Functional genomics for curation of variants in telomere biology disorder associated genes: a systematic review
Patients with an underlying telomere biology disorder (TBD) have variable clinical presentations, and they can be challenging to diagnose clinically. A genomic diagnosis for patients presenting with TBD is vital for optimal treatment. Unfortunately, many variants identified during diagnostic testing...
Gespeichert in:
| Hauptverfasser: | , , , , , , , , |
|---|---|
| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
March 2023
|
| In: |
Genetics in medicine
Year: 2023, Jahrgang: 25, Heft: 3, Pages: 1-18 |
| ISSN: | 1530-0366 |
| DOI: | 10.1016/j.gim.2022.11.021 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1016/j.gim.2022.11.021 Verlag, lizenzpflichtig, Volltext: https://www.sciencedirect.com/science/article/pii/S1098360022010590 
|
| Verfasserangaben: | Niles Nelson, Simone Feurstein, Aram Niaz, Jia Truong, Jessica K. Holien, Sionne Lucas, Kirsten Fairfax, Joanne Dickinson, Tracy M. Bryan |
MARC
| LEADER | 00000caa a2200000 c 4500 | ||
|---|---|---|---|
| 001 | 1839749563 | ||
| 003 | DE-627 | ||
| 005 | 20231122142240.0 | ||
| 007 | cr uuu---uuuuu | ||
| 008 | 230322s2023 xx |||||o 00| ||eng c | ||
| 024 | 7 | |a 10.1016/j.gim.2022.11.021 |2 doi | |
| 035 | |a (DE-627)1839749563 | ||
| 035 | |a (DE-599)KXP1839749563 | ||
| 035 | |a (OCoLC)1389531211 | ||
| 040 | |a DE-627 |b ger |c DE-627 |e rda | ||
| 041 | |a eng | ||
| 084 | |a 33 |2 sdnb | ||
| 100 | 1 | |a Nelson, Niles |e VerfasserIn |0 (DE-588)1310774919 |0 (DE-627)1870883497 |4 aut | |
| 245 | 1 | 0 | |a Functional genomics for curation of variants in telomere biology disorder associated genes |b a systematic review |c Niles Nelson, Simone Feurstein, Aram Niaz, Jia Truong, Jessica K. Holien, Sionne Lucas, Kirsten Fairfax, Joanne Dickinson, Tracy M. Bryan |
| 264 | 1 | |c March 2023 | |
| 300 | |b Illustrationen | ||
| 300 | |a 18 | ||
| 336 | |a Text |b txt |2 rdacontent | ||
| 337 | |a Computermedien |b c |2 rdamedia | ||
| 338 | |a Online-Ressource |b cr |2 rdacarrier | ||
| 500 | |a Online veröffentlicht am 7. Dezember 2022, Artikelversion vom 20. Januar 2023 | ||
| 500 | |a Gesehen am 22.11.2023 | ||
| 520 | |a Patients with an underlying telomere biology disorder (TBD) have variable clinical presentations, and they can be challenging to diagnose clinically. A genomic diagnosis for patients presenting with TBD is vital for optimal treatment. Unfortunately, many variants identified during diagnostic testing are variants of uncertain significance. This complicates management decisions, delays treatment, and risks nonuptake of potentially curative therapies. Improved application of functional genomic evidence may reduce variants of uncertain significance classifications. | ||
| 650 | 4 | |a ACMG/AMP criteria | |
| 650 | 4 | |a Direct telomerase assay | |
| 650 | 4 | |a Germline variant curation | |
| 650 | 4 | |a Telomere biology disorder | |
| 650 | 4 | |a Telomeric repeat amplification protocol | |
| 700 | 1 | |a Feurstein, Simone |d 1987- |e VerfasserIn |0 (DE-588)1080272453 |0 (DE-627)844111821 |0 (DE-576)453452981 |4 aut | |
| 700 | 1 | |a Niaz, Aram |e VerfasserIn |4 aut | |
| 700 | 1 | |a Truong, Jia |e VerfasserIn |4 aut | |
| 700 | 1 | |a Holien, Jessica K. |e VerfasserIn |4 aut | |
| 700 | 1 | |a Lucas, Sionne |e VerfasserIn |4 aut | |
| 700 | 1 | |a Fairfax, Kirsten |e VerfasserIn |4 aut | |
| 700 | 1 | |a Dickinson, Joanne |e VerfasserIn |4 aut | |
| 700 | 1 | |a Bryan, Tracy M. |e VerfasserIn |4 aut | |
| 773 | 0 | 8 | |i Enthalten in |t Genetics in medicine |d Amsterdam : Elsevier, 1998 |g 25(2023), 3 vom: März, Artikel-ID 100354, Seite 1-18 |h Online-Ressource |w (DE-627)338073361 |w (DE-600)2063504-7 |w (DE-576)109132475 |x 1530-0366 |7 nnas |a Functional genomics for curation of variants in telomere biology disorder associated genes a systematic review |
| 773 | 1 | 8 | |g volume:25 |g year:2023 |g number:3 |g month:03 |g elocationid:100354 |g pages:1-18 |g extent:18 |a Functional genomics for curation of variants in telomere biology disorder associated genes a systematic review |
| 856 | 4 | 0 | |u https://doi.org/10.1016/j.gim.2022.11.021 |x Verlag |x Resolving-System |z lizenzpflichtig |3 Volltext |
| 856 | 4 | 0 | |u https://www.sciencedirect.com/science/article/pii/S1098360022010590 |x Verlag |z lizenzpflichtig |3 Volltext |
| 951 | |a AR | ||
| 992 | |a 20230322 | ||
| 993 | |a Article | ||
| 994 | |a 2023 | ||
| 998 | |g 1080272453 |a Feurstein, Simone |m 1080272453:Feurstein, Simone |d 910000 |d 910100 |e 910000PF1080272453 |e 910100PF1080272453 |k 0/910000/ |k 1/910000/910100/ |p 2 | ||
| 999 | |a KXP-PPN1839749563 |e 4294483415 | ||
| BIB | |a Y | ||
| SER | |a journal | ||
| JSO | |a {"language":["eng"],"recId":"1839749563","note":["Online veröffentlicht am 7. Dezember 2022, Artikelversion vom 20. Januar 2023","Gesehen am 22.11.2023"],"type":{"media":"Online-Ressource","bibl":"article-journal"},"person":[{"display":"Nelson, Niles","roleDisplay":"VerfasserIn","role":"aut","family":"Nelson","given":"Niles"},{"family":"Feurstein","given":"Simone","display":"Feurstein, Simone","roleDisplay":"VerfasserIn","role":"aut"},{"family":"Niaz","given":"Aram","roleDisplay":"VerfasserIn","display":"Niaz, Aram","role":"aut"},{"given":"Jia","family":"Truong","role":"aut","roleDisplay":"VerfasserIn","display":"Truong, Jia"},{"display":"Holien, Jessica K.","roleDisplay":"VerfasserIn","role":"aut","family":"Holien","given":"Jessica K."},{"role":"aut","roleDisplay":"VerfasserIn","display":"Lucas, Sionne","given":"Sionne","family":"Lucas"},{"roleDisplay":"VerfasserIn","display":"Fairfax, Kirsten","role":"aut","family":"Fairfax","given":"Kirsten"},{"given":"Joanne","family":"Dickinson","role":"aut","display":"Dickinson, Joanne","roleDisplay":"VerfasserIn"},{"role":"aut","display":"Bryan, Tracy M.","roleDisplay":"VerfasserIn","given":"Tracy M.","family":"Bryan"}],"title":[{"title":"Functional genomics for curation of variants in telomere biology disorder associated genes","subtitle":"a systematic review","title_sort":"Functional genomics for curation of variants in telomere biology disorder associated genes"}],"relHost":[{"title":[{"title":"Genetics in medicine","subtitle":"official journal of the American College of Medical Genetics","title_sort":"Genetics in medicine"}],"titleAlt":[{"title":"GIM"}],"part":{"volume":"25","text":"25(2023), 3 vom: März, Artikel-ID 100354, Seite 1-18","extent":"18","year":"2023","pages":"1-18","issue":"3"},"pubHistory":["1.1998/99 -"],"language":["eng"],"corporate":[{"role":"isb","display":"American College of Medical Genetics","roleDisplay":"Herausgebendes Organ"}],"recId":"338073361","type":{"media":"Online-Ressource","bibl":"periodical"},"disp":"Functional genomics for curation of variants in telomere biology disorder associated genes a systematic reviewGenetics in medicine","note":["Gesehen am 27.07.2023"],"id":{"issn":["1530-0366"],"eki":["338073361"],"zdb":["2063504-7"]},"origin":[{"dateIssuedKey":"1998","publisher":"Elsevier ; Springer Nature ; Lippincott, Williams & Wilkins","dateIssuedDisp":"1998-","publisherPlace":"Amsterdam ; London, UK ; Baltimore, Md."}],"physDesc":[{"extent":"Online-Ressource"}]}],"physDesc":[{"extent":"18 S.","noteIll":"Illustrationen"}],"name":{"displayForm":["Niles Nelson, Simone Feurstein, Aram Niaz, Jia Truong, Jessica K. Holien, Sionne Lucas, Kirsten Fairfax, Joanne Dickinson, Tracy M. Bryan"]},"id":{"eki":["1839749563"],"doi":["10.1016/j.gim.2022.11.021"]},"origin":[{"dateIssuedDisp":"March 2023","dateIssuedKey":"2023"}]} | ||
| SRT | |a NELSONNILEFUNCTIONAL2023 | ||