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Phenotypic expansion in DDX3X – a common cause of intellectual disability in females.
Published in:
Annals of Clinical & Translational Neurology, 2018, v. 5, n. 10, p. 1277, doi. 10.1002/acn3.622
By:
- Posey, Jennifer E.;
- Rosenfeld, Jill A.;
- Jiang, Yunyun;
- Darilek, Sandra A.;
- Hansen, Adam W.;
- Khayat, Michael M.;
- Hanchard, Neil;
- Belmont, John W.;
- Eldomery, Mohammad K.;
- Akdemir, Zeynep C.;
- Chen, Shan;
- Lee, Yi‐Chien;
- Lee, Brendan;
- Muzny, Donna M.;
- Gibbs, Richard A.;
- Moretti, Paolo;
- Wang, Xia;
- Leduc, Magalie S.;
- Walkiewicz, Magdalena A.;
- Bi, Weimin
Publication type:
Article
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia–Gibbs syndrome.
Published in:
Human Mutation, 2021, v. 42, n. 5, p. 577, doi. 10.1002/humu.24190
By:
- Khayat, Michael M.;
- Li, He;
- Chander, Varuna;
- Hu, Jianhong;
- Hansen, Adam W.;
- Li, Shoudong;
- Traynelis, Josh;
- Shen, Hua;
- Weissenberger, George;
- Stossi, Fabio;
- Johnson, Hannah L.;
- Lupski, James R.;
- Posey, Jennifer E.;
- Sabo, Aniko;
- Meng, Qingchang;
- Murdock, David R.;
- Wangler, Michael;
- Gibbs, Richard A.
Publication type:
Article
Phenotypic expansion in KIF1A‐related dominant disorders: A description of novel variants and review of published cases.
Published in:
Human Mutation, 2020, v. 41, n. 12, p. 2094, doi. 10.1002/humu.24118
By:
- Montenegro‐Garreaud, Ximena;
- Hansen, Adam W.;
- Khayat, Michael M.;
- Chander, Varuna;
- Grochowski, Christopher M.;
- Jiang, Yunyun;
- Li, He;
- Mitani, Tadahiro;
- Kessler, Elena;
- Jayaseelan, Joy;
- Shen, Hua;
- Gezdirici, Alper;
- Pehlivan, Davut;
- Meng, Qingchang;
- Rosenfeld, Jill A.;
- Jhangiani, Shalini N.;
- Madan‐Khetarpal, Suneeta;
- Scott, Daryl A.;
- Abarca‐Barriga, Hugo;
- Trubnykova, Milana
Publication type:
Article

Found: 3

Phenotypic expansion in DDX3X – a common cause of intellectual disability in females.

Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein‐truncating alleles in Xia–Gibbs syndrome.

Phenotypic expansion in KIF1A‐related dominant disorders: A description of novel variants and review of published cases.