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1 . Academic Journal
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
저자
by
Marshall, Christian
;
Meng, Linyan
;
Jobanputra, Vaidehi
;
Taft, Ryan
;
Ashley, Euan
, et al.
소스
In
Genetics in Medicine
December 2023 25(12)
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7 . Academic Journal
P570: Generating a framework for curating mechanism of disease in monogenic conditions: A consensus effort of the Gene Curation Coalition*
저자
by
DiStefano, Marina
;
Alkuraya, Fowzan
;
Amberger, Joanna
;
Austin-Tse, Christina
;
Austine, Ola
, et al.
소스
In
Genetics in Medicine Open
2024 2 Supplement 1
Full Text (Clinical Key)
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7 . Academic Journal
Biallelic variants in GTF3C5, a regulator of RNA polymerase III-mediated transcription, cause a multisystem developmental disorder.
저자
by
Iwata-Otsubo, Aiko
;
Skraban, Cara M.
;
Yoshimura, Atsunori
;
Sakata, Toyonori
;
Alves, Cesar Augusto P.
, et al.
소스
Human Genetics
. Mar2024, Vol. 143 Issue 3, p437-453. 17p.
Scopus
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7 . Academic Journal
P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions
저자
by
DiStefano, Marina
;
Amberger, Joanna
;
Austin-Tse, Christina
;
Balzotti, Marie
;
Amin, Mutaz
, et al.
소스
In
Genetics in Medicine Open
2023 1(1) Supplement
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7 . Academic Journal
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5‐year experience with GeneMatcher.
저자
by
Towne, Meghan C.
;
Rossi, Mari
;
Wayburn, Bess
;
Huang, Jennifer M.
;
Radtke, Kelly
, et al.
소스
Human Mutation; Jun2022, Vol. 43 Issue 6, p772-781, 10p
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7 . Academic Journal
Clinical diagnostic exome sequencing in dystonia: Genetic testing challenges for complex conditions.
저자
by
Powis, Zöe
;
Towne, Meghan C.
;
Hagman, Kelly D.F.
;
Blanco, Kirsten
;
Palmaer, Erika
, et al.
소스
Clinical Genetics
. Feb2020, Vol. 97 Issue 2, p305-311. 7p. 2 Charts.
Scopus
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7 . Periodical
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change
저자
by
Rehm, Heidi L.
;
Alaimo, Joseph T.
;
Aradhya, Swaroop
;
Bayrak-Toydemir, Pinar
;
Best, Hunter
, et al.
소스
Genetics in Medicine; December 2023, Vol. 25 Issue: 12
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7 . Academic Journal
Functional variants in TBX2 are associated with a syndromic cardiovascular and skeletal developmental disorder.
저자
by
Ning Liu
;
Schoch, Kelly
;
Xi Luo
;
Pena, Loren D. M.
;
Bhavana, Venkata Hemanjani
, et al.
소스
Human Molecular Genetics; 7/15/2018, Vol. 27 Issue 14, p2454-2465, 12p
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7 . Periodical
De novo mutations in MSL3cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation
저자
by
Basilicata, M. Felicia
;
Bruel, Ange-Line
;
Semplicio, Giuseppe
;
Valsecchi, Claudia Isabelle Keller
;
Aktas, Tugçe
, et al.
소스
Nature Genetics; October 2018, Vol. 50 Issue: 10 p1442-1451, 10p
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7 . Academic Journal
A retrospective review of multiple findings in diagnostic exome sequencing: half are distinct and half are overlapping diagnoses
저자
by
Smith, Erica D.
;
Blanco, Kirsten
;
Sajan, Samin A.
;
Hunter, Jesse M.
;
Shinde, Deepali N.
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 21(10):2199-2207
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