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1 . Academic Journal
18 Tracking Uncertainty in Germline Genetic Testing for Inborn Errors of Immunity: Sources, Attributes, and Resolution of Variants of Uncertain Significance in Over 44,000 Individuals
저자
by
Ting, Yi-Lee
;
Chen, Elaine
;
Facio, Flavia
;
Hatchell, Kathryn
;
Aguilar, Sienna
, et al.
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In
Clinical Immunology
May 2024 262 Supplement
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7 . Academic Journal
P292: Clinical burden and health behaviors associated with genomic screening for homozygous HFE C282Y variants in an unselected health care system*
저자
by
Savatt, Juliann
;
Johns, Alicia
;
Schwartz, Marci
;
Salvati, Zachary
;
Ortiz, Nicole
, et al.
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In
Genetics in Medicine Open
2023 1(1) Supplement
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7 . Academic Journal
O12: Real world impact of germline genetic testing on clinical decision making for prostate cancer patients*
저자
by
Shore, Neal
;
Pieczonka, Christopher
;
Gazi, Mukaram
;
Heron, Sean
;
Cahn, David
, et al.
소스
In
Genetics in Medicine Open
2023 1(1) Supplement
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7 . Academic Journal
Genetic testing guides clinical management of epilepsy and improves patient outcomes
저자
by
Narravula, Alekhya
;
Mcknight, Dianalee
;
Morales, Ana
;
Hatchell, Kathryn
;
Bristow, Sara
, et al.
소스
In
Journal of the Neurological Sciences
October 2021 429 Supplement
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7 . Academic Journal
Healthcare Utilization In Cardiomyopathy Patients Who Had Genetic Testing Before Or After Diagnosis
저자
by
Moretz, Chad
;
Smith, Elizabeth M
;
Aradhya, Swaroop
;
Callis, Tom
;
Esplin, Edward
, et al.
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In
Journal of Cardiac Failure
April 2023 29(4):571-571
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7 . Academic Journal
CDH1 germline variants are enriched in patients with colorectal cancer, gastric cancer, and breast cancer.
저자
by
Adib, Elio
;
El Zarif, Talal
;
Nassar, Amin H
;
Akl, Elie W
;
Abou Alaiwi, Sarah
, et al.
소스
British Journal of Cancer
. Mar2022, Vol. 126 Issue 4, p797-803. 7p.
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7 . Academic Journal
Testing and Management of Iron Overload After Genetic Screening–Identified Hemochromatosis.
저자
by
Savatt, Juliann M.
;
Johns, Alicia
;
Schwartz, Marci L. B.
;
McDonald, Whitney S.
;
Salvati, Zachary M.
, et al.
소스
JAMA Network Open; 10/23/2023, Vol. 6 Issue 10, pe2338995-e2338995, 1p
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7 . Academic Journal
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation
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by
Lincoln, Stephen E.
;
Hambuch, Tina
;
Zook, Justin M.
;
Bristow, Sara L.
;
Hatchell, Kathryn
, et al.
소스
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics
. 23(9):1673-1680
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7 . Academic Journal
A Novel Approach for Measuring and Communicating State Health Trends Over Time.
저자
by
Timberlake, Karen
;
Roubal, Anne
;
Hatchell, Kathryn
;
Catlin, Bridget
;
Remington, Patrick
.
소스
Wisconsin Medical Journal; Dec2015, Vol. 114 Issue 6, p240-246, 7p
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7 . Periodical
eP307: The impact of proband indication for genetic testing on the uptake of cascade testing among relatives
저자
by
Schmidlen, Tara
;
Hatchell, Kathryn
;
Bristow, Sara L.
;
Haverfield, Eden
.
소스
Genetics in Medicine; March 2022, Vol. 24 Issue: 3, Number 3 Supplement 1 pS193-S194, 2p
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