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Author/Creator Roeder, Elizabeth

11. LINE‐ and Alu‐containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV. Issue 12 (22nd August 2018)

Authors:
Szafranski, Przemyslaw; Kośmider, Ewelina; Liu, Qian; Karolak, Justyna A.; Currie, Lauren; Parkash, Sandhya; Kahler, Stephen G.; Roeder, Elizabeth; Littlejohn, Rebecca O.; DeNapoli, Thomas S.; Shardonofsky, Felix R.; Henderson, Cody; Powers, George; Poisson, Virginie; Bérubé, Denis; Oligny, Luc; ...
Journal:
Human mutation
Issue:
Volume 39:Issue 12(2018)
Page Start:
1916
Record Type:
Journal Article
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12. Metabolic impact of pathogenic variants in the mitochondrial glutamyl‐tRNA synthetase EARS2. Issue 4 (27th April 2021)

Authors:
Ni, Min; Black, Lauren F.; Pan, Chunxiao; Vu, Hieu; Pei, Jimin; Ko, Bookyung; Cai, Ling; Solmonson, Ashley; Yang, Chendong; Nugent, Kimberly M.; Grishin, Nick V.; Xing, Chao; Roeder, Elizabeth; DeBerardinis, Ralph J.
Journal:
Journal of inherited metabolic disease
Issue:
Volume 44:Issue 4(2021)
Page Start:
949
Record Type:
Journal Article
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13. Mutations in ZIC2 in human holoprosencephaly: description of a Novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. Issue 8 (2nd December 2009)

Authors:
Solomon, Benjamin D; Lacbawan, Felicitas; Mercier, Sandra; Clegg, Nancy J; Delgado, Mauricio R; Rosenbaum, Kenneth; Dubourg, Christèle; David, Veronique; Olney, Ann Haskins; Wehner, Lars-Erik; Hehr, Ute; Bale, Sherri; Paulussen, Aimee; Smeets, Hubert J; Hardisty, Emily; Tylki-Szymanska, Anna; Pro...
Journal:
Journal of medical genetics
Issue:
Volume 47:Issue 8(2010)
Page Start:
513
Record Type:
Journal Article
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14. Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy. Issue 3 (19th December 2019)

Authors:
Assia Batzir, Nurit; Kishor Bhagwat, Pranjali; Larson, Austin; Coban Akdemir, Zeynep; Bagłaj, Maciej; Bofferding, Leon; Bosanko, Katherine B.; Bouassida, Skander; Callewaert, Bert; Cannon, Ashley; Enchautegui Colon, Yazmin; Garnica, Adolfo D.; Harr, Margaret H.; Heck, Sandra; Hurst, Anna C. E.; J...
Journal:
Human mutation
Issue:
Volume 41:Issue 3(2020)
Page Start:
641
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗