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Molecular Genetics & Genomic Medicine|November 23, 2019
Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformationAlice Traversa, Silvia Bernardo, Alessandro Paiardini, et al.
Molecular Genetics & Genomic Medicine|December 8, 2017
Human perforin gene variation is geographically distributedRobin C Willenbring, Yasuhiro Ikeda, Larry R Pease, et al.
Molecular Genetics & Genomic Medicine|November 28, 2017
Expanding the mutational spectrum in Johanson-Blizzard syndrome: identification of whole exon deletions and duplications in the UBR1 gene by multiplex ligation-dependent probe amplification analysisMaja Sukalo, Eva Schäflein, Ina Schanze, et al.
Molecular Genetics & Genomic Medicine|November 28, 2017
Medical genetics and genomic medicine in the United States. Part 2: Reproductive genetics, newborn screening, genetic counseling, training, and registriesDebra S Regier, Carlos R Ferreira, Suzanne Hart, et al.
Molecular Genetics & Genomic Medicine|November 28, 2017
Inherited SHQ1 mutations impair interaction with NAP57/dyskerin, a major target in dyskeratosis congenitaJonathan Bizarro, U Thomas Meier
Molecular Genetics & Genomic Medicine|November 28, 2017
Novel autosomal dominant TNNT1 mutation causing nemaline myopathyChamindra G Konersman, Fernande Freyermuth, Thomas L Winder, et al.
Molecular Genetics & Genomic Medicine|November 28, 2017
Comprehensive analysis of mutations in the MEFV gene reveal that the location and not the substitution type determines symptom severity in FMFMike M Moradian, Davit Babikyan, Dion Banoian, et al.
Molecular Genetics & Genomic Medicine|November 28, 2017
Compound heterozygous CASQ2 mutations and long-term course of catecholaminergic polymorphic ventricular tachycardiaKatherine Josephs, Kunjan Patel, Christopher M Janson, et al.
Molecular Genetics & Genomic Medicine|November 28, 2017
Sickle cell trait knowledge and health literacy in caregivers who receive in-person sickle cell trait educationSusan Creary, Ismahan Adan, Joseph Stanek, et al.
Molecular Genetics & Genomic Medicine|November 28, 2017
Unique genetic background and outcome of non-Caucasian Japanese probands with arrhythmogenic right ventricular dysplasia/cardiomyopathyYuko Wada, Seiko Ohno, Takeshi Aiba, et al.
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