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Molecular Genetics & Genomic Medicine|July 22, 2021
Individual variability in human urinary metabolites identifies age-related, body mass index-related, and sex-related biomarkersTianling Wang, Lei Tang, Ruili Lin, et al.
Molecular Genetics & Genomic Medicine|December 4, 2020
Expanding the PURA syndrome phenotype: A child with the recurrent PURA p.(Phe233del) pathogenic variant showing similarities with cutis laxaValeria Cinquina, Claudia Ciaccio, Marina Venturini, et al.
Molecular Genetics & Genomic Medicine|December 21, 2020
Rare variant (p.Ser43Asn) of familial transthyretin amyloidosis associated with isolated cardiac phenotype: A case series with literature reviewMaria Papathanasiou, Alexander Carpinteiro, David Kersting, et al.
Molecular Genetics & Genomic Medicine|December 19, 2020
RB1CC1 duplication and aberrant overexpression in a patient with schizophrenia: further phenotype delineation and proposal of a pathogenetic mechanismEdoardo Errichiello, Roberto Giorda, Antonella Gambale, et al.
Molecular Genetics & Genomic Medicine|December 19, 2020
TH17/IL23 cytokine gene polymorphisms in bullous pemphigoidPardis-Sadat Tabatabaei-Panah, Hamideh Moravvej, Sahel Aghaei, et al.
Molecular Genetics & Genomic Medicine|September 17, 2013
A Novel ERAP2 Haplotype Structure in a Chilean Population: Implications for ERAP2 Protein Expression and Preeclampsia RiskDerek L Vanhille, Lori D Hill, Dashaunda D Hilliard, et al.
Molecular Genetics & Genomic Medicine|April 25, 2019
Identification of a complex genomic rearrangement in TMPRSS3 by massively parallel sequencing in Chinese cases with prelingual hearing lossXinlei Li, Bo Tan, Xiaoqian Wang, et al.
Molecular Genetics & Genomic Medicine|April 30, 2019
A rapid and accurate methylation-sensitive high-resolution melting analysis assay for the diagnosis of Prader Willi and Angelman patientsIgor Ribeiro Ferreira, Wilton Darleans Dos Santos Cunha, Leonardo Henrique Ferreira Gomes, et al.
Molecular Genetics & Genomic Medicine|April 21, 2019
Noninvasive prenatal testing for fetal subchromosomal copy number variations and chromosomal aneuploidy by low-pass whole-genome sequencingDongyi Yu, Kai Zhang, Meiyan Han, et al.
Molecular Genetics & Genomic Medicine|April 21, 2019
The frequency of CNVs in a cohort population of consecutive fetuses with congenital anomalies after the termination of pregnancyGorazd Rudolf, Luca Lovrečić, Nataša Tul, et al.
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