Threshold for neural tube defect risk by accumulated singleton loss-of-function variants

Zhongzhong Chen; Yunping Lei; Yufang Zheng; Vanessa Aguiar-Pulido; M Elizabeth Ross; Rui Peng; Li Jin; Ting Zhang; Richard H Finnell; Hongyan Wang

doi:10.1038/s41422-018-0061-3

Threshold for neural tube defect risk by accumulated singleton loss-of-function variants

Cell Res. 2018 Oct;28(10):1039-1041. doi: 10.1038/s41422-018-0061-3. Epub 2018 Jul 5.

Authors

Zhongzhong Chen^#^{1

2}, Yunping Lei^#^{3

4}, Yufang Zheng^#^{1

2

5}, Vanessa Aguiar-Pulido⁶, M Elizabeth Ross⁶, Rui Peng¹, Li Jin^{1

2}, Ting Zhang⁷, Richard H Finnell^{8

9}, Hongyan Wang^{10

11

12

13}

Affiliations

¹ Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Reproduction and Development, Fudan University, Shanghai, 200011, China.
² Key Laboratory of Reproduction Regulation of NPFPC, Collaborative Innovation Center of Genetics and Development, Fudan University, Shanghai, 200032, China.
³ Departments of Molecular and Cellular Biology and Medicine, Baylor College of Medicine, Houston, TX, 77030, USA.
⁴ Collaborative Innovation Center for Genetics & Development, School of Life Sciences, Fudan University, Shanghai, 200438, China.
⁵ Institute of Developmental Biology & Molecular Medicine, Fudan University, Shanghai, 200433, China.
⁶ Center for Neurogenetics, Weill Cornell Medicine, New York, NY, 10021, USA.
⁷ Capital Institute of Pediatrics, Beijing, 100020, China. [email protected].
⁸ Departments of Molecular and Cellular Biology and Medicine, Baylor College of Medicine, Houston, TX, 77030, USA. [email protected].
⁹ Collaborative Innovation Center for Genetics & Development, School of Life Sciences, Fudan University, Shanghai, 200438, China. [email protected].
¹⁰ Obstetrics and Gynecology Hospital, State Key Laboratory of Genetic Engineering at School of Life Sciences, Institute of Reproduction and Development, Fudan University, Shanghai, 200011, China. [email protected].
¹¹ Key Laboratory of Reproduction Regulation of NPFPC, Collaborative Innovation Center of Genetics and Development, Fudan University, Shanghai, 200032, China. [email protected].
¹² Children's Hospital, Fudan University, 399 Wanyuan Road, Shanghai, 201102, China. [email protected].
¹³ Institutes of Biomedical Sciences, Fudan University, Shanghai, 200032, China. [email protected].

^# Contributed equally.

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't

MeSH terms

Asian People / genetics
Case-Control Studies
Child
Child, Preschool
China / epidemiology
Databases, Genetic
Exome Sequencing
Female
Gestational Age
Human Genome Project
Humans
Loss of Function Mutation
Male
Mutation, Missense
Neural Tube Defects / epidemiology
Neural Tube Defects / genetics*
Neural Tube Defects / pathology
Odds Ratio
Pregnancy
Risk

Publication types

MeSH terms

Grants and funding