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Molecular Genetics & Genomic Medicine|June 5, 2020
Dental malformations associated with biallelic MMP20 mutationsShih-Kai Wang, Hong Zhang, Michael B Chavez, et al.
Molecular Genetics & Genomic Medicine|June 6, 2020
Germline whole genome sequencing in pediatric oncology in Denmark-Practitioner perspectivesAnna Byrjalsen, Ulrik K Stoltze, Anders Castor, et al.
Molecular Genetics & Genomic Medicine|June 25, 2020
Different prevalence of T2DM risk alleles in Roma population in comparison with the majority Czech populationJaroslav A Hubáček, Lenka Šedová, Věra Olišarová, et al.
Molecular Genetics & Genomic Medicine|May 23, 2020
Clinical and genetic analysis of lipoprotein glomerulopathy patients caused by APOE mutationsMingxin Yang, Qinjie Weng, Xiaoxia Pan, et al.
Molecular Genetics & Genomic Medicine|May 23, 2020
Novel homozygous CLN3 missense variant in isolated retinal dystrophy: A case report and electron microscopic findingsKei Mizobuchi, Takaaki Hayashi, Kazutoshi Yoshitake, et al.
Molecular Genetics & Genomic Medicine|August 9, 2021
Neurocognitive follow-up in adult siblings with Phelan-McDermid syndrome due to a novel SHANK3 splicing site mutationMinna Kankuri-Tammilehto, Oili Sauna-Aho, Maria Arvio
Molecular Genetics & Genomic Medicine|August 12, 2021
A rare PALB2 germline variant causing G2/M cell cycle arrest is associated with isolated myelosarcoma in infancyAngelina Beer, Ricardo Beck, Anne Schedel, et al.
Molecular Genetics & Genomic Medicine|September 9, 2021
Two novel presentations of KCNMA1-related pathology--Expanding the clinical phenotype of a rare channelopathyJotte Rodrigues Bento, Candice Feben, Marlies Kempers, et al.
Molecular Genetics & Genomic Medicine|May 13, 2020
Genetic analysis resolves differential diagnosis of a familial syndromic dilated cardiomyopathy: A new case of Alström syndromeBarbara Lombardo, Valeria D'Argenio, Emanuele Monda, et al.
Molecular Genetics & Genomic Medicine|February 14, 2023
The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathiesAnna Grether, Ivan Ivanovski, Martina Russo, et al.
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