A tailored approach to fusion transcript identification increases diagnosis of rare inherited disease

RNA-Seq detects a SAMD12-EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas

(2019) Gavin R. Oliver et al.   Molecular Genetics & Genomic Medicine

Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts

(2019) Laure Frésard et al.   NATURE MEDICINE

Fusion genes: A promising tool combating against cancer

(2018) Xiaofeng Dai et al.   BIOCHIMICA ET BIOPHYSICA ACTA-REVIEWS ON CANCER

Utility of DNA, RNA, Protein, and Functional Approaches to Solve Cryptic Immunodeficiencies

(2018) Margot A. Cousin et al.   JOURNAL OF CLINICAL IMMUNOLOGY

“Transcriptomics”: molecular diagnosis of inborn errors of metabolism via RNA-sequencing

(2018) Laura S. Kremer et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Characterization of three ciliopathy pedigrees expands the phenotype associated with biallelic C2CD3 variants

(2018) Nicole J. Boczek et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

It Is Imperative to Establish a Pellucid Definition of Chimeric RNA and to Clear Up a Lot of Confusion in the Relevant Research

(2017) Chengfu Yuan et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Ensembl 2018

(2017) Daniel R Zerbino et al.   NUCLEIC ACIDS RESEARCH

The Reactome Pathway Knowledgebase

(2017) Antonio Fabregat et al.   NUCLEIC ACIDS RESEARCH

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing

(2017) Beryl B. Cummings et al.   Science Translational Medicine

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability

(2017) Sonia Mayo et al.   International Journal of Genomics

PCAN: phenotype consensus analysis to support disease-gene association

(2016) Patrice Godard et al.   BMC BIOINFORMATICS

Translating RNA sequencing into clinical diagnostics: opportunities and challenges

(2016) Sara A. Byron et al.   NATURE REVIEWS GENETICS

Recurrent chimeric fusion RNAs in non-cancer tissues and cells

(2016) Mihaela Babiceanu et al.   NUCLEIC ACIDS RESEARCH

The STRING database in 2017: quality-controlled protein–protein association networks, made broadly accessible

(2016) Damian Szklarczyk et al.   NUCLEIC ACIDS RESEARCH

X-linked intellectual disability related genes disrupted by balanced X-autosome translocations

(2015) Mariana Moysés-Oliveira et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS

A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project

(2015) Latarsha J. Carithers et al.   BIOPRESERVATION AND BIOBANKING

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care

(2015) S.L. Sawyer et al.   CLINICAL GENETICS

Molecular diagnostic experience of whole-exome sequencing in adult patients

(2015) Jennifer E. Posey et al.   GENETICS IN MEDICINE

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

ClinVar: public archive of interpretations of clinically relevant variants

(2015) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

A t(3;9)(q25.1;q34.3) translocation leading to OLFM1 fusion transcripts in Gilles de la Tourette syndrome, OCD and ADHD

(2015) Birgitte Bertelsen et al.   PSYCHIATRY RESEARCH

A Novel Approach to High-Quality Postmortem Tissue Procurement: The GTEx Project

(2015) Latarsha J. Carithers et al.   Biopreservation and Biobanking

Hypothesis: Artifacts, Including Spurious Chimeric RNAs with a Short Homologous Sequence, Caused by Consecutive Reverse Transcriptions and Endogenous Random Primers

(2015) Zhiyu Peng et al.   Journal of Cancer

The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles

(2014) Philip M. Boone et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Deletion InvolvingCD38andBST1Results in a Fusion Transcript in a Patient With Autism and Asthma

(2014) Fabiola Ceroni et al.   Autism Research

Genomic and Functional Overlap between Somatic and Germline Chromosomal Rearrangements

(2014) Sebastiaan van Heesch et al.   Cell Reports

Formation of Chimeric Genes by Copy-Number Variation as a Mutational Mechanism in Schizophrenia

(2013) Caitlin Rippey et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A common 56-kilobase deletion in a primate-specific segmental duplication creates a novel butyrophilin-like protein

(2013) Johanna Aigner et al.   BMC GENETICS

Ade novoX;8 translocation creates aPTK2-THOC2gene fusion withTHOC2expression knockdown in a patient with psychomotor retardation and congenital cerebellar hypoplasia

(2013) Eleonora Di Gregorio et al.   JOURNAL OF MEDICAL GENETICS

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

(2013) Yaping Yang et al.   NEW ENGLAND JOURNAL OF MEDICINE

A Chimeric RNA Characteristic of Rhabdomyosarcoma in Normal Myogenesis Process

(2013) H. Yuan et al.   Cancer Discovery

Partial deletion of GLRB and GRIA2 in a patient with intellectual disability

(2012) Karl Hackmann et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Structural haplotypes and recent evolution of the human 17q21.31 region

(2012) Linda M Boettger et al.   NATURE GENETICS

Tiling resolution array-CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients

(2010) Károly Szuhai et al.   HUMAN MUTATION

Insoluble DISC1–Boymaw fusion proteins

(2010) X Zhou et al.   MOLECULAR PSYCHIATRY

Multiple osteochondromas: mutation update and description of the multiple osteochondromas mutation database (MOdb)

(2009) Ivy Jennes et al.   HUMAN MUTATION

Cytogenetic and molecular characterization of a de-novo t(2p;7p) translocation involving TNS3 and EXOC6B genes in a boy with a complex syndromic phenotype

(2008) Giuseppe Borsani et al.   European Journal of Medical Genetics