Search details
1.
AutoGVP: a dockerized workflow integrating ClinVar and InterVar germline sequence variant classification.
Bioinformatics
; 40(3)2024 Mar 04.
Article
in English
| MEDLINE | ID: mdl-38426335
2.
Prevalence of lung cysts in adolescents and adults with a germline DICER1 pathogenic/likely pathogenic variant: a report from the National Institutes of Health and International Pleuropulmonary Blastoma/DICER1 Registry.
Thorax
; 2024 Mar 20.
Article
in English
| MEDLINE | ID: mdl-38508719
3.
Most Fanconi anemia heterozygotes are not at increased cancer risk: A genome-first DiscovEHR cohort population study.
Genet Med
; 26(3): 101042, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38063144
4.
Outcomes in ovarian Sertoli-Leydig cell tumor: A report from the International Pleuropulmonary Blastoma/DICER1 and Ovarian and Testicular Stromal Tumor Registries.
Gynecol Oncol
; 186: 117-125, 2024 Apr 22.
Article
in English
| MEDLINE | ID: mdl-38657450
5.
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.
Hum Mutat
; 20232023.
Article
in English
| MEDLINE | ID: mdl-38084291
6.
Type I and Ir pleuropulmonary blastoma (PPB): A report from the International PPB/DICER1 Registry.
Cancer
; 129(4): 600-613, 2023 02 15.
Article
in English
| MEDLINE | ID: mdl-36541021
7.
Cancer in Costello syndrome: a systematic review and meta-analysis.
Br J Cancer
; 128(11): 2089-2096, 2023 06.
Article
in English
| MEDLINE | ID: mdl-36966234
8.
Management of individuals with germline pathogenic/likely pathogenic variants in CHEK2: A clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 25(10): 100870, 2023 10.
Article
in English
| MEDLINE | ID: mdl-37490054
9.
Increase in power by obtaining 10 or more controls per case when type-1 error is small in large-scale association studies.
BMC Med Res Methodol
; 23(1): 153, 2023 06 29.
Article
in English
| MEDLINE | ID: mdl-37386403
10.
Health-related quality of life in children and adolescents with pleuropulmonary blastoma: A report from the International PPB/DICER1 Registry.
Pediatr Blood Cancer
; 70(4): e30077, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36424733
11.
Testicular Sertoli cell tumour and potentially testicular Leydig cell tumour are features of DICER1 syndrome.
J Med Genet
; 59(4): 346-350, 2022 04.
Article
in English
| MEDLINE | ID: mdl-33782093
12.
Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population.
JAMA
; 329(4): 318-324, 2023 01 24.
Article
in English
| MEDLINE | ID: mdl-36692560
13.
Cancer incidence and surveillance strategies in individuals with RASopathies.
Am J Med Genet C Semin Med Genet
; 190(4): 530-540, 2022 12.
Article
in English
| MEDLINE | ID: mdl-36533693
14.
DICER1 tumor predisposition syndrome: an evolving story initiated with the pleuropulmonary blastoma.
Mod Pathol
; 35(1): 4-22, 2022 01.
Article
in English
| MEDLINE | ID: mdl-34599283
15.
Management of individuals with germline variants in PALB2: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(8): 1416-1423, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33976419
16.
A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations.
Genet Med
; 23(1): 94-102, 2021 01.
Article
in English
| MEDLINE | ID: mdl-32989268
17.
Pleuropulmonary blastoma-like peritoneal sarcoma: a newly described malignancy associated with biallelic DICER1 pathogenic variation.
Mod Pathol
; 33(10): 1922-1929, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32415267
18.
Advancing RAS/RASopathy therapies: An NCI-sponsored intramural and extramural collaboration for the study of RASopathies.
Am J Med Genet A
; 182(4): 866-876, 2020 04.
Article
in English
| MEDLINE | ID: mdl-31913576
19.
Gynecologic and reproductive health in patients with pathogenic germline variants in DICER1.
Gynecol Oncol
; 156(3): 647-653, 2020 03.
Article
in English
| MEDLINE | ID: mdl-31952842
20.
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