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Author/Creator Butler, Elizabeth

2. Diagnostic outcomes for genetic testing of 70 genes in 8565 patients with epilepsy and neurodevelopmental disorders. (14th April 2018)

Authors:
Lindy, Amanda S.; Stosser, Mary Beth; Butler, Elizabeth; Downtain‐Pickersgill, Courtney; Shanmugham, Anita; Retterer, Kyle; Brandt, Tracy; Richard, Gabriele; McKnight, Dianalee A.
Journal:
Epilepsia
Issue:
Volume 59:issue 5(2018)
Page Start:
1062
Record Type:
Journal Article
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4. Expanding the phenotypic spectrum of GABRG2 variants: a recurrent GABRG2 missense variant associated with a severe phenotype. (3rd April 2017)

Authors:
Zou, Fanggeng; McWalter, Kirsty; Schmidt, Lindsay; Decker, Amy; Picker, Jonathan D.; Lincoln, Sharyn; Sweetser, David A.; Briere, Lauren C.; Harini, Chellamani; Marsh, Eric; Medne, Livija; Wang, Raymond Y.; Leydiker, Karen; Mower, Andrew; Visser, Gepke; Cuppen, Inge; van Gassen, Koen L.; van der ...
Journal:
Journal of neurogenetics
Issue:
Volume 31:Number 1/2(2017)
Page Start:
30
Record Type:
Journal Article
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5. Genetic counseling in industry settings: Opportunities in the era of precision health. Issue 1 (19th April 2018)

Authors:
McWalter, Kirsty; Cho, Megan T.; Hart, Tara; Nusbaum, Rachel; Sebold, Courtney; Knapke, Sara; Klein, Rachel; Friedman, Bethany; Willaert, Rebecca; Singleton, Amanda; Williams, Leah; Butler, Elizabeth; Juusola, Jane
Other Names:
Dent Karin M. guestEditor.; Magoulas Pilar L. guestEditor.; Bamshad Michael J. guestEditor.
Journal:
American journal of medical genetics
Issue:
Volume 178:Issue 1(2018)
Page Start:
46
Record Type:
Journal Article
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7. The ClinGen Epilepsy Gene Curation Expert Panel—Bridging the divide between clinical domain knowledge and formal gene curation criteria. Issue 11 (11th October 2018)

Authors:
Helbig, Ingo; Riggs, Erin Rooney; Barry, Carrie‐Anne; Klein, Karl Martin; Dyment, David; Thaxton, Courtney; Sadikovic, Bekim; Sands, Tristan T.; Wagnon, Jacy L.; Liaquat, Khalida; Cilio, Maria Roberta; Mirzaa, Ghayda; Park, Kristen; Axeen, Erika; Butler, Elizabeth; Bardakjian, Tanya M.; Striano, ...
Other Names:
Rehm Heidi L. guestEditor.; Berg Jonathan S. guestEditor.; Plon Sharon E. guestEditor.
Journal:
Human mutation
Issue:
Volume 39:Issue 11(2018)
Page Start:
1476
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗