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Author/Creator Halliday, Benjamin J.

1. Biallelic loss‐of‐function variants in TBC1D2B cause a neurodevelopmental disorder with seizures and gingival overgrowth. Issue 9 (15th July 2020)

Authors:
Harms, Frederike L.; Parthasarathy, Padmini; Zorndt, Dennis; Alawi, Malik; Fuchs, Sigrid; Halliday, Benjamin J.; McKeown, Colina; Sampaio, Hugo; Radhakrishnan, Natasha; Radhakrishnan, Suresh K.; Gorce, Magali; Navet, Benjamin; Ziegler, Alban; Sachdev, Rani; Robertson, Stephen P.; Nampoothiri, She...
Journal:
Human mutation
Issue:
Volume 41:Issue 9(2020)
Page Start:
1645
Record Type:
Journal Article
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2. Expanding the molecular and clinical phenotypes of FUT8‐CDG. Issue 4 (23rd February 2020)

Authors:
Ng, Bobby G.; Dastsooz, Hassan; Silawi, Mohammad; Habibzadeh, Parham; Jahan, Shima B.; Fard, Mohammad A. F.; Halliday, Benjamin J.; Raymond, Kimiyo; Ruzhnikov, Maura R. Z.; Tabatabaei, Zahra; Taghipour‐Sheshdeh, Afsaneh; Brimble, Elise; Robertson, Stephen P.; Faghihi, Mohammad A.; Freeze, Hudson H.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 4(2020)
Page Start:
871
Record Type:
Journal Article
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3. Integrated in silico and experimental assessment of disease relevance of PCDH19 missense variants. Issue 8 (15th June 2021)

Authors:
Pham, Duyen H.; Pitman, Melissa R.; Kumar, Raman; Jolly, Lachlan A.; Schulz, Renee; Gardner, Alison E.; de Nys, Rebekah; Heron, Sarah E.; Corbett, Mark A.; Kothur, Kavitha; Gill, Deepak; Rajagopalan, Sulekha; Kolc, Kristy L.; Halliday, Benjamin J.; Robertson, Stephen P.; Regan, Brigid M.; Kirsch,...
Journal:
Human mutation
Issue:
Volume 42:Issue 8(2021)
Page Start:
1030
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗