Search

Author/Creator Craigen, William

1. Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. (October 2018)

Authors:
Johnston, Jennifer; van der Smagt, Jasper; Rosenfeld, Jill; Pagnamenta, Alistair; Alswaid, Abdulrahman; Baker, Eva; Blair, Edward; Borck, Guntram; Brinkmann, Julia; Craigen, William; Dung, Vu Chi; Emrick, Lisa; Everman, David; van Gassen, Koen; Gulsuner, Suleyman; Harr, Margaret; Jain, Mahim; Kue...
Journal:
Genetics in medicine
Issue:
Volume 20:Number 10(2018)
Page Start:
1175
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene‐level specification of the ACMG/AMP guidelines for sequence variant interpretation. Issue 11 (11th October 2018)

Authors:
Rivera‐Muñoz, Edgar A.; Milko, Laura V.; Harrison, Steven M.; Azzariti, Danielle R.; Kurtz, C. Lisa; Lee, Kristy; Mester, Jessica L.; Weaver, Meredith A.; Currey, Erin; Craigen, William; Eng, Charis; Funke, Birgit; Hegde, Madhuri; Hershberger, Ray E.; Mao, Rong; Steiner, Robert D.; Vincent, Lisa ...
Other Names:
Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor.
Journal:
Human mutation
Issue:
Volume 39:Issue 11(2018)
Page Start:
1614
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. Mutations of the histone linker H1–4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4. Issue 9 (12th November 2021)

Authors:
Tremblay, Martine W; Green, Matthew V; Goldstein, Benjamin M; Aldridge, Andrew I; Rosenfeld, Jill A; Streff, Haley; Tan, Wendy D; Craigen, William; Bekheirnia, Nasim; Al Tala, Saeed; West, Anne E; Jiang, Yong-hui
Journal:
Human molecular genetics
Issue:
Volume 31:Issue 9(2022)
Page Start:
1430
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗