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Author/Creator Erwin, Angelika L.

2. 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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4. Hepatocellular Carcinoma in Acute Hepatic Porphyrias: Results from the Longitudinal Study of the U.S. Porphyrias Consortium. Issue 5 (11th December 2020)

Authors:
Saberi, Behnam; Naik, Hetanshi; Overbey, Jessica R.; Erwin, Angelika L.; Anderson, Karl E.; Bissell, D. Montgomery; Bonkovsky, Herbert L.; Phillips, John D.; Wang, Bruce; K.Singal, Ashwani; M.McGuire, Brendan; Desnick, Robert J.; Balwani, Manisha
Journal:
Hepatology
Issue:
Volume 73:Issue 5(2021)
Page Start:
1736
Record Type:
Journal Article
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5. Identification and characterization of 40 novel hydroxymethylbilane synthase mutations that cause acute intermittent porphyria. Issue 1 (11th February 2019)

Authors:
Chen, Brenden; Solis‐Villa, Constanza; Erwin, Angelika L.; Balwani, Manisha; Nazarenko, Irina; Phillips, John D.; Desnick, Robert J.; Yasuda, Makiko
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 1(2019)
Page Start:
186
Record Type:
Journal Article
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6. S1105 Disease Burden and Healthcare Utilization Among Patients With Acute Intermittent Porphyria Experiencing Chronic Pain: Analyses From a National Healthcare Database. (October 2020)

Authors:
Silver, Samuel; Erwin, Angelika L.; Meninger, Stephen; Tkacz, Joseph; Noxon, Virginia; Ko, John J.
Journal:
American journal of gastroenterology
Issue:
Volume 115:Supplement(2020)ACG Annual Meeting Abstracts 1
Page Start:
S558
Record Type:
Journal Article
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7. TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development. Issue 4 (1st March 2021)

Authors:
van Woerden, Geeske M.; Bos, Melanie; de Konink, Charlotte; Distel, Ben; Avagliano Trezza, Rossella; Shur, Natasha E.; Barañano, Kristin; Mahida, Sonal; Chassevent, Anna; Schreiber, Allison; Erwin, Angelika L.; Gripp, Karen W.; Rehman, Fatima; Brulleman, Saskia; McCormack, Róisín; de Geus, Gwynna...
Journal:
Human mutation
Issue:
Volume 42:Issue 4(2021)
Page Start:
445
Record Type:
Journal Article
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