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Megan Truitt Cho
Megan Truitt Cho
Johns Hopkins; NIH/NHGRI; Sarah Lawrence College
Verified email at nih.gov
Title
Cited by
Cited by
Year
Clinical application of whole-exome sequencing across clinical indications
K Retterer, J Juusola, MT Cho, P Vitazka, F Millan, F Gibellini, ...
Genetics in Medicine 18 (7), 696-704, 2016
9962016
High rate of recurrent de novo mutations in developmental and epileptic encephalopathies
FF Hamdan, CT Myers, P Cossette, P Lemay, D Spiegelman, AD Laporte, ...
The American Journal of Human Genetics 101 (5), 664-685, 2017
4002017
Mutations in DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling
LS Blok, E Madsen, J Juusola, C Gilissen, D Baralle, MRF Reijnders, ...
The American Journal of Human Genetics 97 (2), 343-352, 2015
2702015
The usefulness of whole-exome sequencing in routine clinical practice
A Iglesias, K Anyane-Yeboa, J Wynn, A Wilson, M Truitt Cho, E Guzman, ...
Genetics in Medicine 16 (12), 922-931, 2014
2512014
Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
DA Braun, J Rao, G Mollet, D Schapiro, MC Daugeron, W Tan, ...
Nature genetics 49 (10), 1529-1538, 2017
1942017
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
V Salpietro, CL Dixon, H Guo, OD Bello, J Vandrovcova, S Efthymiou, ...
Nature communications 10 (1), 3094, 2019
1862019
Mutations in SPATA5 are associated with microcephaly, intellectual disability, seizures, and hearing loss
AJ Tanaka, MT Cho, F Millan, J Juusola, K Retterer, C Joshi, D Niyazov, ...
The American Journal of Human Genetics 97 (3), 457-464, 2015
1732015
Recurrent de novo and biallelic variation of ATAD3A, encoding a mitochondrial membrane protein, results in distinct neurological syndromes
T Harel, WH Yoon, C Garone, S Gu, Z Coban-Akdemir, MK Eldomery, ...
The American Journal of Human Genetics 99 (4), 831-845, 2016
1722016
Functional dysregulation of CDC42 causes diverse developmental phenotypes
S Martinelli, OHF Krumbach, F Pantaleoni, S Coppola, E Amin, ...
The American Journal of Human Genetics 102 (2), 309-320, 2018
1562018
De novo mutations in protein kinase genes CAMK2A and CAMK2B cause intellectual disability
S Küry, GM van Woerden, T Besnard, MP Onori, X Latypova, MC Towne, ...
The American Journal of Human Genetics 101 (5), 768-788, 2017
1452017
A mild PUM1 mutation is associated with adult-onset ataxia, whereas haploinsufficiency causes developmental delay and seizures
VA Gennarino, EE Palmer, LM McDonell, L Wang, CJ Adamski, A Koire, ...
Cell 172 (5), 924-936. e11, 2018
1252018
Mutations disrupting neuritogenesis genes confer risk for cerebral palsy
SC Jin, SA Lewis, S Bakhtiari, X Zeng, MC Sierant, S Shetty, SM Nordlie, ...
Nature genetics 52 (10), 1046-1056, 2020
1232020
The phenotypic spectrum of Schaaf-Yang syndrome: 18 new affected individuals from 14 families
MD Fountain, E Aten, MT Cho, J Juusola, MA Walkiewicz, JW Ray, F Xia, ...
Genetics in Medicine 19 (1), 45-52, 2017
1192017
De novo disruption of the proteasome regulatory subunit PSMD12 causes a syndromic neurodevelopmental disorder
S Küry, T Besnard, F Ebstein, TN Khan, T Gambin, J Douglas, CA Bacino, ...
The American Journal of Human Genetics 100 (2), 352-363, 2017
1152017
The role of hope in adaptation to uncertainty: The experience of caregivers of children with Down syndrome
M Truitt, B Biesecker, G Capone, T Bailey, L Erby
Patient Education and Counseling 82 (2), 233-238, 2012
1152012
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis
P Mohassel, S Donkervoort, MA Lone, M Nalls, K Gable, SD Gupta, ...
Nature medicine 27 (7), 1197-1204, 2021
1032021
De novo mutations in SON disrupt RNA splicing of genes essential for brain development and metabolism, causing an intellectual-disability syndrome
JH Kim, DN Shinde, MRF Reijnders, NS Hauser, RL Belmonte, GR Wilson, ...
The American Journal of Human Genetics 99 (3), 711-719, 2016
1012016
Neuroligin 2 nonsense variant associated with anxiety, autism, intellectual disability, hyperphagia, and obesity
DJ Parente, C Garriga, B Baskin, G Douglas, MT Cho, GC Araujo, ...
American journal of medical genetics Part A 173 (1), 213-216, 2017
932017
De novo mutations of RERE cause a genetic syndrome with features that overlap those associated with proximal 1p36 deletions
B Fregeau, BJ Kim, A Hernández-García, VK Jordan, MT Cho, RE Schnur, ...
The American Journal of Human Genetics 98 (5), 963-970, 2016
912016
Development and validation of the Psychological Adaptation Scale (PAS): Use in six studies of adaptation to a health condition or risk
B Biesecker, L Erby, S Woolford, J Adcock, J Cohen, A Lamb, K Lewis, ...
Patient education and counseling 93, 248-254, 2013
912013
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