Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology
Genetic testing has become an integral component of the diagnostic evaluation of patients with suspected primary immunodeficiency diseases. Results of genetic testing can have a profound effect on clinical management decisions. Therefore clinical providers must demonstrate proficiency in interpretin...
Ausführliche Beschreibung
Gespeichert in:
| Autor*in: |
Chinn, Ivan K. [verfasserIn] Chan, Alice Y. [verfasserIn] Chen, Karin [verfasserIn] Chou, Janet [verfasserIn] Dorsey, Morna J. [verfasserIn] Hajjar, Joud [verfasserIn] Jongco, Artemio M. [verfasserIn] Keller, Michael D. [verfasserIn] Kobrynski, Lisa J. [verfasserIn] Kumanovics, Attila [verfasserIn] Lawrence, Monica G. [verfasserIn] Leiding, Jennifer W. [verfasserIn] Lugar, Patricia L. [verfasserIn] Orange, Jordan S. [verfasserIn] Patel, Kiran [verfasserIn] Platt, Craig D. [verfasserIn] Puck, Jennifer M. [verfasserIn] Raje, Nikita [verfasserIn] Romberg, Neil [verfasserIn] Slack, Maria A. [verfasserIn] Sullivan, Kathleen E. [verfasserIn] Tarrant, Teresa K. [verfasserIn] Torgerson, Troy R. [verfasserIn] Walter, Jolan E. [verfasserIn] |
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| Format: |
E-Artikel |
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| Sprache: |
Englisch |
| Erschienen: |
2019 |
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| Schlagwörter: |
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| Übergeordnetes Werk: |
Enthalten in: The journal of allergy and clinical immunology - Amsterdam [u.a.] : Elsevier, 1971, 145 |
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| Übergeordnetes Werk: |
volume:145 |
| DOI / URN: |
10.1016/j.jaci.2019.09.009 |
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| Katalog-ID: |
ELV003407470 |
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| 245 | 1 | 0 | |a Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology |
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| 520 | |a Genetic testing has become an integral component of the diagnostic evaluation of patients with suspected primary immunodeficiency diseases. Results of genetic testing can have a profound effect on clinical management decisions. Therefore clinical providers must demonstrate proficiency in interpreting genetic data. Because of the need for increased knowledge regarding this practice, the American Academy of Allergy, Asthma & Immunology Primary Immunodeficiency Diseases Committee established a work group that reviewed and summarized information concerning appropriate methods, tools, and resources for evaluating variants identified by genetic testing. Strengths and limitations of tests frequently ordered by clinicians were examined. Summary statements and tables were then developed to guide the interpretation process. Finally, the need for research and collaboration was emphasized. Greater understanding of these important concepts will improve the diagnosis and management of patients with suspected primary immunodeficiency diseases. | ||
| 650 | 4 | |a Chromosomal microarray | |
| 650 | 4 | |a exome sequencing | |
| 650 | 4 | |a gene panel | |
| 650 | 4 | |a genetic testing | |
| 650 | 4 | |a genome sequencing | |
| 650 | 4 | |a Mendelian | |
| 650 | 4 | |a primary immunodeficiency | |
| 650 | 4 | |a Sanger sequencing | |
| 650 | 4 | |a tools | |
| 650 | 4 | |a variant interpretation | |
| 700 | 1 | |a Chan, Alice Y. |e verfasserin |4 aut | |
| 700 | 1 | |a Chen, Karin |e verfasserin |4 aut | |
| 700 | 1 | |a Chou, Janet |e verfasserin |4 aut | |
| 700 | 1 | |a Dorsey, Morna J. |e verfasserin |4 aut | |
| 700 | 1 | |a Hajjar, Joud |e verfasserin |4 aut | |
| 700 | 1 | |a Jongco, Artemio M. |e verfasserin |4 aut | |
| 700 | 1 | |a Keller, Michael D. |e verfasserin |4 aut | |
| 700 | 1 | |a Kobrynski, Lisa J. |e verfasserin |4 aut | |
| 700 | 1 | |a Kumanovics, Attila |e verfasserin |4 aut | |
| 700 | 1 | |a Lawrence, Monica G. |e verfasserin |4 aut | |
| 700 | 1 | |a Leiding, Jennifer W. |e verfasserin |4 aut | |
| 700 | 1 | |a Lugar, Patricia L. |e verfasserin |4 aut | |
| 700 | 1 | |a Orange, Jordan S. |e verfasserin |4 aut | |
| 700 | 1 | |a Patel, Kiran |e verfasserin |4 aut | |
| 700 | 1 | |a Platt, Craig D. |e verfasserin |4 aut | |
| 700 | 1 | |a Puck, Jennifer M. |e verfasserin |4 aut | |
| 700 | 1 | |a Raje, Nikita |e verfasserin |4 aut | |
| 700 | 1 | |a Romberg, Neil |e verfasserin |4 aut | |
| 700 | 1 | |a Slack, Maria A. |e verfasserin |4 aut | |
| 700 | 1 | |a Sullivan, Kathleen E. |e verfasserin |4 aut | |
| 700 | 1 | |a Tarrant, Teresa K. |e verfasserin |4 aut | |
| 700 | 1 | |a Torgerson, Troy R. |e verfasserin |4 aut | |
| 700 | 1 | |a Walter, Jolan E. |e verfasserin |4 aut | |
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10.1016/j.jaci.2019.09.009 doi (DE-627)ELV003407470 (ELSEVIER)S0091-6749(19)31245-X DE-627 ger DE-627 rda eng 610 DE-600 44.45 bkl 44.78 bkl Chinn, Ivan K. verfasserin aut Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology 2019 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Genetic testing has become an integral component of the diagnostic evaluation of patients with suspected primary immunodeficiency diseases. Results of genetic testing can have a profound effect on clinical management decisions. Therefore clinical providers must demonstrate proficiency in interpreting genetic data. Because of the need for increased knowledge regarding this practice, the American Academy of Allergy, Asthma & Immunology Primary Immunodeficiency Diseases Committee established a work group that reviewed and summarized information concerning appropriate methods, tools, and resources for evaluating variants identified by genetic testing. Strengths and limitations of tests frequently ordered by clinicians were examined. Summary statements and tables were then developed to guide the interpretation process. Finally, the need for research and collaboration was emphasized. Greater understanding of these important concepts will improve the diagnosis and management of patients with suspected primary immunodeficiency diseases. Chromosomal microarray exome sequencing gene panel genetic testing genome sequencing Mendelian primary immunodeficiency Sanger sequencing tools variant interpretation Chan, Alice Y. verfasserin aut Chen, Karin verfasserin aut Chou, Janet verfasserin aut Dorsey, Morna J. verfasserin aut Hajjar, Joud verfasserin aut Jongco, Artemio M. verfasserin aut Keller, Michael D. verfasserin aut Kobrynski, Lisa J. verfasserin aut Kumanovics, Attila verfasserin aut Lawrence, Monica G. verfasserin aut Leiding, Jennifer W. verfasserin aut Lugar, Patricia L. verfasserin aut Orange, Jordan S. verfasserin aut Patel, Kiran verfasserin aut Platt, Craig D. verfasserin aut Puck, Jennifer M. verfasserin aut Raje, Nikita verfasserin aut Romberg, Neil verfasserin aut Slack, Maria A. verfasserin aut Sullivan, Kathleen E. verfasserin aut Tarrant, Teresa K. verfasserin aut Torgerson, Troy R. verfasserin aut Walter, Jolan E. verfasserin aut Enthalten in The journal of allergy and clinical immunology Amsterdam [u.a.] : Elsevier, 1971 145 Online-Ressource (DE-627)32045553X (DE-600)2006613-2 (DE-576)094478864 1097-6825 nnns volume:145 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_168 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 44.45 Immunologie 44.78 Immunkrankheiten AR 145 |
| spelling |
10.1016/j.jaci.2019.09.009 doi (DE-627)ELV003407470 (ELSEVIER)S0091-6749(19)31245-X DE-627 ger DE-627 rda eng 610 DE-600 44.45 bkl 44.78 bkl Chinn, Ivan K. verfasserin aut Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology 2019 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Genetic testing has become an integral component of the diagnostic evaluation of patients with suspected primary immunodeficiency diseases. Results of genetic testing can have a profound effect on clinical management decisions. Therefore clinical providers must demonstrate proficiency in interpreting genetic data. Because of the need for increased knowledge regarding this practice, the American Academy of Allergy, Asthma & Immunology Primary Immunodeficiency Diseases Committee established a work group that reviewed and summarized information concerning appropriate methods, tools, and resources for evaluating variants identified by genetic testing. Strengths and limitations of tests frequently ordered by clinicians were examined. Summary statements and tables were then developed to guide the interpretation process. Finally, the need for research and collaboration was emphasized. Greater understanding of these important concepts will improve the diagnosis and management of patients with suspected primary immunodeficiency diseases. Chromosomal microarray exome sequencing gene panel genetic testing genome sequencing Mendelian primary immunodeficiency Sanger sequencing tools variant interpretation Chan, Alice Y. verfasserin aut Chen, Karin verfasserin aut Chou, Janet verfasserin aut Dorsey, Morna J. verfasserin aut Hajjar, Joud verfasserin aut Jongco, Artemio M. verfasserin aut Keller, Michael D. verfasserin aut Kobrynski, Lisa J. verfasserin aut Kumanovics, Attila verfasserin aut Lawrence, Monica G. verfasserin aut Leiding, Jennifer W. verfasserin aut Lugar, Patricia L. verfasserin aut Orange, Jordan S. verfasserin aut Patel, Kiran verfasserin aut Platt, Craig D. verfasserin aut Puck, Jennifer M. verfasserin aut Raje, Nikita verfasserin aut Romberg, Neil verfasserin aut Slack, Maria A. verfasserin aut Sullivan, Kathleen E. verfasserin aut Tarrant, Teresa K. verfasserin aut Torgerson, Troy R. verfasserin aut Walter, Jolan E. verfasserin aut Enthalten in The journal of allergy and clinical immunology Amsterdam [u.a.] : Elsevier, 1971 145 Online-Ressource (DE-627)32045553X (DE-600)2006613-2 (DE-576)094478864 1097-6825 nnns volume:145 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_168 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 44.45 Immunologie 44.78 Immunkrankheiten AR 145 |
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10.1016/j.jaci.2019.09.009 doi (DE-627)ELV003407470 (ELSEVIER)S0091-6749(19)31245-X DE-627 ger DE-627 rda eng 610 DE-600 44.45 bkl 44.78 bkl Chinn, Ivan K. verfasserin aut Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology 2019 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Genetic testing has become an integral component of the diagnostic evaluation of patients with suspected primary immunodeficiency diseases. Results of genetic testing can have a profound effect on clinical management decisions. Therefore clinical providers must demonstrate proficiency in interpreting genetic data. Because of the need for increased knowledge regarding this practice, the American Academy of Allergy, Asthma & Immunology Primary Immunodeficiency Diseases Committee established a work group that reviewed and summarized information concerning appropriate methods, tools, and resources for evaluating variants identified by genetic testing. Strengths and limitations of tests frequently ordered by clinicians were examined. Summary statements and tables were then developed to guide the interpretation process. Finally, the need for research and collaboration was emphasized. Greater understanding of these important concepts will improve the diagnosis and management of patients with suspected primary immunodeficiency diseases. Chromosomal microarray exome sequencing gene panel genetic testing genome sequencing Mendelian primary immunodeficiency Sanger sequencing tools variant interpretation Chan, Alice Y. verfasserin aut Chen, Karin verfasserin aut Chou, Janet verfasserin aut Dorsey, Morna J. verfasserin aut Hajjar, Joud verfasserin aut Jongco, Artemio M. verfasserin aut Keller, Michael D. verfasserin aut Kobrynski, Lisa J. verfasserin aut Kumanovics, Attila verfasserin aut Lawrence, Monica G. verfasserin aut Leiding, Jennifer W. verfasserin aut Lugar, Patricia L. verfasserin aut Orange, Jordan S. verfasserin aut Patel, Kiran verfasserin aut Platt, Craig D. verfasserin aut Puck, Jennifer M. verfasserin aut Raje, Nikita verfasserin aut Romberg, Neil verfasserin aut Slack, Maria A. verfasserin aut Sullivan, Kathleen E. verfasserin aut Tarrant, Teresa K. verfasserin aut Torgerson, Troy R. verfasserin aut Walter, Jolan E. verfasserin aut Enthalten in The journal of allergy and clinical immunology Amsterdam [u.a.] : Elsevier, 1971 145 Online-Ressource (DE-627)32045553X (DE-600)2006613-2 (DE-576)094478864 1097-6825 nnns volume:145 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_168 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 44.45 Immunologie 44.78 Immunkrankheiten AR 145 |
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10.1016/j.jaci.2019.09.009 doi (DE-627)ELV003407470 (ELSEVIER)S0091-6749(19)31245-X DE-627 ger DE-627 rda eng 610 DE-600 44.45 bkl 44.78 bkl Chinn, Ivan K. verfasserin aut Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology 2019 nicht spezifiziert zzz rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Genetic testing has become an integral component of the diagnostic evaluation of patients with suspected primary immunodeficiency diseases. Results of genetic testing can have a profound effect on clinical management decisions. Therefore clinical providers must demonstrate proficiency in interpreting genetic data. Because of the need for increased knowledge regarding this practice, the American Academy of Allergy, Asthma & Immunology Primary Immunodeficiency Diseases Committee established a work group that reviewed and summarized information concerning appropriate methods, tools, and resources for evaluating variants identified by genetic testing. Strengths and limitations of tests frequently ordered by clinicians were examined. Summary statements and tables were then developed to guide the interpretation process. Finally, the need for research and collaboration was emphasized. Greater understanding of these important concepts will improve the diagnosis and management of patients with suspected primary immunodeficiency diseases. Chromosomal microarray exome sequencing gene panel genetic testing genome sequencing Mendelian primary immunodeficiency Sanger sequencing tools variant interpretation Chan, Alice Y. verfasserin aut Chen, Karin verfasserin aut Chou, Janet verfasserin aut Dorsey, Morna J. verfasserin aut Hajjar, Joud verfasserin aut Jongco, Artemio M. verfasserin aut Keller, Michael D. verfasserin aut Kobrynski, Lisa J. verfasserin aut Kumanovics, Attila verfasserin aut Lawrence, Monica G. verfasserin aut Leiding, Jennifer W. verfasserin aut Lugar, Patricia L. verfasserin aut Orange, Jordan S. verfasserin aut Patel, Kiran verfasserin aut Platt, Craig D. verfasserin aut Puck, Jennifer M. verfasserin aut Raje, Nikita verfasserin aut Romberg, Neil verfasserin aut Slack, Maria A. verfasserin aut Sullivan, Kathleen E. verfasserin aut Tarrant, Teresa K. verfasserin aut Torgerson, Troy R. verfasserin aut Walter, Jolan E. verfasserin aut Enthalten in The journal of allergy and clinical immunology Amsterdam [u.a.] : Elsevier, 1971 145 Online-Ressource (DE-627)32045553X (DE-600)2006613-2 (DE-576)094478864 1097-6825 nnns volume:145 GBV_USEFLAG_U SYSFLAG_U GBV_ELV SSG-OLC-PHA GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_32 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_90 GBV_ILN_95 GBV_ILN_100 GBV_ILN_101 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_168 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_370 GBV_ILN_602 GBV_ILN_702 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2027 GBV_ILN_2034 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2049 GBV_ILN_2050 GBV_ILN_2056 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2064 GBV_ILN_2065 GBV_ILN_2068 GBV_ILN_2111 GBV_ILN_2112 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2129 GBV_ILN_2143 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2336 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4249 GBV_ILN_4251 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4393 GBV_ILN_4700 44.45 Immunologie 44.78 Immunkrankheiten AR 145 |
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Chinn, Ivan K. @@aut@@ Chan, Alice Y. @@aut@@ Chen, Karin @@aut@@ Chou, Janet @@aut@@ Dorsey, Morna J. @@aut@@ Hajjar, Joud @@aut@@ Jongco, Artemio M. @@aut@@ Keller, Michael D. @@aut@@ Kobrynski, Lisa J. @@aut@@ Kumanovics, Attila @@aut@@ Lawrence, Monica G. @@aut@@ Leiding, Jennifer W. @@aut@@ Lugar, Patricia L. @@aut@@ Orange, Jordan S. @@aut@@ Patel, Kiran @@aut@@ Platt, Craig D. @@aut@@ Puck, Jennifer M. @@aut@@ Raje, Nikita @@aut@@ Romberg, Neil @@aut@@ Slack, Maria A. @@aut@@ Sullivan, Kathleen E. @@aut@@ Tarrant, Teresa K. @@aut@@ Torgerson, Troy R. @@aut@@ Walter, Jolan E. @@aut@@ |
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Chinn, Ivan K. |
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Chinn, Ivan K. ddc 610 bkl 44.45 bkl 44.78 misc Chromosomal microarray misc exome sequencing misc gene panel misc genetic testing misc genome sequencing misc Mendelian misc primary immunodeficiency misc Sanger sequencing misc tools misc variant interpretation Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology |
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610 DE-600 44.45 bkl 44.78 bkl Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology Chromosomal microarray exome sequencing gene panel genetic testing genome sequencing Mendelian primary immunodeficiency Sanger sequencing tools variant interpretation |
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ddc 610 bkl 44.45 bkl 44.78 misc Chromosomal microarray misc exome sequencing misc gene panel misc genetic testing misc genome sequencing misc Mendelian misc primary immunodeficiency misc Sanger sequencing misc tools misc variant interpretation |
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Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology |
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Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology |
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Chinn, Ivan K. Chan, Alice Y. Chen, Karin Chou, Janet Dorsey, Morna J. Hajjar, Joud Jongco, Artemio M. Keller, Michael D. Kobrynski, Lisa J. Kumanovics, Attila Lawrence, Monica G. Leiding, Jennifer W. Lugar, Patricia L. Orange, Jordan S. Patel, Kiran Platt, Craig D. Puck, Jennifer M. Raje, Nikita Romberg, Neil Slack, Maria A. Sullivan, Kathleen E. Tarrant, Teresa K. Torgerson, Troy R. Walter, Jolan E. |
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Chinn, Ivan K. |
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diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: a working group report of the primary immunodeficiency diseases committee of the american academy of allergy, asthma & immunology |
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Diagnostic interpretation of genetic studies in patients with primary immunodeficiency diseases: A working group report of the Primary Immunodeficiency Diseases Committee of the American Academy of Allergy, Asthma & Immunology |
| abstract |
Genetic testing has become an integral component of the diagnostic evaluation of patients with suspected primary immunodeficiency diseases. Results of genetic testing can have a profound effect on clinical management decisions. Therefore clinical providers must demonstrate proficiency in interpreting genetic data. Because of the need for increased knowledge regarding this practice, the American Academy of Allergy, Asthma & Immunology Primary Immunodeficiency Diseases Committee established a work group that reviewed and summarized information concerning appropriate methods, tools, and resources for evaluating variants identified by genetic testing. Strengths and limitations of tests frequently ordered by clinicians were examined. Summary statements and tables were then developed to guide the interpretation process. Finally, the need for research and collaboration was emphasized. Greater understanding of these important concepts will improve the diagnosis and management of patients with suspected primary immunodeficiency diseases. |
| abstractGer |
Genetic testing has become an integral component of the diagnostic evaluation of patients with suspected primary immunodeficiency diseases. Results of genetic testing can have a profound effect on clinical management decisions. Therefore clinical providers must demonstrate proficiency in interpreting genetic data. Because of the need for increased knowledge regarding this practice, the American Academy of Allergy, Asthma & Immunology Primary Immunodeficiency Diseases Committee established a work group that reviewed and summarized information concerning appropriate methods, tools, and resources for evaluating variants identified by genetic testing. Strengths and limitations of tests frequently ordered by clinicians were examined. Summary statements and tables were then developed to guide the interpretation process. Finally, the need for research and collaboration was emphasized. Greater understanding of these important concepts will improve the diagnosis and management of patients with suspected primary immunodeficiency diseases. |
| abstract_unstemmed |
Genetic testing has become an integral component of the diagnostic evaluation of patients with suspected primary immunodeficiency diseases. Results of genetic testing can have a profound effect on clinical management decisions. Therefore clinical providers must demonstrate proficiency in interpreting genetic data. Because of the need for increased knowledge regarding this practice, the American Academy of Allergy, Asthma & Immunology Primary Immunodeficiency Diseases Committee established a work group that reviewed and summarized information concerning appropriate methods, tools, and resources for evaluating variants identified by genetic testing. Strengths and limitations of tests frequently ordered by clinicians were examined. Summary statements and tables were then developed to guide the interpretation process. Finally, the need for research and collaboration was emphasized. Greater understanding of these important concepts will improve the diagnosis and management of patients with suspected primary immunodeficiency diseases. |
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Chan, Alice Y. Chen, Karin Chou, Janet Dorsey, Morna J. Hajjar, Joud Jongco, Artemio M. Keller, Michael D. Kobrynski, Lisa J. Kumanovics, Attila Lawrence, Monica G. Leiding, Jennifer W. Lugar, Patricia L. Orange, Jordan S. Patel, Kiran Platt, Craig D. Puck, Jennifer M. Raje, Nikita Romberg, Neil Slack, Maria A. Sullivan, Kathleen E. Tarrant, Teresa K. Torgerson, Troy R. Walter, Jolan E. |
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Chan, Alice Y. Chen, Karin Chou, Janet Dorsey, Morna J. Hajjar, Joud Jongco, Artemio M. Keller, Michael D. Kobrynski, Lisa J. Kumanovics, Attila Lawrence, Monica G. Leiding, Jennifer W. Lugar, Patricia L. Orange, Jordan S. Patel, Kiran Platt, Craig D. Puck, Jennifer M. Raje, Nikita Romberg, Neil Slack, Maria A. Sullivan, Kathleen E. Tarrant, Teresa K. Torgerson, Troy R. Walter, Jolan E. |
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