VarElect: the phenotype-based variation prioritizer of the GeneCards Suite

Expanding theMYBPC1phenotypic spectrum: a novel homozygous mutation causes arthrogryposis multiplex congenita

(2016) N. Ekhilevitch et al.   CLINICAL GENETICS

Better prediction of functional effects for sequence variants

(2015) Maximilian Hecht et al.   BMC GENOMICS

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

(2015) Xiaolin Zhu et al.   GENETICS IN MEDICINE

Whole‐genome sequencing identifies EN1 as a determinant of bone density and fracture

(2015) Hou‐Feng Zheng et al.   NATURE

Phenolyzer: phenotype-based prioritization of candidate genes for human diseases

(2015) Hui Yang et al.   NATURE METHODS

PathCards: multi-source consolidation of human biological pathways

(2015) Frida Belinky et al.   Database-The Journal of Biological Databases and Curation

Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders

(2015) Ignatia B. Van den Veyver et al.   Cold Spring Harbor Perspectives in Medicine

Phevor Combines Multiple Biomedical Ontologies for Accurate Identification of Disease-Causing Alleles in Single Individuals and Small Nuclear Families

(2014) Marc V. Singleton et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Exome sequencing as a differential diagnosis tool: resolving mild trichohepatoenteric syndrome

(2014) D. Oz-Levi et al.   CLINICAL GENETICS

Genome sequencing identifies major causes of severe intellectual disability

(2014) Christian Gilissen et al.   NATURE

COSMIC: exploring the world's knowledge of somatic mutations in human cancer

(2014) Simon A. Forbes et al.   NUCLEIC ACIDS RESEARCH

VAAST 2.0: Improved Variant Classification and Disease-Gene Identification Using a Conservation-Controlled Amino Acid Substitution Matrix

(2013) Hao Hu et al.   GENETIC EPIDEMIOLOGY

Improved exome prioritization of disease genes through cross-species phenotype comparison

(2013) P. N. Robinson et al.   GENOME RESEARCH

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

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

ClinVar: public archive of relationships among sequence variation and human phenotype

(2013) Melissa J. Landrum et al.   NUCLEIC ACIDS RESEARCH

LifeMap Discovery™: The Embryonic Development, Stem Cells, and Regenerative Medicine Research Portal

(2013) Ron Edgar et al.   PLoS One

MalaCards: an integrated compendium for diseases and their annotation

(2013) Noa Rappaport et al.   Database-The Journal of Biological Databases and Curation

The Centers for Mendelian Genomics: A new large-scale initiative to identify the genes underlying rare Mendelian conditions

(2012) Michael J. Bamshad et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Population-based rare variant detection via pooled exome or custom hybridization capture with or without individual indexing

(2012) Enrique Ramos et al.   BMC GENOMICS

SIFT web server: predicting effects of amino acid substitutions on proteins

(2012) Ngak-Leng Sim et al.   NUCLEIC ACIDS RESEARCH

A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes

(2012) D. G. MacArthur et al.   SCIENCE

Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes

(2011) Katherine R Smith et al.   GENOME BIOLOGY

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Neurologic Involvement in a Child With Systemic Capillary Leak Syndrome

(2010) R. Sion-Sarid et al.   PEDIATRICS

GeneCards Version 3: the human gene integrator

(2010) M. Safran et al.   Database-The Journal of Biological Databases and Curation

GeneDecks: Paralog Hunting and Gene-Set Distillation with GeneCards Annotation

(2009) Gil Stelzer et al.   OMICS-A JOURNAL OF INTEGRATIVE BIOLOGY

Maternally inherited Leigh syndrome: an unusual cause of infantile apnea

(2009) Christy Shuk-kuen Chau et al.   Sleep and Breathing