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1.
Spectrum and Excess Risk of Gastrointestinal Tumors in Li-Fraumeni Syndrome.
Clin Gastroenterol Hepatol
; 22(3): 662-665.e1, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-37714395
2.
Genome-wide Association Study Identifies HLA-DPB1 as a Significant Risk Factor for Severe Aplastic Anemia.
Am J Hum Genet
; 106(2): 264-271, 2020 02 06.
Article
in English
| MEDLINE | ID: mdl-32004448
3.
Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Hum Mutat
; 42(3): 223-236, 2021 03.
Article
in English
| MEDLINE | ID: mdl-33300245
4.
Variable population prevalence estimates of germline TP53 variants: A gnomAD-based analysis.
Hum Mutat
; 40(1): 97-105, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30352134
5.
Response to: Concern regarding classification of germlineTP53 variants as likely pathogenic.
Hum Mutat
; 40(6): 832-833, 2019 06.
Article
in English
| MEDLINE | ID: mdl-30997946
6.
Genome-first approach of the prevalence and cancer phenotypes of pathogenic or likely pathogenic germline TP53 variants.
HGG Adv
; 5(1): 100242, 2024 Jan 11.
Article
in English
| MEDLINE | ID: mdl-37777824
7.
Multiple Germline Events Contribute to Cancer Development in Patients with Li-Fraumeni Syndrome.
Cancer Res Commun
; 3(5): 738-754, 2023 05.
Article
in English
| MEDLINE | ID: mdl-37377903
8.
Lipoprotein particle alterations due to androgen therapy in individuals with dyskeratosis congenita.
EBioMedicine
; 75: 103760, 2022 Jan.
Article
in English
| MEDLINE | ID: mdl-34929494
9.
Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles.
Cold Spring Harb Mol Case Stud
; 7(4)2021 08.
Article
in English
| MEDLINE | ID: mdl-34162668
10.
Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in the Childhood Cancer Survivor Study.
JNCI Cancer Spectr
; 5(2)2021 04.
Article
in English
| MEDLINE | ID: mdl-34308104
11.
XAF1 as a modifier of p53 function and cancer susceptibility.
Sci Adv
; 6(26): eaba3231, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32637605
12.
Pilot study of the prevalence of autoimmune disorders in Li-Fraumeni syndrome.
Fam Cancer
; 22(3): 319-321, 2023 07.
Article
in English
| MEDLINE | ID: mdl-36627407
13.
Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.
Genome Med
; 10(1): 99, 2018 12 24.
Article
in English
| MEDLINE | ID: mdl-30583724
14.
Spectrum and Incidence of Skin Cancer among Individuals with Li-Fraumeni Syndrome.
J Invest Dermatol
; 142(9): 2534-2537.e1, 2022 09.
Article
in English
| MEDLINE | ID: mdl-35183552
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