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Author/Creator Powis, Zoe

1. Biallelic mutations in the ferredoxin reductase gene cause novel mitochondriopathy with optic atrophy. (5th October 2017)

Authors:
Peng, Yanyan; Shinde, Deepali N; Valencia, C Alexander; Mo, Jun-Song; Rosenfeld, Jill; Truitt Cho, Megan; Chamberlin, Adam; Li, Zhuo; Liu, Jie; Gui, Baoheng; Brockhage, Rachel; Basinger, Alice; Alvarez-Leon, Brenda; Heydemann, Peter; Magoulas, Pilar L; Lewis, Andrea M; Scaglia, Fernando; Gril, So...
Journal:
Human molecular genetics
Issue:
Volume 26:Number 24(2017:Dec. 15)
Page Start:
4937
Record Type:
Journal Article
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2. De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability. Issue 10 (15th December 2021)

Authors:
Schalk, Audrey; Cousin, Margot A; Dsouza, Nikita R; Challman, Thomas D; Wain, Karen E; Powis, Zoe; Minks, Kelly; Trimouille, Aurélien; Lasseaux, Eulalie; Lacombe, Didier; Angelini, Chloé; Michaud, Vincent; Van-Gils, Julien; Spataro, Nino; Ruiz, Anna; Gabau, Elizabeth; Stolerman, Elliot; Washingto...
Journal:
Journal of medical genetics
Issue:
Volume 59:Issue 10(2022)
Page Start:
965
Record Type:
Journal Article
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3. Estimating the relative frequency of leukodystrophies and recommendations for carrier screening in the era of next‐generation sequencing. Issue 8 (23rd June 2020)

Authors:
Schmidt, Johanna L.; Pizzino, Amy; Nicholl, Jessica; Foley, Allison; Wang, Yue; Rosenfeld, Jill A.; Mighion, Lindsey; Bean, Lora; da Silva, Cristina; Cho, Megan T.; Truty, Rebecca; Garcia, John; Speare, Virginia; Blanco, Kirsten; Powis, Zoe; Hobson, Grace M.; Kirwin, Susan; Krock, Bryan; Lee, Han...
Journal:
American journal of medical genetics
Issue:
Volume 182:Issue 8(2020)
Page Start:
1906
Record Type:
Journal Article
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4. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome. Issue 6 (30th March 2021)

Authors:
Sheppard, Sarah E.; Campbell, Ian M.; Harr, Margaret H.; Gold, Nina; Li, Dong; Bjornsson, Hans T.; Cohen, Julie S.; Fahrner, Jill A.; Fatemi, Ali; Harris, Jacqueline R.; Nowak, Catherine; Stevens, Cathy A.; Grand, Katheryn; Au, Margaret; Graham, John M.; Sanchez‐Lara, Pedro A.; Campo, Miguel Del;...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 6(2021)
Page Start:
1649
Record Type:
Journal Article
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5. Germline activating MTOR mutation arising through gonadal mosaicism in two brothers with megalencephaly and neurodevelopmental abnormalities. Issue 1 (December 2015)

Authors:
Mroske, Cameron; Rasmussen, Kristen; Shinde, Deepali; Huether, Robert; Powis, Zoe; Lu, Hsiao-Mei; Baxter, Ruth; McPherson, Elizabeth; Tang, Sha
Journal:
BMC medical genetics
Issue:
Volume 16:Issue 1(2015)
Page Start:
1
Record Type:
Journal Article
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6. MAGEL2‐related disorders: A study and case series. Issue 6 (22nd August 2019)

Authors:
Patak, Jameson; Gilfert, James; Byler, Melissa; Neerukonda, Vamsee; Thiffault, Isabelle; Cross, Laura; Amudhavalli, Shivarajan; Pacio‐Miguez, Marta; Palomares‐Bralo, Maria; Garcia‐Minaur, Sixto; Santos‐Simarro, Fernando; Powis, Zoe; Alcaraz, Wendy; Tang, Sha; Jurgens, Julie; Barry, Brenda; Englan...
Journal:
Clinical genetics
Issue:
Volume 96:Issue 6(2019)
Page Start:
493
Record Type:
Journal Article
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7. Sibling concordance for clinical features of Duchenne and Becker muscular dystrophies. Issue 6 (June 2014)

Authors:
Pettygrove, Sydney; Lu, Zhenqiang; Andrews, Jennifer G.; Meaney, F. John; Sheehan, Daniel W.; Price, Elinora T.; Fox, Deborah J.; Pandya, Shree; Ouyang, Lijing; Apkon, Susan D.; Powis, Zoe; Cunniff, Christopher
Journal:
Muscle & nerve
Issue:
Volume 49:Issue 6(2014:Jun.)
Page Start:
814
Record Type:
Journal Article
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8. The role of IQSEC2 in syndromic intellectual disability: Narrowing the diagnostic odyssey. Issue 10 (17th August 2017)

Authors:
Helm, Benjamin M.; Powis, Zoe; Prada, Carlos E.; Casasbuenas‐Alarcon, Olga L.; Balmakund, Tonya; Schaefer, G. B.; Kahler, Stephen G.; Kaylor, Julie; Winter, Susan; Zarate, Yuri A.; Schrier Vergano, Samantha A.
Journal:
American journal of medical genetics
Issue:
Volume 173:Issue 10(2017)
Page Start:
2814
Record Type:
Journal Article
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