| scholarly article | Q13442814 |
| P356 | DOI | 10.1038/GIM.2014.58 |
| P6366 | Microsoft Academic ID | 1999451199 |
| P698 | PubMed publication ID | 24901346 |
| P5875 | ResearchGate publication ID | 262885997 |
| P50 | author | Kwame Anyane-Yeboa | Q57449127 |
| Julia Wynn | Q85724341 | ||
| P2093 | author name string | Wendy K Chung | |
| Ashley Wilson | |||
| Megan Truitt Cho | |||
| Claire Egan | |||
| Edwin Guzman | |||
| Rebecca Sisson | |||
| Alejandro Iglesias | |||
| P2860 | cites work | Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome | Q24296397 |
| Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study | Q28275978 | ||
| Forward genetics uncovers Transmembrane protein 107 as a novel factor required for ciliogenesis and Sonic hedgehog signaling | Q28510279 | ||
| ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing | Q29616235 | ||
| Clinical whole-exome sequencing for the diagnosis of mendelian disorders | Q34413680 | ||
| Mutation in SNAP25 as a novel genetic cause of epilepsy and intellectual disability | Q37599744 | ||
| Next generation sequencing in the clinical domain: clinical advantages, practical, and ethical challenges | Q38050574 | ||
| Exome and whole-genome sequencing as clinical tests: a transformative practice in molecular diagnostics | Q38052092 | ||
| Megacystis-microcolon-intestinal hypoperistalsis syndrome: case report and review of prenatal ultrasonographic findings | Q38191798 | ||
| The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders | Q45225641 | ||
| Diagnostic exome sequencing in persons with severe intellectual disability | Q55670486 | ||
| Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy | Q55671550 | ||
| Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-Methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and leigh-Like Syndrome) caused by novel mutations in SERAC1 | Q63256284 | ||
| Genomics in clinical practice: lessons from the front lines | Q87110236 | ||
| P433 | issue | 12 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 922-931 | |
| P577 | publication date | 2014-06-05 | |
| P1433 | published in | Genetics in Medicine | Q15765508 |
| P1476 | title | The usefulness of whole-exome sequencing in routine clinical practice. | |
| P478 | volume | 16 |
| Q38820327 | A Clinician's perspective on clinical exome sequencing. |
| Q38883296 | A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology |
| Q98287670 | A cost-effectiveness analysis of genomic sequencing in a prospective versus historical cohort of complex pediatric patients |
| Q92003477 | A head-to-head evaluation of the diagnostic efficacy and costs of trio versus singleton exome sequencing analysis |
| Q50519147 | A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects. |
| Q53534704 | Atypical fibrodysplasia ossificans progressiva diagnosed by whole-exome sequencing. |
| Q37637598 | Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases. |
| Q48267638 | Care and cost consequences of pediatric whole genome sequencing compared to chromosome microarray |
| Q26765984 | Case report of novel DYRK1A mutations in 2 individuals with syndromic intellectual disability and a review of the literature |
| Q47735897 | Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development |
| Q88671191 | Clinical Application of Genome and Exome Sequencing as a Diagnostic Tool for Pediatric Patients: a Scoping Review of the Literature |
| Q35910407 | Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience. |
| Q93073745 | Clinical application of next-generation sequencing to the practice of neurology |
| Q33755919 | Clinical diagnostic exome evaluation for an infant with a lethal disorder: genetic diagnosis of TARP syndrome and expansion of the phenotype in a patient with a newly reported RBM10 alteration. |
| Q36553983 | Clinical exome sequencing in neurogenetic and neuropsychiatric disorders |
| Q36789878 | Clinical exome sequencing in neurologic disease |
| Q42371215 | Clinical phenotype of ASD-associated DYRK1A haploinsufficiency |
| Q55074639 | Clinical providers' experiences with returning results from genomic sequencing: an interview study. |
| Q45951588 | Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis. |
| Q57467606 | Clinical whole-exome sequencing results impact medical management |
| Q37257098 | Concordance between whole-exome sequencing and clinical Sanger sequencing: implications for patient care |
| Q26776038 | Cracking the Code of Human Diseases Using Next-Generation Sequencing: Applications, Challenges, and Perspectives |
| Q38846804 | Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing. |
| Q28118637 | Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease |
| Q47278375 | Diagnostic exome sequencing in children: A survey of parental understanding, experience and psychological impact |
| Q46498407 | Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy |
| Q38912161 | Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability. |
| Q38263926 | Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. |
| Q41009411 | Evaluating a counselling strategy for diagnostic WES in paediatric neurology: an exploration of parents' information and communication needs |
| Q36890898 | Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer |
| Q38988654 | Exome Sequencing: Current and Future Perspectives |
| Q36267724 | Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels |
| Q51724068 | Exome sequencing identifies a novel nonsense mutation of HOXD13 in a Chinese family with synpolydactyly. |
| Q64040878 | Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study) |
| Q58792928 | Exome sequencing of an adolescent with nonalcoholic fatty liver disease identifies a clinically actionable case of Wilson disease |
| Q40294105 | Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies |
| Q54858926 | Experiences with obtaining informed consent for genomic sequencing. |
| Q53079759 | Exploring the Issues Surrounding Clinical Exome Sequencing in the Prenatal Setting. |
| Q39176592 | Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes |
| Q50211801 | Genetic Testing in a Cohort of Complex Esophageal Atresia |
| Q89553180 | Genetic Tests by Next Generation Sequencing in Children with Developmental Delay and/or Intellectual disability |
| Q47560546 | Genetic analysis of very obese children with autism spectrum disorder |
| Q38562550 | Genome-Wide Sequencing for Prenatal Detection of Fetal Single-Gene Disorders |
| Q38272983 | Genomic Testing: a Genetic Counselor's Personal Reflection on Three Years of Consenting and Testing. |
| Q35693908 | Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis |
| Q64937909 | Homozygous noncanonical splice variant in LSM1 in two siblings with multiple congenital anomalies and global developmental delay. |
| Q39730574 | Improved diagnostic yield of neuromuscular disorders applying clinical exome sequencing in patients arising from a consanguineous population |
| Q92503067 | Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines |
| Q38636847 | Inflammatory Bowel Disease: Genetics, Epigenetics, and Pathogenesis. |
| Q46384543 | M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity |
| Q92643173 | Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders |
| Q90014721 | Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases |
| Q36968463 | Molecular diagnostic experience of whole-exome sequencing in adult patients |
| Q37004966 | Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects |
| Q38655437 | NGS Technologies as a Turning Point in Rare Disease Research , Diagnosis and Treatment. |
| Q87284284 | Next Generation Sequencing in the Clinic |
| Q36811810 | Orthogonal NGS for High Throughput Clinical Diagnostics |
| Q91081315 | Patients with cobalamin G or J defect missed by the current newborn screening program: diagnosis and novel mutations |
| Q64092039 | Performance evaluation of commercial library construction kits for PCR-based targeted sequencing using a unique molecular identifier |
| Q90003673 | Perspectives of US private payers on insurance coverage for pediatric and prenatal exome sequencing: Results of a study from the Program in Prenatal and Pediatric Genomic Sequencing (P3EGS) |
| Q35974905 | Phenotype-driven gene target definition in clinical genome-wide sequencing data interpretation. |
| Q89575513 | Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization |
| Q41441536 | Practical considerations in the clinical application of whole-exome sequencing |
| Q38954748 | Prenatal and pre-implantation genetic diagnosis |
| Q91526826 | Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield |
| Q91361875 | Ranking of non-coding pathogenic variants and putative essential regions of the human genome |
| Q92055281 | Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecular diagnostic yields for sudden death and idiopathic diseases |
| Q41756168 | Returning pharmacogenetic secondary findings from genome sequencing: let's not put the cart before the horse. |
| Q62659082 | S-CAP extends pathogenicity prediction to genetic variants that affect RNA splicing |
| Q47622861 | Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease |
| Q57178162 | Sequencing Newborns: A Call for Nuanced Use of Genomic Technologies |
| Q90590119 | Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability |
| Q31116359 | Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers. |
| Q40373909 | TMEM107 Is a Critical Regulator of Ciliary Protein Composition and Is Mutated in Orofaciodigital Syndrome |
| Q28115647 | TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome |
| Q38933635 | The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results. |
| Q57907556 | The Genomics ADvISER: development and usability testing of a decision aid for the selection of incidental sequencing results |
| Q38271150 | The clinical utility of whole-exome sequencing in the context of rare diseases - the changing tides of medical practice |
| Q50195466 | The cost and diagnostic yield of exome sequencing for children with suspected genetic disorders: a benchmarking study |
| Q37421261 | Understanding the Psychosocial Effects of WES Test Results on Parents of Children with Rare Diseases |
| Q26747724 | Update on oral-facial-digital syndromes (OFDS) |
| Q92228234 | When moments matter: Finding answers with rapid exome sequencing |
| Q64977645 | Whole-Exome Sequencing Identifies Somatic Mutations Associated With Mortality in Metastatic Clear Cell Kidney Carcinoma. |
| Q55275026 | Whole-Exome Sequencing in Searching for New Variants Associated With the Development of Parkinson's Disease. |
| Q39624109 | Whole-exome sequencing in neurologic practice: Reducing the diagnostic odyssey |
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