| scholarly article | Q13442814 |
| P50 | author | James R. Lupski | Q6141679 |
| Eric Boerwinkle | Q28050857 | ||
| Jennifer E. Posey | Q55397166 | ||
| Jill A Rosenfeld | Q55712565 | ||
| Xia Wang | Q56492873 | ||
| Richard A Gibbs | Q64856497 | ||
| Shweta Dhar | Q86850356 | ||
| Sharon E Plon | Q88684065 | ||
| Yaping Yang | Q88684079 | ||
| Christine M. Eng | Q111854443 | ||
| Zhiyv Niu | Q125311700 | ||
| Tomasz Gambin | Q30502549 | ||
| Donna Muzny | Q32652849 | ||
| P2093 | author name string | Arthur L Beaudet | |
| Richard E Person | |||
| Fan Xia | |||
| Chad A Shaw | |||
| Wojciech Wiszniewski | |||
| Matthew Bainbridge | |||
| V Reid Sutton | |||
| Regis A James | |||
| Zeynep H C Akdemir | |||
| Magdalena Walkiewicz | |||
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| Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities | Q35754537 | ||
| Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics | Q35832872 | ||
| Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy | Q35963428 | ||
| P433 | issue | 7 | |
| P407 | language of work or name | English | Q1860 |
| P304 | page(s) | 678-685 | |
| P577 | publication date | 2015-12-03 | |
| P1433 | published in | Genetics in Medicine | Q15765508 |
| P1476 | title | Molecular diagnostic experience of whole-exome sequencing in adult patients | |
| P478 | volume | 18 |
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| Q33775587 | Clinical Applicability of Whole-Exome Sequencing Exemplified by a Study in Young Adults with the Advanced Cryptogenic Cholestatic Liver Diseases. |
| Q57640710 | Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder |
| Q55074639 | Clinical providers' experiences with returning results from genomic sequencing: an interview study. |
| Q92059955 | Clinical utility of genetic testing in 201 preschool children with inherited eye disorders |
| Q88506835 | Comprehensive genomic analysis of patients with disorders of cerebral cortical development |
| Q90380093 | Computational Detection of Known Pathogenic Gene Fusions in a Normal Tissue Database and Implications for Genetic Disease Research |
| Q48267267 | Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing |
| Q38846804 | Defining the Clinical Value of a Genomic Diagnosis in the Era of Next-Generation Sequencing. |
| Q64039410 | Exome sequencing of a primary ovarian insufficiency cohort reveals common molecular etiologies for a spectrum of disease |
| Q60950343 | Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources |
| Q90677331 | Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data |
| Q52560273 | Functional characterization of DYRK1A missense variants associated with a syndromic form of intellectual deficiency and autism. |
| Q42140574 | GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function |
| Q40264381 | Genetic methods for analysis of autoinflammatory diseases |
| Q92993938 | Genome sequencing and implications for rare disorders |
| Q92506525 | Genomic medicine for undiagnosed diseases |
| Q37344774 | Genomic sequencing in clinical practice: applications, challenges, and opportunities |
| Q90748312 | Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing |
| Q59780534 | High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders |
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| Q89749300 | Incomplete penetrance in primary immunodeficiency: a skeleton in the closet |
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| Q61855138 | Insights into genetics, human biology and disease gleaned from family based genomic studies |
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| Q63614921 | Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project |
| Q41731672 | Lessons from the CAGI-4 Hopkins clinical panel challenge |
| Q37715741 | Lessons learned from additional research analyses of unsolved clinical exome cases |
| Q57066463 | Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis |
| Q41627953 | Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research |
| Q60304954 | Molecular autopsy: using the discovery of a novel de novo pathogenic variant in the KCNH2 gene to inform healthcare of surviving family |
| Q30374282 | Mutation of orthologous prickle genes causes a similar epilepsy syndrome in flies and humans. |
| Q52337511 | Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features. |
| Q57210317 | Navigating the nuances of clinical sequence variant interpretation in Mendelian disease |
| Q37344755 | Neuropsychiatric genomics in precision medicine: diagnostics, gene discovery, and translation |
| Q28073446 | New insights into the generation and role of de novo mutations in health and disease |
| Q61448622 | Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report |
| Q33729479 | Novel Combined Immune Deficiency and Radiation Sensitivity Blended Phenotype in an Adult with Biallelic Variations in ZAP70 and RNF168. |
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| Q37342031 | Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes |
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| Q42944116 | Response to Sandford et al.: PRICKLE2 Variants in Epilepsy: A Call for Precision Medicine |
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| Q38828975 | Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development |
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