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Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 10, p. 2861, doi. 10.1093/hmg/ddv046
By:
- Brookes, Emily;
- Laurent, Benoit;
- Õunap, Katrin;
- Carroll, Renee;
- Moeschler, John B.;
- Field, Michael;
- Schwartz, Charles E.;
- Gecz, Jozef;
- Yang Shi
Publication type:
Article
Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.
Published in:
Frontiers in Molecular Neuroscience, 2020, v. 13, p. 1, doi. 10.3389/fnmol.2020.00012
By:
- Kumar, Raman;
- Palmer, Elizabeth;
- Gardner, Alison E.;
- Carroll, Renee;
- Banka, Siddharth;
- Abdelhadi, Ola;
- Donnai, Dian;
- Elgersma, Ype;
- Curry, Cynthia J.;
- Gardham, Alice;
- Suri, Mohnish;
- Malla, Rishikesh;
- Brady, Lauren Ilana;
- Tarnopolsky, Mark;
- Azmanov, Dimitar N.;
- Atkinson, Vanessa;
- Black, Michael;
- Baynam, Gareth;
- Dreyer, Lauren;
- Hayeems, Robin Z.
Publication type:
Article
Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability.
Published in:
Human Mutation, 2021, v. 42, n. 7, p. 835, doi. 10.1002/humu.24207
By:
- Field, Michael J.;
- Kumar, Raman;
- Hackett, Anna;
- Kayumi, Sayaka;
- Shoubridge, Cheryl A.;
- Ewans, Lisa J.;
- Ivancevic, Atma M.;
- Dudding‐Byth, Tracy;
- Carroll, Renée;
- Kroes, Thessa;
- Gardner, Alison E.;
- Sullivan, Patricia;
- Ha, Thuong T.;
- Schwartz, Charles E.;
- Cowley, Mark J.;
- Dinger, Marcel E.;
- Palmer, Elizabeth E.;
- Christie, Louise;
- Shaw, Marie;
- Roscioli, Tony
Publication type:
Article
Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Published in:
2020
By:
- Wang, Tianyun;
- Hoekzema, Kendra;
- Vecchio, Davide;
- Wu, Huidan;
- Sulovari, Arvis;
- Coe, Bradley P.;
- Gillentine, Madelyn A.;
- Wilfert, Amy B.;
- Perez-Jurado, Luis A.;
- Kvarnung, Malin;
- Sleyp, Yoeri;
- Earl, Rachel K.;
- Rosenfeld, Jill A.;
- Geisheker, Madeleine R.;
- Han, Lin;
- Du, Bing;
- Barnett, Chris;
- Thompson, Elizabeth;
- Shaw, Marie;
- Carroll, Renee
Publication type:
Correction Notice
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Published in:
Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-18723-y
By:
- Wang, Tianyun;
- Hoekzema, Kendra;
- Vecchio, Davide;
- Wu, Huidan;
- Sulovari, Arvis;
- Coe, Bradley P.;
- Gillentine, Madelyn A.;
- Wilfert, Amy B.;
- Perez-Jurado, Luis A.;
- Kvarnung, Malin;
- Sleyp, Yoeri;
- Earl, Rachel K.;
- Rosenfeld, Jill A.;
- Geisheker, Madeleine R.;
- Han, Lin;
- Du, Bing;
- Barnett, Chris;
- Thompson, Elizabeth;
- Shaw, Marie;
- Carroll, Renee
Publication type:
Article

Found: 5

Mutations in the intellectual disability gene KDM5C reduce protein stability and demethylase activity.

Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor.

Different types of disease‐causing noncoding variants revealed by genomic and gene expression analyses in families with X‐linked intellectual disability.

Author Correction: Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.