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Molecular Genetics & Genomic Medicine|May 4, 2021
A novel EDAR missense mutation identified by whole-exome sequencing with non-syndromic tooth agenesis in a Chinese familyHongyu Zhang, Xuanting Kong, Jiabao Ren, et al.
Molecular Genetics & Genomic Medicine|May 4, 2021
A novel essential splice site variant in SPTB in a large hereditary spherocytosis familyTaina T Nieminen, Sandya Liyanarachchi, Daniel F Comiskey, et al.
Molecular Genetics & Genomic Medicine|May 6, 2021
Molecular basis of various forms of maple syrup urine disease in Chilean patientsDiana Ruffato Resende Campanholi, Ana Vitoria Barban Margutti, Wilson A Silva, et al.
Molecular Genetics & Genomic Medicine|June 11, 2020
A novel missense variant in MYO3A is associated with autosomal dominant high-frequency hearing loss in a German familyJulia Doll, Michaela A H Hofrichter, Paulina Bahena, et al.
Molecular Genetics & Genomic Medicine|June 13, 2020
ALG12-CDG: An unusual patient without intellectual disability and facial dysmorphism, and with a novel variantMaría Eugenia de la Morena-Barrio, María Sabater, Belén de la Morena-Barrio, et al.
Molecular Genetics & Genomic Medicine|November 11, 2022
Compound heterozygous loss-of-function variants in BRAT1 cause lethal neonatal rigidity and multifocal seizure syndromeShan Li, Shunan Yu, Yanzhuo Zhang, et al.
Molecular Genetics & Genomic Medicine|November 12, 2022
Elevated plasma miR-210 expression is associated with atypical genitalia in patients with 46,XY differences in sex developmentFelipe Martins Elias, Mirian Yumi Nishi, Maria Helena Palma Sircili, et al.
Molecular Genetics & Genomic Medicine|November 12, 2022
Frataxin deficiency alters gene expression in Friedreich ataxia derived IPSC-neurons and cardiomyocytesMariana B Angulo, Alexander Bertalovitz, Mariana A Argenziano, et al.
Molecular Genetics & Genomic Medicine|September 12, 2021
Clinicoradiographic and genetic features of cerebral small vessel disease indicate variability in mode of inheritance for monoallelic HTRA1 variantsKarthik Muthusamy, Alejandro Ferrer, Eric W Klee, et al.
Molecular Genetics & Genomic Medicine|August 16, 2021
Compounded with hemoglobin Port Phillip and -α4.2 or --SEA deletions were identified in Chinese populationLi Du, Xiuqin Bao, Danqing Qin, et al.
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