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Author/Creator Weber, Astrid

1. Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. Issue 11 (8th September 2018)

Authors:
Hemati, Parisa; Revah‐Politi, Anya; Bassan, Haim; Petrovski, Slavé; Bilancia, Colleen G.; Ramsey, Keri; Griffin, Nicole G.; Bier, Louise; Cho, Megan T.; Rosello, Monica; Lynch, Sally Ann; Colombo, Sophie; Weber, Astrid; Haug, Marte; Heinzen, Erin L.; Sands, Tristan T.; Narayanan, Vinodh; Primiano...
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 11(2018)
Page Start:
2259
Record Type:
Journal Article
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2. Diagnostic value of exome and whole genome sequencing in craniosynostosis. Issue 4 (24th November 2016)

Authors:
Miller, Kerry A; Twigg, Stephen R F; McGowan, Simon J; Phipps, Julie M; Fenwick, Aimée L; Johnson, David; Wall, Steven A; Noons, Peter; Rees, Katie E M; Tidey, Elizabeth A; Craft, Judith; Taylor, John; Taylor, Jenny C; Goos, Jacqueline A C; Swagemakers, Sigrid M A; Mathijssen, Irene M J; van der ...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 4(2017)
Page Start:
260
Record Type:
Journal Article
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3. Neuropsychiatric risk in children with intellectual disability of genetic origin: IMAGINE, a UK national cohort study. (September 2022)

Authors:
Wolstencroft, Jeanne; Wicks, Francesca; Srinivasan, Ramya; Wynn, Sarah; Ford, Tamsin; Baker, Kate; Chawner, Samuel J R A; Hall, Jeremy; van den Bree, Marianne B M; Owen, Michael J; Skuse, David; Raymond, F Lucy; Wolstencroft, Jeanne; Wicks, Francesca; Srinivasan, Ramya; Erwood, Marie; Lafont, Amy...
Journal:
Lancet
Issue:
Volume 9:Number 9(2022)
Page Start:
715
Record Type:
Journal Article
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4. Delineation of dominant and recessive forms of LZTR1‐associated Noonan syndrome. Issue 6 (3rd April 2019)

Authors:
Pagnamenta, Alistair T.; Kaisaki, Pamela J.; Bennett, Fenella; Burkitt‐Wright, Emma; Martin, Hilary C.; Ferla, Matteo P.; Taylor, John M.; Gompertz, Lianne; Lahiri, Nayana; Tatton‐Brown, Katrina; Newbury‐Ecob, Ruth; Henderson, Alex; Joss, Shelagh; Weber, Astrid; Carmichael, Jenny; Turnpenny, Pete...
Journal:
Clinical genetics
Issue:
Volume 95:Issue 6(2019)
Page Start:
693
Record Type:
Journal Article
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6. Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature. Issue 11 (8th September 2018)

Authors:
Hemati, Parisa; Revah‐Politi, Anya; Bassan, Haim; Petrovski, Slavé; Bilancia, Colleen G.; Ramsey, Keri; Griffin, Nicole G.; Bier, Louise; Cho, Megan T.; Rosello, Monica; Lynch, Sally Ann; Colombo, Sophie; Weber, Astrid; Haug, Marte; Heinzen, Erin L.; Sands, Tristan T.; Narayanan, Vinodh; Primiano...
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 11(2018)
Page Start:
2259
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. In-frame seven amino-acid duplication in AIP arose over the last 3000 years, disrupts protein interaction and stability and is associated with gigantism. Issue 3 (September 2017)

Authors:
Salvatori, Roberto; Radian, Serban; Diekmann, Yoan; Iacovazzo, Donato; David, Alessia; Gabrovska, Plamena; Grassi, Giorgia; Bussell, Anna-Marie; Stals, Karen; Weber, Astrid; Quinton, Richard; Crowne, Elizabeth C; Corazzini, Valentina; Metherell, Lou; Kearney, Tara; Du Plessis, Daniel; Sinha, Ajay...
Journal:
European journal of endocrinology
Issue:
Volume 177:Issue 3(2017)
Page Start:
257
Record Type:
Journal Article
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8. Clinical and molecular characterization of the 20q11.2 microdeletion syndrome: Six new patients. (8th January 2015)

Authors:
Jedraszak, Guillaume; Demeer, Bénédicte; Mathieu‐Dramard, Michèle; Andrieux, Joris; Receveur, Aline; Weber, Astrid; Maye, Una; Foulds, Nicola; Temple, IK; Crolla, John; Alex‐Cordier, Marie‐Pierre; Sanlaville, Damien; Ewans, Lisa; Wilson, Meredith; Armstrong, Ruth; Clarkson, Amanda; Copin, Henri; ...
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 3(2015:Mar.)
Page Start:
504
Record Type:
Journal Article
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9. Localized TWIST1 and TWIST2 basic domain substitutions cause four distinct human diseases that can be modeled in Caenorhabditis elegans. (27th March 2017)

Authors:
Kim, Sharon; Twigg, Stephen R.F.; Scanlon, Victoria A.; Chandra, Aditi; Hansen, Tyler J.; Alsubait, Arwa; Fenwick, Aimee L.; McGowan, Simon J.; Lord, Helen; Lester, Tracy; Sweeney, Elizabeth; Weber, Astrid; Cox, Helen; Wilkie, Andrew O.M.; Golden, Andy; Corsi, Ann K.
Journal:
Human molecular genetics
Issue:
Volume 26:Number 11(2017:Jun. 01)
Page Start:
2118
Record Type:
Journal Article
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