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Whole genome analysis of an extended pedigree with Prader–Willi Syndrome, hereditary hemochromatosis, and dysautonomia-like symptoms

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Congenital Insensitivity to Pain with Anhydrosis
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Clinical Exome Sequencing for Genetic Identification of Rare Mendelian Disorders
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Clinical Interpretation and Implications of Whole-Genome Sequencing
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Universal Newborn Hearing Screening
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Genetic Testing in an Ethnically Diverse Cohort of High-Risk Women
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Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: Genetic heterogeneity, novel mutations in theTRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies
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Angelman and Prader‐Willi syndromes share a common chromosome 15 deletion but differ in parental origin of the deletion
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Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): Mutations and polymorphisms inTRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor
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Gene conversion cetween functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl
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Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13
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Whole Genome Sequencing Reveals a Chromosome 9p Deletion Causing DOCK8 Deficiency in an Adult Diagnosed with Hyper IgE Syndrome Who Developed Progressive Multifocal Leukoencephalopathy
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Uniparental paternal disomy in Angelman's syndrome
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The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease
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Clinical Diagnostics in Human Genetics with Semantic Similarity Searches in Ontologies
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Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency
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Using ERDS to Infer Copy-Number Variants in High-Coverage Genomes
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Practical, ethical and regulatory considerations for the evolving medical and research genomics landscape
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The Next-Generation Sequencing Revolution and Its Impact on Genomics
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Long Noncoding RNAs with snoRNA Ends
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Genetics, statistics and human disease: analytical retooling for complexity
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BACH1, a Novel Helicase-like Protein, Interacts Directly with BRCA1 and Contributes to Its DNA Repair Function
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Presymptomatic DNA testing and prophylactic surgery in families with a BRCA1 or BRCA2 mutation
inferredcites →https://doi.org/10.1016/s0140-6736(02)07447-0openalex-snapshot
Penetrance of 845G→A (C282Y) HFE hereditary haemochromatosis mutation in the USA
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Genetic epidemiology and public health: hope, hype, and future prospects
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Huntington's disease
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Characterization of single-nucleotide polymorphisms in coding regions of human genes
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Bring clinical standards to human-genetics research
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Mutation of a gene encoding a putative chaperonin causes McKusick-Kaufman syndrome
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Clinical Pharmacogenetics Implementation Consortium Guidelines for CYP2C9 and VKORC1 Genotypes and Warfarin Dosing
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The Clinical Pharmacogenomics Implementation Consortium: CPIC Guideline for SLCO1B1 and Simvastatin-Induced Myopathy
inferredcites →https://doi.org/10.1038/ejhg.2008.165openalex-snapshot
Prader–Willi syndrome
inferredcites →https://doi.org/10.1038/ejhg.2013.89openalex-snapshot
Secondary variants – in defense of a more fitting term in the incidental findings debate
inferredcites →https://doi.org/10.1038/ejhg.2014.103openalex-snapshot
Highly restricted deletion of the SNORD116 region is implicated in Prader–Willi Syndrome
inferredcites →https://doi.org/10.1038/gim.0b013e31822bead0openalex-snapshot
Prader-Willi syndrome
inferredcites →https://doi.org/10.1038/nature05610openalex-snapshot
Patterns of somatic mutation in human cancer genomes
inferredcites →https://doi.org/10.1038/nature12678openalex-snapshot
Genetic incompatibilities are widespread within species
inferredcites →https://doi.org/10.1038/nbt.2895openalex-snapshot
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data
inferredcites →https://doi.org/10.1038/ng.2776openalex-snapshot
Truncating mutations of MAGEL2 cause Prader-Willi phenotypes and autism
inferredcites →https://doi.org/10.1038/ng.2892openalex-snapshot
A general framework for estimating the relative pathogenicity of human genetic variants
inferredcites →https://doi.org/10.1038/ng.2968openalex-snapshot
The noncoding RNA IPW regulates the imprinted DLK1-DIO3 locus in an induced pluripotent stem cell model of Prader-Willi syndrome
inferredcites →https://doi.org/10.1038/ng.806openalex-snapshot
A framework for variation discovery and genotyping using next-generation DNA sequencing data
inferredcites →https://doi.org/10.1038/ng0896-485openalex-snapshot
Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis
inferredcites →https://doi.org/10.1038/nmeth.3069openalex-snapshot
Accurate de novo and transmitted indel detection in exome-capture data using microassembly
inferredcites →https://doi.org/10.1038/nrg2164openalex-snapshot
Splicing in disease: disruption of the splicing code and the decoding machinery
inferredcites →https://doi.org/10.1038/nrg2612openalex-snapshot
The genetics of quantitative traits: challenges and prospects
inferredcites →https://doi.org/10.1038/nrg3031openalex-snapshot
Exome sequencing as a tool for Mendelian disease gene discovery
inferredcites →https://doi.org/10.1038/nrg3074openalex-snapshot
Non-coding RNAs in human disease
inferredcites →https://doi.org/10.1038/nrg3373openalex-snapshot
Phenotypic impact of genomic structural variation: insights from and for human disease
inferredcites →https://doi.org/10.1038/nrg3555openalex-snapshot
Rare-disease genetics in the era of next-generation sequencing: discovery to translation
inferredcites →https://doi.org/10.1056/nejmoa073286openalex-snapshot
Iron-Overload–Related Disease inHFEHereditary Hemochromatosis
inferredcites →https://doi.org/10.1056/nejmoa0809329openalex-snapshot
Estimation of the Warfarin Dose with Clinical and Pharmacogenetic Data
inferredcites →https://doi.org/10.1056/nejmra031573openalex-snapshot
Hereditary Hemochromatosis — A New Look at an Old Disease
inferredcites →https://doi.org/10.1056/nejmra050700openalex-snapshot
Newborn Hearing Screening — A Silent Revolution
inferredcites →https://doi.org/10.1073/pnas.1119675109openalex-snapshot
The mystery of missing heritability: Genetic interactions create phantom heritability
inferredcites →https://doi.org/10.1086/318810openalex-snapshot
Tissue-Specific Expression of a Splicing Mutation in the Gene Causes Familial Dysautonomia
inferredcites →https://doi.org/10.1093/aje/154.3.193openalex-snapshot
HFE Gene and Hereditary Hemochromatosis: A HuGE Review
inferredcites →https://doi.org/10.1093/bioinformatics/btp352openalex-snapshot
The Sequence Alignment/Map format and SAMtools
inferredcites →https://doi.org/10.1093/bioinformatics/btq033openalex-snapshot
BEDTools: a flexible suite of utilities for comparing genomic features
inferredcites →https://doi.org/10.1093/bioinformatics/btq559openalex-snapshot
Robust relationship inference in genome-wide association studies
inferredcites →https://doi.org/10.1093/bioinformatics/bts503openalex-snapshot
Qualimap: evaluating next-generation sequencing alignment data
inferredcites →https://doi.org/10.1093/bioinformatics/btu393openalex-snapshot
circlize implements and enhances circular visualization in R
inferredcites →https://doi.org/10.1093/hmg/10.3.179openalex-snapshot
Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor
inferredcites →https://doi.org/10.1093/hmg/ddg131openalex-snapshot
New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12
inferredcites →https://doi.org/10.1093/nar/30.1.163openalex-snapshot
PharmGKB: the Pharmacogenetics Knowledge Base
inferredcites →https://doi.org/10.1093/nar/gkq603openalex-snapshot
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
inferredcites →https://doi.org/10.1093/nar/gks981openalex-snapshot
Accurate human microsatellite genotypes from high-throughput resequencing data using informed error profiles
inferredcites →https://doi.org/10.1093/nar/gkt1026openalex-snapshot
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
inferredcites →https://doi.org/10.1097/01.gim.0000182468.22666.ddopenalex-snapshot
Fragile X syndrome: Diagnostic and carrier testing
inferredcites →https://doi.org/10.1097/gim.0b013e3182368a0eopenalex-snapshot
DNA sequencing of maternal plasma to detect Down syndrome: An international clinical validation study
inferredcites →https://doi.org/10.1101/000687openalex-snapshot
Human genetics and clinical aspects of neurodevelopmental disorders
inferredcites →https://doi.org/10.1101/006148openalex-snapshot
Reducing INDEL calling errors in whole-genome and exome sequencing data
inferredcites →https://doi.org/10.1101/gad.1048803openalex-snapshot
Pre-mRNA splicing and human disease
inferredcites →https://doi.org/10.1101/gr.107524.110openalex-snapshot
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
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CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing
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PennCNV: An integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data
inferredcites →https://doi.org/10.1111/j.1399-0004.2010.01436.xopenalex-snapshot
The Human Phenotype Ontology
inferredcites →https://doi.org/10.1126/science.1215040openalex-snapshot
A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
inferredcites →https://doi.org/10.1126/science.1235294openalex-snapshot
Emergence of Individuality in Genetically Identical Mice
inferredcites →https://doi.org/10.1126/science.1249484openalex-snapshot
Detection of a Recurrent DNAJB1-PRKACA Chimeric Transcript in Fibrolamellar Hepatocellular Carcinoma
inferredcites →https://doi.org/10.1126/scitranslmed.3009262openalex-snapshot
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome
inferredcites →https://doi.org/10.1136/bmj.322.7293.1052openalex-snapshot
The complexities of predictive genetic testing
inferredcites →https://doi.org/10.1136/jmedgenet-2014-102633openalex-snapshot
Clinical interpretation of CNVs with cross-species phenotype data
inferredcites →https://doi.org/10.1146/annurev.genom.2.1.153openalex-snapshot
Genome Organization, Function, and Imprinting in Prader-Willi and Angelman Syndromes
inferredcites →https://doi.org/10.1158/0008-5472.can-04-1910openalex-snapshot
Aberrant and Alternative Splicing in Cancer
inferredcites →https://doi.org/10.1161/circgenetics.111.960872openalex-snapshot
Genetic Modifiers Predisposing to Congenital Heart Disease in the Sensitized Down Syndrome Population
inferredcites →https://doi.org/10.1186/gb-2014-15-6-r84openalex-snapshot
LUMPY: a probabilistic framework for structural variant discovery
inferredcites →https://doi.org/10.1186/gm359openalex-snapshot
Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress
inferredcites →https://doi.org/10.1186/gm432openalex-snapshot
Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing
inferredcites →https://doi.org/10.1186/gm471openalex-snapshot
Whole-genome DNA/RNA sequencing identifies truncating mutations in RBCK1 in a novel Mendelian disease with neuromuscular and cardiac involvement
inferredcites →https://doi.org/10.1186/s13073-014-0089-zopenalex-snapshot
Reducing INDEL calling errors in whole genome and exome sequencing data
inferredcites →https://doi.org/10.1210/jc.84.8.2784openalex-snapshot
Mutation Analysis Reveals Novel Sequence Variants in NTRK1 in Sporadic Human Medullary Thyroid Carcinoma
inferredcites →https://doi.org/10.1210/jcem.84.8.5901openalex-snapshot
Mutation Analysis Reveals Novel Sequence Variants inNTRK1in Sporadic Human Medullary Thyroid Carcinoma1
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GEMINI: Integrative Exploration of Genetic Variation and Genome Annotations
inferredcites →https://doi.org/10.1371/journal.pgen.1002644openalex-snapshot
Modifier Genes and the Plasticity of Genetic Networks in Mice
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Genomic Variation and Its Impact on Gene Expression in Drosophila melanogaster
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Revealing the Complexity of a Monogenic Disease: Rett Syndrome Exome Sequencing
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There is Nothing ‘Incidental’ about Unrelated Findings
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Role of Hemochromatosis C282Y and H63D Mutations in HFE Gene in Development of Type 2 Diabetes and Diabetic Nephropathy
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Haplotype-based variant detection from short-read sequencing
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Aligning sequence reads, clone sequences and assembly con*gs with BWA-MEM
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Integrating precision medicine in the study and clinical treatment of a severely mentally ill person
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