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Mutation detection

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

A Novel Missense Mutation 224G>T (R75M) in SRY Coding Region Interferes with Nuclear Import and Results in 46, XY Complete Gonadal Dysgenesis

Wufang Fan, Bei Wang, [ ... ], Lin Li

Novel Candidate Genes and a Wide Spectrum of Structural and Point Mutations Responsible for Inherited Retinal Dystrophies Revealed by Exome Sequencing

Marta de Castro-Miró, Raul Tonda, [ ... ], Roser Gonzàlez-Duarte

Detectable Viral Load in Late Pregnancy among Women in the Rwanda Option B+ PMTCT Program: Enrollment Results from the Kabeho Study

Michelle M. Gill, Heather J. Hoffman, [ ... ], Anita Asiimwe

A Novel HRAS Mutation Independently Contributes to Left Ventricular Hypertrophy in a Family with a Known MYH7 Mutation

Maria Elena Sana, Lawrence A. Quilliam, [ ... ], Maria Iascone

Intragenic Deletions in ATP7B as an Unusual Molecular Genetics Mechanism of Wilson’s Disease Pathogenesis

Theodor Todorov, Prahlad Balakrishnan, [ ... ], Hartmut H. J. Schmidt

Tertiary Epimutations – A Novel Aspect of Epigenetic Transgenerational Inheritance Promoting Genome Instability

John R. McCarrey, Jake D. Lehle, [ ... ], Michael K. Skinner

Analysis of Sequence Variation and Risk Association of Human Papillomavirus 52 Variants Circulating in Korea

Youn Jin Choi, Eun Young Ki, [ ... ], Jong Sup Park

The Effects of Ca²⁺ Concentration and E200K Mutation on the Aggregation Propensity of PrP^C: A Computational Study

Alessandro Marrone, Nazzareno Re, Loriano Storchi

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss

Agnieszka Pollak, Urszula Lechowicz, [ ... ], Rafał Płoski

Multimodal Imaging of Photoreceptor Structure in Choroideremia

Lynn W. Sun, Ryan D. Johnson, [ ... ], Joseph Carroll

Development of RNA-FISH Assay for Detection of Oncogenic FGFR3-TACC3 Fusion Genes in FFPE Samples

Masahiro Kurobe, Takahiro Kojima, [ ... ], Hiroyuki Nishiyama

Comprehensive Genetic Analysis of Japanese Autosomal Dominant Sensorineural Hearing Loss Patients

Yoh-ichiro Iwasa, Shin-ya Nishio, Shin-ichi Usami

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