P750: Clinical validation of transcriptome analysis for the diagnosis of Mendelian disorders
| Main Authors: | , , , , , , , , , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Elsevier
2024-01-01
|
| Series: | Genetics in Medicine Open |
| Online Access: | http://www.sciencedirect.com/science/article/pii/S2949774424008008 |
| _version_ | 1797267395884089344 |
|---|---|
| author | Kristina Macakova Jefferson Sinson Sen Zhao Hongzheng Dai Jill Rosenfeld Gladys Zapata Shenglan Li Patricia Ward Christiana Wang Chunjing Qu Becky Maywald Undiagnosed Disease Network Brendan Lee Christine Eng Pengfei Liu |
| author_facet | Kristina Macakova Jefferson Sinson Sen Zhao Hongzheng Dai Jill Rosenfeld Gladys Zapata Shenglan Li Patricia Ward Christiana Wang Chunjing Qu Becky Maywald Undiagnosed Disease Network Brendan Lee Christine Eng Pengfei Liu |
| author_sort | Kristina Macakova |
| collection | DOAJ |
| first_indexed | 2024-04-25T01:15:55Z |
| format | Article |
| id | doaj.art-7ddd6f490b96489aa3c6b57db61cc3d7 |
| institution | Directory Open Access Journal |
| issn | 2949-7744 |
| language | English |
| last_indexed | 2024-04-25T01:15:55Z |
| publishDate | 2024-01-01 |
| publisher | Elsevier |
| record_format | Article |
| series | Genetics in Medicine Open |
| spelling | doaj.art-7ddd6f490b96489aa3c6b57db61cc3d72024-03-09T09:33:28ZengElsevierGenetics in Medicine Open2949-77442024-01-012101654P750: Clinical validation of transcriptome analysis for the diagnosis of Mendelian disordersKristina Macakova0Jefferson Sinson1Sen Zhao2Hongzheng Dai3Jill Rosenfeld4Gladys Zapata5Shenglan Li6Patricia Ward7Christiana Wang8Chunjing Qu9Becky Maywald10Undiagnosed Disease Network11Brendan Lee12Christine Eng13Pengfei Liu14Graduate Program in Diagnostic Genetics and Genomics, The University of Texas MD Anderson Cancer Center School of Health Professions, Baylor College of MedicineBaylor College of MedicineBaylor College of MedicineBaylor College of Medicine, Baylor GeneticsBaylor College of MedicineBaylor College of MedicineBaylor College of MedicineBaylor College of Medicine, Baylor GeneticsBaylor College of MedicineBaylor GeneticsBaylor College of MedicineUndiagnosed Disease NetworkBaylor College of MedicineBaylor College of Medicine, Baylor GeneticsBaylor College of Medicine, Baylor Geneticshttp://www.sciencedirect.com/science/article/pii/S2949774424008008 |
| spellingShingle | Kristina Macakova Jefferson Sinson Sen Zhao Hongzheng Dai Jill Rosenfeld Gladys Zapata Shenglan Li Patricia Ward Christiana Wang Chunjing Qu Becky Maywald Undiagnosed Disease Network Brendan Lee Christine Eng Pengfei Liu P750: Clinical validation of transcriptome analysis for the diagnosis of Mendelian disorders Genetics in Medicine Open |
| title | P750: Clinical validation of transcriptome analysis for the diagnosis of Mendelian disorders |
| title_full | P750: Clinical validation of transcriptome analysis for the diagnosis of Mendelian disorders |
| title_fullStr | P750: Clinical validation of transcriptome analysis for the diagnosis of Mendelian disorders |
| title_full_unstemmed | P750: Clinical validation of transcriptome analysis for the diagnosis of Mendelian disorders |
| title_short | P750: Clinical validation of transcriptome analysis for the diagnosis of Mendelian disorders |
| title_sort | p750 clinical validation of transcriptome analysis for the diagnosis of mendelian disorders |
| url | http://www.sciencedirect.com/science/article/pii/S2949774424008008 |
| work_keys_str_mv | AT kristinamacakova p750clinicalvalidationoftranscriptomeanalysisforthediagnosisofmendeliandisorders AT jeffersonsinson p750clinicalvalidationoftranscriptomeanalysisforthediagnosisofmendeliandisorders AT senzhao p750clinicalvalidationoftranscriptomeanalysisforthediagnosisofmendeliandisorders AT hongzhengdai p750clinicalvalidationoftranscriptomeanalysisforthediagnosisofmendeliandisorders AT jillrosenfeld p750clinicalvalidationoftranscriptomeanalysisforthediagnosisofmendeliandisorders AT gladyszapata p750clinicalvalidationoftranscriptomeanalysisforthediagnosisofmendeliandisorders AT shenglanli p750clinicalvalidationoftranscriptomeanalysisforthediagnosisofmendeliandisorders AT patriciaward p750clinicalvalidationoftranscriptomeanalysisforthediagnosisofmendeliandisorders AT christianawang p750clinicalvalidationoftranscriptomeanalysisforthediagnosisofmendeliandisorders AT chunjingqu p750clinicalvalidationoftranscriptomeanalysisforthediagnosisofmendeliandisorders AT beckymaywald p750clinicalvalidationoftranscriptomeanalysisforthediagnosisofmendeliandisorders AT undiagnoseddiseasenetwork p750clinicalvalidationoftranscriptomeanalysisforthediagnosisofmendeliandisorders AT brendanlee p750clinicalvalidationoftranscriptomeanalysisforthediagnosisofmendeliandisorders AT christineeng p750clinicalvalidationoftranscriptomeanalysisforthediagnosisofmendeliandisorders AT pengfeiliu p750clinicalvalidationoftranscriptomeanalysisforthediagnosisofmendeliandisorders |