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Author/Creator Stong, Nicholas

2. Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma. (August 2018)

Authors:
Machol, Keren; Jankovic, Joseph; Vijayakumar, Dhanya; Burrage, Lindsay C.; Jain, Mahim; Lewis, Richard A.; Fuller, Gregory N.; Xu, Mingchu; Penas-Prado, Marta; Gule-Monroe, Maria K.; Rosenfeld, Jill A.; Chen, Rui; Eng, Christine M.; Yang, Yaping; Lee, Brendan H.; Moretti, Paolo M.; Dhar, Shweta U...
Journal:
Neurology
Issue:
Volume 4:Number 4(2018)
Page Start:
Record Type:
Journal Article
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3. Autism and developmental disability caused by KCNQ3 gain‐of‐function variants. Issue 2 (26th June 2019)

Authors:
Sands, Tristan T.; Miceli, Francesco; Lesca, Gaetan; Beck, Anita E.; Sadleir, Lynette G.; Arrington, Daniel K.; Schönewolf‐Greulich, Bitten; Moutton, Sébastien; Lauritano, Anna; Nappi, Piera; Soldovieri, Maria Virginia; Scheffer, Ingrid E.; Mefford, Heather C.; Stong, Nicholas; Heinzen, Erin L.; ...
Journal:
Annals of neurology
Issue:
Volume 86:Issue 2(2019)
Page Start:
181
Record Type:
Journal Article
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4. CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity. (26th May 2021)

Authors:
Ernst, Michelle E.; Baugh, Evan H.; Thomas, Amanda; Bier, Louise; Lippa, Natalie; Stong, Nicholas; Mulhern, Maureen S.; Kushary, Sulagna; Akman, Cigdem I.; Heinzen, Erin L.; Yeh, Raymond; Bi, Weimin; Hanchard, Neil A.; Burrage, Lindsay C.; Leduc, Magalie S.; Chong, Josephine S. C.; Bend, Renee; L...
Journal:
Epilepsia
Issue:
Volume 62:issue 7(2021)
Page Start:
e103
Record Type:
Journal Article
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5. De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder. Issue 8 (18th May 2021)

Authors:
Dias, Caroline; Pfundt, Rolph; Kleefstra, Tjitske; Shuurs‐Hoeijmakers, Janneke; Boon, Elles M. J.; van Hagen, Johanna M.; Zwijnenburg, Petra; Weiss, Marjan M.; Keren, Boris; Mignot, Cyril; Isapof, Arnaud; Weiss, Karin; Hershkovitz, Tova; Iascone, Maria; Maitz, Silvia; Feichtinger, René G.; Kotzot...
Journal:
American journal of medical genetics
Issue:
Volume 185:Issue 8(2021)
Page Start:
2384
Record Type:
Journal Article
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6. Epileptic encephalopathy with features of rapid‐onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation. Issue 1 (13th March 2020)

Authors:
Tran, Linh; Richards, Jason; McDonald, Marie; McConkie‐Rosell, Allyn; Stong, Nicholas; Jasien, Joan; Shashi, Vandana; Mikati, Mohamad A.
Journal:
Epileptic disorders
Issue:
Volume 22:Issue 1(2020)
Page Start:
103
Record Type:
Journal Article
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7. 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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8. Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis. Issue 8 (5th May 2019)

Authors:
Shashi, Vandana; Geist, Janelle; Lee, Youngha; Yoo, Yongjin; Shin, Unbeom; Schoch, Kelly; Sullivan, Jennifer; Stong, Nicholas; Smith, Edward; Jasien, Joan; Kranz, Peter; Lee, Yoonsung; Shin, Yong Beom; Wright, Nathan T.; Choi, Murim; Kontrogianni‐Konstantopoulos, Aikaterini
Other Names:
Acosta Maria T. investigator.; Adams David R. investigator.; Aday Aaron investigator.; Alejandro Mercedes E. investigator.; Allard Patrick investigator.; Ashley Euan A. investigator.; Azamian Mahshid S. investigator.; Bacino Carlos A. investigator.; Bademci Guney investigator.; Baker Eva investig...
Journal:
Human mutation
Issue:
Volume 40:Issue 8(2019)
Page Start:
1115
Record Type:
Journal Article
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9. Loss of tubulin deglutamylase CCP1 causes infantile‐onset neurodegeneration. (12th November 2018)

Authors:
Shashi, Vandana; Magiera, Maria M; Klein, Dennis; Zaki, Maha; Schoch, Kelly; Rudnik‐Schöneborn, Sabine; Norman, Andrew; Lopes Abath Neto, Osorio; Dusl, Marina; Yuan, Xidi; Bartesaghi, Luca; De Marco, Patrizia; Alfares, Ahmed A; Marom, Ronit; Arold, Stefan T; Guzmán‐Vega, Francisco J; Pena, Loren ...
Journal:
EMBO journal
Issue:
Volume 37:Number 23(2018)
Page Start:
n/a
Record Type:
Journal Article
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10. Mapping H4K20me3 onto the chromatin landscape of senescent cells indicates a function in control of cell senescence and tumor suppression through preservation of genetic and epigenetic stability. Issue 1 (December 2016)

Authors:
Nelson, David; Jaber-Hijazi, Farah; Cole, John; Robertson, Neil; Pawlikowski, Jeffrey; Norris, Kevin; Criscione, Steven; Pchelintsev, Nikolay; Piscitello, Desiree; Stong, Nicholas; Rai, Taranjit; McBryan, Tony; Otte, Gabriel; Nixon, Colin; Clark, William; Riethman, Harold; Wu, Hong; Schotta, Gunn...
Journal:
Genome biology
Issue:
Volume 17:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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