Perturbations of genes essential for Müllerian duct and Wölffian duct development in Mayer-Rokitansky-Küster-Hauser syndrome

Na Chen, Sen Zhao, Angad Jolly, +29

The American Journal of Human Genetics

Wölffian Duct DevelopmentDevelopmental BiologyMendelian DisorderGenetic DisorderDevelopmental Genetics +9

Diagnostic yield and clinical impact of exome sequencing in early-onset scoliosis (EOS)

Sen Zhao, Yuanqiang Zhang, Wei‐Sheng Chen, +57

Journal of Medical Genetics

Deep learning-based multimodal image analysis for cervical cancer detection

Yue Ming, Xiying Dong, Jihuai Zhao, +3

Methods

Dermoscopic ImageCervical Cancer DetectionConvolutional Neural NetworkImage AnalysisCervical Cancer +7

De novo variants in H3-3A and H3-3B are associated with neurodevelopmental delay, dysmorphic features, and structural brain abnormalities

Volkan Okur, Zefu Chen, Liesbeth Vossaert, +35

npj Genomic Medicine

Phenotypic and genetic spectrum of isolated macrodactyly: somatic mosaicism of PIK3CA and AKT1 oncogenic variants

Yingzhao Huang, Li‐Ying Sun, Yang Guo, +17

Orphanet Journal of Rare Diseases

Expanding the mutation and phenotype spectrum of MYH3-associated skeletal disorders

Sen Zhao, Yuanqiang Zhang, Sigrún Hallgrímsdóttir, +29

npj Genomic Medicine

Short StatureGeneticsGenetic EpidemiologyPathologyDisease Gene Identification +18

SIGMA leverages protein structural information to predict the pathogenicity of missense variants

Hengqiang Zhao, Huakang Du, Sen Zhao, +14

Cell Reports Methods

Structural InformationGeneticsMolecular BiologyDisease Gene IdentificationComputational Genomics +19

Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Short Stature

Qing Li, Zefu Chen, Jie Wang, +6

JAMA Pediatrics

PhenoApt leverages clinical expertise to prioritize candidate genes via machine learning

Zefu Chen, Yu Zheng, Yongxin Yang, +16

The American Journal of Human Genetics

Candidate GenesPhenomicsFunctional GenomicsMachine LearningEngineering +10

Functional characteristics of a broad spectrum of TBX6 variants in Mayer-Rokitansky-Küster-Hauser syndrome

Congcong Ma, Na Chen, Angad Jolly, +33

Genetics in Medicine

Clinical DisordersFunctional CharacteristicsMendelian DisorderGenetic DisorderGenetics +9