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Author/Creator Haven, Jaclyn

1. N‐glycome analysis detects dysglycosylation missed by conventional methods in SLC39A8 deficiency. Issue 6 (14th September 2020)

Authors:
Park, Julien H.; Mealer, Robert G.; Elias, Abdallah F.; Hoffmann, Susanne; Grüneberg, Marianne; Biskup, Saskia; Fobker, Manfred; Haven, Jaclyn; Mangels, Ute; Reunert, Janine; Rust, Stephan; Schoof, Jonathan; Schwanke, Corbin; Smoller, Jordan W.; Cummings, Richard D.; Marquardt, Thorsten
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 6(2020)
Page Start:
1370
Record Type:
Journal Article
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2. Pathogenic variants in SQOR encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease. Issue 5 (15th April 2020)

Authors:
Friederich, Marisa W.; Elias, Abdallah F.; Kuster, Alice; Laugwitz, Lucia; Larson, Austin A.; Landry, Aaron P.; Ellwood‐Digel, Logan; Mirsky, David M.; Dimmock, David; Haven, Jaclyn; Jiang, Hua; MacLean, Kenneth N.; Styren, Katie; Schoof, Jonathan; Goujon, Louise; Lefrancois, Thomas; Friederich, ...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 5(2020)
Page Start:
1024
Record Type:
Journal Article
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3. SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Issue 7 (24th April 2019)

Authors:
Ng, Bobby G.; Sosicka, Paulina; Agadi, Satish; Almannai, Mohammed; Bacino, Carlos A.; Barone, Rita; Botto, Lorenzo D.; Burton, Jennifer E.; Carlston, Colleen; Chung, Brian Hon‐Yin; Cohen, Julie S.; Coman, David; Dipple, Katrina M.; Dorrani, Naghmeh; Dobyns, William B.; Elias, Abdallah F.; Epstein...
Journal:
Human mutation
Issue:
Volume 40:Issue 7(2019)
Page Start:
908
Record Type:
Journal Article
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4. Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms. Issue 1 (December 2016)

Authors:
Stevens, Servi; van Essen, Anthonie; van Ravenswaaij, Conny; Elias, Abdallah; Haven, Jaclyn; Lelieveld, Stefan; Pfundt, Rolph; Nillesen, Willy; Yntema, Helger; van Roozendaal, Kees; Stegmann, Alexander; Gilissen, Christian; Brunner, Han
Journal:
Genome medicine
Issue:
Volume 8:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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