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Publications by Cynthia Tifft

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial M-Aaa Proteases

Molecular Biology

Cancer Research

English

Oculofaciocardiodental and Lenz Microphthalmia Syndromes Result From Distinct Classes of Mutations in BCOR

Nature Genetics

English

Related publications

Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy

American Journal of Human Genetics

English

Whole-Exome Sequencing Identifies Somatic ATRX Mutations in Pheochromocytomas and Paragangliomas

Nature Communications

Molecular Biology

English

Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome

American Journal of Human Genetics

English

Family-Based Whole-Exome Sequencing Identifies Novel Loss-Of-Function Mutations of FBN1 for Marfan Syndrome

Molecular Biology

Biological Sciences

English

M-Aaa Proteases, Mitochondrial Calcium Homeostasis and Neurodegeneration

Molecular Biology

English

Whole-Exome Sequencing Identifies Mutations in GPR179 Leading to Autosomal-Recessive Complete Congenital Stationary Night Blindness

American Journal of Human Genetics

English

Exome Sequencing Identifies Recurrent Somatic RAC1 Mutations in Melanoma

Nature Genetics

English

Whole Exome Sequencing Identifies a Novel and a Recurrent Mutation inBBS2Gene in a Family With Bardet-Biedl Syndrome

BioMed Research International

Molecular Biology

English

Exome Sequencing Identified New Mutations in a Marfan Syndrome Family

Diagnostic Pathology

Forensic Medicine

English