer, Elizabeth, Pattani, Nikhil, Phillips, John, Pitsava, Georgia, Pysar, Ryan, Rehm, Heidi, Reuter, Chloe, Revencu, Nicole, Riess, Angelika, Rius, Rocio, Rodan, Lance, Roscioli, Tony, Rosenfeld, Jill, Sachdev, Rani, Shaw-Smith, Charles, Simons, Cas, Sisodiya, Sanjay, Snell, Penny, St Clair, Laura, Stark, Zornitza, Stewart, Helen, Tan, Tiong, Tan, Natalie, Temple, Suzanna, Thorburn, David, Tifft, Cynthia, Uebergang, Eloise, VanNoy, Grace, Vasudevan, Pradeep, Vilain, Eric, and Viskochil, David

Subjects
Humans, RNA, Small Nuclear, Neurodevelopmental Disorders, Female, Male, Brain, Heterozygote, Alleles, Syndrome, Spliceosomes, Animals
Abstract

Around 60% of individuals with neurodevelopmental disorders (NDD) remain undiagnosed after comprehensive genetic testing, primarily of protein-coding genes1. Large genome-sequenced cohorts are improving our ability to discover new diagnoses in the non-coding genome. Here we identify the non-coding RNA RNU4-2 as a syndromic NDD gene. RNU4-2 encodes the U4 small nuclear RNA (snRNA), which is a critical component of the U4/U6.U5 tri-snRNP complex of the major spliceosome2. We identify an 18 base pair region of RNU4-2 mapping to two structural elements in the U4/U6 snRNA duplex (the T-loop and stem III) that is severely depleted of variation in the general population, but in which we identify heterozygous variants in 115 individuals with NDD. Most individuals (77.4%) have the same highly recurrent single base insertion (n.64_65insT). In 54 individuals in whom it could be determined, the de novo variants were all on the maternal allele. We demonstrate that RNU4-2 is highly expressed in the developing human brain, in contrast to RNU4-1 and other U4 homologues. Using RNA sequencing, we show how 5 splice-site use is systematically disrupted in individuals with RNU4-2 variants, consistent with the known role of this region during spliceosome activation. Finally, we estimate that variants in this 18 base pair region explain 0.4% of individuals with NDD. This work underscores the importance of non-coding genes in rare disorders and will provide a diagnosis to thousands of individuals with NDD worldwide.

Published
2024

17. Pushing the boundaries of rare disease diagnostics with the help of the first Undiagnosed Hackathon

Author

Delgado-Vega, Angelica Maria, Cederroth, Helene, Taylan, Fulya, Ekholm, Katja, Ek, Marlene, Thonberg, Håkan, Jemt, Anders, Nilsson, Daniel, Eisfeldt, Jesper, Bilgrav Saether, Kristine, Höijer, Ida, Akgun-Dogan, Ozlem, Asano, Yui, Barakat, Tahsin Stefan, Batkovskyte, Dominyka, Baynam, Gareth, Bodamer, Olaf, Chetruengchai, Wanna, Corcoran, Pádraic, Couse, Madeline, Danis, Daniel, Demidov, German, Dohi, Eisuke, Erhardsson, Mattias, Fernandez-Luna, Luis, Fujiwara, Toyofumi, Garg, Neha, Giugliani, Roberto, Gonzaga-Jauregui, Claudia, Grigelioniene, Giedre, Groza, Tudor, Gunnarsson, Cecilia, Hammarsjö, Anna, Hammond, Charles Kumi, Hatirnaz Ng, Özden, Hesketh, Sirisha, Hettiarachchi, Dineshani, Johansson Soller, Maria, Kirmani, Umn Ahmed, Kjellberg, Martin, Kvarnung, Malin, Kvlividze, Oleg, Lagerstedt-Robinson, Kristina, Lasko, Paul, Lassmann, Timo, Lau, Lynette Y. S., Laurie, Steven, Lim, Weng Khong, Liu, Zhandong, Lysenkova Wiklander, Mariya, Makay, Prince, Maiga, Alassane Baneye, Maya-González, Carolina, Meyn, M. Stephen, Neethiraj, Ramprasad, Nigro, Vincenzo, Nordgren, Felix, Nordlund, Jessica, Orrsjö, Sara, Ottosson, Jesper, Ozbek, Ugur, Özdemir, Özkan, Partin, Clyde, Pearce, David A., Peck, Raquel, Pedersen, Annie, Pettersson, Maria, Pongpanich, Monnat, Posada de la Paz, Manuel, Ramani, Arun, Romero, Juan Andres, Romero, Vanessa I., Rosenquist, Richard, Saw, Aung Min, Spencer, Matthew, Stattin, Eva-Lena, Srichomthong, Chalurmpon, Tapia-Paez, Isabel, Taruscio, Domenica, Taylor, Julie P., Tkemaladze, Tinatin, Tully, Ian, Tümer, Zeynep, van Zelst-Stams, Wendy A. G., Verloes, Alain, Västerviga, Emma, Wang, Sailan, Yang, Rachel, Yamamoto, Shinya, Yépez, Vicente A., Zhang, Qing, Shotelersuk, Vorasuk, Wiafe, Samuel Agyei, Alanay, Yasemin, Botto, Lorenzo D., Kirmani, Salman, Lumaka, Aimé, Palmer, Elizabeth Emma, Puri, Ratna Dua, Wirta, Valtteri, Lindstrand, Anna, Buske, Orion J., Cederroth, Mikk, and Nordgren, Ann

Published
2024
Full Text
View/download PDF

19. Palestinian and Christian in a violent time

Author

Palmer, Elizabeth

Subjects
Israel-Hamas War, 2023-, Israel-Arab conflicts -- Religious aspects, Palestinian Christians -- Social aspects -- Interviews, Philosophy and religion
Abstract

'I have no idea how my friends in Gaza are surviving,' says Bethlehem pastor Munther Isaac. 'What kind of strength do these people have, and where do they get it?' [...]

Published
2024

21. Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition.

Author

Palmer, Elizabeth, Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew, Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan, Chedrawi, Aziza, Hashem, Mais, Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stéphanie, Raynaud, Martine, Motter, Constance, Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias, Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda, Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Bénédicte, Abi Warde, Marie-Thérèse, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer, Sands, Tristan, Wilson, Golder, Silvertooth, Erin, Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein, Ockeloen, Charlotte, Pfundt, Rolph, Kroft, Sanne, Field, Michael, Laranjeira, Francisco, Fortuna, Ana, Soares, Ana, Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David, Bird, Lynne, Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Pölsler, Laura, Campeau, Philippe, Blazo, Maria, Bijlsma, Emilia, Rosenfeld, Jill, Beetz, Christian, Powis, Zöe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikaël, Mohammad, Shekeeb, Armstrong, Ruth, and Kalscheuer, Vera

Subjects
Male, Female, Humans, Neurodevelopmental Disorders, Mutation, Missense, Genes, X-Linked, Phenotype, Chloride Channels
Abstract

Missense and truncating variants in the X-chromosome-linked CLCN4 gene, resulting in reduced or complete loss-of-function (LOF) of the encoded chloride/proton exchanger ClC-4, were recently demonstrated to cause a neurocognitive phenotype in both males and females. Through international clinical matchmaking and interrogation of public variant databases we assembled a database of 90 rare CLCN4 missense variants in 90 families: 41 unique and 18 recurrent variants in 49 families. For 43 families, including 22 males and 33 females, we collated detailed clinical and segregation data. To confirm causality of variants and to obtain insight into disease mechanisms, we investigated the effect on electrophysiological properties of 59 of the variants in Xenopus oocytes using extended voltage and pH ranges. Detailed analyses revealed new pathophysiological mechanisms: 25% (15/59) of variants demonstrated LOF, characterized by a shift of the voltage-dependent activation to more positive voltages, and nine variants resulted in a toxic gain-of-function, associated with a disrupted gate allowing inward transport at negative voltages. Functional results were not always in line with in silico pathogenicity scores, highlighting the complexity of pathogenicity assessment for accurate genetic counselling. The complex neurocognitive and psychiatric manifestations of this condition, and hitherto under-recognized impacts on growth, gastrointestinal function, and motor control are discussed. Including published cases, we summarize features in 122 individuals from 67 families with CLCN4-related neurodevelopmental condition and suggest future research directions with the aim of improving the integrated care for individuals with this diagnosis.

Published
2023

24. 'I Didn't Know This Was Actually Stuff That Could Help Us, with Actually Learning': Student Perceptions of Active Blended Learning

Author

Lomer, Sylvie and Palmer, Elizabeth

Abstract

This paper analyses student perceptions of Active Blended Learning (ABL) during the transition to an institutional pedagogy at the University of Northampton. In focus groups with 227 student participants across all four faculties, we explored factors mediating student engagement with ABL. Students expressed a preference for face to face teaching and perceived an increase in expectations of independent learning. Students challenged the relationship between online components and assessment. Consumerist narratives were a consistent thread, with online learning perceived as offering less value for money. Although the lecturers self-reported as having fully implemented ABL, the students' descriptions suggested that learning was not always active, with blended learning often a bolt-on to traditional classroom practice.

Published
2023
Full Text
View/download PDF

25. PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

Author

Dingemans, Alexander J. M., Hinne, Max, Truijen, Kim M. G., Goltstein, Lia, van Reeuwijk, Jeroen, de Leeuw, Nicole, Schuurs-Hoeijmakers, Janneke, Pfundt, Rolph, Diets, Illja J., den Hoed, Joery, de Boer, Elke, Coenen-van der Spek, Jet, Jansen, Sandra, van Bon, Bregje W., Jonis, Noraly, Ockeloen, Charlotte W., Vulto-van Silfhout, Anneke T., Kleefstra, Tjitske, Koolen, David A., Campeau, Philippe M., Palmer, Elizabeth E., Van Esch, Hilde, Lyon, Gholson J., Alkuraya, Fowzan S., Rauch, Anita, Marom, Ronit, Baralle, Diana, van der Sluijs, Pleuntje J., Santen, Gijs W. E., Kooy, R. Frank, van Gerven, Marcel A. J., Vissers, Lisenka E. L. M., and de Vries, Bert B. A.

Published
2023
Full Text
View/download PDF

27. Grounded Framework for Culturally Relevant and Responsive Music Teaching

Author

Palmer, Elizabeth S., Vodicka, Jason, Huynh, Tina, D'Alexander, Christine, and Crawford, Lisa

Abstract

Building upon the work of Ladson-Billings, Lind and McKoy, and Shaw, our proposed framework takes into consideration the depth and breadth of musical experiences and contexts, musical content, and the diversity of musical cultures. The proposed framework includes four quadrants: (a) teacher competencies, (b) informed choices, (c) authenticity, and (d) holistic and comparative lessons. The framework provides K-16 teachers with tangible, accessible, and actionable methods for implementing a teaching pedagogy that has often been misunderstood or implemented without fidelity, and therefore ineffective. Each quadrant's description and detail provide educators with guidance, supporting their individual musical growth, facilitating authentic relationships with students, authentic performances, and careful idea development for lesson planning that is inclusive of multiple musical perspectives and origins. Muñiz and Richards et al. acknowledged that community support and teacher capacity are essential for culturally relevant pedagogy to be implemented effectively, thus increasing students' academic growth.

Published
2022
Full Text
View/download PDF

33. Books

Author

Palmer, Elizabeth

Published
1995

48. Books

Author

Palmer, Elizabeth

Published
1994

Catalog

Books, media, physical & digital resources
See catalog results