Pathogenic RHEB Somatic Variant in a Child With Tuberous Sclerosis Complex Without Pathogenic Variants in TSC1 or TSC2

Authors: Lee, Wei Shern, Macdonald-Laurs, Emma, Stephenson, Sarah, D'Arcy, Colleen, Maixner, Wirginia, Harvey, A. Simon, Lockhart, Paul J., Leventer, Richard J.

Source: Neurology. 101(2):78-82

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100191716577.0x000001&indx=1&recIds=ETOCvdc_100191716577.0x000001

Basal ganglia dysplasia and mTORopathy: A potential cause of postoperative seizures in focal cortical dysplasia

Authors: Lee, Wei Shern, Macdonald‐Laurs, Emma, Stephenson, Sarah E M, D'Arcy, Colleen, MacGregor, Duncan, Leventer, Richard J, Maixner, Wirginia, Harvey, A Simon, Lockhart, Paul J

Source: Epilepsia open. 8(1):205-210

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100184935636.0x000001&indx=1&recIds=ETOCvdc_100184935636.0x000001

Multiple-biomarkers show the importance of blue carbon to commercially important fishery species

Authors: Gorman, Daniel ^{a, ⁎}, Beale, David J. ^b, Crosswell, Joey ^b, Stephenson, Sarah A. ^c, Shah, Rohan M. ^b, Hillyer, Katie E. ^b, Steven, Andrew D.L. ^b

Source: In Science of the Total Environment 10 July 2023 881

Towards reproducible metabarcoding data: Lessons from an international cross‐laboratory experiment

Authors: Zaiko, Anastasija, Greenfield, Paul, Abbott, Cathryn, Ammon, Ulla, Bilewitch, Jaret, Bunce, Michael, Cristescu, Melania E., Chariton, Anthony, Dowle, Eddy, Geller, Jonathan, Ardura Gutierrez, Alba, Hajibabaei, Mehrdad, Haggard, Emmet, Inglis, Graeme J., Lavery, Shane D., Samuiloviene, Aurelija, Simpson, Tiffany, Stat, Michael, Stephenson, Sarah, Sutherland, Judy, Thakur, Vibha, Westfall, Kristen, Wood, Susanna A., Wright, Michael, Zhang, Guang, Pochon, Xavier

Source: Molecular ecology resources. 22(2):519-538

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100138598209.0x000001&indx=1&recIds=ETOCvdc_100138598209.0x000001

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome

Authors: Stephenson, Sarah E.M., Costain, Gregory, Blok, Laura E.R., Silk, Michael A., Nguyen, Thanh Binh, Dong, Xiaomin, Alhuzaimi, Dana E., Dowling, James J., Walker, Susan, Amburgey, Kimberly, Hayeems, Robin Z., Rodan, Lance H., Schwartz, Marc A., Picker, Jonathan, Lynch, Sally A., Gupta, Aditi, Rasmussen, Kristen J., Schimmenti, Lisa A., Klee, Eric W., Niu, Zhiyv, Agre, Katherine E., Chilton, Ilana, Chung, Wendy K., Revah-Politi, Anya, Au, P.Y. Billie, Griffith, Christopher, Racobaldo, Melissa, Raas-Rothschild, Annick, Ben Zeev, Bruria, Barel, Ortal, Moutton, Sebastien, Morice-Picard, Fanny, Carmignac, Virginie, Cornaton, Jenny, Marle, Nathalie, Devinsky, Orrin, Stimach, Chandler, Wechsler, Stephanie Burns, Hainline, Bryan E., Sapp, Katie, Willems, Marjolaine, Bruel, Ange-line, Dias, Kerith-Rae, Evans, Carey-Anne, Roscioli, Tony, Sachdev, Rani, Temple, Suzanna E.L., Zhu, Ying, Baker, Joshua J., Scheffer, Ingrid E., Gardiner, Fiona J., Schneider, Amy L., Muir, Alison M., Mefford, Heather C., Crunk, Amy, Heise, Elizabeth M., Millan, Francisca, Monaghan, Kristin G., Person, Richard, Rhodes, Lindsay, Richards, Sarah, Wentzensen, Ingrid M., Cogné, Benjamin, Isidor, Bertrand, Nizon, Mathilde, Vincent, Marie, Besnard, Thomas, Piton, Amelie, Marcelis, Carlo, Kato, Kohji, Koyama, Norihisa, Ogi, Tomoo, Goh, Elaine Suk-Ying, Richmond, Christopher, Amor, David J., Boyce, Jessica O., Morgan, Angela T., Hildebrand, Michael S., Kaspi, Antony, Bahlo, Melanie, Friðriksdóttir, Rún, Katrínardóttir, Hildigunnur, Sulem, Patrick, Stefánsson, Kári, Björnsson, Hans Tómas, Mandelstam, Simone, Morleo, Manuela, Mariani, Milena, Scala, Marcello, Accogli, Andrea, Torella, Annalaura, Capra, Valeria, Wallis, Mathew, Jansen, Sandra, Waisfisz, Quinten, de Haan, Hugoline, Sadedin, Simon, Lim, Sze Chern, White, Susan M., Ascher, David B., Schenck, Annette, Lockhart, Paul J., Christodoulou, John, Tan, Tiong Yang

Source: American journal of human genetics. 109(4):601-617

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100161203049.0x000001&indx=1&recIds=ETOCvdc_100161203049.0x000001

Transcriptomic and Histological Analysis of the Greentail Prawn (Metapenaeus bennettae) Following Light Crude Oil Exposure

Authors: Armstrong, Emily K., Mondon, Julie, Miller, Adam D., Revill, Andrew T., Stephenson, Sarah A., Tan, Mun Hua, Greenfield, Paul, Tromp, Jared J., Corbett, Patricia, Hook, Sharon E.

Source: Environmental toxicology and chemistry. 41(9):2162-2180

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100158976789.0x000001&indx=1&recIds=ETOCvdc_100158976789.0x000001

International Precision Child Health Partnership (IPCHiP): an initiative to accelerate discovery and improve outcomes in rare pediatric disease.

Authors: Howell, Katherine B., White, Susan M., McTague, Amy, D'Gama, Alissa M., Costain, Gregory, Poduri, Annapurna, Scheffer, Ingrid E., Chau, Vann, Smith, Lindsay D., Stephenson, Sarah E. M., Wojcik, Monica, Davidson, Andrew, Sebire, Neil, Sliz, Piotr, Beggs, Alan H., Chitty, Lyn S., Cohn, Ronald D., Marshall, Christian R., Andrews, Nancy C., North, Kathryn N.

Source: NPJ Genomic Medicine; 2/27/2025, Vol. 10 Issue 1, p1-14, 14p

The genetic landscape and classification of infantile epileptic spasms syndrome requiring surgery due to suspected focal brain malformations.

Authors: Coleman, Matthew, Wang, Min, Snell, Penny, Lee, Wei Shern, D'Arcy, Colleen, Mignone, Cristina, Pope, Kate, Gillies, Greta, Maixner, Wirginia, Wray, Alison, Harvey, A Simon, Simons, Cas, Leventer, Richard J, Stephenson, Sarah E M, Lockhart, Paul J, Howell, Katherine B

Source: Brain Communications; 2025, Vol. 7 Issue 1, p1-12, 12p

Omics-based ecosurveillance uncovers the influence of estuarine macrophytes on sediment microbial function and metabolic redundancy in a tropical ecosystem

Authors: Shah, Rohan M., Stephenson, Sarah, Crosswell, Joseph, Gorman, Daniel, Hillyer, Katie E., Palombo, Enzo A., Jones, Oliver A.H., Cook, Stephen, Bodrossy, Levente, van de Kamp, Jodie, Walsh, Thomas K., Bissett, Andrew, Steven, Andrew D.L., Beale, David J.

Source: In Science of the Total Environment 25 February 2022 809

Functional analysis of pristine estuarine marine sediments

Authors: Shah, Rohan M., Hillyer, Katie E., Stephenson, Sarah, Crosswell, Joseph, Karpe, Avinash V., Palombo, Enzo A., Jones, Oliver A.H., Gorman, Daniel, Bodrossy, Levente, van de Kamp, Jodie, Bissett, Andrew, Whiteley, Andrew S., Steven, Andy D.L., Beale, David J.

Source: In Science of the Total Environment 10 August 2021 781

Effects of Temperature Fluctuation on Burbot Embryos: Implications of Hydropower and Climate Change

Authors: Ashton, Neil K., Ross, Tyler J., Hardy, Ryan S., Stephenson, Sarah M., Evans, Valerie, Jensen, Nathan R., Young, Shawn P., Cain, Kenneth D.

Source: Transactions of the American Fisheries Society. 150(5):605-617

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Metabarcoding Reveals Changes in Benthic Eukaryote and Prokaryote Community Composition along a Tropical Marine Sediment Nickel Gradient

Authors: Gillmore, Megan L., Golding, Lisa A., Chariton, Anthony A., Stauber, Jenny L., Stephenson, Sarah, Gissi, Francesca, Greenfield, Paul, Juillot, Farid, Jolley, Dianne F.

Source: Environmental toxicology and chemistry. 40(7):1894-1907

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100122642363.0x000001&indx=1&recIds=ETOCvdc_100122642363.0x000001

Gradient of brain mosaic RHEB variants causes a continuum of cortical dysplasia

Authors: Lee, Wei Shern, Baldassari, Sara, Chipaux, Mathilde, Adle‐Biassette, Homa, Stephenson, Sarah E. M., Maixner, Wirginia, Harvey, A. Simon, Lockhart, Paul J., Baulac, Stéphanie, Leventer, Richard J.

Source: Annals of clinical and translational neurology. 8(2):485-490

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100115842325.0x000001&indx=1&recIds=ETOCvdc_100115842325.0x000001

Using Opportunistic Datasets to Infer Spatial Management Strategies of Local Fisheries in the U.S. Caribbean Region

Authors: Tzadik, Orian E., Arnold, William S., Brooks, Mallory, Cruz-Motta, Juan Jose, Garcia-Moliner, Graciela, Mar Lopez, Maria, Rankin, Tauna L., Sabine, Alexis M., Stephenson, Sarah P.

Source: Fisheries. 46(4):156-169

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100122683420.0x000001&indx=1&recIds=ETOCvdc_100122683420.0x000001

Capture and Protection of Environmental DNA in a Metal‐Organic Framework.

Authors: FitzGerald, Laura I., Hahn, Erin E., Wallace, Mark, Stephenson, Sarah A., Berry, Oliver F., Doherty, Cara M.

Source: Small Science; Dec2024, Vol. 4 Issue 12, p1-12, 12p

Subject Terms: POLYMERASE chain reaction, DETECTION limit, WATER sampling, ENVIRONMENTAL protection, DNA

De Novo assembly and characterisation of the greentail prawn (Metapenaeus bennettae) hepatopancreas transcriptome – identification of stress response and detoxification transcripts

Authors: Armstrong, Emily K., Miller, Adam D., Mondon, Julie A., Greenfield, Paul A., Stephenson, Sarah A., Tan, Mun Hua, Gan, Han Ming, Hook, Sharon E.

Source: In Marine Genomics October 2019 47

The effect of dissolved nickel and copper on the adult coral Acropora muricata and its microbiome

Authors: Gissi, Francesca, Reichelt-Brushett, Amanda J., Chariton, Anthony A., Stauber, Jenny L., Greenfield, Paul, Humphrey, Craig, Salmon, Matt, Stephenson, Sarah A., Cresswell, Tom, Jolley, Dianne F.

Source: In Environmental Pollution July 2019 250:792-806

Callosal agenesis and congenital mirror movements: outcomes associated with DCC mutations

Authors: Spencer‐Smith, Megan, Knight, Jacquelyn L, Lacaze, Emmanuelle, Depienne, Christel, Lockhart, Paul J, Richards, Linda J, Heron, Delphine, Leventer, Richard J, Robinson, Gail A, Ceslis, Amelia, Gibson, Emily, Giraudat, Kim, McIlroy, Alissandra, Paul, Lynn K, Siffredi, Vanessa, Bahlo, Melanie, Barker, Megan, Blondiaux, Eleonore, Edwards, Timothy J, Garel, Catherine, Heide, Solveig, Keren, Boris, Mandelstam, Simone A, Marsh, Ashley PL, McGillivray, George, Mignot, Cyril, Moutard, Marie‐Laure, Nava, Caroline, Pope, Kate, Rastetter, Agnès, Stephenson, Sarah EM, Valence, Stéphanie, de Villemeur, Thierry Billette, Wood, Amanda, Anderson, Vicki, Sherr, Elliott H

Source: Developmental medicine & child neurology. 62(6):758-762

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100115866109.0x000001&indx=1&recIds=ETOCvdc_100115866109.0x000001

Effects of Cardiovascular Health Factors and Personal Listening Behaviors on Hearing Sensitivity in College-Aged students

Authors: Alessio, Helaine, Marron, Kathleen Hutchinson, Cramer, Ian M., Hughes, Michael, Betz, Kendrah, Stephenson, Sarah, Wagner, Sarah, Loughridge, Theresa, Sproat, Brittany, Bunger, Allison L.

Source: Annals of otology, rhinology & laryngology. 129(8):755-766

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCRN624285267&indx=1&recIds=ETOCRN624285267

Identification and treatment of surgically-remediable causes of infantile epileptic spasms syndrome.

Authors: Macdonald-Laurs, Emma, Dzau, Winston, Warren, Aaron E.L., Coleman, Matthew, Mignone, Cristina, Stephenson, Sarah E. M., Howell, Katherine B.

Source: Expert Review of Neurotherapeutics; Jul2024, Vol. 24 Issue 7, p661-680, 20p