Monoallelic intragenic POU3F2 variants lead to neurodevelopmental delay and hyperphagic obesity, confirming the gene's candidacy in 6q16.1 deletions

Authors: Schönauer, Ria, Jin, Wenjun, Findeisen, Christin, Valenzuela, Irene, Devlin, Laura Alice, Murrell, Jill, Bedoukian, Emma C., Pöschla, Linda, Hantmann, Elena, Riedhammer, Korbinian M., Hoefele, Julia, Platzer, Konrad, Biemann, Ronald, Campeau, Philipp M., Münch, Johannes, Heyne, Henrike, Hoffmann, Anne, Ghosh, Adhideb, Sun, Wenfei, Dong, Hua, Noé, Falko, Wolfrum, Christian, Woods, Emily, Parker, Michael J., Neatu, Ruxandra, Le Guyader, Gwenael, Bruel, Ange-Line, Perrin, Laurence, Spiewak, Helena, Missotte, Isabelle, Fourgeaud, Melanie, Michaud, Vincent, Lacombe, Didier, Paolucci, Sarah A., Buchan, Jillian G., Glissmeyer, Margaret, Popp, Bernt, Blüher, Matthias, Sayer, John A., Halbritter, Jan

Source: American journal of human genetics. 110(6):998-1007

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100191548862.0x000001&indx=1&recIds=ETOCvdc_100191548862.0x000001

Renal ciliopathies: promising drug targets and prospects for clinical trials

Authors: Devlin, Laura, Dhondurao Sudhindar, Praveen, Sayer, John A.

Source: Expert opinion on therapeutic targets. 27(4-5):325-346

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100185047445.0x000001&indx=1&recIds=ETOCvdc_100185047445.0x000001

Biallelic variants in CEP164 cause a motile ciliopathy‐like syndrome

Authors: Devlin, Laura A., Coles, Janice, Jackson, Claire L., Barroso‐Gil, Miguel, Green, Ben, Walker, Woolf T., Thomas, N. Simon, Thompson, James, Rock, Simon A., Neatu, Ruxandra, Powell, Laura, Molinari, Elisa, Wilson, Ian J., Cordell, Heather J., Olinger, Eric, Miles, Colin G., Sayer, John A., Wheway, Gabrielle, Lucas, Jane S.

Source: Clinical genetics. 103(3):330-334

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100173053871.0x000001&indx=1&recIds=ETOCvdc_100173053871.0x000001

Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome

Authors: Ramsbottom, Simon A., Thelwall, Peter E., Wood, Katrina M., Clowry, Gavin J., Devlin, Laura A., Silbermann, Flora, Spiewak, Helena L., Shril, Shirlee, Molinari, Elisa, Hildebrandt, Friedhelm, Gunay-Aygun, Meral, Saunier, Sophie, Cordell, Heather J., Sayer, John A., Miles, Colin G.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2020 Jan . 117(2), 1113-1118.

Access URL: https://www.jstor.org/stable/26896986

Renal ciliopathies

Authors: Devlin, Laura A, Sayer, John A

Source: In Current Opinion in Genetics & Development June 2019 56:49-60

Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model

Authors: Ramsbottom, Simon A., Molinari, Elisa, Srivastava, Shalabh, Silberman, Flora, Henry, Charline, Alkanderi, Sumaya, Devlin, Laura A., White, Kathryn, Steel, David H., Saunier, Sophie, Miles, Colin G., Sayer, John A.

Source: Proceedings of the National Academy of Sciences of the United States of America, 2018 Dec 01. 115(49), 12489-12494.

Access URL: https://www.jstor.org/stable/26573688

Homeless health.

Authors: Devlin, Laura

Source: Pulse. Dec2023, p42-44. 3p.

Subject Terms: *NURSE prescribing, *WORKING hours, *EXECUTIVES

Targeted exon skipping rescues ciliary protein composition defects in Joubert syndrome patient fibroblasts

Authors: Molinari, Elisa, Ramsbottom, Simon, Srivastava, Shalabh, Booth, Philip, Alkanderi, Sumaya, McLafferty, Seamus, Devlin, Laura, White, Kathryn, Gunay-Aygun, Meral, Miles, Colin, Sayer, John

Source: Scientific reports. 9(1):1-13

Availability: http://explore.bl.uk/primo_library/libweb/action/display.do?tabs=detailsTab&gathStatTab=true&ct=display&fn=search&doc=ETOCvdc_100187144539.0x000001&indx=1&recIds=ETOCvdc_100187144539.0x000001

Survey of UK attitudes to tests and testing 2021 -- Summary findings.

Authors: Evans, Nigel¹ Nigel@nigel-evans.com, Devlin, Laura Laura.Devlin@bps.org.uk

Source: Assessment & Development Matters. Winter2021, Vol. 13 Issue 4, p28-35. 8p. 1 Chart.

Subject Terms: *ATTITUDE testing, *CLINICAL neuropsychology, *COLLEGE curriculum, *WECHSLER Adult Intelligence Scale, *WECHSLER Intelligence Scale for Children, *PSYCHOLOGICAL tests, *PSYCHOLOGISTS

Psychotherapy Section Survey of Members 2023.

Authors: Law, Ho C., Brostoff, Erica, Devlin, Laura, Hills, David

Source: Psychotherapy Section Review; 2024, Issue 69, p10-24, 15p

Subject Terms: PSYCHOTHERAPY, SOCIAL impact, ONBOARDING (Management coaching), SOCIAL media, RESEARCH teams, PSYCHOLOGISTS

Campbell Bean Soup and Literary Art

Authors: Devlin, Laura Kesselman

Source: Journal of Aesthetic Education, 1977 Jan 01. 11(1), 85-90.

Access URL: https://www.jstor.org/stable/3331864

LESSONS LEARNED DURING A MILITARY AEROEMEDICAL EVACUTION OF A REMOTE CIVILIAN HOPSITAL THREATENED BY FOREST FIRES.

Authors: Devlin, Laura, Gear, Melissa, Grainger, Richard

Source: Aerospace Medicine & Human Performance; Aug2024, Vol. 95 Issue 8, p464-464, 1/3p

Subject Terms: CIVILIAN evacuation, TRANSPORTATION of patients, DOMESTIC economic assistance, ARMED forces, AIR forces, FOREST fires, MID-ocean ridges

Company/Entity: CANADA. Royal Canadian Air Force

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Scientific voice cut off in Commons as boffins stand down

Authors: Mark Henderson; Hannah Devlin; Laura Husband

Source: Times, The (United Kingdom). 04/27/2010, p9-9. 1.