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Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Published in:
Genome Medicine, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13073-022-01113-y
By:
- Yuan, Bo;
- Schulze, Katharina V.;
- Assia Batzir, Nurit;
- Sinson, Jefferson;
- Dai, Hongzheng;
- Zhu, Wenmiao;
- Bocanegra, Francia;
- Fong, Chin-To;
- Holder, Jimmy;
- Nguyen, Joanne;
- Schaaf, Christian P.;
- Yang, Yaping;
- Bi, Weimin;
- Eng, Christine;
- Shaw, Chad;
- Lupski, James R.;
- Liu, Pengfei
Publication type:
Article
Biallelic mutation of FBXL7 suggests a novel form of Hennekam syndrome.
Published in:
American Journal of Medical Genetics. Part A, 2020, v. 182, n. 1, p. 189, doi. 10.1002/ajmg.a.61392
By:
- Boone, Philip M.;
- Paterson, Scott;
- Mohajeri, Kiana;
- Zhu, Wenmiao;
- Genetti, Casie A.;
- Tai, Derek J. C.;
- Nori, Neeharika;
- Agrawal, Pankaj B.;
- Bacino, Carlos A.;
- Bi, Weimin;
- Talkowski, Michael E.;
- Hogan, Benjamin M.;
- Rodan, Lance H.
Publication type:
Article
Two de novo novel mutations in one <italic>SHANK3</italic> allele in a patient with autism and moderate intellectual disability.
Published in:
American Journal of Medical Genetics. Part A, 2018, v. 176, n. 4, p. 973, doi. 10.1002/ajmg.a.38622
By:
- Zhu, Wenmiao;
- Li, Jianli;
- Chen, Stella;
- Zhang, Jinglan;
- Vetrini, Francesco;
- Braxton, Alicia;
- Eng, Christine M.;
- Yang, Yaping;
- Xia, Fan;
- Keller, Kory L.;
- Okinaka‐Hu, Leila;
- Lee, Chung;
- Holder, Jr, J. Lloyd;
- Bi, Weimin
Publication type:
Article
CRIPT exonic deletion and a novel missense mutation in a female with short stature, dysmorphic features, microcephaly, and pigmentary abnormalities.
Published in:
American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 8, p. 2206, doi. 10.1002/ajmg.a.37780
By:
- Leduc, Magalie S.;
- Niu, Zhiyv;
- Bi, Weimin;
- Zhu, Wenmiao;
- Miloslavskaya, Irene;
- Chiang, Theodore;
- Streff, Haley;
- Seavitt, John R.;
- Murray, Stephen A.;
- Eng, Christine;
- Chan, Audrey;
- Yang, Yaping;
- Lalani, Seema R.
Publication type:
Article
Concerted action of poly(A) nucleases and decapping enzyme in mammalian mRNA turnover.
Published in:
Nature Structural & Molecular Biology, 2005, v. 12, n. 12, p. 1054, doi. 10.1038/nsmb1016
By:
- Yamashita, Akio;
- Tsung-Cheng Chang;
- Yamashita, Yukiko;
- Wenmiao Zhu;
- Zhenping Zhong;
- Chen, Chyi-Ying A.;
- Ann-Bin Shyu
Publication type:
Article
Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.
Published in:
Human Genetics, 2017, v. 136, n. 4, p. 377, doi. 10.1007/s00439-017-1763-1
By:
- Zhang, Jing;
- Gambin, Tomasz;
- Yuan, Bo;
- Roeder, Elizabeth;
- Bonneau, Dominique;
- Denommé-Pichon, Anne-Sophie;
- Zhu, Wenmiao;
- He, Weimin;
- Vetrini, Francesco;
- Ward, Patricia;
- Cheung, Sau;
- Bi, Weimin;
- Eng, Christine;
- Lupski, James;
- Yang, Yaping;
- Patel, Ankita;
- Lalani, Seema;
- Xia, Fan;
- Stankiewicz, Paweł;
- Szafranski, Przemyslaw
Publication type:
Article
PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy.
Published in:
Clinical Genetics, 2021, v. 100, n. 2, p. 227, doi. 10.1111/cge.13979
By:
- Panneerselvam, Sugi;
- Wang, Julia;
- Zhu, Wenmiao;
- Dai, Hongzheng;
- Pappas, John G.;
- Rabin, Rachel;
- Low, Karen J.;
- Rosenfeld, Jill A.;
- Emrick, Lisa;
- Xiao, Rui;
- Xia, Fan;
- Yang, Yaping;
- Eng, Christine M.;
- Anderson, Anne;
- Chau, Vann;
- Soler‐Alfonso, Claudia;
- Streff, Haley;
- Lalani, Seema R.;
- Mercimek‐Andrews, Saadet;
- Bi, Weimin
Publication type:
Article
Deadenylation is prerequisite for P-body formation and mRNA decay in mammalian cells.
Published in:
Journal of Cell Biology, 2008, v. 182, n. 1, p. 89, doi. 10.1083/jcb.200801196
By:
- Dinghai Zheng;
- Ezzeddine, Nader;
- Chen, Chyi-Ying A.;
- Wenmiao Zhu;
- Xiangwei He;
- Shyu, Ann-Bin
Publication type:
Article
A recurrent single‐exon deletion in TBCK might be under‐recognized in patients with infantile hypotonia and psychomotor delay.
Published in:
Human Mutation, 2022, v. 43, n. 12, p. 1816, doi. 10.1002/humu.24497
By:
- Dai, Hongzheng;
- Zhu, Wenmiao;
- Yuan, Bo;
- Walley, Nicole;
- Schoch, Kelly;
- Jiang, Yong‐Hui;
- Phillips, John A.;
- Jones, Melissa S.;
- Liu, Pengfei;
- Murdock, David R.;
- Burrage, Lindsay C.;
- Lee, Brendan;
- Rosenfeld, Jill A.;
- Xiao, Rui
Publication type:
Article
Correction to: De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome.
Published in:
2019
By:
- Vetrini, Francesco;
- McKee, Shane;
- Rosenfeld, Jill A.;
- Suri, Mohnish;
- Lewis, Andrea M.;
- Nugent, Kimberly Margaret;
- Roeder, Elizabeth;
- Littlejohn, Rebecca O.;
- Holder, Sue;
- Zhu, Wenmiao;
- Alaimo, Joseph T.;
- Graham, Brett;
- Harris, Jill M.;
- Gibson, James B.;
- Pastore, Matthew;
- McBride, Kim L.;
- Komara, Makanko;
- Al-Gazali, Lihadh;
- Al Shamsi, Aisha;
- Fanning, Elizabeth A.
Publication type:
Correction Notice
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith–Magenis syndrome.
Published in:
Genome Medicine, 2019, v. 11, n. 1, p. N.PAG, doi. 10.1186/s13073-019-0623-0
By:
- Vetrini, Francesco;
- McKee, Shane;
- Rosenfeld, Jill A.;
- Suri, Mohnish;
- Lewis, Andrea M.;
- Nugent, Kimberly Margaret;
- Roeder, Elizabeth;
- Littlejohn, Rebecca O.;
- Holder, Sue;
- Zhu, Wenmiao;
- Alaimo, Joseph T.;
- Graham, Brett;
- Harris, Jill M.;
- Gibson, James B.;
- Pastore, Matthew;
- McBride, Kim L.;
- Komara, Makanko;
- Al-Gazali, Lihadh;
- Al Shamsi, Aisha;
- Fanning, Elizabeth A.
Publication type:
Article

Found: 11