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Dideoxy DNA sequencing

Inheritance patterns of ATCCT repeat interruptions in spinocerebellar ataxia type 10 (SCA10) expansions

Ivette Landrian, Karen N. McFarland, [ ... ], Tetsuo Ashizawa

Allelic Differences within and among Sister Spores of the Arbuscular Mycorrhizal Fungus Glomus etunicatum Suggest Segregation at Sporulation

Eva Boon, Erin Zimmerman, Marc St-Arnaud, Mohamed Hijri

Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24

Benjamin R. Lin, Derek J. Le, [ ... ], Anthony J. Aldave

Germline and somatic mutations in cortical malformations: Molecular defects in Argentinean patients with neuronal migration disorders

Dolores González-Morón, Sebastián Vishnopolska, [ ... ], Marcelo Andrés Kauffman

Targeted High-Throughput Sequencing Identifies Pathogenic Mutations in KCNQ4 in Two Large Chinese Families with Autosomal Dominant Hearing Loss

Hongyang Wang, Yali Zhao, [ ... ], Qiuju Wang

High-Throughput Sequencing Analysis of Post-Liver Transplantation HCV E2 Glycoprotein Evolution in the Presence and Absence of Neutralizing Monoclonal Antibody

Gregory J. Babcock, Sowmya Iyer, [ ... ], Zhiping Weng

PIK3CA mutations in breast cancer: A Tunisian series

Mariem Ben Rekaya, Farah Sassi, [ ... ], Soumaya Rammeh

Exome sequencing identifies novel variants associated with non-syndromic hearing loss in the Iranian population

Jalal Vallian Broojeni, Arezu Kazemi, Halimeh Rezaei, Sadeq Vallian

A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk

Madison R. Bishop, Anna L. W. Huskey, John Hetzel, Nancy D. Merner

Deep sequencing is an appropriate tool for the selection of unique Hepatitis C virus (HCV) variants after single genomic amplification

Thibault Guinoiseau, Alain Moreau, [ ... ], Catherine Gaudy-Graffin

Analytical Validation of AmpliChip p53 Research Test for Archival Human Ovarian FFPE Sections

Matthew J. Marton, Andrew R. McNamara, [ ... ], Jonathan Cheng

Novel Rare Missense Variations and Risk of Autism Spectrum Disorder: Whole-Exome Sequencing in Two Families with Affected Siblings and a Two-Stage Follow-Up Study in a Japanese Population

Jun Egawa, Yuichiro Watanabe, [ ... ], Toshiyuki Someya

Targeted sequencing identifies a novel SH2D1A pathogenic variant in a Chinese family: Carrier screening and prenatal genetic testing

Jun-Yu Zhang, Song-Chang Chen, [ ... ], Chen-Ming Xu

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