Use of medical exome sequencing for identification of underlying genetic defects in NICU: Experience in a cohort of 2303 neonates in China.

Autor: Yang, Lin, Wei, Zejun, Chen, Xiang, Hu, Liyuan, Peng, Xiaomin, Wang, Jin, Lu, Chunmei, Kong, Yanting, Dong, Xinran, Ni, Qi, Lu, Yulan, Wu, Bingbing, Wang, Huijun, Meirelles, Katia, Tian, Xia, Zhang, Jing, Chang, Fengqi, Liu, Liu, Li, Changhua, You, Wesley

Publikováno v: Clinical Genetics; Jan2022, Vol. 101 Issue 1, p101-109, 9p

Genetic and molecular mechanism for distinct clinical phenotypes conveyed by allelic truncating mutations implicated in FBN1.

Autor: Lin M; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Graduate School of Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China., Liu Z; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Department of Neurosurgery, Xuanwu Hospital, Capital Medical University, Beijing, China., Liu G; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China., Zhao S; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China., Li C; College of Life and Health Sciences, Northeastern University, ShenYang, China., Chen W; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Graduate School of Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China., Coban Akdemir Z; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Lin J; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Graduate School of Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China., Song X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Wang S; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China., Xu Q; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China., Zhao Y; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China., Wang L; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Graduate School of Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China., Zhang Y; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Graduate School of Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China., Yan Z; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Graduate School of Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing, China., Liu S; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China., Liu J; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Department of Breast Surgical Oncology, National Cancer Center /National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China., Chen Y; Department of Cardiovascular Surgery, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China., Zuo Y; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China., Yang X; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China., Sun T; Medical Research Center & Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China., Yang XZ; Medical Research Center & Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China., Niu Y; Medical Research Center & Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China., Li X; Medical Research Center & Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China., You W; Amherst College, Amherst, MA, USA., Qiu B; Medical Research Center & Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China., Ding C; College of Life and Health Sciences, Northeastern University, ShenYang, China., Liu P; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics Laboratory, Houston, TX, USA., Zhang S; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Department of Cardiology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China., Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Posey JE; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA., Qiu G; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Departments of Pediatrics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA., Wu Z; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Medical Research Center & Department of Central Laboratory, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China., Zhang J; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China., Wu N; Department of Orthopedic Surgery, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.; Beijing Key Laboratory for Genetic Research of Skeletal Deformity, Beijing, China.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Medical Research Center of Orthopedics, Chinese Academy of Medical Sciences, Beijing, China.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

Publikováno v: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2020 Jan; Vol. 8 (1), pp. e1023. Date of Electronic Publication: 2019 Nov 27.