Search

Author/Creator Cho, Megan T

1. De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia. Issue 2 (7th July 2016)

Authors:
Berko, Esther R; Cho, Megan T; Eng, Christine; Shao, Yunru; Sweetser, David A; Waxler, Jessica; Robin, Nathaniel H; Brewer, Fallon; Donkervoort, Sandra; Mohassel, Payam; Bönnemann, Carsten G; Bialer, Martin; Moore, Christine; Wolfe, Lynne A; Tifft, Cynthia J; Shen, Yufeng; Retterer, Kyle; Millan,...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 2(2017)
Page Start:
84
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy. Issue 2 (15th October 2018)

Authors:
Sega, Annalisa G; Mis, Emily K; Lindstrom, Kristin; Mercimek-Andrews, Saadet; Ji, Weizhen; Cho, Megan T; Juusola, Jane; Konstantino, Monica; Jeffries, Lauren; Khokha, Mustafa K; Lakhani, Saquib Ali
Journal:
Journal of medical genetics
Issue:
Volume 56:Issue 2(2019)
Page Start:
113
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

3. De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects. (22nd September 2017)

Authors:
Slavotinek, Anne; Risolino, Maurizio; Losa, Marta; Cho, Megan T; Monaghan, Kristin G; Schneidman-Duhovny, Dina; Parisotto, Sarah; Herkert, Johanna C; Stegmann, Alexander P A; Miller, Kathryn; Shur, Natasha; Chui, Jacqueline; Muller, Eric; DeBrosse, Suzanne; Szot, Justin O; Chapman, Gavin; Pachter...
Journal:
Human molecular genetics
Issue:
Volume 26:Number 24(2017:Dec. 15)
Page Start:
4849
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability. Issue 8 (2nd September 2017)

Authors:
Pilarowski, Genay O; Vernon, Hilary J; Applegate, Carolyn D; Boukas, Leandros; Cho, Megan T; Gurnett, Christina A; Benke, Paul J; Beaver, Erin; Heeley, Jennifer M; Medne, Livija; Krantz, Ian D; Azage, Meron; Niyazov, Dmitriy; Henderson, Lindsay B; Wentzensen, Ingrid M; Baskin, Berivan; Sacoto, Ma...
Journal:
Journal of medical genetics
Issue:
Volume 55:Issue 8(2018)
Page Start:
561
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. Issue 9 (16th July 2015)

Authors:
Chung, Wendy K; Martin, Kimberly; Jalas, Chaim; Braddock, Stephen R; Juusola, Jane; Monaghan, Kristin G; Warner, Barbara; Franks, Samuel; Yudkoff, Marc; Lulis, Lauren; Rhodes, Roy H; Prasad, Vinay; Torti, Erin; Cho, Megan T; Shinawi, Marwan
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 9(2015)
Page Start:
627
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Mutations in SLC1A4, encoding the brain serine transporter, are associated with developmental delay, microcephaly and hypomyelination. Issue 8 (3rd June 2015)

Authors:
Damseh, Nadirah; Simonin, Alexandre; Jalas, Chaim; Picoraro, Joseph A; Shaag, Avraham; Cho, Megan T; Yaacov, Barak; Neidich, Julie; Al-Ashhab, Motee; Juusola, Jane; Bale, Sherri; Telegrafi, Aida; Retterer, Kyle; Pappas, John G; Moran, Ellen; Cappell, Joshua; Anyane Yeboa, Kwame; Abu-Libdeh, Bassa...
Journal:
Journal of medical genetics
Issue:
Volume 52:Issue 8(2015)
Page Start:
541
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

7. STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability. Issue 7 (24th January 2017)

Authors:
Lehalle, Daphné; Mosca-Boidron, Anne-Laure; Begtrup, Amber; Boute-Benejean, Odile; Charles, Perrine; Cho, Megan T; Clarkson, Amanda; Devinsky, Orrin; Duffourd, Yannis; Duplomb-Jego, Laurence; Gérard, Bénédicte; Jacquette, Aurélia; Kuentz, Paul; Masurel-Paulet, Alice; McDougall, Carey; Moutton, Sé...
Journal:
Journal of medical genetics
Issue:
Volume 54:Issue 7(2017)
Page Start:
479
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗