Litcius/Paper detail

NCKAP1 Disruptive Variants Lead to a Neurodevelopmental Disorder with Core Features of Autism

Hui Guo, Qiumeng Zhang, Rujia Dai, Bin Yu, Kendra Hoekzema, Jieqiong Tan, Senwei Tan, Xiangbin Jia, Wendy K. Chung, Rebecca Hernan, Fowzan S. Alkuraya, Ahood Alsulaiman, Mohammad A. Al–Muhaizea, Gaëtan Lesca, Linda Pons, Audrey Labalme, Linda Laux, Emily Bryant, Natasha J. Brown, Elena Savva, Samantha Ayres, Dhamidhu Eratne, Hilde Peeters, Frédéric Bilan, Lucile Letienne-Cejudo, Brigitte Gilbert‐Dussardier, Inge-Lore Ruiz-Arana, Jenny Meylan Merlini, Alexia Boizot, Lucia Bartoloni, Federico Santoni, Danielle Karlowicz, Marie McDonald, Huidan Wu, Zhengmao Hu, Guodong Chen, Jianjun Ou, Charlotte Brasch‐Andersen, Christina Fagerberg, Inken Dreyer, Anne Chun‐Hui Tsai, Valerie Slegesky, Rose B. McGee, Brina Daniels, Elizabeth A. Sellars, Lori Carpenter, Bradley E. Schaefer, María J. Guillen Sacoto, Amber Begtrup, Rhonda E. Schnur, Sumit Punj, Ingrid M. Wentzensen, Lindsay Rhodes, Qian Pan, Raphael Bernier, Chao Chen, Evan E. Eichler, Kun Xia

2020The American Journal of Human Genetics42 citationsDOIOpen Access PDF

Topics & Concepts

AutismIntellectual disabilityNeurodevelopmental disorderPhenotypeMissense mutationAutism spectrum disorderBiologyNeuroscienceNeural developmentDevelopmental disorderGeneticsPsychologyGenePsychiatryGenetics and Neurodevelopmental DisordersGenomics and Rare DiseasesCongenital heart defects research