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Author/Creator Cho, M.T.

1. Additional de novo missense genetic variants in NALCN associated with CLIFAHDD syndrome. Issue 6 (30th January 2017)

Authors:
Vivero, M.; Cho, M.T.; Begtrup, A.; Wentzensen, I.M.; Walsh, L.; Payne, K.; Zarate, Y.A.; Bosanko, K.; Schaefer, G.B.; DeBrosse, S.; Pollack, L.; Mason, K.; Retterer, K.; DeWard, S.; Juusola, J.; Chung, W.K.
Journal:
Clinical genetics
Issue:
Volume 91:Issue 6(2017)
Page Start:
929
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

2. Association of the missense variant p.Arg203Trp in PACS1 as a cause of intellectual disability and seizures. Issue 2 (23rd January 2017)

Authors:
Stern, D.; Cho, M.T.; Chikarmane, R.; Willaert, R.; Retterer, K.; Kendall, F.; Deardorff, M.; Hopkins, S.; Bedoukian, E.; Slavotinek, A.; Schrier Vergano, S.; Spangler, B.; McDonald, M.; McConkie‐Rosell, A.; Burton, B.K.; Kim, K.H.; Oundjian, N.; Kronn, D.; Chandy, N.; Baskin, B.
Journal:
Clinical genetics
Issue:
Volume 92:Issue 2(2017)
Page Start:
221
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. De novo loss of function mutations in KIAA2022 are associated with epilepsy and neurodevelopmental delay in females. Issue 5 (29th September 2016)

Authors:
Webster, R.; Cho, M.T.; Retterer, K.; Millan, F.; Nowak, C.; Douglas, J.; Ahmad, A.; Raymond, G.V.; Johnson, M.R.; Pujol, A.; Begtrup, A.; McKnight, D.; Devinsky, O.; Chung, W.K.
Journal:
Clinical genetics
Issue:
Volume 91:Issue 5(2017)
Page Start:
756
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. De novo variants in CDK13 associated with syndromic ID/DD: Molecular and clinical delineation of 15 individuals and a further review. Issue 5 (14th April 2018)

Authors:
van den Akker, W.M.R.; Brummelman, I.; Martis, L.M.; Timmermans, R.N.; Pfundt, R.; Kleefstra, T.; Willemsen, M.H.; Gerkes, E.H.; Herkert, J.C.; van Essen, A.J.; Rump, P.; Vansenne, F.; Terhal, P.A.; van Haelst, M.M.; Cristian, I.; Turner, C.E.; Cho, M.T.; Begtrup, A.; Willaert, R.; Fassi, E.
Journal:
Clinical genetics
Issue:
Volume 93:Issue 5(2018)
Page Start:
1000
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

5. Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact. Issue 5 (13th March 2018)

Authors:
Wynn, J.; Ottman, R.; Duong, J.; Wilson, A.L.; Ahimaz, P.; Martinez, J.; Rabin, R.; Rosen, E.; Webster, R.; Au, C.; Cho, M.T.; Egan, C.; Guzman, E.; Primiano, M.; Shaw, J.E.; Sisson, R.; Klitzman, R.L.; Appelbaum, P.S.; Lichter‐Konecki, U.; Anyane‐Yeboa, K.
Journal:
Clinical genetics
Issue:
Volume 93:Issue 5(2018)
Page Start:
1039
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

6. Expansion and further delineation of the SETD5 phenotype leading to global developmental delay, variable dysmorphic features, and reduced penetrance. Issue 4 (7th January 2018)

Authors:
Powis, Z.; Farwell Hagman, K.D.; Mroske, C.; McWalter, K.; Cohen, J.S.; Colombo, R.; Serretti, A.; Fatemi, A.; David, K.L.; Reynolds, J.; Immken, L.; Nagakura, H.; Cunniff, C.M.; Payne, K.; Barbaro‐Dieber, T.; Gripp, K.W.; Baker, L.; Stamper, T.; Aleck, K.A.; Jordan, E.S.
Journal:
Clinical genetics
Issue:
Volume 93:Issue 4(2018)
Page Start:
752
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗