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Molecular Genetics & Genomic Medicine|March 29, 2019
Co-occurrence of ATXN3 and ATXN2 repeat expansions in Chinese ataxia patients with slow saccadesChao Wu, Qiong Cai, Huajing You, et al.
Molecular Genetics & Genomic Medicine|March 21, 2019
Expansion of the phenotypic spectrum and description of molecular findings in a cohort of patients with oculocutaneous mosaic RASopathiesOscar F Chacon-Camacho, Daniel Lopez-Moreno, Martha A Morales-Sanchez, et al.
Molecular Genetics & Genomic Medicine|March 28, 2019
A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype-phenotype correlationsMartha Montalván-Suárez, Uxia Saraiva Esperón-Moldes, Laura Rodríguez-Pazos, et al.
Molecular Genetics & Genomic Medicine|August 28, 2019
A start codon mutation of the TSPAN12 gene in Chinese families causes clinical heterogeneous familial exudative vitreoretinopathyWei Li, Ziwei Wang, Yan Sun, et al.
Molecular Genetics & Genomic Medicine|August 28, 2019
Uniparental isodisomy caused autosomal recessive diseases: NGS-based analysis allows the concurrent detection of homogenous variants and copy-neutral loss of heterozygosityBing Xiao, Lili Wang, Huili Liu, et al.
Molecular Genetics & Genomic Medicine|August 10, 2019
Intestinal tumors in neurofibromatosis 1 with special reference to fatal gastrointestinal stromal tumors (GIST)Heli Ylä-Outinen, Niina Loponen, Roope A Kallionpää, et al.
Molecular Genetics & Genomic Medicine|August 10, 2019
Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genesMaría Carmen Barboza-Cerda, Oralia Barboza-Quintana, Gerardo Martínez-Aldape, et al.
Molecular Genetics & Genomic Medicine|August 11, 2019
Variant analysis in Chinese families with hereditary hemorrhagic telangiectasiaYali Zhao, Yuan Zhang, Xiangdong Wang, et al.
Molecular Genetics & Genomic Medicine|March 30, 2019
Two de novo GJA1 mutation in two sporadic patients with erythrokeratodermia variabilis et progressivaChangxing Li, Jingyao Liang, Pingjiao Chen, et al.
Molecular Genetics & Genomic Medicine|September 5, 2019
CASQ2 variants in Chinese children with catecholaminergic polymorphic ventricular tachycardiaQirui Li, Ruolan Guo, Lu Gao, et al.
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