Detalhe da pesquisa
1.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(1): 96-118, 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38181735
2.
Challenges and approaches to calibrating patient phenotype as evidence for cancer gene variant classification under ACMG/AMP guidelines.
Hum Mol Genet
; 33(8): 724-732, 2024 Apr 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38271184
3.
Specifications of the ACMG/AMP Variant Classification Guidelines for Germline DICER1 Variant Curation.
Hum Mutat
; 20232023.
Artigo
em Inglês
| MEDLINE | ID: mdl-38084291
4.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 111(4): 805, 2024 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38508193
5.
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3.
Am J Hum Genet
; 2024 May 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-38723631
6.
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.
Hum Mutat
; 39(11): 1581-1592, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311380
7.
ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
Hum Mutat
; 39(11): 1614-1622, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30311389
8.
Germline Heterozygous Variants in SEC23B Are Associated with Cowden Syndrome and Enriched in Apparently Sporadic Thyroid Cancer.
Am J Hum Genet
; 97(5): 661-76, 2015 Nov 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26522472
9.
Utility of Expedited Hereditary Cancer Testing in the Surgical Management of Patients with a New Breast Cancer Diagnosis.
Ann Surg Oncol
; 25(12): 3556-3562, 2018 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-30167906
10.
Germline PIK3CA and AKT1 mutations in Cowden and Cowden-like syndromes.
Am J Hum Genet
; 92(1): 76-80, 2013 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23246288
11.
Germline and somatic KLLN alterations in breast cancer dysregulate G2 arrest.
Hum Mol Genet
; 22(12): 2451-61, 2013 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23446638
12.
Germline PTEN, SDHB-D, and KLLN alterations in endometrial cancer patients with Cowden and Cowden-like syndromes: an international, multicenter, prospective study.
Cancer
; 121(5): 688-96, 2015 Mar 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25376524
13.
Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.
Gastroenterology
; 144(7): 1402-9, 1409.e1-5, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23399955
14.
PTEN germline mutations in patients initially tested for other hereditary cancer syndromes: would use of risk assessment tools reduce genetic testing?
Oncologist
; 18(10): 1083-90, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24037976
15.
Rare variants in PPFIA3 cause delayed development, intellectual disability, autism, and epilepsy.
medRxiv
; 2023 Mar 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-37034625
16.
Elevated plasma succinate in PTEN, SDHB, and SDHD mutation-positive individuals.
Genet Med
; 14(6): 616-9, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22261759
17.
Fibroblast testing can inform medical management in individuals with mosaic variants detected on hereditary cancer panels.
Cancer Genet
; 266-267: 86-89, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35926323
18.
ClinGen Variant Curation Interface: a variant classification platform for the application of evidence criteria from ACMG/AMP guidelines.
Genome Med
; 14(1): 6, 2022 01 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-35039090
19.
Apparently Heterozygous TP53 Pathogenic Variants May Be Blood Limited in Patients Undergoing Hereditary Cancer Panel Testing.
J Mol Diagn
; 22(3): 396-404, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31881331
20.
Perceptions of licensure: a survey of Michigan genetic counselors.
J Genet Couns
; 18(4): 357-65, 2009 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-19452266