SDHA related tumorigenesis: a new case series and literature review for variant interpretation and pathogenicity

The complete local genotype–phenotype landscape for the alternative splicing of a human exon

(2016) Philippe Julien et al.   Nature Communications

Exonic Splicing Mutations Are More Prevalent than Currently Estimated and Can Be Predicted by Using In Silico Tools

(2016) Omar Soukarieh et al.   PLoS Genetics

Molecular Subtypes ofKIT/PDGFRAWild-Type Gastrointestinal Stromal Tumors

(2016) Sosipatros A. Boikos et al.   JAMA Oncology

In silico functional dissection of saturation mutagenesis: Interpreting the relationship between phenotypes and changes in protein stability, interactions and activity

(2016) Douglas E. V. Pires et al.   Scientific Reports

A Novel SDHA-deficient Renal Cell Carcinoma Revealed by Comprehensive Genomic Profiling

(2015) Evgeny Yakirevich et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Structural and functional consequences of succinate dehydrogenase subunit B mutations

(2015) E. Kim et al.   ENDOCRINE-RELATED CANCER

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

Renal carcinoma associated with a novel succinate dehydrogenase A mutation: a case report and review of literature of a rare subtype of renal carcinoma

(2015) Yasemin Ozluk et al.   HUMAN PATHOLOGY

Succinate Dehydrogenase (SDH)-Deficient Pancreatic Neuroendocrine Tumor Expands the SDH-Related Tumor Spectrum

(2015) Nicolasine D. Niemeijer et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

SDHB/SDHA immunohistochemistry in pheochromocytomas and paragangliomas: a multicenter interobserver variation analysis using virtual microscopy: a Multinational Study of the European Network for the Study of Adrenal Tumors (ENS@T)

(2015) Thomas G Papathomas et al.   MODERN PATHOLOGY

Determinants of the Usage of Splice-Associatedcis-Motifs Predict the Distribution of Human Pathogenic SNPs

(2015) XianMing Wu et al.   MOLECULAR BIOLOGY AND EVOLUTION

Metabolome Profiling by HRMAS NMR Spectroscopy of Pheochromocytomas and Paragangliomas Detects SDH Deficiency: Clinical and Pathophysiological Implications

(2015) Alessio Imperiale et al.   NEOPLASIA

Succinate Dehydrogenase Deficiency Is Rare in Pituitary Adenomas

(2014) Anthony J. Gill et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

Toward an improved definition of the genetic and tumor spectrum associated with SDH germ-line mutations

(2014) Lucie Evenepoel et al.   GENETICS IN MEDICINE

Succinate dehydrogenase deficient gastrointestinal stromal tumors (GISTs) – A review

(2014) Markku Miettinen et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

Germ-line PHD1 and PHD2 mutations detected in patients with pheochromocytoma/paraganglioma-polycythemia

(2014) Chunzhang Yang et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Platinum: a database of experimentally measured effects of mutations on structurally defined protein–ligand complexes

(2014) Douglas E.V. Pires et al.   NUCLEIC ACIDS RESEARCH

DUET: a server for predicting effects of mutations on protein stability using an integrated computational approach

(2014) D. E. V. Pires et al.   NUCLEIC ACIDS RESEARCH

Immunohistochemical Loss of Succinate Dehydrogenase Subunit A (SDHA) in Gastrointestinal Stromal Tumors (GISTs) Signals SDHA Germline Mutation

(2013) Markku Miettinen et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

mCSM: predicting the effects of mutations in proteins using graph-based signatures

(2013) Douglas E. V. Pires et al.   BIOINFORMATICS

SDH Mutations Establish a Hypermethylator Phenotype in Paraganglioma

(2013) Eric Letouzé et al.   CANCER CELL

Analysis of all subunits, SDHA, SDHB, SDHC, SDHD, of the succinate dehydrogenase complex in KIT/PDGFRA wild-type GIST

(2013) Maria A Pantaleo et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Functional Analysis of a Large set of BRCA2 exon 7 Variants Highlights the Predictive Value of Hexamer Scores in Detecting Alterations of Exonic Splicing Regulatory Elements

(2013) Daniela Di Giacomo et al.   HUMAN MUTATION

A Comprehensive Next Generation Sequencing–Based Genetic Testing Strategy To Improve Diagnosis of Inherited Pheochromocytoma and Paraganglioma

(2013) Eleanor Rattenberry et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

FamilialSDHAMutation Associated With Pituitary Adenoma and Pheochromocytoma/Paraganglioma

(2013) Trisha Dwight et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

The evolution, impact and properties of exonic splice enhancers

(2013) Eva Cáceres et al.   GENOME BIOLOGY

Succinate dehydrogenase deficiency in pediatric and adult gastrointestinal stromal tumors

(2013) Martin G. Belinsky   Frontiers in Oncology

Loss of SDHA Expression Identifies SDHA Mutations in Succinate Dehydrogenase–deficient Gastrointestinal Stromal Tumors

(2012) Trisha Dwight et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

SDHA loss of function mutations in a subset of young adult wild-type gastrointestinal stromal tumors

(2012) Antoine Italiano et al.   BMC CANCER

MAX Mutations Cause Hereditary and Sporadic Pheochromocytoma and Paraganglioma

(2012) N. Burnichon et al.   CLINICAL CANCER RESEARCH

Evaluation of SDHB, SDHD and VHL gene susceptibility testing in the assessment of individuals with non-syndromic phaeochromocytoma, paraganglioma and head and neck paraganglioma

(2012) Mariam Jafri et al.   CLINICAL ENDOCRINOLOGY

Succinate dehydrogenase (SDHx) mutations in pituitary tumors: could this be a new role for mitochondrial complex II and/or Krebs cycle defects?

(2012) Paraskevi Xekouki et al.   ENDOCRINE-RELATED CANCER

Overexpression of insulin-like growth factor 1 receptor and frequent mutational inactivation ofSDHAin wild-type SDHB-negative gastrointestinal stromal tumors

(2012) Martin G. Belinsky et al.   GENES CHROMOSOMES & CANCER

Crystal structure of mitochondrial quinol-fumarate reductase from the parasitic nematode Ascaris suum

(2012) H. Shimizu et al.   JOURNAL OF BIOCHEMISTRY

A novel EPAS1/HIF2A germline mutation in a congenital polycythemia with paraganglioma

(2012) Felipe R. Lorenzo et al.   JOURNAL OF MOLECULAR MEDICINE-JMM

Loss of expression of SDHA predicts SDHA mutations in gastrointestinal stromal tumors

(2012) Andrew J Wagner et al.   MODERN PATHOLOGY

SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors

(2012) Lindsey Oudijk et al.   MODERN PATHOLOGY

A Distinct Pediatric-type Gastrointestinal Stromal Tumor in Adults

(2011) Maria A. Pantaleo et al.   AMERICAN JOURNAL OF SURGICAL PATHOLOGY

The NumPy Array: A Structure for Efficient Numerical Computation

(2011) Stéfan van der Walt et al.   COMPUTING IN SCIENCE & ENGINEERING

Quantitative evaluation of all hexamers as exonic splicing elements

(2011) Shengdong Ke et al.   GENOME RESEARCH

SDHA Immunohistochemistry Detects GermlineSDHAGene Mutations in Apparently Sporadic Paragangliomas and Pheochromocytomas

(2011) Esther Korpershoek et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

SDHA Loss-of-Function Mutations in KIT-PDGFRA Wild-Type Gastrointestinal Stromal Tumors Identified by Massively Parallel Sequencing

(2011) M. A. Pantaleo et al.   JNCI-Journal of the National Cancer Institute

SDHA is a tumor suppressor gene causing paraganglioma

(2010) Nelly Burnichon et al.   HUMAN MOLECULAR GENETICS

Research Resource: Transcriptional Profiling Reveals Different Pseudohypoxic Signatures in SDHB and VHL-Related Pheochromocytomas

(2010) Elena López-Jiménez et al.   MOLECULAR ENDOCRINOLOGY

Germline mutations in TMEM127 confer susceptibility to pheochromocytoma

(2010) Yuejuan Qin et al.   NATURE GENETICS

Genomic features defining exonic variants that modulate splicing

(2010) Adam Woolfe et al.   GENOME BIOLOGY

Tumor risks and genotype–phenotype–proteotype analysis in 358 patients with germline mutations inSDHBandSDHD

(2009) Christopher J. Ricketts et al.   HUMAN MUTATION

SDH5, a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma

(2009) H.-X. Hao et al.   SCIENCE