Alternative transcripts in variant interpretation: the potential for missed diagnoses and misdiagnoses

ClinGen expert clinical validity curation of 164 hearing loss gene–disease pairs

(2019) Marina T. DiStefano et al.   GENETICS IN MEDICINE

A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative

(2018) Vandana Shashi et al.   GENETICS IN MEDICINE

Curating Clinically Relevant Transcripts for the Interpretation of Sequence Variants

(2018) Marina T. DiStefano et al.   JOURNAL OF MOLECULAR DIAGNOSTICS

Pitfalls of clinical exome and gene panel testing: alternative transcripts

(2018) Dale L. Bodian et al.   GENETICS IN MEDICINE

Next-generation phenotyping using computer vision algorithms in rare genomic neurodevelopmental disorders

(2018) Roos van der Donk et al.   GENETICS IN MEDICINE

The Importance of Biologic Knowledge and Gene Expression Context for Genomic Data Interpretation

(2018) Michael T. Zimmermann   Frontiers in Genetics

De novo variants in the alternative exon 5 of SCN8A cause epileptic encephalopathy

(2017)   GENETICS IN MEDICINE

Alternative splicing as a regulator of development and tissue identity

(2017) Francisco E. Baralle et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Functional convergence of histone methyltransferases EHMT1 and KMT2C involved in intellectual disability and autism spectrum disorder

(2017) Tom S. Koemans et al.   PLoS Genetics

Characterisation of CDKL5 Transcript Isoforms in Human and Mouse

(2016) Ralph D. Hector et al.   PLoS One

Practical considerations in the clinical application of whole-exome sequencing

(2015) V. Shashi et al.   CLINICAL GENETICS

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE

The human transcriptome across tissues and individuals

(2015) M. Mele et al.   SCIENCE

The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans

(2015) et al.   SCIENCE

Choice of transcripts and software has a large effect on variant annotation

(2014) Davis J McCarthy et al.   Genome Medicine

Mutations in the C-terminus of CDKL5: proceed with caution

(2013) Bertrand Diebold et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

A framework for variation discovery and genotyping using next-generation DNA sequencing data

(2011) Mark A DePristo et al.   NATURE GENETICS

OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin

(2009) Karlien L.M. Coene et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Deep surveying of alternative splicing complexity in the human transcriptome by high-throughput sequencing

(2008) Qun Pan et al.   NATURE GENETICS