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Siskind, Carly
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1

Proposed use of entrustable professional activities (EPAs) ..:

Hanson‐Kahn, Andrea ; Rowe‐Teeter, Courtney ; Siskind, Carly.
Journal of Genetic Counseling.  33 (2024)  1 - p. 164-167 , 2024
Link: https://doi.org/10.1002/..
 
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2

Genotype‐phenotype study and expansion of ARL6IP1‐related c..:

Cao, Ye ; Manning, Melanie ; Pope, Kathleen...
Clinical Genetics.  99 (2020)  3 - p. 477-480 , 2020
Link: https://doi.org/10.1111/..
 
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3

Biallelic mutations in SORD cause a common and potentially ..:

Cortese, Andrea ; Zhu, Yi ; Rebelo, Adriana P....
Nature Genetics.  52 (2020)  5 - p. 473-481 , 2020
Link: https://doi.org/10.1038/..
 
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4

Novel heterozygous truncating titin variants affecting the ..:

Rich, Kelly A. ; Moscarello, Tia ; Siskind, Carly...
Molecular Genetics & Genomic Medicine.  8 (2020)  10 - p. , 2020
Link: https://doi.org/10.1002/..
 
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5

Assessing non-Mendelian inheritance in inherited axonopathi..:

Bis-Brewer, Dana M. ; Gan-Or, Ziv ; Sleiman, Patrick...
Genetics in Medicine.  22 (2020)  12 - p. 2114-2119 , 2020
Link: https://doi.org/10.1038/..
 
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6

Myelin abnormality in Charcot–Marie–Tooth type 4J recapitul..:

Hu, Bo ; McCollum, Megan ; Ravi, Vignesh...
Annals of Neurology.  83 (2018)  4 - p. 756-770 , 2018
Link: https://doi.org/10.1002/..
 
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7

Reduced neurofilament expression in cutaneous nerve fibers ..:

Pisciotta, Chiara ; Bai, Yunhong ; Brennan, Kathryn M....
Neurology.  85 (2015)  3 - p. 228-234 , 2015
Link: https://doi.org/10.1212/..
 
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8

Exome sequencing identifies a DNAJB6 mutation in a family w..:

Couthouis, Julien ; Raphael, Alya R. ; Siskind, Carly...
Neuromuscular Disorders.  24 (2014)  5 - p. 431-435 , 2014
Link: https://doi.org/10.1016/..
 
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9

A Novel Form of Nemaline Myopathy Caused by an In-Frame Del..:

Sakamuri, Sarada ; Siskind, Carly ; Watson, Karolina...
Neurology.  82 (2014)  10_supplement - p. , 2014
Link: https://doi.org/10.1212/..
 
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10

Muscular Dystrophy Association U.S. Neuromuscular Disease R..:

Wolff, Jodi ; Dalton, Joline ; Cwik, Valerie...
Neurology.  82 (2014)  10_supplement - p. , 2014
Link: https://doi.org/10.1212/..
 
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11

Congenital muscular dystrophy and generalized epilepsy caus..:

Raphael, Alya R. ; Couthouis, Julien ; Sakamuri, Sarada...
Brain Research.  1575 (2014)  - p. 66-71 , 2014
Link: https://doi.org/10.1016/..
 
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12

Exome sequencing allows for rapid gene identification in a ..:

Montenegro, Gladys ; Powell, Eric ; Huang, Jia...
Annals of Neurology.  69 (2011)  3 - p. 464-470 , 2011
Link: https://doi.org/10.1002/..
 
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13

Persistent CNS dysfunction in a boy with CMT1X:

Siskind, Carly ; Feely, Shawna M.E. ; Bernes, Saunder..
Journal of the Neurological Sciences.  279 (2009)  1-2 - p. 109-113 , 2009
Link: https://doi.org/10.1016/..
 
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14

Validation of the parent‐proxy pediatric Charcot‐Marie‐Toot..:

Wu, Tong Tong ; Finkel, Richard S. ; Siskind, Carly E....
Journal of the Peripheral Nervous System.  28 (2023)  2 - p. 237-251 , 2023
Link: https://doi.org/10.1111/..
 
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15

Validation of the parent‐proxy version of the pediatric Cha..:

Wu, Tong Tong ; Finkel, Richard S. ; Siskind, Carly E....
Journal of the Peripheral Nervous System.  28 (2023)  3 - p. 382-389 , 2023
Link: https://doi.org/10.1111/..
 
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