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Author/Creator Carmichael, Jason

1. De novo missense variants in MEIS2 recapitulate the microdeletion phenotype of cardiac and palate abnormalities, developmental delay, intellectual disability and dysmorphic features. Issue 9 (28th July 2018)

Authors:
Douglas, Ganka; Cho, Megan T.; Telegrafi, Aida; Winter, Susan; Carmichael, Jason; Zackai, Elaine H.; Deardorff, Matthew A.; Harr, Margaret; Williams, Linford; Psychogios, Apostolos; Erwin, Angelika L.; Grebe, Theresa; Retterer, Kyle; Juusola, Jane
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 9(2018)
Page Start:
1845
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

2. O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum. Issue 7 (28th July 2021)

Authors:
Velmans, Clara; O'Donnell-Luria, Anne H; Argilli, Emanuela; Tran Mau-them, Frederic; Vitobello, Antonio; Chan, Marcus CY; Fung, Jasmine Lee-Fong; Rech, Megan; Abicht, Angela; Aubert Mucca, Marion; Carmichael, Jason; Chassaing, Nicolas; Clark, Robin; Coubes, Christine; Denommé-Pichon, Anne-Sophie;...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 7(2022)
Page Start:
697
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

7. Hemimegalencephaly and intractable seizures associated with the NPRL3 gene variant in a newborn: A case report. Issue 7 (22nd March 2021)

Authors:
Chandrasekar, Indira; Tourney, Anne; Loo, Kamela; Carmichael, Jason; James, Kiely; Ellsworth, Katarzyna A.; Dimmock, David; Joseph, Maries
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 7(2021)
Page Start:
2126
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗