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Molecular Genetics & Genomic Medicine|August 7, 2020
Oncogenic mutations within the β3-αC loop of EGFR/ERBB2/BRAF/MAP2K1 predict response to therapiesBiao Zhang, Yongsheng Chen, Pingping Dai, et al.
Molecular Genetics & Genomic Medicine|August 9, 2020
Gene mutations associated with early onset familial Alzheimer's disease in China: An overview and current statusQi Qin, Yunsi Yin, Yan Wang, et al.
Molecular Genetics & Genomic Medicine|August 9, 2020
Community-based recruitment and exome sequencing indicates high diagnostic yield in adults with intellectual disabilityAniko Sabo, David Murdock, Shannon Dugan, et al.
Molecular Genetics & Genomic Medicine|August 13, 2020
A novel large deletion of the CYLD gene causes CYLD cutaneous syndrome in a Chinese familyRuizheng Zhu, Jie Xu, Juan Shen, et al.
Molecular Genetics & Genomic Medicine|April 1, 2021
Severe brain calcification and migraine headache caused by SLC20A2 and PDGFRB heterozygous mutations in a five-year-old Chinese girlHao Sun, Zhijian Cao, Ruixi Gao, et al.
Molecular Genetics & Genomic Medicine|July 31, 2020
Phenotypic variance in monozygotic twins with SCA3Hua Zhao, Lu Yang, Yi Dong, et al.
Molecular Genetics & Genomic Medicine|July 9, 2020
Spectrum of gene mutations identified by targeted next-generation sequencing in Chinese leukemia patientsHongxia Yao, Congming Wu, Yueqing Chen, et al.
Molecular Genetics & Genomic Medicine|July 31, 2020
Missed diagnoses: Clinically relevant lessons learned through medical mysteries solved by the Undiagnosed Diseases NetworkHeidi Cope, Rebecca Spillmann, Jill A Rosenfeld, et al.
Molecular Genetics & Genomic Medicine|August 4, 2020
Single-cell RNA sequencing analysis of human kidney reveals the presence of ACE2 receptor: A potential pathway of COVID-19 infectionQiyu He, Tsz N Mok, Liang Yun, et al.
Molecular Genetics & Genomic Medicine|July 7, 2020
Aberrant X chromosomal rearrangement through multi-step template switching during sister chromatid formation in a patient with severe hemophilia AMahiru Tokoro, Shogo Tamura, Nobuaki Suzuki, et al.
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