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Frameshift mutation

Exome Sequencing Identifies a Mutation in EYA4 as a Novel Cause of Autosomal Dominant Non-Syndromic Hearing Loss

Fei Liu, Jiongjiong Hu, [ ... ], Zhaoxin Ma

Atypical Role for PhoU in Mutagenic Break Repair under Stress in Escherichia coli

Janet L. Gibson, Mary-Jane Lombardo, [ ... ], Susan M. Rosenberg

Analysis of Mutations in 7 Genes Associated with Neuronal Excitability and Synaptic Transmission in a Cohort of Children with Non-Syndromic Infantile Epileptic Encephalopathy

Anna Ka-Yee Kwong, Alvin Chi-Chung Ho, Cheuk-Wing Fung, Virginia Chun-Nei Wong

Dissecting Genomic Aberrations in Myeloproliferative Neoplasms by Multiplex-PCR and Next Generation Sequencing

Martin M. J. Kirschner, Mirle Schemionek, [ ... ], Steffen Koschmieder

Gene Editing by Co-Transformation of TALEN and Chimeric RNA/DNA Oligonucleotides on the Rice OsEPSPS Gene and the Inheritance of Mutations

Mugui Wang, Yujun Liu, [ ... ], Jumin Tu

A Family with Atypical Hailey Hailey Disease- Is There More to the Underlying Genetics than ATP2C1?

Nina van Beek, Aikaterini Patsatsi, [ ... ], Saleh Ibrahim

Antithrombin III Deficiency in Indian Patients with Deep Vein Thrombosis: Identification of First India Based AT Variants Including a Novel Point Mutation (T280A) that Leads to Aggregation

Teena Bhakuni, Amit Sharma, [ ... ], Mohamad Aman Jairajpuri

Whole Exome Sequencing Identifies Mutations in Usher Syndrome Genes in Profoundly Deaf Tunisian Patients

Zied Riahi, Crystel Bonnet, [ ... ], Christine Petit

Canine Disorder Mirrors Human Disease: Exonic Deletion in HES7 Causes Autosomal Recessive Spondylocostal Dysostosis in Miniature Schnauzer Dogs

Cali E. Willet, Mariano Makara, [ ... ], Claire M. Wade

Whole Genome Sequencing Reveals a De Novo SHANK3 Mutation in Familial Autism Spectrum Disorder

Sergio I. Nemirovsky, Marta Córdoba, [ ... ], Marcelo A. Kauffman

Differential Requirement for irf8 in Formation of Embryonic and Adult Macrophages in Zebrafish

Celia E. Shiau, Zoe Kaufman, Ana M. Meireles, William S. Talbot

Whole Genome Sequence Analysis Suggests Intratumoral Heterogeneity in Dissemination of Breast Cancer to Lymph Nodes

Kevin Blighe, Laura Kenny, [ ... ], Jacqueline A. Shaw

Frequency of COL4A3/COL4A4 Mutations amongst Families Segregating Glomerular Microscopic Hematuria and Evidence for Activation of the Unfolded Protein Response. Focal and Segmental Glomerulosclerosis Is a Frequent Development during Ageing

Louiza Papazachariou, Panayiota Demosthenous, [ ... ], Constantinos Deltas

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