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Mutation databases

ProKinO: An Ontology for Integrative Analysis of Protein Kinases in Cancer

Gurinder Gosal, Krys J. Kochut, Natarajan Kannan

CLCN1 Mutations in Czech Patients with Myotonia Congenita, In Silico Analysis of Novel and Known Mutations in the Human Dimeric Skeletal Muscle Chloride Channel

Daniela Skálová, Jana Zídková, [ ... ], Lenka Fajkusová

Molecular Diagnosis of Usher Syndrome: Application of Two Different Next Generation Sequencing-Based Procedures

Danilo Licastro, Margherita Mutarelli, [ ... ], Vincenzo Nigro

A Multiparametric Computational Algorithm for Comprehensive Assessment of Genetic Mutations in Mucopolysaccharidosis Type IIIA (Sanfilippo Syndrome)

Krastyu G. Ugrinov, Stefan D. Freed, Clayton L. Thomas, Shaun W. Lee

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

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

Nano-LC-MS/MS for Quantification of Lyso-Gb3 and Its Analogues Reveals a Useful Biomarker for Fabry Disease

Hideaki Sueoka, Junji Ichihara, [ ... ], Hitoshi Sakuraba

Deep Whole-Genome Sequencing to Detect Mixed Infection of Mycobacterium tuberculosis

Mingyu Gan, Qingyun Liu, [ ... ], Tao Luo

Identification of Functional Mutations in GATA4 in Patients with Congenital Heart Disease

Erli Wang, Shuna Sun, [ ... ], Hongyan Wang

Genotyping of Fanconi Anemia Patients by Whole Exome Sequencing: Advantages and Challenges

Kerstin Knies, Beatrice Schuster, [ ... ], Detlev Schindler

Determining the role of missense mutations in the POU domain of HNF1A that reduce the DNA-binding affinity: A computational approach

Sneha P., Thirumal Kumar D., [ ... ], Hatem Zayed

Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss

Tahir Atik, Huseyin Onay, [ ... ], Ferda Ozkinay

Prevalence and extent of heteroresistance by next generation sequencing of multidrug-resistant tuberculosis

Darwin J. Operario, Alexander F. Koeppel, [ ... ], Eric R. Houpt

Mutation spectrum of the OPA1 gene in a large cohort of patients with suspected dominant optic atrophy: Identification and classification of 48 novel variants

Nicole Weisschuh, Simone Schimpf-Linzenbold, [ ... ], Bernd Wissinger

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