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Author/Creator Pizzino, Amy

1. Absence of Axoglial Paranodal Junctions in a Child With CNTNAP1 Mutations, Hypomyelination, and Arthrogryposis. (September 2018)

Authors:
Conant, Alexander; Curiel, Julian; Pizzino, Amy; Sabetrasekh, Parisa; Murphy, Jennifer; Bloom, Miriam; Evans, Sarah H.; Helman, Guy; Taft, Ryan J.; Simons, Cas; Whitehead, Matthew T.; Moore, Steven A.; Vanderver, Adeline
Journal:
Journal of child neurology
Issue:
Volume 33:Number 10(2018:Oct.)
Page Start:
642
Record Type:
Journal Article
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2. ACBD5 deficiency causes a defect in peroxisomal very long-chain fatty acid metabolism. Issue 5 (31st October 2016)

Authors:
Ferdinandusse, Sacha; Falkenberg, Kim D; Koster, Janet; Mooyer, Petra A; Jones, Richard; van Roermund, Carlo W T; Pizzino, Amy; Schrader, Michael; Wanders, Ronald J A; Vanderver, Adeline; Waterham, Hans R
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 5(2017)
Page Start:
330
Record Type:
Journal Article
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3. Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1. (16th January 2015)

Authors:
Crow, Yanick J.; Chase, Diana S.; Lowenstein Schmidt, Johanna; Szynkiewicz, Marcin; Forte, Gabriella M.A.; Gornall, Hannah L.; Oojageer, Anthony; Anderson, Beverley; Pizzino, Amy; Helman, Guy; Abdel‐Hamid, Mohamed S.; Abdel‐Salam, Ghada M.; Ackroyd, Sam; Aeby, Alec; Agosta, Guillermo; Albin, Cath...
Journal:
American journal of medical genetics
Issue:
Volume 167:Number 2(2015:Feb.)
Page Start:
296
Record Type:
Journal Article
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4. 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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5. Genome sequencing in persistently unsolved white matter disorders. Issue 1 (7th January 2020)

Authors:
Helman, Guy; Lajoie, Bryan R.; Crawford, Joanna; Takanohashi, Asako; Walkiewicz, Marzena; Dolzhenko, Egor; Gross, Andrew M.; Gainullin, Vladimir G.; Bent, Stephen J.; Jenkinson, Emma M.; Ferdinandusse, Sacha; Waterham, Hans R.; Dorboz, Imen; Bertini, Enrico; Miyake, Noriko; Wolf, Nicole I.; Abbin...
Journal:
Annals of clinical and translational neurology
Issue:
Volume 7:Issue 1(2020)
Page Start:
144
Record Type:
Journal Article
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7. Mutations in SZT2 result in early‐onset epileptic encephalopathy and leukoencephalopathy. Issue 6 (25th April 2018)

Authors:
Pizzino, Amy; Whitehead, Matthew; Sabet Rasekh, Parisa; Murphy, Jennifer; Helman, Guy; Bloom, Miriam; Evans, Sarah H.; Murnick, John G.; Conry, Joan; Taft, Ryan J.; Simons, Cas; Vanderver, Adeline; Adang, Laura A.
Journal:
American journal of medical genetics
Issue:
Volume 176:Issue 6(2018)
Page Start:
1443
Record Type:
Journal Article
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8. Randomized Clinical Trial of First‐Line Genome Sequencing in Pediatric White Matter Disorders. Issue 2 (9th June 2020)

Authors:
Vanderver, Adeline; Bernard, Geneviève; Helman, Guy; Sherbini, Omar; Boeck, Ryan; Cohn, Jeffrey; Collins, Abigail; Demarest, Scott; Dobbins, Katherine; Emrick, Lisa; Fraser, Jamie L.; Masser‐Frye, Diane; Hayward, Jean; Karmarkar, Swati; Keller, Stephanie; Mirrop, Samuel; Mitchell, Wendy; Pathak, ...
Journal:
Annals of neurology
Issue:
Volume 88:Issue 2(2020)
Page Start:
264
Record Type:
Journal Article
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9. Whole exome sequencing in patients with white matter abnormalities. Issue 6 (9th May 2016)

Authors:
Vanderver, Adeline; Simons, Cas; Helman, Guy; Crawford, Joanna; Wolf, Nicole I.; Bernard, Geneviève; Pizzino, Amy; Schmidt, Johanna L.; Takanohashi, Asako; Miller, David; Khouzam, Amirah; Rajan, Vani; Ramos, Erica; Chowdhury, Shimul; Hambuch, Tina; Ru, Kelin; Baillie, Gregory J.; Grimmond, Sean M...
Journal:
Annals of neurology
Issue:
Volume 79:Issue 6(2016:Jun.)
Page Start:
1031
Record Type:
Journal Article
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10. Whole exome sequencing in patients with white matter abnormalities. Issue 6 (9th May 2016)

Authors:
Vanderver, Adeline; Simons, Cas; Helman, Guy; Crawford, Joanna; Wolf, Nicole I.; Bernard, Geneviève; Pizzino, Amy; Schmidt, Johanna L.; Takanohashi, Asako; Miller, David; Khouzam, Amirah; Rajan, Vani; Ramos, Erica; Chowdhury, Shimul; Hambuch, Tina; Ru, Kelin; Baillie, Gregory J.; Grimmond, Sean M...
Other Names:
Gropman Andrea L. investigator.; Rosser Tena investigator.; Pearl Phillip L. investigator.; Fung Eva investigator.; Parikh Sumit investigator.; Cohen Bruce H. investigator.; Reggin James D. investigator.; Yalcinkaya Cengiz investigator.; Shafrir Yuval investigator.; MarcDiFazio investigator.; Fre...
Journal:
Annals of neurology
Issue:
Volume 79:Issue 6(2016:Jun.)
Page Start:
1031
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗