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Frameshift mutation

X-Linked Adrenoleukodystrophy: Molecular and Functional Analysis of the ABCD1 Gene in Argentinean Patients

Cyntia Anabel Amorosi, Helena Myskóva, [ ... ], Ana María Oller de Ramírez

Mutations in Splicing Factor Genes Are a Major Cause of Autosomal Dominant Retinitis Pigmentosa in Belgian Families

Caroline Van Cauwenbergh, Frauke Coppieters, [ ... ], Elfride De Baere

Whole-Genome Sequencing of Individuals from a Founder Population Identifies Candidate Genes for Asthma

Catarina D. Campbell, Kiana Mohajeri, [ ... ], Evan E. Eichler

TBX1 Mutation Identified by Exome Sequencing in a Japanese Family with 22q11.2 Deletion Syndrome-Like Craniofacial Features and Hypocalcemia

Tsutomu Ogata, Tetsuya Niihori, [ ... ], Yoichi Matsubara

Exome Sequencing in 53 Sporadic Cases of Schizophrenia Identifies 18 Putative Candidate Genes

Michel Guipponi, Federico A. Santoni, [ ... ], Stylianos E. Antonarakis

A Mild Form of SLC29A3 Disorder: A Frameshift Deletion Leads to the Paradoxical Translation of an Otherwise Noncoding mRNA Splice Variant

Alexandre Bolze, Avinash Abhyankar, [ ... ], Jean-Laurent Casanova

Genomic Profiling Identifies Novel Mutations and SNPs in ABCD1 Gene: A Molecular, Biochemical and Clinical Analysis of X-ALD Cases in India

Neeraj Kumar, Krishna Kant Taneja, [ ... ], Surendra Kumar Bansal

Clinical molecular testing for ASXL1 c.1934dupG p.Gly646fs mutation in hematologic neoplasms in the NGS era

Santiago Montes-Moreno, Mark J. Routbort, [ ... ], Keyur P. Patel

New NR5A1 mutations and phenotypic variations of gonadal dysgenesis

Ralf Werner, Isabel Mönig, [ ... ], Olaf Hiort

E-Cadherin Destabilization Accounts for the Pathogenicity of Missense Mutations in Hereditary Diffuse Gastric Cancer

Joana Simões-Correia, Joana Figueiredo, [ ... ], Raquel Seruca

A Newly Described Bovine Type 2 Scurs Syndrome Segregates with a Frame-Shift Mutation in TWIST1

Aurélien Capitan, Cécile Grohs, [ ... ], André Eggen

Novel and Recurrent MYO7A Mutations in Usher Syndrome Type 1 and Type 2

Weining Rong, Xue Chen, [ ... ], Chen Zhao

CHD7 Mutational Analysis and Clinical Considerations for Auditory Rehabilitation in Deaf Patients with CHARGE Syndrome

Mee Hyun Song, Hyun-Ju Cho, [ ... ], Un-Kyung Kim

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