| P50 | author | Marisa A Vineyard | Q37836863 |
| | Tomi L Toler | Q85651872 |
| | Dustin Baldridge | Q89394298 |
| | Jennifer Heeley | Q89394300 |
| | Emily Fassi | Q89394302 |
| | Elise Fiala | Q89394304 |
| | Dorothy K Grange | Q91908338 |
| P2093 | author name string | Sarah Brown | |
| | Beth A Kozel | |
| | Marwan Shinawi | |
| | Marcia Willing | |
| | Linda Manwaring | |
| | Charles W Goss | |
| P2860 | cites work | Genetic Misdiagnoses and the Potential for Health Disparities | Q26316693 |
| | Exome sequencing as a tool for Mendelian disease gene discovery | Q29615382 |
| | ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing | Q29616235 |
| | Actionable exomic incidental findings in 6503 participants: challenges of variant classification | Q30300875 |
| | 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 | Q34465792 |
| | Clinical exome sequencing for genetic identification of rare Mendelian disorders | Q34782655 |
| | Molecular findings among patients referred for clinical whole-exome sequencing | Q35078373 |
| | A Novel Mutation in Isoform 3 of the Plasma Membrane Ca2+ Pump Impairs Cellular Ca2+ Homeostasis in a Patient with Cerebellar Ataxia and Laminin Subunit 1α Mutations | Q35783112 |
| | Next-generation sequencing demands next-generation phenotyping | Q35892539 |
| | Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience. | Q35910407 |
| | A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex | Q36891479 |
| | Molecular diagnostic experience of whole-exome sequencing in adult patients | Q36968463 |
| | A defect in the retromer accessory protein, SNX27, manifests by infantile myoclonic epilepsy and neurodegeneration | Q37130638 |
| | Diagnostic clinical genome and exome sequencing | Q38221192 |
| | Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions. | Q38263926 |
| | Mutations in COQ4, an essential component of coenzyme Q biosynthesis, cause lethal neonatal mitochondrial encephalomyopathy. | Q38549163 |
| | WAC loss-of-function mutations cause a recognisable syndrome characterised by dysmorphic features, developmental delay and hypotonia and recapitulate 10p11.23 microdeletion syndrome. | Q38564668 |
| | Mutations in the DNA methyltransferase gene DNMT3A cause an overgrowth syndrome with intellectual disability. | Q38683360 |
| | Clinical application of whole-exome sequencing across clinical indications | Q41075733 |
| | Practical considerations in the clinical application of whole-exome sequencing | Q41441536 |
| | Against all odds: blended phenotypes of three single-gene defects | Q41691546 |
| | Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families | Q48124644 |
| | A recurrent de novo CTBP1 mutation is associated with developmental delay, hypotonia, ataxia, and tooth enamel defects. | Q50519147 |
| | The usefulness of whole-exome sequencing in routine clinical practice. | Q50657606 |
| | A novel variant in GABRB2 associated with intellectual disability and epilepsy. | Q55058460 |
| | Overcalling secondary findings | Q57641504 |
| P433 | issue | 9 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | medical genetics | Q1071953 |
| P304 | page(s) | 1040-1048 | |
| P577 | publication date | 2017-03-02 | |
| P1433 | published in | Genetics in Medicine | Q15765508 |
| P1476 | title | The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results | |
| P478 | volume | 19 | |