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Author/Creator Christodoulou, John

1. A novel cause of DKC1‐related bone marrow failure: Partial deletion of the 3′ untranslated region. Issue 2 (26th January 2021)

Authors:
Arthur, Jonathan W.; Pickett, Hilda A.; Barbaro, Pasquale M.; Kilo, Tatjana; Vasireddy, Raja S.; Beilharz, Traude H.; Powell, David R.; Hackett, Emma L.; Bennetts, Bruce; Curtin, Julie A.; Jones, Kristi; Christodoulou, John; Reddel, Roger R.; Teo, Juliana; Bryan, Tracy M.
Journal:
EJHaem
Issue:
Volume 2:Issue 2(2021)
Page Start:
157
Record Type:
Journal Article
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2. A novel mutation in GMPPA in siblings with apparent intellectual disability, epilepsy, dysmorphism, and autonomic dysfunction. Issue 8 (2nd June 2017)

Authors:
Gold, Wendy A.; Sobreira, Nara; Wiame, Elsa; Marbaix, Alexandre; Van Schaftingen, Emile; Franzka, Patricia; Riley, Lisa G.; Worgan, Lisa; Hübner, Christian A.; Christodoulou, John; Adès, Lesley C.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 8(2017)
Page Start:
2246
Record Type:
Journal Article
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3. A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein‐truncating variant. Issue 7 (13th April 2019)

Authors:
Lake, Nicole J.; Formosa, Luke E.; Stroud, David A.; Ryan, Michael T.; Calvo, Sarah E.; Mootha, Vamsi K.; Morar, Bharti; Procopis, Peter G; Christodoulou, John; Compton, Alison G.; Thorburn, David R.
Journal:
Human mutation
Issue:
Volume 40:Issue 7(2019)
Page Start:
893
Record Type:
Journal Article
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4. A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders. Issue 2 (19th December 2016)

Authors:
Riley, Lisa G.; Cowley, Mark J.; Gayevskiy, Velimir; Roscioli, Tony; Thorburn, David R.; Prelog, Kristina; Bahlo, Melanie; Sue, Carolyn M.; Balasubramaniam, Shanti; Christodoulou, John
Journal:
Journal of inherited metabolic disease
Issue:
Volume 40:Issue 2(2017)
Page Start:
261
Record Type:
Journal Article
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5. Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapy. Issue 7 (5th June 2020)

Authors:
Wenger, Tara L.; Bly, Randall A.; Wu, Natalie; Albert, Catherine M.; Park, Julie; Shieh, Joseph; Chenbhanich, Jirat; Heike, Carrie L.; Adam, Margaret P.; Chang, Irene; Sun, Angela; Miller, Danny E.; Beck, Anita E.; Gupta, Deepti; Boos, Markus D.; Zackai, Elaine H.; Everman, David; Ganapathi, Shir...
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 7(2020)
Page Start:
1576
Record Type:
Journal Article
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7. ALG13 X‐linked intellectual disability: New variants, glycosylation analysis, and expanded phenotypes. Issue 4 (26th March 2021)

Authors:
Alsharhan, Hind; He, Miao; Edmondson, Andrew C.; Daniel, Earnest J. P.; Chen, Jie; Donald, Tyhiesia; Bakhtiari, Somayeh; Amor, David J.; Jones, Elizabeth A.; Vassallo, Grace; Vincent, Marie; Cogné, Benjamin; Deb, Wallid; Werners, Arend H.; Jin, Sheng C.; Bilguvar, Kaya; Christodoulou, John; Webst...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 4(2021)
Page Start:
1001
Record Type:
Journal Article
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8. An integrative approach combining ion mobility mass spectrometry, X‐ray crystallography, and nuclear magnetic resonance spectroscopy to study the conformational dynamics of α1‐antitrypsin upon ligand binding. (14th July 2015)

Authors:
Nyon, Mun Peak; Prentice, Tanya; Day, Jemma; Kirkpatrick, John; Sivalingam, Ganesh N.; Levy, Geraldine; Haq, Imran; Irving, James A.; Lomas, David A.; Christodoulou, John; Gooptu, Bibek; Thalassinos, Konstantinos
Journal:
Protein science
Issue:
Volume 24:Number 8(2015:Aug.)
Page Start:
1301
Record Type:
Journal Article
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10. Application of Lysine-specific Labeling to Detect Transient Interactions Present During Human Lysozyme Amyloid Fibril Formation. Issue 1 (December 2017)

Authors:
Ahn, Minkoo; Waudby, Christopher; Bernardo-Gancedo, Ana; De Genst, Erwin; Dhulesia, Anne; Salvatella, Xavier; Christodoulou, John; Dobson, Christopher; Kumita, Janet
Journal:
Scientific reports
Issue:
Volume 7:Issue 1(2017)
Page Start:
1
Record Type:
Journal Article
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