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Author/Creator Powis, Zöe

1. Biallelic disruption of PKDCC is associated with a skeletal disorder characterised by rhizomelic shortening of extremities and dysmorphic features. Issue 12 (26th November 2018)

Authors:
Sajan, Samin A; Ganesh, Jaya; Shinde, Deepali N; Powis, Zöe; Scarano, Maria I; Stone, Jennifer; Winter, Susan; Tang, Sha
Journal:
Journal of medical genetics
Issue:
Volume 56:Issue 12(2019)
Page Start:
850
Record Type:
Journal Article
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2. Classification of Genes: Standardized Clinical Validity Assessment of Gene–Disease Associations Aids Diagnostic Exome Analysis and Reclassifications. Issue 5 (13th February 2017)

Authors:
Smith, Erica D.; Radtke, Kelly; Rossi, Mari; Shinde, Deepali N.; Darabi, Sourat; El‐Khechen, Dima; Powis, Zöe; Helbig, Katherine; Waller, Kendra; Grange, Dorothy K.; Tang, Sha; Farwell Hagman, Kelly D.
Journal:
Human mutation
Issue:
Volume 38:Issue 5(2017)
Page Start:
600
Record Type:
Journal Article
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3. Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions. Issue 2 (30th October 2019)

Authors:
Powis, Zöe; Towne, Meghan C.; Hagman, Kelly D.F.; Blanco, Kirsten; Palmaer, Erika; Castro, Andrew; Sajan, Samin A.; Radtke, Kelly; Feyma, Timothy J.; Juliette, Kali; Tang, Sha; Sidiropoulos, Christos
Journal:
Clinical genetics
Issue:
Volume 97:Issue 2(2020)
Page Start:
305
Record Type:
Journal Article
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4. Clinical spectrum of STX1B-related epileptic disorders. (12th March 2019)

Authors:
Wolking, Stefan; May, Patrick; Mei, Davide; Møller, Rikke S.; Balestrini, Simona; Helbig, Katherine L.; Altuzarra, Cecilia Desmettre; Chatron, Nicolas; Kaiwar, Charu; Stöhr, Katharina; Widdess-Walsh, Peter; Mendelsohn, Bryce A.; Numis, Adam; Cilio, Maria R.; Van Paesschen, Wim; Svendsen, Lene L.;...
Journal:
Neurology
Issue:
Volume 92:Number 11(2019)
Page Start:
Record Type:
Journal Article
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7. Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis. (November 2018)

Authors:
Powis, Zöe; Farwell Hagman, Kelly; Speare, Virginia; Cain, Taylor; Blanco, Kirsten; Mowlavi, Layla; Mayerhofer, Emily; Tilstra, David; Vedder, Timothy; Hunter, Jesse; Tsang, Marilyn; Gonzalez, Lina; Vockley, Gerald; Tang, Sha
Journal:
Genetics in medicine
Issue:
Volume 20:Number 11(2018)
Page Start:
1468
Record Type:
Journal Article
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8. Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies. (3rd August 2015)

Authors:
Alamillo, Christina L.; Powis, Zöe; Farwell, Kelly; Shahmirzadi, Layla; Weltmer, Elaine C.; Turocy, John; Lowe, Thomas; Kobelka, Christine; Chen, Emily; Basel, Donald; Ashkinadze, Elena; D'Augelli, Lisa; Chao, Elizabeth; Tang, Sha
Journal:
Prenatal diagnosis
Issue:
Volume 35:Number 11(2015:Nov.)
Page Start:
1073
Record Type:
Journal Article
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9. Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder. (2nd May 2018)

Authors:
Liu, Ning; Schoch, Kelly; Luo, Xi; Pena, Loren D M; Bhavana, Venkata Hemanjani; Kukolich, Mary K; Stringer, Sarah; Powis, Zöe; Radtke, Kelly; Mroske, Cameron; Deak, Kristen L; McDonald, Marie T; McConkie-Rosell, Allyn; Markert, M Louise; Kranz, Peter G; Stong, Nicholas; Need, Anna C; Bick, David;...
Journal:
Human molecular genetics
Issue:
Volume 27:Number 14(2018:Jul. 15)
Page Start:
2454
Record Type:
Journal Article
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10. Identification of a syndrome comprising microcephaly and intellectual disability but not white matter disease associated with a homozygous c.676C>T p.R226W DEAF1 mutation. Issue 5 (2nd February 2016)

Authors:
Gund, Christian; Powis, Zöe; Alcaraz, Wendy; Desai, Sonal; Baranano, Kristin
Journal:
American journal of medical genetics
Issue:
Volume 170:Issue 5(2016)
Page Start:
1330
Record Type:
Journal Article
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