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Author/Creator Karbassi, Izabela

1. A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders. Issue 1 (29th October 2015)

Authors:
Karbassi, Izabela; Maston, Glenn A.; Love, Angela; DiVincenzo, Christina; Braastad, Corey D.; Elzinga, Christopher D.; Bright, Alison R.; Previte, Domenic; Zhang, Ke; Rowland, Charles M.; McCarthy, Michele; Lapierre, Jennifer L.; Dubois, Felicita; Medeiros, Katelyn A.; Batish, Sat Dev; Jones, Jef...
Journal:
Human mutation
Issue:
Volume 37:Issue 1(2016)
Page Start:
127
Record Type:
Journal Article
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2. BRCA Share: A Collection of Clinical BRCA Gene Variants. Issue 12 (28th September 2016)

Authors:
Béroud, Christophe; Letovsky, Stanley I.; Braastad, Corey D.; Caputo, Sandrine M.; Beaudoux, Olivia; Bignon, Yves Jean; Bressac‐De Paillerets, Brigitte; Bronner, Myriam; Buell, Crystal M.; Collod‐Béroud, Gwenaëlle; Coulet, Florence; Derive, Nicolas; Divincenzo, Christina; Elzinga, Christopher D.;...
Journal:
Human mutation
Issue:
Volume 37:Issue 12(2016)
Page Start:
1318
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Recommendations by the ClinGen Rett/Angelman‐like expert panel for gene‐specific variant interpretation methods. Issue 8 (2nd December 2021)

Authors:
McKnight, Dianalee; Bean, Lora; Karbassi, Izabela; Beattie, Katelynn; Bienvenu, Thierry; Bonin, Hope; Fang, Ping; Chrisodoulou, John; Friez, Michael; Helgeson, Maria; Krishnaraj, Rahul; Meng, Linyan; Mighion, Lindsey; Neul, Jeffrey; Percy, Alan; Ramsden, Simon; Zoghbi, Huda; Das, Soma
Other Names:
Laner Andreas guestEditor.; Maver Ales guestEditor.; den Dunnen Johan T. guestEditor.
Journal:
Human mutation
Issue:
Volume 43:Issue 8(2022)
Page Start:
1097
Record Type:
Journal Article
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4. The allelic spectrum of Charcot–Marie–Tooth disease in over 17, 000 individuals with neuropathy. Issue 6 (21st August 2014)

Authors:
DiVincenzo, Christina; Elzinga, Christopher D.; Medeiros, Adam C.; Karbassi, Izabela; Jones, Jeremiah R.; Evans, Matthew C.; Braastad, Corey D.; Bishop, Crystal M.; Jaremko, Malgorzata; Wang, Zhenyuan; Liaquat, Khalida; Hoffman, Carol A.; York, Michelle D.; Batish, Sat D.; Lupski, James R.; Higgi...
Journal:
Molecular genetics & genomic medicine
Issue:
Volume 2:Issue 6(2014:Nov.)
Page Start:
522
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗