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Author/Creator Schoch, Kelly

1. A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay. Issue 12 (6th November 2022)

Authors:
Dai, Hongzheng; Zhu, Wenmiao; Yuan, Bo; Walley, Nicole; Schoch, Kelly; Jiang, Yong‐Hui; Phillips, John A.; Jones, Melissa S.; Liu, Pengfei; Murdock, David R.; Burrage, Lindsay C.; Lee, Brendan; Rosenfeld, Jill A.; Xiao, Rui
Journal:
Human mutation
Issue:
Volume 43:Issue 12(2022)
Page Start:
1816
Record Type:
Journal Article
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3. 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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4. Cases from the Undiagnosed Diseases Network: The continued value of counseling skills in a new genomic era. Issue 2 (24th January 2019)

Authors:
Macnamara, Ellen F.; Schoch, Kelly; Kelley, Emily G.; Fieg, Elizabeth; Brokamp, Elly; Signer, Rebecca; LeBlanc, Kimberly; McConkie‐Rosell, Allyn; Palmer, Christina G.S.
Journal:
Journal of genetic counseling
Issue:
Volume 28:Issue 2(2019)
Page Start:
194
Record Type:
Journal Article
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5. Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples. Issue 1 (11th June 2021)

Authors:
McConkie‐Rosell, Allyn; Schoch, Kelly; Sullivan, Jennifer; Spillmann, Rebecca C.; Cope, Heidi; Tan, Queenie K.‐G.; Palmer, Christina G. S.; Hooper, Stephen R.; Shashi, Vandana
Other Names:
Acosta Maria T. investigator.; Adam Margaret investigator.; Adams David R. investigator.; Agrawal Pankaj B. investigator.; Alejandro Mercedes E. investigator.; Alvey Justin investigator.; Amendola Laura investigator.; Andrews Ashley investigator.; Ashley Euan A. investigator.; Azamian Mahshid S. ...
Journal:
Journal of genetic counseling
Issue:
Volume 31:Issue 1(2022)
Page Start:
59
Record Type:
Journal Article
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8. Epilepsy in KCNH1‐related syndromes. Issue 2 (June 2016)

Authors:
Mastrangelo, Mario; Scheffer, Ingrid E.; Bramswig, Nuria C.; Nair, Lal. D.V.; Myers, Candace T.; Dentici, Maria Lisa; Korenke, Georg C.; Schoch, Kelly; Campeau, Philippe M.; White, Susan M.; Shashi, Vandana; Kansagra, Sujay; Van Essen, Anthonie J.; Leuzzi, Vincenzo
Journal:
Epileptic disorders
Issue:
Volume 18:Issue 2(2016:Jun.)
Page Start:
123
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. 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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