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Human Genetics|April 3, 2021
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndromeDong Li, Michael E March, Paola Fortugno, et al.
American Journal of Medical Genetics. Part A|June 6, 2020
Activating variants in PDGFRB result in a spectrum of disorders responsive to imatinib monotherapyTara L Wenger, Randall A Bly, Natalie Wu, et al.
American Journal of Human Genetics|December 5, 2017
Monoallelic BMP2 Variants Predicted to Result in Haploinsufficiency Cause Craniofacial, Skeletal, and Cardiac Features Overlapping Those of 20p12 DeletionsTiong Yang Tan, Claudia Gonzaga-Jauregui, Elizabeth J Bhoj, et al.
Science Advances|May 13, 2021
Pathogenic variants in SMARCA5, a chromatin remodeler, cause a range of syndromic neurodevelopmental featuresDong Li, Qin Wang, Naihua N Gong, et al.
HGG Advances|April 26, 2022
Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphologyAndrew K Sobering, Laura M Bryant, Dong Li, et al.
HGG Advances|December 30, 2022
Erratum: Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphologyAndrew K Sobering, Laura M Bryant, Dong Li, et al.
Cell|March 17, 2023
Single substitution in H3.3G34 alters DNMT3A recruitment to cause progressive neurodegenerationSima Khazaei, Carol C L Chen, Augusto Faria Andrade, et al.
The Journal of Clinical Investigation|June 11, 2026
Biallelic inactivating variants in the chromatin remodeler DMAP1 cause a syndromic neurodevelopmental disorderQin Wang, Andrew K Sobering, Christian Tirrito, et al.
Nature Communications|July 11, 2023
Gain and loss of function variants in EZH1 disrupt neurogenesis and cause dominant and recessive neurodevelopmental disordersCarolina Gracia-Diaz, Yijing Zhou, Qian Yang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 9, 2022
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variantsSayaka Kayumi, Luis A Pérez-Jurado, María Palomares, et al.
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