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De novo missense variants in ZBTB47 are associated with developmental delays, hypotonia, seizures, gait abnormalities, and variable movement abnormalities.
Published in:
American Journal of Medical Genetics. Part A, 2024, v. 194, n. 1, p. 17, doi. 10.1002/ajmg.a.63399
By:
- Ward, Scott K.;
- Wadley, Alexandrea;
- Tsai, Chun‐hui;
- Benke, Paul J.;
- Emrick, Lisa;
- Fisher, Kristen;
- Houck, Kimberly M.;
- Dai, Hongzheng;
- Acosta, Maria T.;
- Adam, Margaret;
- Adams, David R.;
- Alvarez, Raquel L.;
- Alvey, Justin;
- Amendola, Laura;
- Andrews, Ashley;
- Ashley, Euan A.;
- Bacino, Carlos A.;
- Bademci, Guney;
- Balasubramanyam, Ashok;
- Baldridge, Dustin
Publication type:
Article
Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease.
Published in:
American Journal of Medical Genetics. Part A, 2017, v. 173, n. 9, p. 2500, doi. 10.1002/ajmg.a.38333
By:
- Tsai, Anne Chun‐Hui;
- Hung, Yu‐Wen;
- Harding, Cary;
- Koeller, David M.;
- Wang, Jing;
- Wong, Lee‐Jun C.
Publication type:
Article
Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx.
Published in:
American Journal of Medical Genetics. Part A, 2011, v. 155A, n. 11, p. 2766, doi. 10.1002/ajmg.a.34227
By:
- Parsley, Lea;
- Bellus, Gary;
- Handler, Michael;
- Tsai, Anne Chun-Hui
Publication type:
Article
Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
Published in:
Nature Genetics, 2012, v. 44, n. 6, p. 639, doi. 10.1038/ng.2262
By:
- Koolen, David A;
- Kramer, Jamie M;
- Neveling, Kornelia;
- Nillesen, Willy M;
- Moore-Barton, Heather L;
- Elmslie, Frances V;
- Toutain, Annick;
- Amiel, Jeanne;
- Malan, Valérie;
- Tsai, Anne Chun-Hui;
- Cheung, Sau Wai;
- Gilissen, Christian;
- Verwiel, Eugene T P;
- Martens, Sarah;
- Feuth, Ton;
- Bongers, Ernie M H F;
- de Vries, Petra;
- Scheffer, Hans;
- Vissers, Lisenka E L M;
- de Brouwer, Arjan P M
Publication type:
Article
Population genetics analysis of SLC3A1 and SLC7A9 revealed the etiology of cystine stone may be more than what our current genetic knowledge can explain.
Published in:
Urolithiasis, 2023, v. 51, n. 1, p. 1, doi. 10.1007/s00240-023-01473-z
By:
- Wu, Chen-Han Wilfred;
- Badreddine, Jad;
- Chang, Joshua;
- Huang, Yu-Ren Mike;
- Kim, Fernando J.;
- Wild, Trevor;
- Tsai, Anne Chun-Hui;
- Meeks, Naomi;
- Donalisio Da Silva, Rodrigo;
- Molina, Wilson R.;
- Schumacher, Fredrick R.
Publication type:
Article
Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
Published in:
European Journal of Human Genetics, 2014, v. 22, n. 1, p. 79, doi. 10.1038/ejhg.2013.77
By:
- Wiszniewska, Joanna;
- Bi, Weimin;
- Shaw, Chad;
- Stankiewicz, Pawel;
- Kang, Sung-Hae L;
- Pursley, Amber N;
- Lalani, Seema;
- Hixson, Patricia;
- Gambin, Tomasz;
- Tsai, Chun-hui;
- Bock, Hans-Georg;
- Descartes, Maria;
- Probst, Frank J;
- Scaglia, Fernando;
- Beaudet, Arthur L;
- Lupski, James R;
- Eng, Christine;
- Wai Cheung, Sau;
- Bacino, Carlos;
- Patel, Ankita
Publication type:
Article
Deletions flanked by breakpoints 3 and 4 on 15q13 may contribute to abnormal phenotypes.
Published in:
European Journal of Human Genetics, 2011, v. 19, n. 5, p. 547, doi. 10.1038/ejhg.2010.237
By:
- Rosenfeld, Jill A.;
- Stephens, Lindsey E.;
- Coppinger, Justine;
- Ballif, Blake C;
- Hoo, Joe J.;
- French, Beatrice N.;
- Banks, Valerie C.;
- Smith, Wendy E.;
- Manchester, David;
- Tsai, Anne Chun-Hui;
- Merrion, Katrina;
- Mendoza-Londono, Roberto;
- Dupuis, Lucie;
- Schultz, Roger;
- Torchia, Beth;
- Sahoo, Trilochan;
- Bejjani, Bassem;
- Weaver, David D.;
- Shaffer, Lisa G.
Publication type:
Article
Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein-Taybi syndrome detected by aCGH.
Published in:
2011
By:
- Tsai, Anne Chun-Hui;
- Dossett, Cherilyn J.;
- Walton, Carol S.;
- Cramer, Andrea E.;
- Eng, Patti A.;
- Nowakowska, Beata A.;
- Pursley, Amber N.;
- Stankiewicz, Pawel;
- Wiszniewska, Joanna;
- Sau Wai Cheung
Publication type:
Case Study

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